ClinVar Miner

Variants from MGZ Medical Genetics Center

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
836 902 1253 103 9 3103

Gene and significance breakdown #

Total genes and gene combinations: 1034
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 41 12 13 66 2 134
BRCA1 19 6 6 22 6 59
NF1 30 10 18 0 0 58
ATM 9 7 38 0 0 54
CHEK2 6 8 19 0 0 33
RYR1 6 8 19 0 0 33
PALB2 10 5 16 0 0 31
ATM, C11orf65 7 3 20 0 0 30
MSH6 8 7 9 0 0 24
CFTR 9 4 10 0 0 23
CLCN1 12 4 6 0 0 22
LDLR 8 11 3 0 0 22
NOTCH3 9 7 6 0 0 22
BARD1 2 3 14 0 0 19
BRIP1 3 6 10 0 0 19
PMS2 6 5 7 0 0 18
ABCA4 9 6 2 0 0 17
APC 3 9 5 0 0 17
GH-LCR, SCN4A 7 3 7 0 0 17
MSH2 5 3 9 0 0 17
PKD1 8 1 7 0 0 16
POLE 0 0 16 0 0 16
CAPN3 7 3 5 0 0 15
MLH1 8 2 5 0 0 15
ANO5 5 5 4 0 0 14
DMD 3 5 6 0 0 14
MUTYH 5 1 8 0 0 14
RAD51D, RAD51L3-RFFL 2 2 10 0 0 14
STK11 2 1 11 0 0 14
BRCA1, LOC126862571 7 0 2 4 0 13
FBN1 1 6 6 0 0 13
LOC102724058, SCN1A 2 7 4 0 0 13
LZTR1 5 7 1 0 0 13
POLG, POLGARF 5 4 4 0 0 13
SPAST 2 7 4 0 0 13
SPG7 3 5 5 0 0 13
TYR 7 5 1 0 0 13
CACNA1A 2 3 7 0 0 12
CDH1 3 1 8 0 0 12
HBB, LOC106099062, LOC107133510 11 0 1 0 0 12
OPA1 5 3 4 0 0 12
SHANK3 2 4 6 0 0 12
SLC12A3 3 5 4 0 0 12
TNXB 0 1 11 0 0 12
ANKRD11 4 5 2 0 0 11
GAA 6 1 4 0 0 11
KCNQ1 8 3 0 0 0 11
PTPN11 9 2 0 0 0 11
SCN2A 1 2 8 0 0 11
TP53 5 0 6 0 0 11
TSC2 4 0 7 0 0 11
COL1A2 4 3 3 0 0 10
COL6A3 1 4 5 0 0 10
DYSF 2 4 4 0 0 10
FH 4 4 2 0 0 10
KCNQ2 3 5 2 0 0 10
NSD1 3 3 4 0 0 10
PTEN 6 3 1 0 0 10
RET 4 3 3 0 0 10
RYR2 1 0 9 0 0 10
TSC1 5 2 3 0 0 10
COL1A1 4 3 2 0 0 9
COL2A1 2 5 2 0 0 9
GCK 1 6 2 0 0 9
GDAP1 4 2 3 0 0 9
GJB1 5 4 0 0 0 9
GJB2 9 0 0 0 0 9
MEFV 2 2 5 0 0 9
MYBPC3 4 4 1 0 0 9
OCA2 3 4 2 0 0 9
WFS1 2 4 3 0 0 9
CHD7 0 3 5 0 0 8
COL5A1 0 2 5 1 0 8
FLCN 3 4 1 0 0 8
POLD1 0 0 8 0 0 8
SCN1A 3 5 0 0 0 8
SETX 0 3 5 0 0 8
SLC2A1 3 3 2 0 0 8
TTN 2 2 4 0 0 8
ACADM 3 2 2 0 0 7
BEST1 0 6 1 0 0 7
COL4A1 1 1 5 0 0 7
COL4A5 1 4 2 0 0 7
EYS 2 4 1 0 0 7
KMT2D 2 1 4 0 0 7
LAMA2 3 3 1 0 0 7
LMNA 0 5 2 0 0 7
MEN1 1 4 2 0 0 7
MVP-DT, PRRT2 3 3 1 0 0 7
MYH7 0 3 4 0 0 7
PKD2 6 1 0 0 0 7
PKHD1 3 1 3 0 0 7
PTCH1 0 6 1 0 0 7
SCN10A 0 0 7 0 0 7
SDHB 6 1 0 0 0 7
USH2A 4 1 2 0 0 7
ACAD9 0 5 1 0 0 6
BTD 3 2 1 0 0 6
COL3A1 0 1 5 0 0 6
COL4A3, MFF-DT 1 4 1 0 0 6
COL5A1, LOC101448202 0 1 5 0 0 6
COL6A2 0 1 5 0 0 6
DYNC1H1 0 1 4 1 0 6
GALC 1 3 2 0 0 6
HEXA 4 0 2 0 0 6
KIF5A 0 2 4 0 0 6
KMT2C 1 1 4 0 0 6
MECP2 5 0 1 0 0 6
RAD51C 2 2 2 0 0 6
SACS 1 3 2 0 0 6
SORD 2 0 4 0 0 6
WNT10A 2 4 0 0 0 6
ABCD1 0 3 2 0 0 5
ALPL 1 3 1 0 0 5
ASXL3 2 1 2 0 0 5
ATP1A3 2 2 1 0 0 5
CACNA1S 0 2 3 0 0 5
CHD3 0 1 4 0 0 5
CPT2 2 0 3 0 0 5
DNM2 3 1 1 0 0 5
DYRK1A 3 2 0 0 0 5
FGFR3 3 2 0 0 0 5
FIG4 0 3 2 0 0 5
FKRP 1 3 1 0 0 5
GABBR2 0 1 4 0 0 5
GLB1 1 3 1 0 0 5
KMT2A 1 2 2 0 0 5
MPZ 0 3 2 0 0 5
NEB 2 3 0 0 0 5
NTHL1 2 0 3 0 0 5
PRPH2 3 2 0 0 0 5
SCN5A 0 2 3 0 0 5
SDHD 1 3 1 0 0 5
SETD5 0 3 2 0 0 5
SOD1 0 3 2 0 0 5
SPTBN2 0 0 5 0 0 5
TUBA1A 2 2 1 0 0 5
ABCC8 0 1 3 0 0 4
AFG2A 0 4 0 0 0 4
ARID1B 1 2 1 0 0 4
BPTF 0 1 3 0 0 4
CASD1, SGCE 3 0 1 0 0 4
CDKN2A 3 1 0 0 0 4
CEP290 3 0 0 1 0 4
CFTR, LOC111674472 2 0 2 0 0 4
COL18A1 2 0 2 0 0 4
CREBBP 2 0 1 1 0 4
DICER1 0 1 3 0 0 4
ETFDH 1 1 2 0 0 4
G6PD 4 0 0 0 0 4
GRIN2A 0 2 2 0 0 4
IDS, LOC106050102 3 0 1 0 0 4
KIF1A 2 1 1 0 0 4
KIF21A 1 0 3 0 0 4
LAMA1 2 1 1 0 0 4
LOC126862264, MEFV 3 0 1 0 0 4
MC4R 0 3 1 0 0 4
MSH3 1 1 2 0 0 4
MT-ND5 1 0 3 0 0 4
MTM1 0 2 2 0 0 4
MYH11 0 0 4 0 0 4
NEFL 0 0 4 0 0 4
NUS1 0 2 2 0 0 4
PAH 2 2 0 0 0 4
POMT1 2 1 1 0 0 4
PSEN1 1 2 1 0 0 4
PURA 0 4 0 0 0 4
RPGR 2 2 0 0 0 4
SELENON 3 1 0 0 0 4
SH3TC2 1 2 1 0 0 4
SKI 0 1 2 1 0 4
SMAD4 1 2 1 0 0 4
SMCHD1 0 2 2 0 0 4
SPTLC2 0 1 3 0 0 4
STXBP1 3 1 0 0 0 4
TANC2 0 0 4 0 0 4
TGFBR1 0 3 1 0 0 4
TRIP12 1 1 1 1 0 4
TRRAP 0 0 4 0 0 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 4 0 0 4
AAAS 0 2 1 0 0 3
ABCC6 1 0 2 0 0 3
ACADS 1 2 0 0 0 3
ACTG1 0 1 2 0 0 3
ACVRL1 2 1 0 0 0 3
ADAT3, SCAMP4 0 0 3 0 0 3
APOB 1 0 2 0 0 3
ARID1A 0 1 2 0 0 3
ATP1A2 0 0 3 0 0 3
ATRX 0 1 2 0 0 3
BAP1 0 1 2 0 0 3
BSCL2, HNRNPUL2-BSCL2 1 0 2 0 0 3
CACNA1C 0 0 3 0 0 3
CACNA1F 1 1 1 0 0 3
CASR 1 0 2 0 0 3
CDK13 1 0 2 0 0 3
CDKL5 0 1 2 0 0 3
CHD8 2 0 1 0 0 3
CHRND 1 1 1 0 0 3
CHST6 1 0 2 0 0 3
COL11A1 0 0 3 0 0 3
COL12A1 0 1 2 0 0 3
CUL3 1 2 0 0 0 3
DES 0 0 3 0 0 3
DHCR7 1 2 0 0 0 3
DSP 0 2 1 0 0 3
EHMT1 1 2 0 0 0 3
EIF2B5 1 0 2 0 0 3
EP300 0 0 3 0 0 3
EYA1 0 3 0 0 0 3
GABRG2 0 1 2 0 0 3
GBE1 1 2 0 0 0 3
GMPPB 0 2 1 0 0 3
GNE 1 1 1 0 0 3
GPHN, RDH12 1 1 1 0 0 3
GRIN2B 0 1 2 0 0 3
HNF1A 2 0 1 0 0 3
HSPB1 0 1 2 0 0 3
HUWE1 0 0 3 0 0 3
IGHMBP2 0 3 0 0 0 3
IMPG2 0 2 1 0 0 3
ITPR1 1 1 1 0 0 3
JAG1 1 0 2 0 0 3
KAT6A 0 3 0 0 0 3
KCNA2 1 0 2 0 0 3
KCNB1 0 2 1 0 0 3
KDM5C 0 2 1 0 0 3
KIF11 1 1 0 1 0 3
KMT2E 1 1 1 0 0 3
KRIT1 1 2 0 0 0 3
LOC126861898, MYH7 1 2 0 0 0 3
LOC126863253, UBA1 0 3 0 0 0 3
LOXHD1 1 1 1 0 0 3
LRSAM1 0 3 0 0 0 3
MAN2B1 2 1 0 0 0 3
MED13L 0 2 1 0 0 3
MFN2 1 1 1 0 0 3
MICU1 1 1 1 0 0 3
MMACHC 1 0 2 0 0 3
MME 2 1 0 0 0 3
MPV17 2 1 0 0 0 3
MYH11, NDE1 0 1 2 0 0 3
MYH6 0 0 3 0 0 3
MYT1L 0 3 0 0 0 3
NCAPH2, SCO2 1 0 2 0 0 3
NF2 1 0 2 0 0 3
NIPBL 0 1 2 0 0 3
NOTCH2 0 0 3 0 0 3
OTC 2 0 1 0 0 3
PKP2 2 1 0 0 0 3
POGZ 2 0 1 0 0 3
PYGM 2 0 1 0 0 3
RP1 0 1 2 0 0 3
RPE65 1 0 2 0 0 3
SCN4A 0 1 2 0 0 3
SETD1B 0 0 3 0 0 3
SETD2 0 0 3 0 0 3
SIN3A 1 0 2 0 0 3
SLC26A4 3 0 0 0 0 3
SLC34A3 0 3 0 0 0 3
SLC3A1 0 2 1 0 0 3
SLC52A3 0 1 2 0 0 3
SLC6A1 0 2 1 0 0 3
SMAD3 0 1 2 0 0 3
SPRED1 0 3 0 0 0 3
SYNGAP1 0 2 1 0 0 3
TBK1 1 0 2 0 0 3
TGFB2 1 2 0 0 0 3
TNFRSF1A 0 3 0 0 0 3
TP63 0 3 0 0 0 3
TRIO 1 2 0 0 0 3
TTR 1 1 1 0 0 3
UMOD 0 1 2 0 0 3
VARS2 1 1 1 0 0 3
AARS1 0 0 2 0 0 2
AARS2, POLR1C 0 1 1 0 0 2
ABCB11 1 0 1 0 0 2
ACAN 0 1 1 0 0 2
ACO2 0 0 2 0 0 2
ACTA1 0 1 1 0 0 2
ADAMTSL4 1 1 0 0 0 2
ADCY5 0 0 2 0 0 2
ADNP 1 1 0 0 0 2
ADSL 1 0 1 0 0 2
AHDC1 0 1 1 0 0 2
AKAP9 0 0 2 0 0 2
ALDH7A1 2 0 0 0 0 2
ALG8 0 0 2 0 0 2
ALMS1 1 1 0 0 0 2
AMACR, C1QTNF3-AMACR 0 1 1 0 0 2
ANK2 0 1 1 0 0 2
APOA5 2 0 0 0 0 2
ARHGEF10 0 0 2 0 0 2
ARSA 1 0 1 0 0 2
ASH1L 0 1 1 0 0 2
ASPM 0 1 1 0 0 2
ATL1 0 1 1 0 0 2
ATP2A1 0 1 1 0 0 2
ATP7B 2 0 0 0 0 2
ATP8B1 2 0 0 0 0 2
AXIN2 0 1 1 0 0 2
BCL11A 0 1 1 0 0 2
BICRA 0 0 2 0 0 2
BMPR1A 0 0 2 0 0 2
BRAF 1 0 1 0 0 2
C17orf107, CHRNE 0 1 1 0 0 2
CBL 0 1 1 0 0 2
CCDST, FLG 1 1 0 0 0 2
CDC73 1 1 0 0 0 2
CENPF 0 1 1 0 0 2
CEP152 2 0 0 0 0 2
CFTR, LOC111674475 2 0 0 0 0 2
CHD2 1 1 0 0 0 2
CHRNE 0 1 1 0 0 2
CLTC 0 1 1 0 0 2
CNOT3 0 1 1 0 0 2
CNTNAP2 0 0 2 0 0 2
COL4A2 0 0 2 0 0 2
COL4A4 1 1 0 0 0 2
COL5A2 0 0 2 0 0 2
COL6A1 1 1 0 0 0 2
COLQ 1 1 0 0 0 2
COMP 0 2 0 0 0 2
CRB1 1 1 0 0 0 2
CRYAA 1 1 0 0 0 2
CSNK2A1 2 0 0 0 0 2
CSNK2B 0 2 0 0 0 2
CTNNB1, LOC126806659 2 0 0 0 0 2
CTRC 0 0 2 0 0 2
CUBN 0 1 1 0 0 2
CUL4B 0 1 1 0 0 2
CUX2 0 0 2 0 0 2
CYP17A1 2 0 0 0 0 2
CYP2U1 0 1 1 0 0 2
DCHS1 0 1 1 0 0 2
DDHD2 0 2 0 0 0 2
DDX3X 0 1 1 0 0 2
DHTKD1 0 1 1 0 0 2
DLL1 1 0 1 0 0 2
DNAAF1 1 0 1 0 0 2
DNMT3A 0 1 1 0 0 2
DYNC2H1 0 0 2 0 0 2
EBF3 0 1 1 0 0 2
EEF1A2 0 1 1 0 0 2
EFHC1 0 0 2 0 0 2
ERCC4 0 2 0 0 0 2
ETHE1 1 0 1 0 0 2
EXOSC3 2 0 0 0 0 2
EXT1 1 1 0 0 0 2
EXT2 0 1 1 0 0 2
EYS, PHF3 0 2 0 0 0 2
FBN2 0 2 0 0 0 2
FGD1, TSR2 0 1 1 0 0 2
FLNC 0 0 2 0 0 2
FLVCR1 0 0 2 0 0 2
FOXE3, LINC01389 1 0 1 0 0 2
FOXL2 2 0 0 0 0 2
FOXP1, LOC126806714 0 2 0 0 0 2
FOXRED1 1 1 0 0 0 2
FSHR 0 0 2 0 0 2
FSIP2 0 1 1 0 0 2
FUS 0 0 2 0 0 2
GABRB2 0 0 2 0 0 2
GALNT2 0 0 2 0 0 2
GALT 2 0 0 0 0 2
GLA, RPL36A-HNRNPH2 0 0 2 0 0 2
GLI3 1 0 1 0 0 2
GNAO1 1 1 0 0 0 2
GNB1 0 2 0 0 0 2
GNPTAB 1 1 0 0 0 2
GNRHR 0 2 0 0 0 2
GPAA1 0 1 1 0 0 2
GRIN2D 0 0 2 0 0 2
GYG1 1 1 0 0 0 2
HERC2 0 0 2 0 0 2
HGSNAT 1 0 1 0 0 2
HK1 1 1 0 0 0 2
HNF4A 0 0 2 0 0 2
HTRA1 0 1 1 0 0 2
IDUA 1 1 0 0 0 2
IFT140 1 0 1 0 0 2
INF2 0 1 1 0 0 2
IQSEC2 0 1 1 0 0 2
IRAK1BP1, PHIP 1 1 0 0 0 2
ITGB4 0 0 2 0 0 2
JUP 0 0 2 0 0 2
KCNA1 0 1 1 0 0 2
KCNH2 1 0 1 0 0 2
KDM6B 0 2 0 0 0 2
KLHL40 0 1 1 0 0 2
KMT2B 0 0 2 0 0 2
L2HGDH 0 2 0 0 0 2
LARS2 0 1 1 0 0 2
LBR 0 0 2 0 0 2
LOC108281177, SOX2, SOX2-OT 1 1 0 0 0 2
LOC126861897, MHRT, MYH7 0 1 1 0 0 2
LOC126862987, SEC23B 2 0 0 0 0 2
MAF 0 0 2 0 0 2
MAGEL2 1 0 1 0 0 2
MAP1B 0 0 2 0 0 2
MBD5 0 2 0 0 0 2
MFSD8 2 0 0 0 0 2
MMUT 0 1 1 0 0 2
MN1 1 1 0 0 0 2
MNS1, TEX9 0 1 1 0 0 2
MPDZ 0 1 1 0 0 2
MSRB3 0 0 2 0 0 2
MT-ATP6 1 1 0 0 0 2
MT-CO3 0 0 2 0 0 2
MT-ND4 1 0 0 1 0 2
MT-TK 1 0 1 0 0 2
MT-TL1 1 0 1 0 0 2
MTHFR 0 2 0 0 0 2
MYCN, MYCNOS 1 0 1 0 0 2
MYH9 0 0 2 0 0 2
MYL2 1 0 1 0 0 2
MYLK 0 0 2 0 0 2
MYO5B 0 0 2 0 0 2
MYO6 0 1 1 0 0 2
MYO7A 1 1 0 0 0 2
MYORG 0 0 2 0 0 2
MYOT, PKD2L2-DT 1 1 0 0 0 2
MYPN 1 1 0 0 0 2
NDUFS2 0 0 2 0 0 2
NEB, RIF1 0 1 1 0 0 2
NFIB 0 2 0 0 0 2
NHS 0 2 0 0 0 2
NLRP12 0 0 2 0 0 2
NLRP3 0 1 1 0 0 2
NOTCH1 0 0 2 0 0 2
NSD2 1 1 0 0 0 2
NYX 0 2 0 0 0 2
OTOGL 1 1 0 0 0 2
PCDH15 0 2 0 0 0 2
PCDH19 0 0 1 1 0 2
PDE6A 0 2 0 0 0 2
PDE6C 0 0 2 0 0 2
PDHA1 1 1 0 0 0 2
PEX2 1 0 1 0 0 2
PHIP 1 1 0 0 0 2
PHKA1 0 0 2 0 0 2
PIEZO2 1 0 1 0 0 2
PIGO 1 1 0 0 0 2
PIGT 2 0 0 0 0 2
PIK3CA 2 0 0 0 0 2
PLA2G6 0 0 2 0 0 2
PLEC 0 0 2 0 0 2
POLA1 0 0 2 0 0 2
POMT2 0 1 1 0 0 2
PPM1D 1 1 0 0 0 2
PROC 0 2 0 0 0 2
PRODH 0 0 2 0 0 2
PROKR2 1 1 0 0 0 2
PROM1 2 0 0 0 0 2
REEP1 1 1 0 0 0 2
RERE 0 2 0 0 0 2
RIT1 2 0 0 0 0 2
RLIM 0 1 1 0 0 2
RNASEH2B 0 1 1 0 0 2
RORA 0 0 2 0 0 2
RP1L1 0 1 1 0 0 2
SCN8A 0 1 1 0 0 2
SDHA 2 0 0 0 0 2
SEMA6B 0 1 0 1 0 2
SERPINA1 1 1 0 0 0 2
SGCG 1 0 1 0 0 2
SLC16A2 1 1 0 0 0 2
SLC6A17 0 0 2 0 0 2
SMARCB1 0 1 1 0 0 2
SMN1 2 0 0 0 0 2
SMPD1 1 1 0 0 0 2
SNHG14, UBE3A 1 0 1 0 0 2
SOX5 1 1 0 0 0 2
SPEN 1 1 0 0 0 2
SPG11 1 0 1 0 0 2
SPTB 1 1 0 0 0 2
STAG1 0 2 0 0 0 2
SURF1 0 1 1 0 0 2
TANGO2 0 1 1 0 0 2
TAOK1 1 0 1 0 0 2
TARDBP 1 1 0 0 0 2
TET3 0 1 1 0 0 2
TGFBR2 0 0 2 0 0 2
TIMMDC1 0 1 1 0 0 2
TMPRSS6 0 1 1 0 0 2
TNNI3 0 1 1 0 0 2
TPM3 0 0 2 0 0 2
TRMT10A 0 2 0 0 0 2
TSEN54 1 0 1 0 0 2
TSPEAR 1 0 1 0 0 2
TUBB 1 1 0 0 0 2
TUBB1 0 1 1 0 0 2
TUBB2B 0 1 1 0 0 2
TYMP 0 1 1 0 0 2
WAC 0 1 1 0 0 2
WARS2 0 1 1 0 0 2
WDFY3 0 2 0 0 0 2
WDR45 2 0 0 0 0 2
WDR73 0 2 0 0 0 2
ZMYM2 1 0 1 0 0 2
ZMYND11 0 0 2 0 0 2
ZNF462 1 0 1 0 0 2
ZNF469 0 0 2 0 0 2
ABCA1 0 1 0 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 1
ABCC2 0 0 1 0 0 1
ABCC9 0 0 1 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ABL1 0 1 0 0 0 1
ACAD9, LOC126806807 0 0 1 0 0 1
ACADVL 0 1 0 0 0 1
ACO2, POLR3H 0 1 0 0 0 1
ACSL4 0 1 0 0 0 1
ACTA2 0 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG2 0 1 0 0 0 1
ACTL6B 0 1 0 0 0 1
ACTN2 0 0 1 0 0 1
ACVR1 1 0 0 0 0 1
ADAR 0 1 0 0 0 1
ADGRV1 0 0 1 0 0 1
ADSS1 0 1 0 0 0 1
AFF3 0 0 1 0 0 1
AFG2B 0 0 1 0 0 1
AFG3L2 0 0 1 0 0 1
ALS2 0 0 1 0 0 1
ANK2, LOC126807137 0 0 1 0 0 1
ANK3 0 0 1 0 0 1
ANO3 0 0 1 0 0 1
AP4B1 1 0 0 0 0 1
AP4E1 0 1 0 0 0 1
AR 1 0 0 0 0 1
ARF1, LOC126806039 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARID2 0 0 1 0 0 1
ARL6 0 0 1 0 0 1
ARSB 1 0 0 0 0 1
ARX, LOC109610631 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASL 1 0 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 0 1
ASXL1 0 0 1 0 0 1
ATAD3A 0 0 1 0 0 1
ATP2A2 0 1 0 0 0 1
ATP6V1A 0 0 1 0 0 1
ATP7A 0 0 1 0 0 1
ATXN7L3, UBTF 0 0 1 0 0 1
AUTS2 0 0 0 1 0 1
AVIL, TSFM 0 0 1 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GLCT 1 0 0 0 0 1
B4GAT1 1 0 0 0 0 1
BBS10 1 0 0 0 0 1
BCHE 1 0 0 0 0 1
BHLHA9 0 1 0 0 0 1
BICC1 0 0 1 0 0 1
BICD2 0 0 1 0 0 1
BLM 0 1 0 0 0 1
BRAT1 0 0 1 0 0 1
BRPF1 0 0 1 0 0 1
BRWD3 0 0 1 0 0 1
BTK 0 1 0 0 0 1
CACNA1A, LOC126862866 0 0 1 0 0 1
CACNA1G 0 0 1 0 0 1
CALM2 0 0 1 0 0 1
CAMK2A 0 1 0 0 0 1
CARD8 0 0 1 0 0 1
CASK 0 0 1 0 0 1
CAV3, OXTR 0 1 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CC2D2A 0 0 1 0 0 1
CCM2 0 1 0 0 0 1
CCND2 0 1 0 0 0 1
CDH23 0 1 0 0 0 1
CDK13, LOC129998293 0 0 1 0 0 1
CDK5RAP2 0 1 0 0 0 1
CDKL5, RS1 0 1 0 0 0 1
CDKN1C 0 0 1 0 0 1
CEP57 0 0 1 0 0 1
CEP85L 0 0 1 0 0 1
CEP85L, PLN 0 1 0 0 0 1
CERKL 0 0 1 0 0 1
CFTR, LOC111674463 0 0 1 0 0 1
CHAMP1 0 1 0 0 0 1
CHD1 0 0 1 0 0 1
CHD4 0 1 0 0 0 1
CHRNA2 0 0 1 0 0 1
CIB2, LOC130057683 0 0 1 0 0 1
CIC 0 1 0 0 0 1
CLCN6 0 0 1 0 0 1
CLN6 1 0 0 0 0 1
CNGA3 1 0 0 0 0 1
CNNM2 0 1 0 0 0 1
CNOT1 0 1 0 0 0 1
COL11A2 0 0 1 0 0 1
COL17A1 0 0 1 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COL3A1, LOC126806446 0 0 1 0 0 1
COL7A1 0 1 0 0 0 1
COQ4 0 1 0 0 0 1
CP 0 0 1 0 0 1
CPOX 0 1 0 0 0 1
CPS1 0 1 0 0 0 1
CPT1C 0 0 1 0 0 1
CRIPT 1 0 0 0 0 1
CRPPA 0 0 1 0 0 1
CRX 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CRYBA1 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CRYBB3 0 0 1 0 0 1
CRYGC, LOC100507443 0 0 1 0 0 1
CSF1R 0 1 0 0 0 1
CSGALNACT1 1 0 0 0 0 1
CWF19L1 1 0 0 0 0 1
CYCS 0 1 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
CYP27A1 1 0 0 0 0 1
CYP7B1 0 1 0 0 0 1
DACT1 0 0 1 0 0 1
DAG1 0 1 0 0 0 1
DALRD3 1 0 0 0 0 1
DCX 0 1 0 0 0 1
DEAF1 0 0 1 0 0 1
DEPDC5 0 1 0 0 0 1
DGUOK 1 0 0 0 0 1
DHFR 0 0 1 0 0 1
DHX37 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 1
DISP1 0 0 1 0 0 1
DLG4 0 0 1 0 0 1
DLG4, LOC126862479 1 0 0 0 0 1
DNA2 0 0 1 0 0 1
DNAH11 0 0 1 0 0 1
DNAJB2 0 1 0 0 0 1
DNAJC30, LOC129998603 0 1 0 0 0 1
DNM1, LOC113839516 0 1 0 0 0 1
DNMT1 0 0 1 0 0 1
DOK7 0 1 0 0 0 1
DOK7, LOC126806951 0 0 1 0 0 1
DPY19L2 0 0 1 0 0 1
DPYS 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSG2 0 1 0 0 0 1
DSPP 1 0 0 0 0 1
DVL1 0 1 0 0 0 1
EDA 0 0 1 0 0 1
EFTUD2 0 1 0 0 0 1
EIF3F 0 1 0 0 0 1
EIF3F, LOC126861132 0 0 1 0 0 1
ELANE 0 0 1 0 0 1
ELP1 0 1 0 0 0 1
ELP4, PAX6 0 0 1 0 0 1
EMD 0 1 0 0 0 1
ENG 0 1 0 0 0 1
EPCAM 0 0 1 0 0 1
EPHA2 0 0 1 0 0 1
ERCC2 1 0 0 0 0 1
ETFA 0 1 0 0 0 1
ETFB 0 0 1 0 0 1
EZH2 1 0 0 0 0 1
F7 0 0 1 0 0 1
FA2H, LOC130059394 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FARS2 0 1 0 0 0 1
FBLN5 0 0 1 0 0 1
FBXO11, LOC100506235 0 0 1 0 0 1
FBXO38 0 0 1 0 0 1
FECH 1 0 0 0 0 1
FGA 0 0 1 0 0 1
FGD4 0 1 0 0 0 1
FGF8 0 0 1 0 0 1
FGFR1 1 0 0 0 0 1
FGFR2 1 0 0 0 0 1
FHL1 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FLG 0 1 0 0 0 1
FLNB 0 0 1 0 0 1
FLRT3, MACROD2 0 0 1 0 0 1
FOXF1 0 0 1 0 0 1
FOXP1 0 0 1 0 0 1
FOXP2 0 0 1 0 0 1
FRAS1 0 0 1 0 0 1
FREM2 0 0 1 0 0 1
FRMPD4 0 1 0 0 0 1
FTL 1 0 0 0 0 1
FYCO1 1 0 0 0 0 1
GABRA2 0 0 1 0 0 1
GABRB3 0 0 1 0 0 1
GAN 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
GCH1 1 0 0 0 0 1
GEMIN5 0 1 0 0 0 1
GFAP 0 0 1 0 0 1
GFPT1 0 1 0 0 0 1
GHR 0 0 1 0 0 1
GJA8 0 0 1 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLI1 0 0 1 0 0 1
GLMN 0 1 0 0 0 1
GNAS 1 0 0 0 0 1
GNB5 0 0 1 0 0 1
GOT2 0 0 1 0 0 1
GP1BA 0 1 0 0 0 1
GPC3 0 0 1 0 0 1
GPIHBP1 0 1 0 0 0 1
GPR143 0 0 1 0 0 1
GRHPR 0 1 0 0 0 1
GRIA3 0 0 1 0 0 1
GRIN1 0 0 1 0 0 1
GRM6, ZNF454 0 1 0 0 0 1
GRN 0 0 1 0 0 1
GRN, LOC125177489 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 1 0 0 0 1
HADHB 0 0 1 0 0 1
HARS1 0 1 0 0 0 1
HBA-LCR, NPRL3 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 0 0 1
HCN1 1 0 0 0 0 1
HCN4 0 0 1 0 0 1
HESX1 0 0 1 0 0 1
HEXB 0 1 0 0 0 1
HFE 1 0 0 0 0 1
HINT1 1 0 0 0 0 1
HIVEP2 1 0 0 0 0 1
HJV 0 0 1 0 0 1
HMBS 0 1 0 0 0 1
HNF1B 0 0 1 0 0 1
HNRNPK 0 1 0 0 0 1
HOXB13 0 1 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSALR1, PIEZO1 0 0 1 0 0 1
HSD3B2 0 0 1 0 0 1
HSF4 1 0 0 0 0 1
HSPB8 0 1 0 0 0 1
IDS 0 1 0 0 0 1
IGF1R 0 0 1 0 0 1
IGF2, INS-IGF2 1 0 0 0 0 1
IGSF1 0 0 1 0 0 1
IL36RN 0 0 1 0 0 1
IMPG1 0 0 1 0 0 1
INPPL1 1 0 0 0 0 1
INS 0 1 0 0 0 1
INS, INS-IGF2 0 1 0 0 0 1
INSR 0 0 1 0 0 1
IRF2BPL 0 1 0 0 0 1
ITGA2B 0 0 1 0 0 1
ITGB6 0 0 0 0 1 1
KBTBD13 0 1 0 0 0 1
KCNC3 1 0 0 0 0 1
KCNJ2 1 0 0 0 0 1
KCNK3 0 0 1 0 0 1
KCNN4 1 0 0 0 0 1
KCNQ4 0 0 1 0 0 1
KCNT1 0 1 0 0 0 1
KDM6A 0 1 0 0 0 1
KIAA0586 1 0 0 0 0 1
KIAA1549 0 1 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2A, TTC36 0 0 1 0 0 1
KMT5B 0 0 1 0 0 1
KRT17 1 0 0 0 0 1
L1CAM 0 1 0 0 0 1
LAMA3 0 1 0 0 0 1
LEPR 0 0 1 0 0 1
LGI1 0 0 1 0 0 1
LINS1 0 0 1 0 0 1
LITAF 1 0 0 0 0 1
LMX1B 1 0 0 0 0 1
LOC101928335, MID2 0 0 1 0 0 1
LOC105369889, POC1B 0 1 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107303340, VHL 0 1 0 0 0 1
LOC110121269, SCN5A 1 0 0 0 0 1
LOC110806306, TERC 0 0 1 0 0 1
LOC121627832, TCF4 0 1 0 0 0 1
LOC126806253, STAMBP 0 0 1 0 0 1
LOC126806913, OPA1 0 1 0 0 0 1
LOC126861339, SDHD 1 0 0 0 0 1
LOC126861443, MFAP5 1 0 0 0 0 1
LOC126861615, PAH 1 0 0 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC129929200, TP73 0 0 1 0 0 1
LOC129931299, WARS2 0 0 1 0 0 1
LOC129934333, TMEM127 0 0 1 0 0 1
LOC129935182, TTN 0 1 0 0 0 1
LOC129935594, PNKD 0 1 0 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC130007872, SMARCD1 0 0 1 0 0 1
LOC130008356, POC1B, POC1B-GALNT4 0 1 0 0 0 1
LOC130008987, ORAI1 1 0 0 0 0 1
LOC130009266, POLE 0 0 1 0 0 1
LOC130059156, TK2 0 0 1 0 0 1
LOC130061370, TLK2 0 0 1 0 0 1
LOC130062084, SMCHD1 0 1 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
LOC130064467, SPTBN4 0 1 0 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 1
LRP5 0 0 1 0 0 1
LRTOMT, TOMT 1 0 0 0 0 1
MACF1 0 0 1 0 0 1
MADD 0 1 0 0 0 1
MANBA 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAPK8IP3 0 0 1 0 0 1
MCM8 0 0 1 0 0 1
MCM9 0 1 0 0 0 1
MED12L 0 0 1 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MEGF10 0 1 0 0 0 1
MEGF8 0 0 1 0 0 1
MEIS2 0 1 0 0 0 1
MERTK 1 0 0 0 0 1
MET 0 0 1 0 0 1
MKKS 1 0 0 0 0 1
MMAB 0 1 0 0 0 1
MMAB, MVK 0 0 1 0 0 1
MOCS2 0 1 0 0 0 1
MORC2 0 0 1 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MPZL2 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MT-CO2 0 1 0 0 0 1
MT-ND1 0 0 1 0 0 1
MT-ND6 1 0 0 0 0 1
MT-TE 1 0 0 0 0 1
MT-TS1 0 1 0 0 0 1
MYH14 0 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 0 1
NAA15 0 1 0 0 0 1
NBEA 0 0 1 0 0 1
NDNF 0 1 0 0 0 1
NDST1 0 1 0 0 0 1
NDUFA9 0 0 1 0 0 1
NDUFS6 0 1 0 0 0 1
NDUFS8 0 0 1 0 0 1
NEK1 0 1 0 0 0 1
NEXMIF 0 1 0 0 0 1
NFIA 0 0 1 0 0 1
NFIX 0 0 1 0 0 1
NFKB2 0 1 0 0 0 1
NKIRAS1, RPL15 1 0 0 0 0 1
NKX2-5 0 0 1 0 0 1
NLGN4X 0 0 1 0 0 1
NOBOX 0 0 1 0 0 1
NPHP1 1 0 0 0 0 1
NPRL3 0 0 1 0 0 1
NR0B1 0 1 0 0 0 1
NR3C2 0 1 0 0 0 1
NR5A1 0 1 0 0 0 1
NT5C2 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
OFD1 1 0 0 0 0 1
OGT 0 0 1 0 0 1
OPA3 0 0 1 0 0 1
OPHN1 0 0 1 0 0 1
OTOG 1 0 0 0 0 1
PACS2 0 0 1 0 0 1
PAK1 0 1 0 0 0 1
PAX2 0 1 0 0 0 1
PAX8 1 0 0 0 0 1
PDHX 0 1 0 0 0 1
PDK3 0 0 1 0 0 1
PGK1 0 0 1 0 0 1
PHEX 1 0 0 0 0 1
PHF6 0 0 1 0 0 1
PHKA2 0 0 1 0 0 1
PHKB 0 0 1 0 0 1
PIEZO1 0 0 1 0 0 1
PIGN 0 0 1 0 0 1
PIK3R2 0 0 1 0 0 1
PITX2 0 1 0 0 0 1
PLEKHG5 0 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 0 1
PLXND1 0 0 1 0 0 1
PMP2 0 1 0 0 0 1
PMP22 0 1 0 0 0 1
PNPLA2 0 0 1 0 0 1
POLR2A 0 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
POMGNT1, TSPAN1 1 0 0 0 0 1
POT1 0 0 1 0 0 1
POU3F4 1 0 0 0 0 1
PPP2CA 0 1 0 0 0 1
PPP2R5D 0 1 0 0 0 1
PPP3CA 1 0 0 0 0 1
PRDM16 0 1 0 0 0 1
PREPL 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRKCG 0 1 0 0 0 1
PRKN 0 0 1 0 0 1
PROS1 1 0 0 0 0 1
PRX 1 0 0 0 0 1
PSTPIP1 0 0 1 0 0 1
PTH1R 0 1 0 0 0 1
PUF60 0 1 0 0 0 1
PUM1 0 0 1 0 0 1
QRICH1 1 0 0 0 0 1
RAB3GAP1 0 1 0 0 0 1
RAG1 0 1 0 0 0 1
RAI1 1 0 0 0 0 1
RALGAPA1 0 0 1 0 0 1
RAPSN 1 0 0 0 0 1
RARS2 0 1 0 0 0 1
RHO 0 1 0 0 0 1
RHOBTB2 0 1 0 0 0 1
RORB 0 1 0 0 0 1
RPGRIP1 1 0 0 0 0 1
RRM2B 0 0 1 0 0 1
RUNX1 0 0 1 0 0 1
SATB2 0 1 0 0 0 1
SCN11A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SEC23B 1 0 0 0 0 1
SERPINC1 1 0 0 0 0 1
SERPINF1 0 1 0 0 0 1
SETD1A 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SHOX 0 0 1 0 0 1
SHROOM4 0 0 1 0 0 1
SIL1 1 0 0 0 0 1
SIX1 0 1 0 0 0 1
SLC12A2 0 0 1 0 0 1
SLC12A5 0 0 1 0 0 1
SLC1A3 0 0 1 0 0 1
SLC20A2 0 0 1 0 0 1
SLC25A1 1 0 0 0 0 1
SLC25A32 0 1 0 0 0 1
SLC26A8 0 0 1 0 0 1
SLC2A1, SLC2A1-DT 1 0 0 0 0 1
SLC38A8 0 0 1 0 0 1
SLC6A8 0 1 0 0 0 1
SMAD2 0 1 0 0 0 1
SMAD9 0 0 1 0 0 1
SMARCA4 0 1 0 0 0 1
SMC1A 0 0 1 0 0 1
SNRNP200 0 0 1 0 0 1
SOD1, SOD1-DT 1 0 0 0 0 1
SON 1 0 0 0 0 1
SOS2 0 0 1 0 0 1
SOX9 0 1 0 0 0 1
SPINK1 1 0 0 0 0 1
SPOP 0 0 1 0 0 1
SPTA1 0 0 1 0 0 1
SPTAN1 1 0 0 0 0 1
SPTBN1 0 0 1 0 0 1
SPTBN4 0 0 1 0 0 1
SQSTM1 0 0 1 0 0 1
SRD5A2 0 1 0 0 0 1
STAG3 0 1 0 0 0 1
STX1B 0 0 1 0 0 1
STXBP2 0 1 0 0 0 1
SUFU 0 0 1 0 0 1
SUOX 0 1 0 0 0 1
SYN2 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
SYNE2 0 0 1 0 0 1
SYNJ1 0 0 1 0 0 1
SYP 0 0 1 0 0 1
SYT1 0 1 0 0 0 1
TBC1D24 0 1 0 0 0 1
TBCE 0 0 1 0 0 1
TBCK 0 0 1 0 0 1
TBX1 0 0 1 0 0 1
TBX3 0 1 0 0 0 1
TBX5 0 1 0 0 0 1
TBXAS1 0 0 1 0 0 1
TCAP 0 1 0 0 0 1
TCF4 0 1 0 0 0 1
TCTN3 0 1 0 0 0 1
TERT 0 0 1 0 0 1
TEX14 0 0 1 0 0 1
TGFBI 1 0 0 0 0 1
TH 0 0 1 0 0 1
THAP1 0 1 0 0 0 1
THOC2 0 0 1 0 0 1
THRA 0 0 1 0 0 1
TMEM127 0 1 0 0 0 1
TMLHE 0 0 1 0 0 1
TMPRSS3 0 1 0 0 0 1
TNNI2 0 0 1 0 0 1
TNNT3 1 0 0 0 0 1
TNPO2 0 0 1 0 0 1
TNRC6B 0 0 1 0 0 1
TOPORS 1 0 0 0 0 1
TOR1A 1 0 0 0 0 1
TPM1 1 0 0 0 0 1
TPM2 1 0 0 0 0 1
TPP1 1 0 0 0 0 1
TRAPPC11 0 1 0 0 0 1
TRAPPC9 1 0 0 0 0 1
TRIM71 0 0 1 0 0 1
TRMU 0 0 1 0 0 1
TRPA1 0 0 1 0 0 1
TRPM3 1 0 0 0 0 1
TRPM6 1 0 0 0 0 1
TRPV4 0 0 1 0 0 1
TTBK2 0 0 1 0 0 1
TUBB4A 0 1 0 0 0 1
TUBGCP6 0 1 0 0 0 1
TUFM 0 0 1 0 0 1
TULP1 0 1 0 0 0 1
TWNK 0 1 0 0 0 1
UBR1 1 0 0 0 0 1
UNC13A 0 1 0 0 0 1
USP7 0 1 0 0 0 1
USP9X 0 0 1 0 0 1
VARS1 0 0 1 0 0 1
VHL 1 0 0 0 0 1
VMA21 0 0 1 0 0 1
VPS13A 1 0 0 0 0 1
VPS4A 0 0 1 0 0 1
WARS1 0 0 1 0 0 1
WAS 0 1 0 0 0 1
WASF1 0 0 1 0 0 1
WDR19 0 1 0 0 0 1
WDR37 0 0 1 0 0 1
WDR62 1 0 0 0 0 1
WT1 0 1 0 0 0 1
XPA 1 0 0 0 0 1
YWHAG 0 0 1 0 0 1
ZBTB18 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZC4H2 0 1 0 0 0 1
ZEB2 0 1 0 0 0 1
ZFYVE27 0 0 1 0 0 1
ZMIZ1 0 1 0 0 0 1
ZMPSTE24 1 0 0 0 0 1
ZNF292 0 0 1 0 0 1
ZP1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1129
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 41 33 140 91 8 313
Neurofibromatosis, type 1 29 10 18 0 0 57
Breast-ovarian cancer, familial, susceptibility to, 2 28 8 0 1 0 37
Breast-ovarian cancer, familial, susceptibility to, 1 25 6 0 0 0 31
Hypercholesterolemia, familial, 1 9 11 3 0 0 23
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9 7 6 0 0 22
Lynch syndrome 5 7 6 8 0 0 21
Central core myopathy 4 5 10 0 0 19
Bethlem myopathy 1 1 6 10 0 0 17
Colorectal cancer, susceptibility to, 12 0 0 17 0 0 17
Severe early-childhood-onset retinal dystrophy 9 6 2 0 0 17
Congenital myotonia, autosomal recessive form 8 4 4 0 0 16
Cystic fibrosis 8 2 6 0 0 16
Familial adenomatous polyposis 1 3 9 4 0 0 16
Polycystic kidney disease, adult type 8 1 7 0 0 16
Lynch syndrome 1 5 3 7 0 0 15
Lynch syndrome 4 5 4 6 0 0 15
Peutz-Jeghers syndrome 2 1 12 0 0 15
Beta-thalassemia HBB/LCRB 13 0 1 0 0 14
Breast-ovarian cancer, familial, susceptibility to, 4 2 2 10 0 0 14
Colorectal cancer, hereditary nonpolyposis, type 2 7 2 5 0 0 14
Ehlers-Danlos syndrome, classic type, 1 0 3 10 1 0 14
Familial adenomatous polyposis 2 5 1 8 0 0 14
Marfan syndrome 1 7 6 0 0 14
Autosomal dominant optic atrophy classic form 5 4 4 0 0 13
Autosomal recessive limb-girdle muscular dystrophy type 2A 7 3 3 0 0 13
Autosomal recessive limb-girdle muscular dystrophy type 2L 5 4 4 0 0 13
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 12 0 0 13
Hereditary spastic paraplegia 7 3 5 5 0 0 13
Malignant hyperthermia, susceptibility to, 1 2 3 8 0 0 13
Severe myoclonic epilepsy in infancy 5 6 2 0 0 13
Familial Mediterranean fever 4 2 6 0 0 12
Familial hypokalemia-hypomagnesemia 3 5 4 0 0 12
Hereditary spastic paraplegia 4 2 6 4 0 0 12
Phelan-McDermid syndrome 2 4 6 0 0 12
Schwannomatosis 2 3 8 1 0 0 12
KBG syndrome 4 5 2 0 0 11
Li-Fraumeni syndrome 1 5 0 6 0 0 11
Long QT syndrome 1 8 3 0 0 0 11
Paramyotonia congenita of Von Eulenburg 3 1 7 0 0 11
Tuberous sclerosis 1 6 2 3 0 0 11
Tyrosinase-negative oculocutaneous albinism 6 4 1 0 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 4 4 0 0 10
Glycogen storage disease, type II 5 1 4 0 0 10
Hereditary leiomyomatosis and renal cell cancer 4 4 2 0 0 10
Noonan syndrome 1 8 2 0 0 0 10
Sotos syndrome 3 3 4 0 0 10
Tuberous sclerosis 2 3 0 7 0 0 10
Arrhythmogenic right ventricular dysplasia 2 0 0 9 0 0 9
Autosomal recessive nonsyndromic hearing loss 1A 9 0 0 0 0 9
Charcot-Marie-Tooth disease X-linked dominant 1 5 4 0 0 0 9
Cowden syndrome 1 5 3 1 0 0 9
Duchenne muscular dystrophy 2 3 4 0 0 9
Hereditary pancreatitis 3 0 6 0 0 9
Retinitis pigmentosa 25 2 6 1 0 0 9
Tyrosinase-positive oculocutaneous albinism 3 4 2 0 0 9
CHARGE association 0 3 5 0 0 8
Colorectal cancer, susceptibility to, 10 0 0 8 0 0 8
Congenital bilateral aplasia of vas deferens from CFTR mutation 3 2 3 0 0 8
Maturity-onset diabetes of the young type 2 1 5 2 0 0 8
Polycystic kidney disease 2 7 1 0 0 0 8
Acyl-CoA dehydrogenase 9 deficiency 0 5 2 0 0 7
Amyotrophic lateral sclerosis type 1 1 4 2 0 0 7
Birt-Hogg-Dube syndrome 3 4 0 0 0 7
Brugada syndrome 1 1 2 4 0 0 7
Developmental and epileptic encephalopathy, 42 1 2 4 0 0 7
Ehlers-Danlos syndrome, type 4 0 1 6 0 0 7
Generalized epilepsy with febrile seizures plus, type 2 0 5 2 0 0 7
Gorlin syndrome 0 6 1 0 0 7
Hereditary diffuse gastric adenocarcinoma 3 1 3 0 0 7
Kabuki syndrome 1 2 1 4 0 0 7
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 2 2 0 0 7
Multiple endocrine neoplasia, type 1 1 4 2 0 0 7
Nemaline myopathy 2 2 4 1 0 0 7
Polycystic kidney disease 4 3 1 3 0 0 7
Tay-Sachs disease 4 0 3 0 0 7
Usher syndrome type 2A 4 1 2 0 0 7
X-linked Alport syndrome 1 4 2 0 0 7
Aortic aneurysm, familial thoracic 4 0 0 6 0 0 6
Ataxia-telangiectasia syndrome 4 1 1 0 0 6
Biotinidase deficiency 3 2 1 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 3 2 2 2 0 0 6
Charcot-Marie-Tooth disease axonal type 2K 2 1 3 0 0 6
Charlevoix-Saguenay spastic ataxia 1 3 2 0 0 6
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 2 3 0 0 6
Congenital myotonia, autosomal dominant form 4 0 2 0 0 6
Galactosylceramide beta-galactosidase deficiency 1 3 2 0 0 6
Hereditary spastic paraplegia 10 0 2 4 0 0 6
Hypertrophic cardiomyopathy 1 1 3 2 0 0 6
Hypertrophic cardiomyopathy 4 2 3 1 0 0 6
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 0 5 0 0 6
Multiple acyl-CoA dehydrogenase deficiency 1 2 3 0 0 6
Neuronopathy, distal hereditary motor, autosomal recessive 8 2 0 4 0 0 6
Osteogenesis imperfecta type I 5 1 0 0 0 6
Paragangliomas 4 5 1 0 0 0 6
Pheochromocytoma 2 3 1 0 0 6
Rett syndrome 5 0 1 0 0 6
Seizures, benign familial neonatal, 1 1 3 2 0 0 6
Stickler syndrome type 1 1 4 1 0 0 6
Wiedemann-Steiner syndrome 1 2 3 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 3 1 0 0 5
Becker muscular dystrophy 1 2 2 0 0 5
Benign familial hematuria 1 4 0 0 0 5
Carnitine palmitoyl transferase II deficiency, myopathic form 2 0 3 0 0 5
DYRK1A-related intellectual disability syndrome 3 2 0 0 0 5
Developmental and epileptic encephalopathy, 11 0 2 3 0 0 5
Episodic ataxia type 2 1 1 3 0 0 5
Facioscapulohumeral muscular dystrophy 2 0 3 2 0 0 5
Familial adenomatous polyposis 3 2 0 3 0 0 5
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 3 2 0 0 5
Juvenile polyposis syndrome 0 2 3 0 0 5
Kleefstra syndrome 2 1 1 3 0 0 5
Mucopolysaccharidosis, MPS-II 3 1 1 0 0 5
Phenylketonuria 3 2 0 0 0 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 2 2 1 0 0 5
Progressive sclerosing poliodystrophy 3 1 1 0 0 5
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 1 2 0 0 5
Snijders Blok-Campeau syndrome 0 1 4 0 0 5
Vitelliform macular dystrophy 2 0 4 1 0 0 5
Wolfram syndrome 1 2 3 0 0 0 5
Adrenoleukodystrophy 0 3 1 0 0 4
Amyotrophic lateral sclerosis type 11 0 2 2 0 0 4
Amyotrophic lateral sclerosis type 4 0 0 4 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 0 0 0 0 4
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2 1 1 0 0 4
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 3 1 0 0 4
Brain small vessel disease 1 with or without ocular anomalies 1 0 3 0 0 4
Childhood onset GLUT1 deficiency syndrome 2 1 2 1 0 0 4
Clark-Baraitser syndrome 1 1 1 1 0 4
Coffin-Siris syndrome 1 1 2 1 0 0 4
Congenital fibrosis of extraocular muscles type 1 1 0 3 0 0 4
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 3 0 0 4
Developmental and epileptic encephalopathy, 2 0 1 3 0 0 4
Developmental and epileptic encephalopathy, 4 3 1 0 0 0 4
Developmental and epileptic encephalopathy, 7 2 2 0 0 0 4
Developmental delay with or without dysmorphic facies and autism 0 0 4 0 0 4
Encephalopathy due to GLUT1 deficiency 2 1 1 0 0 4
Episodic pain syndrome, familial, 2 0 0 4 0 0 4
Familial adenomatous polyposis 4 1 1 2 0 0 4
Glycogen storage disease, type IV 2 2 0 0 0 4
Hyperkalemic periodic paralysis 2 1 1 0 0 4
Hypokalemic periodic paralysis, type 1 0 2 2 0 0 4
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 4 0 0 4
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 1 3 0 0 4
Landau-Kleffner syndrome 0 2 2 0 0 4
Lissencephaly due to TUBA1A mutation 2 2 0 0 0 4
Loeys-Dietz syndrome 1 0 3 1 0 0 4
Malignant tumor of prostate 2 1 1 0 0 4
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 4 0 0 0 4
Multiple endocrine neoplasia, type 2a 2 0 2 0 0 4
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 2 1 0 0 4
Myoclonic dystonia 11 3 0 1 0 0 4
Myosin storage myopathy 0 2 2 0 0 4
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 3 0 0 4
Neuropathy, hereditary sensory and autonomic, type 1C 0 1 3 0 0 4
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2 2 0 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 4 0 0 0 4
Patterned macular dystrophy 1 3 1 0 0 0 4
Seizures, benign familial infantile, 2 2 2 0 0 0 4
Seizures, benign familial infantile, 3 1 0 3 0 0 4
Severe X-linked myotubular myopathy 0 2 2 0 0 4
Shprintzen-Goldberg syndrome 0 1 2 1 0 4
Spinocerebellar ataxia type 5 0 0 4 0 0 4
Tooth agenesis, selective, 4 2 2 0 0 0 4
Alagille syndrome due to a JAG1 point mutation 1 0 2 0 0 3
Aneurysm-osteoarthritis syndrome 0 1 2 0 0 3
Arrhythmogenic right ventricular dysplasia 8 0 2 1 0 0 3
Arrhythmogenic right ventricular dysplasia 9 2 1 0 0 0 3
Autosomal dominant centronuclear myopathy 3 0 0 0 0 3
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 3 0 0 0 3
Autosomal recessive Alport syndrome 1 1 1 0 0 3
Autosomal recessive hypophosphatemic bone disease 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 77 1 1 1 0 0 3
BAP1-related tumor predisposition syndrome 0 1 2 0 0 3
Baraitser-winter syndrome 2 0 1 2 0 0 3
Bethlem myopathy 2 0 1 2 0 0 3
Brown-Vialetto-van Laere syndrome 1 0 1 2 0 0 3
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 2 1 0 0 3
Cardiac arrhythmia, ankyrin-B-related 0 1 2 0 0 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 2 0 0 3
Cerebral cavernous malformation 1 2 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2F 0 1 2 0 0 3
Charcot-Marie-Tooth disease axonal type 2P 0 3 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2T 2 1 0 0 0 3
Charcot-Marie-Tooth disease type 2A2 1 1 1 0 0 3
Charcot-Marie-Tooth disease type 2I 0 1 2 0 0 3
Charcot-Marie-Tooth disease type 4C 1 2 0 0 0 3
Charcot-Marie-Tooth disease, dominant intermediate G 0 0 3 0 0 3
Cobalamin C disease 1 0 2 0 0 3
Colorectal cancer 2 1 0 0 0 3
Combined oxidative phosphorylation defect type 20 1 1 1 0 0 3
Congenital myasthenic syndrome 3B 1 1 1 0 0 3
Cornelia de Lange syndrome 1 0 1 2 0 0 3
Cystinuria 0 2 1 0 0 3
Deficiency of alpha-mannosidase 2 1 0 0 0 3
Deficiency of butyryl-CoA dehydrogenase 1 2 0 0 0 3
Desmin-related myofibrillar myopathy 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 26 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 32 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 59 0 0 3 0 0 3
Dilated cardiomyopathy 1G 1 1 1 0 0 3
Eichsfeld type congenital muscular dystrophy 2 1 0 0 0 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 2 1 0 0 3
Epileptic encephalopathy, infantile or early childhood, 2 0 0 3 0 0 3
Episodic kinesigenic dyskinesia 1 1 1 1 0 0 3
Fabry disease 1 0 2 0 0 3
Familial amyloid neuropathy 1 1 1 0 0 3
Familial juvenile hyperuricemic nephropathy type 1 0 1 2 0 0 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 0 2 0 0 3
GNE myopathy 1 1 1 0 0 3
Glucocorticoid deficiency with achalasia 0 2 1 0 0 3
Glycogen storage disease, type V 2 0 1 0 0 3
Hirschsprung disease, susceptibility to, 1 0 2 1 0 0 3
Ichthyosis vulgaris 1 2 0 0 0 3
Intellectual developmental disorder with autism and macrocephaly 2 0 1 0 0 3
Intellectual developmental disorder with seizures and language delay 0 0 3 0 0 3
Intellectual disability, autosomal dominant 1 0 3 0 0 0 3
Intellectual disability, autosomal dominant 13 0 0 3 0 0 3
Intellectual disability, autosomal dominant 14 0 1 2 0 0 3
Intellectual disability, autosomal dominant 39 0 3 0 0 0 3
Intellectual disability, autosomal dominant 5 0 2 1 0 0 3
Intellectual disability, autosomal dominant 55, with seizures 0 1 2 0 0 3
Intellectual disability, autosomal dominant 6 0 1 2 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 0 1 0 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 2 1 0 0 3
Intellectual disability-strabismus syndrome 0 0 3 0 0 3
Kleefstra syndrome 1 1 2 0 0 0 3
Knobloch syndrome 1 2 1 0 0 0 3
Leber congenital amaurosis 13 1 1 1 0 0 3
Left ventricular noncompaction 10 2 1 0 0 0 3
Legius syndrome 0 3 0 0 0 3
Loeys-Dietz syndrome 4 1 2 0 0 0 3
Luscan-Lumish syndrome 0 0 3 0 0 3
Macular corneal dystrophy 1 0 2 0 0 3
Maturity-onset diabetes of the young type 3 2 0 1 0 0 3
Melanoma, cutaneous malignant, susceptibility to, 2 2 1 0 0 0 3
Merosin deficient congenital muscular dystrophy 2 1 0 0 0 3
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 0 1 0 3
Migraine, familial hemiplegic, 2 0 0 3 0 0 3
Mismatch repair cancer syndrome 4 1 1 1 0 0 3
Mucopolysaccharidosis, MPS-IV-B 0 2 1 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 1 1 0 0 3
Myoclonic-astatic epilepsy 0 2 1 0 0 3
Neurodevelopmental disorder with or without autism or seizures 1 2 0 0 0 3
Neurofibromatosis, type 2 1 0 2 0 0 3
Neuronopathy, distal hereditary motor, type 5C 1 0 2 0 0 3
O'Donnell-Luria-Rodan syndrome 1 1 1 0 0 3
Optic atrophy 9 0 1 2 0 0 3
Ornithine carbamoyltransferase deficiency 2 0 1 0 0 3
Osteogenesis imperfecta, recessive perinatal lethal 1 2 0 0 0 3
Paragangliomas 1 1 1 1 0 0 3
Pleuropulmonary blastoma 0 1 2 0 0 3
Proximal myopathy with extrapyramidal signs 1 1 1 0 0 3
Retinitis pigmentosa 1 0 1 2 0 0 3
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 2 0 0 3
Smith-Lemli-Opitz syndrome 1 2 0 0 0 3
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 3 0 0 0 3
Stickler syndrome type 2 0 0 3 0 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 0 2 1 0 0 3
TNF receptor-associated periodic fever syndrome (TRAPS) 0 3 0 0 0 3
Telangiectasia, hereditary hemorrhagic, type 2 2 1 0 0 0 3
Type 2 diabetes mellitus 0 1 2 0 0 3
VEXAS syndrome 0 3 0 0 0 3
Vanishing white matter disease 1 0 2 0 0 3
Wolfram-like syndrome 0 1 2 0 0 3
X-linked cone-rod dystrophy 1 2 1 0 0 0 3
2-aminoadipic 2-oxoadipic aciduria 0 1 1 0 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 1 0 0 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 1 0 0 2
ALG8 congenital disorder of glycosylation 0 0 2 0 0 2
Aarskog syndrome 0 1 1 0 0 2
Achondroplasia 2 0 0 0 0 2
Adenylosuccinate lyase deficiency 1 0 1 0 0 2
Adult hypophosphatasia 0 1 1 0 0 2
Aicardi-Goutieres syndrome 2 0 1 1 0 0 2
Alagille syndrome due to a NOTCH2 point mutation 0 0 2 0 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 0 2
Alpha-1-antitrypsin deficiency 1 1 0 0 0 2
Alpha-methylacyl-CoA racemase deficiency 0 1 1 0 0 2
Alstrom syndrome 1 1 0 0 0 2
Alternating hemiplegia of childhood 2 1 1 0 0 0 2
Alzheimer disease 3 1 1 0 0 0 2
Amyotrophic lateral sclerosis type 10 1 1 0 0 0 2
Angelman syndrome 1 0 1 0 0 2
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 1 0 0 0 2
Aortic aneurysm, familial thoracic 7 0 0 2 0 0 2
Aortic valve disease 1 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 12 0 0 2 0 0 2
Asphyxiating thoracic dystrophy 3 0 0 2 0 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 22 0 1 1 0 0 2
Autosomal dominant slowed nerve conduction velocity 0 0 2 0 0 2
Autosomal recessive Kenny-Caffey syndrome 0 0 2 0 0 2
Autosomal recessive distal spinal muscular atrophy 1 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 4 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 74 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 84B 1 1 0 0 0 2
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 0 2 0 0 2
Beck-Fahrner syndrome 0 1 1 0 0 2
Branchiootic syndrome 1 0 2 0 0 0 2
Brittle cornea syndrome 1 0 0 2 0 0 2
Brody myopathy 0 1 1 0 0 2
CBL-related disorder 0 1 1 0 0 2
CEBALID syndrome 1 1 0 0 0 2
Cataract 9 multiple types 1 1 0 0 0 2
Cerebellar ataxia; Gonadal dysgenesis; Progressive spastic paraparesis; Abnormal basal ganglia MRI signal intensity 1 1 0 0 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 1 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2N 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 1 0 2
Charcot-Marie-Tooth disease dominant intermediate B 0 1 1 0 0 2
Charcot-Marie-Tooth disease type 1B 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4A 1 1 0 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 1 0 0 2
Childhood hypophosphatasia 1 1 0 0 0 2
Coffin-Siris syndrome 12 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 6 1 1 0 0 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 0 0 2
Cone dystrophy 4 0 0 2 0 0 2
Cone-rod dystrophy 12 2 0 0 0 0 2
Cone-rod dystrophy 20 0 2 0 0 0 2
Congenital contractural arachnodactyly 0 2 0 0 0 2
Congenital disorder of glycosylation, type iit 0 0 2 0 0 2
Congenital dyserythropoietic anemia, type II 2 0 0 0 0 2
Congenital muscular dystrophy due to LMNA mutation 0 1 1 0 0 2
Congenital myasthenic syndrome 10 0 1 1 0 0 2
Congenital myasthenic syndrome 12 0 1 1 0 0 2
Congenital myasthenic syndrome 16 0 1 1 0 0 2
Congenital myasthenic syndrome 4A 0 1 1 0 0 2
Congenital myasthenic syndrome 5 1 1 0 0 0 2
Congenital myopathy with fiber type disproportion 1 0 1 0 0 2
Congenital stationary night blindness 1A 0 2 0 0 0 2
Congenital stationary night blindness 2A 1 1 0 0 0 2
Cortical dysplasia-focal epilepsy syndrome 0 0 2 0 0 2
Crigler-Najjar syndrome type 1 0 0 2 0 0 2
Cytochrome-c oxidase deficiency disease 0 0 2 0 0 2
DeSanto-Shinawi syndrome due to WAC point mutation 0 1 1 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 0 2
Deficiency of steroid 17-alpha-monooxygenase 2 0 0 0 0 2
Developmental and epileptic encephalopathy 94 1 1 0 0 0 2
Developmental and epileptic encephalopathy 99 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 13 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 17 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 46 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 67 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 9 0 0 1 1 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 0 2
Dias-Logan syndrome 0 1 1 0 0 2
Dilated cardiomyopathy 1A 0 2 0 0 0 2
Dilated cardiomyopathy 1EE 0 0 2 0 0 2
Dilated cardiomyopathy 1S 0 1 1 0 0 2
Dyskinesia with orofacial involvement, autosomal dominant 0 0 2 0 0 2
Dystonia 28, childhood-onset 0 0 2 0 0 2
Early-onset myopathy with fatal cardiomyopathy 0 1 1 0 0 2
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 0 1 0 0 2
Ectopia lentis 2, isolated, autosomal recessive 1 1 0 0 0 2
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 2 0 0 0 2
Ehlers-Danlos syndrome, classic type, 2 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 3 0 1 1 0 0 2
Epilepsy, progressive myoclonic, 11 0 1 0 1 0 2
Episodic ataxia type 1 0 1 1 0 0 2
Episodic ataxia, type 9 0 0 2 0 0 2
Ethylmalonic encephalopathy 1 0 1 0 0 2
Exostoses, multiple, type 1 1 1 0 0 0 2
Exostoses, multiple, type 2 0 1 1 0 0 2
Familial cold autoinflammatory syndrome 2 0 0 2 0 0 2
Familial medullary thyroid carcinoma 1 1 0 0 0 2
Familial type 5 hyperlipoproteinemia 2 0 0 0 0 2
Febrile seizures, familial, 8 0 0 2 0 0 2
Feingold syndrome type 1 1 0 1 0 0 2
Frontotemporal dementia 0 1 1 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 2 0 0 2
Galloway-Mowat syndrome 1 0 2 0 0 0 2
Gilbert syndrome 0 0 2 0 0 2
Glaucoma, primary closed-angle 0 0 2 0 0 2
Glycogen storage disease IXd 0 0 2 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 15 0 1 1 0 0 2
Greenberg dysplasia 0 0 2 0 0 2
Hereditary spastic paraplegia 2 1 1 0 0 0 2
Hereditary spastic paraplegia 3A 0 1 1 0 0 2
Hereditary spastic paraplegia 54 0 2 0 0 0 2
Hereditary spastic paraplegia 56 0 1 1 0 0 2
Hereditary spherocytosis type 2 1 1 0 0 0 2
Heterotaxy, visceral, 9, autosomal, with male infertility 0 1 1 0 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 2 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 1 0 0 2
Hypercholesterolemia, autosomal dominant, type B 0 0 2 0 0 2
Hyperparathyroidism 2 with jaw tumors 1 1 0 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 1 1 0 0 0 2
Hypertrophic cardiomyopathy 7 0 1 1 0 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia 2 0 0 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 0 2 0 0 0 2
Hypotonia, ataxia, and delayed development syndrome 0 1 1 0 0 2
Imerslund-Grasbeck syndrome type 1 0 1 1 0 0 2
Infantile GM1 gangliosidosis 1 1 0 0 0 2
Intellectual developmental disorder 62 1 0 1 0 0 2
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 1 0 0 0 2
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 2 0 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 1 1 0 0 2
Intellectual developmental disorder, autosomal recessive 67 0 1 1 0 0 2
Intellectual disability, X-linked 102 0 1 1 0 0 2
Intellectual disability, X-linked 61 0 1 1 0 0 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 0 0 2
Intellectual disability, autosomal dominant 15 0 1 1 0 0 2
Intellectual disability, autosomal dominant 30 0 0 2 0 0 2
Intellectual disability, autosomal dominant 42 0 2 0 0 0 2
Intellectual disability, autosomal dominant 47 0 2 0 0 0 2
Intellectual disability, autosomal dominant 52 0 1 1 0 0 2
Intellectual disability, autosomal dominant 56 0 1 1 0 0 2
Intellectual disability, autosomal dominant 9 1 1 0 0 0 2
Iron-refractory iron deficiency anemia 0 1 1 0 0 2
Junctional epidermolysis bullosa with pyloric atresia 0 0 2 0 0 2
L-2-hydroxyglutaric aciduria 0 2 0 0 0 2
Lamb-Shaffer syndrome 1 1 0 0 0 2
Leber congenital amaurosis 10 2 0 0 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 0 1 1 0 0 2
Loeys-Dietz syndrome 2 0 0 2 0 0 2
Long QT syndrome 11 0 0 2 0 0 2
Long QT syndrome 2 1 0 1 0 0 2
Lymphatic malformation 6 0 0 2 0 0 2
MERRF syndrome 1 0 1 0 0 2
Macrocephaly, acquired, with impaired intellectual development 0 2 0 0 0 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 2 0 0 2
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 1 1 0 0 2
Maturity-onset diabetes of the young type 1 0 0 2 0 0 2
Maturity-onset diabetes of the young type 10 0 2 0 0 0 2
Meckel syndrome, type 4 1 0 0 1 0 2
Menke-Hennekam syndrome 1 0 0 1 1 0 2
Metachromatic leukodystrophy 1 0 1 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 1 1 0 0 2
Methylmalonic aciduria, cblB type 0 1 1 0 0 2
Microcephaly 5, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 9, primary, autosomal recessive 2 0 0 0 0 2
Microcephaly, short stature, and impaired glucose metabolism 1 0 2 0 0 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 1 0 0 0 2
Mitochondrial DNA depletion syndrome 1 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2 0 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 19 1 1 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 31 0 1 1 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 6 0 0 2 0 0 2
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 2 0 0 0 0 2
Mucopolysaccharidosis, MPS-I-H/S 1 1 0 0 0 2
Muir-Torré syndrome 1 0 1 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2 0 0 0 0 2
Multiple epiphyseal dysplasia type 1 0 2 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 2 0 0 2
Myofibrillar myopathy 3 1 1 0 0 0 2
Nance-Horan syndrome 0 2 0 0 0 2
Nemaline myopathy 8 0 1 1 0 0 2
Neurodegeneration with brain iron accumulation 5 2 0 0 0 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 2 0 0 0 2
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 1 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 1 0 0 2
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 2 0 0 0 2
Neurodevelopmental disorder with poor language and loss of hand skills 0 1 1 0 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 1 0 0 2
Neuronal ceroid lipofuscinosis 7 2 0 0 0 0 2
Neuropathy, hereditary sensory, type 2C 1 0 1 0 0 2
Niemann-Pick disease, type A 1 1 0 0 0 2
Nizon-Isidor syndrome 0 0 2 0 0 2
Noonan syndrome 10 2 0 0 0 0 2
Noonan syndrome 8 2 0 0 0 0 2
Occult macular dystrophy 0 1 1 0 0 2
Oculocutaneous albinism type 1B 1 1 0 0 0 2
Odonto-onycho-dermal dysplasia 0 2 0 0 0 2
Okur-Chung neurodevelopmental syndrome 2 0 0 0 0 2
Oligodontia-cancer predisposition syndrome 0 1 1 0 0 2
Pancreatic cancer, susceptibility to, 3 0 1 1 0 0 2
Paragangliomas 5 2 0 0 0 0 2
Parkinsonism-dystonia 3, childhood-onset 0 1 1 0 0 2
Periventricular nodular heterotopia 9 0 0 2 0 0 2
Peroxisome biogenesis disorder 5B 1 0 1 0 0 2
Perrault syndrome 4 0 1 1 0 0 2
Pitt-Hopkins syndrome 0 2 0 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 0 2 0 0 0 2
Pontocerebellar hypoplasia type 1B 2 0 0 0 0 2
Pontocerebellar hypoplasia type 2A 1 0 1 0 0 2
Posterior column ataxia-retinitis pigmentosa syndrome 0 0 2 0 0 2
Potassium-aggravated myotonia 1 1 0 0 0 2
Primary ciliary dyskinesia 13 1 0 1 0 0 2
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 0 2 0 0 2
Proline dehydrogenase deficiency 0 0 2 0 0 2
Pseudo-Hurler polydystrophy 1 1 0 0 0 2
Pyridoxine-dependent epilepsy 2 0 0 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 1 1 0 0 0 2
Radio-Tartaglia syndrome 1 1 0 0 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 1 1 0 0 2
Retinitis pigmentosa 12 1 1 0 0 0 2
Retinitis pigmentosa 43 0 2 0 0 0 2
Retinitis pigmentosa 56 0 1 1 0 0 2
Retinitis pigmentosa 73 1 0 1 0 0 2
Retinitis pigmentosa 80 1 0 1 0 0 2
Retinitis pigmentosa 87 with choroidal involvement 0 0 2 0 0 2
Rippling muscle disease 2 1 1 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 2 0 0 2
Schaaf-Yang syndrome 1 0 1 0 0 2
Severe intellectual disability-progressive spastic diplegia syndrome 2 0 0 0 0 2
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 1 0 0 2
Spermatogenic failure 34 0 1 1 0 0 2
Spinocerebellar ataxia type 29 1 1 0 0 0 2
Stromme syndrome 0 1 1 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 0 1 1 0 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 2 0 0 0 2
Timothy syndrome 0 0 2 0 0 2
Usher syndrome type 1 1 1 0 0 0 2
Van Maldergem syndrome 1 0 1 1 0 0 2
Von Hippel-Lindau syndrome 1 1 0 0 0 2
Weiss-kruszka syndrome 1 0 1 0 0 2
Wilson disease 2 0 0 0 0 2
X-linked intellectual disability Cabezas type 0 1 1 0 0 2
X-linked intellectual disability, van Esch type 0 0 2 0 0 2
Xeroderma pigmentosum, group F 0 2 0 0 0 2
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 1 0 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 1 0 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 0 1 0 0 0 1
46,XY sex reversal 11 0 0 1 0 0 1
4p partial monosomy syndrome 0 1 0 0 0 1
8q24.3 microdeletion syndrome 0 1 0 0 0 1
Absence seizure 0 0 1 0 0 1
Achromatopsia 2 1 0 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 0 0 1 0 0 1
Actin accumulation myopathy 0 1 0 0 0 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 0 1 0 0 1
Acute intermittent porphyria 0 1 0 0 0 1
Aicardi-Goutieres syndrome 6 0 1 0 0 0 1
Alexander disease 0 0 1 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 0 1 0 0 1
Amelogenesis imperfecta type 1H 0 0 0 0 1 1
Aminoacylase 1 deficiency 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 5 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 6 0 0 1 0 0 1
Androgen resistance syndrome 1 0 0 0 0 1
Aniridia 1 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 11, susceptibility to 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 9 1 0 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 0 1
Arterial calcification, generalized, of infancy, 2 0 0 1 0 0 1
Arthrogryposis, distal, type 2B2 1 0 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 1 0 0 0 0 1
Asperger syndrome, X-linked, susceptibility to, 2 0 0 1 0 0 1
Au-Kline syndrome 0 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 0 1 0 1
Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 1 0 0 0 1
Autosomal dominant Robinow syndrome 2 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 1 0 0 0 1
Autosomal dominant hypocalcemia 1 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 2A 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 0 0 1
Autosomal dominant vitreoretinochoroidopathy 0 1 0 0 0 1
Autosomal recessive DOPA responsive dystonia 0 0 1 0 0 1
Autosomal recessive Parkinson disease 14 0 0 1 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 53 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 14 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 17 1 0 0 0 0 1
Axenfeld-Rieger syndrome type 1 0 1 0 0 0 1
Ayme-Gripp syndrome 0 0 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 0 1
Bardet-Biedl syndrome 3 0 0 1 0 0 1
Bardet-Biedl syndrome 6 1 0 0 0 0 1
Benign concentric annular macular dystrophy 0 0 1 0 0 1
Benign recurrent intrahepatic cholestasis type 1 1 0 0 0 0 1
Benign recurrent intrahepatic cholestasis type 2 0 0 1 0 0 1
Bernard Soulier syndrome 0 1 0 0 0 1
Beta-D-mannosidosis 0 0 1 0 0 1
Birk-Barel syndrome 1 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 1
Bloom syndrome 0 1 0 0 0 1
Bohring-Opitz syndrome 0 0 1 0 0 1
Bone mineral density quantitative trait locus 1 0 0 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 0 1
Branchiootic syndrome 3 0 1 0 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 0 1
Camptomelic dysplasia 0 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Cataract 1 multiple types 0 0 1 0 0 1
Cataract 10 multiple types 0 0 1 0 0 1
Cataract 16 multiple types 0 0 1 0 0 1
Cataract 18 1 0 0 0 0 1
Cataract 2, multiple types 0 0 1 0 0 1
Cataract 21 multiple types 0 0 1 0 0 1
Cataract 22 multiple types 0 0 1 0 0 1
Cataract 3 multiple types 0 0 1 0 0 1
Cataract 5 multiple types 1 0 0 0 0 1
Cataract 6 multiple types 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 1 0 0 0 0 1
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 0 1 0 0 1
Cerebral cavernous malformation 2 0 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 1 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2L 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2S 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2X 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 0 1 0 0 1
Charcot-Marie-Tooth disease recessive intermediate C 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1C 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4F 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4H 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4J 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4K 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type IA 0 1 0 0 0 1
Childhood apraxia of speech 0 0 1 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 1
Cholestanol storage disease 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 10 0 0 1 0 0 1
Chorea-acanthocytosis 1 0 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 0 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 0 0 1
Ciliary dyskinesia, primary, 47, and lissencephaly 0 0 1 0 0 1
Coffin-Siris syndrome 11 0 0 1 0 0 1
Coffin-Siris syndrome 6 0 0 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 14 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 4 0 0 1 0 0 1
Cone dystrophy 3 0 1 0 0 0 1
Cone-rod dystrophy 2 0 0 1 0 0 1
Congenital adrenal hypoplasia, X-linked 0 1 0 0 0 1
Congenital disorder of glycosylation, type IAA 0 1 0 0 0 1
Congenital factor VII deficiency 0 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 0 1
Congenital hyperammonemia, type I 0 1 0 0 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 1 0 0 0 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 0 0 0 0 1
Congenital microvillous atrophy 0 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 1
Congenital myasthenic syndrome 11 1 0 0 0 0 1
Congenital myasthenic syndrome 4B 0 1 0 0 0 1
Congenital myasthenic syndrome 4C 0 0 1 0 0 1
Congenital myopathy 23 1 0 0 0 0 1
Congenital myopathy 4B, autosomal recessive 0 0 1 0 0 1
Congenital nongoitrous hypothryoidism 6 0 0 1 0 0 1
Congenital primary aphakia 1 0 0 0 0 1
Congenital stationary night blindness 1B 0 1 0 0 0 1
Constitutional megaloblastic anemia with severe neurologic disease 0 0 1 0 0 1
Costello syndrome 1 0 0 0 0 1
Cowden syndrome 5 1 0 0 0 0 1
Cowden syndrome 7 1 0 0 0 0 1
Creatine transporter deficiency 0 1 0 0 0 1
Cyclical neutropenia 0 0 1 0 0 1
D,L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
Deeah syndrome 0 1 0 0 0 1
Deficiency of butyrylcholinesterase 1 0 0 0 0 1
Deficiency of ferroxidase 0 0 1 0 0 1
Dehydrated hereditary stomatocytosis 2 1 0 0 0 0 1
Delpire-McNeill syndrome 0 0 1 0 0 1
Dentinogenesis imperfecta type 2 1 0 0 0 0 1
Developmental and epileptic encephalopathy 6B 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 24 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 31 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 33 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 5 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 53 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 56 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 78 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 82 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 86 1 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 0 0 1
Diabetes mellitus, permanent neonatal 3 0 0 1 0 0 1
Diamond-Blackfan anemia 12 1 0 0 0 0 1
Dihydropyrimidinase deficiency 0 1 0 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 1 0 0 0 1
Dilated cardiomyopathy 1O 0 0 1 0 0 1
Dilated cardiomyopathy 1R 0 0 1 0 0 1
Distal arthrogryposis type 2B1 0 0 1 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 1
Dubin-Johnson syndrome 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 1 0 0 1 0 0 1
Dystonia 12 0 0 1 0 0 1
Dystonia 24 0 0 1 0 0 1
Dystonia 27 1 0 0 0 0 1
Dystonia 5 1 0 0 0 0 1
Dystonia 9 1 0 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasis type 0 0 1 0 0 1
Elliptocytosis 2 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 1
Endometrial carcinoma 1 0 0 0 0 1
Epilepsy, early-onset, with or without developmental delay 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 0 0 1
Epilepsy, familial temporal lobe, 1 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1 1 0 0 0 0 1
Episodic ataxia type 6 0 0 1 0 0 1
Epithelial recurrent erosion dystrophy 0 0 1 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 0 1
Euthyroid goiter 0 0 1 0 0 1
Exercise intolerance, riboflavin-responsive 0 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 0 1
Familial amyloid nephropathy with urticaria AND deafness 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 1 0 1 0 0 0 1
Familial episodic pain syndrome with predominantly upper body involvement 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 1 0 0 0 1
Familial hypocalciuric hypercalcemia 1 0 0 1 0 0 1
Familial spontaneous pneumothorax 0 0 1 0 0 1
Familial visceral amyloidosis, Ostertag type 0 0 1 0 0 1
Fanconi anemia complementation group A 0 1 0 0 0 1
Fanconi anemia complementation group J 1 0 0 0 0 1
Fanconi anemia complementation group N 1 0 0 0 0 1
Febrile seizures, familial, 4 0 0 1 0 0 1
Female infertility due to zona pellucida defect 0 0 1 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 0 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 1 0 0 1
Fraser syndrome 1 0 0 1 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 1 0 0 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 0 0 1 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 0 0 1
Ghosal hematodiaphyseal dysplasia 0 0 1 0 0 1
Giant axonal neuropathy 1 0 0 1 0 0 1
Global developmental delay with or without impaired intellectual development 1 0 0 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 0 1 0 0 1
Glomuvenous malformation 0 1 0 0 0 1
Glycogen storage disease IXa1 0 0 1 0 0 1
Glycogen storage disease IXb 0 0 1 0 0 1
Glycogen storage disease XV 1 0 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 0 0 1 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 0 1
Hao-Fountain syndrome 0 1 0 0 0 1
Harel-Yoon syndrome 0 0 1 0 0 1
Hearing loss, autosomal recessive 111 1 0 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 1
Hemochromatosis type 2A 0 0 1 0 0 1
Hemorrhage, intracerebral, susceptibility to 0 0 1 0 0 1
Hereditary antithrombin deficiency 1 0 0 0 0 1
Hereditary coproporphyria 0 1 0 0 0 1
Hereditary hyperferritinemia with congenital cataracts 1 0 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 1 0 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 0 0 1
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 0 0 1
Hereditary spastic paraplegia 31 0 1 0 0 0 1
Hereditary spastic paraplegia 33 0 0 1 0 0 1
Hereditary spastic paraplegia 35 0 0 1 0 0 1
Hereditary spastic paraplegia 45 0 1 0 0 0 1
Hereditary spastic paraplegia 47 1 0 0 0 0 1
Hereditary spastic paraplegia 51 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 0 1 0 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 1 0 0 1
Holoprosencephaly 3 0 0 1 0 0 1
Holoprosencephaly 7 0 0 1 0 0 1
Holt-Oram syndrome 0 1 0 0 0 1
Hydrocephalus, congenital communicating, 1 0 0 1 0 0 1
Hyperlipoproteinemia, type 1D 0 1 0 0 0 1
Hypertrophic cardiomyopathy 10 0 0 1 0 0 1
Hypertrophic cardiomyopathy 18 0 1 0 0 0 1
Hypertrophic cardiomyopathy 25 0 1 0 0 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 0 1
Hypertrophic cardiomyopathy 3 1 0 0 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Hypoalphalipoproteinemia, primary, 1 0 1 0 0 0 1
Hypochondroplasia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 21 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 25 with anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 6 with or without anosmia 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 1 0 0 1
Hypokalemic periodic paralysis, type 2 1 0 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 1 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 0 1 0 0 1
IMAGe syndrome 0 0 1 0 0 1
Idiopathic basal ganglia calcification 1 0 0 1 0 0 1
Immunodeficiency, common variable, 10 0 1 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 0 1
Infantile neuroaxonal dystrophy 0 0 1 0 0 1
Infantile-onset ascending hereditary spastic paralysis 0 0 1 0 0 1
Inflammatory bowel disease 30 0 0 1 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 0 1 0 0 0 1
Intellectual developmental disorder, X-linked 108 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 1 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 0 1
Intellectual disability, X-linked 101 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 1 0 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 1
Intellectual disability, X-linked 63 0 1 0 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 0 1
Intellectual disability, autosomal dominant 38 0 0 1 0 0 1
Intellectual disability, autosomal dominant 40 0 1 0 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 1
Intellectual disability, autosomal dominant 57 0 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 0 1 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 0 1 0 0 1
Intellectual disability, autosomal recessive 46 0 1 0 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 0 0 1
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 0 1 0 0 0 1
Intestinal hypomagnesemia 1 1 0 0 0 0 1
Isolated cryptophthalmia 0 0 1 0 0 1
Johanson-Blizzard syndrome 1 0 0 0 0 1
Joubert syndrome 18 0 1 0 0 0 1
Joubert syndrome 23 1 0 0 0 0 1
Joubert syndrome 32 0 0 1 0 0 1
Joubert syndrome 9 0 0 1 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 1
Juvenile retinoschisis 0 1 0 0 0 1
KINSSHIP syndrome 0 0 1 0 0 1
Kabuki syndrome 2 0 1 0 0 0 1
Kearns-Sayre syndrome 0 0 1 0 0 1
Keratosis follicularis 0 1 0 0 0 1
King Denborough syndrome 0 0 1 0 0 1
Kugelberg-Welander disease 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
LEOPARD syndrome 3 0 0 1 0 0 1
Larsen syndrome 0 0 1 0 0 1
Lattice corneal dystrophy Type I 1 0 0 0 0 1
Leber congenital amaurosis 2 1 0 0 0 0 1
Leber congenital amaurosis 6 1 0 0 0 0 1
Leber hereditary optic neuropathy, autosomal recessive 0 1 0 0 0 1
Leber optic atrophy 1 0 0 0 0 1
Leber optic atrophy, susceptibility to 1 0 0 0 0 1
Left ventricular noncompaction 8 0 1 0 0 0 1
Leigh syndrome 1 0 0 0 0 1
Lethal tight skin contracture syndrome 1 0 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy due to POMK deficiency 1 0 0 0 0 1
Lissencephaly 10 0 0 1 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 0 0 1
Long QT syndrome 15 0 0 1 0 0 1
Long QT syndrome 3 0 0 1 0 0 1
Long qt syndrome 8 0 0 1 0 0 1
Lynch syndrome 8 0 0 1 0 0 1
MEGF10-related myopathy 0 1 0 0 0 1
MEGF8-related Carpenter syndrome 0 0 1 0 0 1
MERRF/MELAS overlap syndrome 0 1 0 0 0 1
MYPN-related myopathy 1 0 0 0 0 1
Macrocephaly-autism syndrome 1 0 0 0 0 1
Macular degeneration, age-related, 3 0 0 1 0 0 1
Malan overgrowth syndrome 0 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 5 0 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 0 1
Marden-Walker syndrome 0 0 1 0 0 1
Marinesco-Sjögren syndrome 1 0 0 0 0 1
Medulloblastoma 0 1 0 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 1 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 9 0 0 1 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 0 1
Menke-Hennekam syndrome 2 0 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 0 1
Mesoaxial synostotic syndactyly with phalangeal reduction 0 1 0 0 0 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 1 0 0 0 1
Microcephaly 18, primary, autosomal dominant 0 1 0 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 0 0 0 0 1
Microcephaly 3, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly and chorioretinopathy 1 0 1 0 0 0 1
Microcephaly-capillary malformation syndrome 0 0 1 0 0 1
Migraine, familial hemiplegic, 1 0 0 1 0 0 1
Mismatch repair cancer syndrome 1 0 0 1 0 0 1
Mismatch repair cancer syndrome 3 0 0 1 0 0 1
Mitochondrial DNA deletion syndrome with progressive myopathy 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 2 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 26 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 9 0 1 0 0 0 1
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 1 0 0 0 1
Mitochondrial trifunctional protein deficiency 0 0 1 0 0 1
Miyoshi muscular dystrophy 3 0 1 0 0 0 1
Mosaic variegated aneuploidy syndrome 2 0 0 1 0 0 1
Mowat-Wilson syndrome 0 1 0 0 0 1
Mucopolysaccharidosis type 6 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 1 0 0 1
Multiple endocrine neoplasia, type 2b 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 0 1 0 0 1
Myasthenic syndrome, congenital, 22 0 1 0 0 0 1
Myhre syndrome 1 0 0 0 0 1
Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 1 0 0 1
Myopathy, distal, 5 0 1 0 0 0 1
Myopathy, distal, 6, adult-onset, autosomal dominant 0 0 1 0 0 1
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 1 0 0 0 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 0 1
Myopathy, tubular aggregate, 2 1 0 0 0 0 1
Nail-patella syndrome 1 0 0 0 0 1
Nemaline myopathy 6 0 1 0 0 0 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 0 0 0 1
Neonatal severe primary hyperparathyroidism 1 0 0 0 0 1
Nephronophthisis 1 1 0 0 0 0 1
Nephrotic syndrome, type 21 0 0 1 0 0 1
Nephrotic syndrome, type 4 0 1 0 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder and language delay with or without structural brain abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 0 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 0 0 0 1
Neurodevelopmental disorder with hearing loss and spasticity 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 0 0 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 5A 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 5B 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 9 0 0 1 0 0 1
Neurooculocardiogenitourinary syndrome 0 0 1 0 0 1
Neutral lipid storage myopathy 0 0 1 0 0 1
Noonan syndrome 7 1 0 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1 0 0 1
Nystagmus 6, congenital, X-linked 0 0 1 0 0 1
Obesity due to leptin receptor gene deficiency 0 0 1 0 0 1
Ocular albinism, type II 0 0 1 0 0 1
Opsismodysplasia 1 0 0 0 0 1
Optic atrophy 3 0 0 1 0 0 1
Orofaciodigital syndrome I 1 0 0 0 0 1
Oromandibular-limb hypogenesis spectrum 0 0 1 0 0 1
Osteogenesis imperfecta type 6 0 1 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 0 1
Ovarian dysgenesis 1 0 0 1 0 0 1
Ovarian hyperstimulation syndrome 0 0 1 0 0 1
Pachyonychia congenita 2 1 0 0 0 0 1
Pallister-Hall syndrome 0 0 1 0 0 1
Papillary renal cell carcinoma type 1 0 0 1 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 1 0 0 0 1
Pendred syndrome 1 0 0 0 0 1
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 1 0 0 1
Periventricular nodular heterotopia 8 0 0 1 0 0 1
Perlman syndrome 0 0 1 0 0 1
Permanent neonatal diabetes mellitus 1 0 1 0 0 0 1
Peroxisome biogenesis disorder 2B 0 0 1 0 0 1
Peters plus syndrome 1 0 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 1
Platelet-type bleeding disorder 16 0 0 1 0 0 1
Polydactyly, postaxial, type A1 1 0 0 0 0 1
Polydactyly, postaxial, type A8 0 0 1 0 0 1
Polyglucosan body myopathy type 2 0 1 0 0 0 1
Pontocerebellar hypoplasia type 6 0 1 0 0 0 1
Porencephaly 2 0 0 1 0 0 1
Premature ovarian failure 10 0 0 1 0 0 1
Premature ovarian failure 3 1 0 0 0 0 1
Premature ovarian failure 5 0 0 1 0 0 1
Premature ovarian failure 8 0 1 0 0 0 1
Primary ciliary dyskinesia 7 0 0 1 0 0 1
Primary erythromelalgia 0 0 1 0 0 1
Primary failure of tooth eruption 0 1 0 0 0 1
Primary hyperoxaluria, type II 0 1 0 0 0 1
Primrose syndrome 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 0 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 1 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 2 1 0 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 1
Progressive scapulohumeroperoneal distal myopathy 0 0 1 0 0 1
Prostate cancer, hereditary, 9 0 1 0 0 0 1
Protoporphyria, erythropoietic, 1 1 0 0 0 0 1
Pseudohypoparathyroidism type I A 1 0 0 0 0 1
Pseudoxanthoma elasticum, forme fruste 0 0 1 0 0 1
Ptosis; Gait disturbance; Dysarthria; Abnormality of eye movement; Increased circulating lactate concentration; Abnormal CSF lactate concentration 0 0 1 0 0 1
Pulmonary hypertension, primary, 2 0 0 1 0 0 1
Pulmonary hypertension, primary, 4 0 0 1 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 1
Renal dysplasia, cystic, susceptibility to 0 0 1 0 0 1
Retinitis pigmentosa 14 0 1 0 0 0 1
Retinitis pigmentosa 19 0 0 1 0 0 1
Retinitis pigmentosa 26 0 0 1 0 0 1
Retinitis pigmentosa 3 0 1 0 0 0 1
Retinitis pigmentosa 31 1 0 0 0 0 1
Retinitis pigmentosa 33 0 0 1 0 0 1
Retinitis pigmentosa 38 1 0 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 1
Retinitis pigmentosa 79 1 0 0 0 0 1
Retinitis pigmentosa 86 0 1 0 0 0 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 1 0 0 0 1
SHOX-related short stature 0 0 1 0 0 1
Sandhoff disease 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 1
Seizure; Stroke disorder 0 0 0 1 0 1
Senior-Loken syndrome 8 0 1 0 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 0 0 0 1
Septo-optic dysplasia sequence 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 1 0 0 0 1
Short QT syndrome type 3 1 0 0 0 0 1
Short stature due to partial GHR deficiency 0 0 1 0 0 1
Short stature with microcephaly and distinctive facies 1 0 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 0 1 0 0 0 1
Sick sinus syndrome 2, autosomal dominant 0 0 1 0 0 1
Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Silver-Russell syndrome 3 1 0 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 1
Skeletal dysplasia, mild, with joint laxity and advanced bone age 1 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Spermatogenic failure 23 0 0 1 0 0 1
Spermatogenic failure 3 0 0 1 0 0 1
Spermatogenic failure 8 0 1 0 0 0 1
Spermatogenic failure 9 0 0 1 0 0 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 1 0 0 0 1
Spinocerebellar ataxia 47 0 0 1 0 0 1
Spinocerebellar ataxia type 11 0 0 1 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 14 0 1 0 0 0 1
Spinocerebellar ataxia type 15/16 0 0 1 0 0 1
Spinocerebellar ataxia type 28 0 0 1 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 1
Split hand-foot malformation 4 0 1 0 0 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 0 0 1
Spondyloperipheral dysplasia 1 0 0 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 0 1 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 0 0 0 1
Susceptibility to mononeuropathy of the median nerve, mild 0 0 1 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 0 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 1
Thanatophoric dysplasia type 1 0 1 0 0 0 1
Thrombocytopenia 4 0 1 0 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 1 0 0 0 0 1
Torsion dystonia 6 0 1 0 0 0 1
Townes-Brocks syndrome 2 0 0 1 0 0 1
Tremor, hereditary essential, 4 0 0 1 0 0 1
Tumor predisposition syndrome 3 0 0 1 0 0 1
Ulnar-mammary syndrome 0 1 0 0 0 1
Usher syndrome type 1D 0 1 0 0 0 1
Usher syndrome type 1F 0 1 0 0 0 1
Velocardiofacial syndrome 0 0 1 0 0 1
Ventricular septal defect 3 0 0 1 0 0 1
Ververi-Brady syndrome 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Visceral myopathy 2 0 1 0 0 0 1
Vissers-Bodmer syndrome 0 1 0 0 0 1
Vitelliform macular dystrophy 3 0 1 0 0 0 1
Vitelliform macular dystrophy 5 0 1 0 0 0 1
Waardenburg syndrome type 2E 0 0 1 0 0 1
Warburg micro syndrome 1 0 1 0 0 0 1
Weaver syndrome 1 0 0 0 0 1
Werdnig-Hoffmann disease 1 0 0 0 0 1
Wieacker-Wolff syndrome 0 1 0 0 0 1
Wiskott-Aldrich syndrome 0 1 0 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 0 1 0 0 0 1
X-linked agammaglobulinemia 0 1 0 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 0 0 1
X-linked complicated corpus callosum dysgenesis 0 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 0 1 0 0 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 1 0 0 0 0 1
X-linked myopathy with excessive autophagy 0 0 1 0 0 1
X-linked myopathy with postural muscle atrophy 0 0 1 0 0 1
Xeroderma pigmentosum group A 1 0 0 0 0 1
Xeroderma pigmentosum, group D 1 0 0 0 0 1
ZTTK syndrome 1 0 0 0 0 1

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