ClinVar Miner

Variants from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Location: United States  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
563 384 24 0 0 970

Gene and significance breakdown #

Total genes and gene combinations: 550
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
CHD7 11 2 0 13
KCNQ2 8 5 0 13
PTPN11 11 0 0 11
RYR1 8 3 0 11
BRCA2 10 0 0 10
LZTR1 3 6 0 9
SCN5A 5 4 0 9
KMT2D 7 1 0 8
LDLR 5 3 0 8
ABCC8 5 1 1 7
IGHMBP2 3 4 0 7
KCNQ1 4 3 0 7
MTM1 7 0 0 7
MYH7 3 4 0 7
OTC 4 2 1 7
FOXF1 4 2 0 6
GLDC 3 3 0 6
MECP2 6 0 0 6
MYBPC3 4 2 0 6
NPC1 4 2 0 6
TTN 1 5 0 6
ACTA1 1 4 0 5
ATP1A3 5 0 0 5
BRIP1 4 1 0 5
HEXA 4 1 0 5
KAT6B 4 1 0 5
MMUT 3 2 0 5
NEB 3 2 0 5
SCN2A 1 4 0 5
SDHA 3 2 0 5
BRAT1 3 1 0 4
BRCA1 4 0 0 4
CFTR 3 1 0 4
CHD2 2 2 0 4
COL2A1 2 2 0 4
COL7A1 3 1 0 4
COMP 0 4 0 4
FLNA 0 3 1 4
GBA1, LOC106627981 3 1 0 4
HBB, LOC106099062, LOC107133510 4 0 0 4
LOC102724058, SCN1A 2 0 2 4
NODAL 1 3 0 4
RET 3 1 0 4
RIT1 4 0 0 4
TMEM67 3 1 0 4
ALPL 2 1 0 3
AMT 0 3 0 3
ANKRD11 2 1 0 3
APOB 2 1 0 3
ATM 1 2 0 3
CCDST, FLG 3 0 0 3
CHEK2 3 0 0 3
COL4A1 0 3 0 3
CREBBP 2 1 0 3
DSP 3 0 0 3
DUOX2 1 2 0 3
ENPP1 3 0 0 3
EPHB4 1 2 0 3
FOXP3 3 0 0 3
G6PD 3 0 0 3
GBE1 3 0 0 3
GH-LCR, SCN4A 2 1 0 3
GJB2 3 0 0 3
HSD17B4 0 3 0 3
IL2RG 2 0 1 3
KDM6A 3 0 0 3
MYRF 1 2 0 3
NDUFV1 0 3 0 3
NEB, RIF1 2 1 0 3
NIPBL 3 0 0 3
NPHP3, NPHP3-ACAD11 0 3 0 3
PDHA1 3 0 0 3
PEX12 3 0 0 3
PLPBP 2 1 0 3
PPA2 1 2 0 3
PRF1 3 0 0 3
RAPSN 0 3 0 3
SGSH 3 0 0 3
SI 0 3 0 3
TBCD 1 2 0 3
TET3 0 0 3 3
VWF 1 2 0 3
WFS1 1 2 0 3
ABCA3 0 2 0 2
ABCC9 2 0 0 2
ACE 2 0 0 2
ACTG2 1 1 0 2
AHCY 0 2 0 2
AIRE 1 1 0 2
ALDH7A1 2 0 0 2
ALDOB 2 0 0 2
ALMS1 0 2 0 2
ANTXR2 2 0 0 2
ARID1A 2 0 0 2
ARID1B 1 1 0 2
ARSA 1 1 0 2
ASCC1 2 0 0 2
ASS1 2 0 0 2
ATM, C11orf65 2 0 0 2
ATRX 1 1 0 2
BBS10 2 0 0 2
BBS2 1 1 0 2
BCKDHB 1 1 0 2
BRWD3 1 1 0 2
BTD 2 0 0 2
CACNA1A 1 1 0 2
CACNA1C 1 1 0 2
CARD11 0 2 0 2
CD36 0 2 0 2
CDAN1 0 2 0 2
CEP290 2 0 0 2
CEP41 1 1 0 2
CHD4 0 2 0 2
CHRNG 2 0 0 2
CLASP1, RNU4ATAC 0 2 0 2
CNTNAP1 2 0 0 2
COL4A4 0 2 0 2
CPLANE1 1 1 0 2
CSNK2B 1 1 0 2
CTCF 2 0 0 2
CTNNB1 1 0 1 2
CUL7 1 1 0 2
CWF19L1 0 1 1 2
DDX3X 1 1 0 2
DNM1L 0 2 0 2
EFTUD2 2 0 0 2
EIF2B2 1 1 0 2
EPG5 2 0 0 2
FBXW7 1 1 0 2
FGFR3 2 0 0 2
FH 2 0 0 2
FLNC 1 1 0 2
FOXC2 1 1 0 2
G6PC3, LOC130060959 2 0 0 2
GALE 0 1 1 2
HLCS 2 0 0 2
IL7R 2 0 0 2
INVS 1 1 0 2
IRF2BPL 0 2 0 2
JAG1 2 0 0 2
KCNB1 1 1 0 2
KCNH2 1 1 0 2
KCNJ11 1 1 0 2
KCNQ3 2 0 0 2
KCNT1 2 0 0 2
KLHL7 0 2 0 2
KMT2A 2 0 0 2
KMT2B 0 2 0 2
KYNU 0 2 0 2
LARS1 0 2 0 2
LMNA 2 0 0 2
LOC108021846, SOX9 1 1 0 2
LOC110011216, PHOX2B 2 0 0 2
LOC126807619, NSD1 1 1 0 2
LOC126861898, MYH7 1 1 0 2
LRP1 0 0 2 2
MIPEP 0 2 0 2
MOCS1 0 2 0 2
MPV17 1 1 0 2
MSH2 0 2 0 2
MSH6 2 0 0 2
MYH2, MYHAS 1 1 0 2
MYO5B 0 2 0 2
NALCN 1 1 0 2
NPRL2 0 2 0 2
NSD2 2 0 0 2
PEPD 1 1 0 2
PEX6 0 2 0 2
PKHD1 2 0 0 2
PKLR 2 0 0 2
PKP2 2 0 0 2
PLA2G6 2 0 0 2
PMM2 1 1 0 2
PMS2 1 1 0 2
POLG, POLGARF 2 0 0 2
PTCH1 1 1 0 2
PYGM 2 0 0 2
RAF1 1 1 0 2
RALGAPA1 0 2 0 2
SCN1A 0 1 1 2
SCN8A 2 0 0 2
SERAC1 1 1 0 2
SETBP1 2 0 0 2
SLC12A3 2 0 0 2
SLC27A4 1 1 0 2
SLC35A2 2 0 0 2
SMARCB1 1 1 0 2
SPTA1 1 1 0 2
STAT3 0 2 0 2
STRA6 2 0 0 2
TH 1 1 0 2
TMEM237 2 0 0 2
TUBA1A 1 1 0 2
TUBB3 2 0 0 2
UBE3B 0 2 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 2 0 0 2
USP9X 0 2 0 2
VWA1 1 1 0 2
WDR62 1 1 0 2
ZEB2 2 0 0 2
AARS1 0 1 0 1
ABCB4 0 1 0 1
ABCC2 1 0 0 1
ABCC2, LOC126861013 1 0 0 1
ABCD1 0 1 0 1
ABCG8 1 0 0 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, BIVM, BIVM-ERCC5, CARS2, CCDC168, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DAOA, DCUN1D2, EFNB2, ERCC5, F10, F7, FGF14, GAS6, GRTP1, ING1, IRS2, ITGBL1, LAMP1, LIG4, LINC00567, MCF2L, METTL21C, MYO16, NALF1, NAXD, PCID2, POGLUT2, PROZ, RAB20, RASA3, SLC10A2, SOX1, SPACA7, SWINGN, TEX29, TEX30, TFDP1, TMCO3, TMEM255B, TNFSF13B, TPP2, TUBGCP3, UPF3A 1 0 0 1
ABHD4, DAD1, OR10G2, OR10G3, OR4E2, OXA1L, TRA 0 0 1 1
ACADM 1 0 0 1
ACADVL 1 0 0 1
ACOX1 1 0 0 1
ACTA2 1 0 0 1
ACTB 0 1 0 1
ACTC1, GJD2-DT 0 1 0 1
ACTN2 1 0 0 1
ACVRL1 1 0 0 1
ADAMTSL2 0 1 0 1
ADIRF, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, LDB3, LINC01520, LOC101929662, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NUTM2A, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TSPAN14, WAPL 1 0 0 1
ADK 0 1 0 1
ADK, LOC102723439 0 1 0 1
ADNP 1 0 0 1
ADPRS 0 1 0 1
AGRN 0 1 0 1
AK7, ASB2, ATG2B, ATXN3, BDKRB1, BDKRB2, BTBD7, C14orf132, CALM1, CATSPERB, CCDC88C, CHGA, CLMN, COX8C, CPSF2, DDX24, DGLUCY, DICER1, EFCAB11, EML5, FAM181A, FBLN5, FLRT2, FOXN3, GALC, GLRX5, GOLGA5, GON7, GPR65, GPR68, GSC, GSKIP, IFI27, IFI27L1, IFI27L2, ITPK1, KCNK10, KCNK13, LGMN, LYSET, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R3A, PPP4R4, PRIMA1, PSMC1, PTPN21, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SLC24A4, SNHG10, SPATA7, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TRIP11, TTC7B, TTC8, UBR7, UNC79, ZC3H14 1 0 0 1
ALDH18A1 0 1 0 1
ALG1 1 0 0 1
ALG12 1 0 0 1
ALPK3 1 0 0 1
AMT, NICN1 0 1 0 1
AP1S1, LOC126860125 0 1 0 1
APC 1 0 0 1
ARFGEF1 0 0 1 1
ARHGEF6 0 0 1 1
ARID2 1 0 0 1
ASH1L 0 0 1 1
ASL 0 1 0 1
ASNS, CZ1P-ASNS 0 1 0 1
ASPA, SPATA22 1 0 0 1
ASPM 1 0 0 1
ASXL1 1 0 0 1
ASXL3 1 0 0 1
ATAD3A 1 0 0 1
ATN1 1 0 0 1
ATP1A2 1 0 0 1
ATP2B2 0 1 0 1
ATP7A 0 1 0 1
ATP7B 1 0 0 1
ATP8B1 0 1 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 1
AXIN2 0 1 0 1
B9D1 0 1 0 1
BBS1, ZDHHC24 1 0 0 1
BCHE 1 0 0 1
BCKDHA 1 0 0 1
BCOR 0 1 0 1
BMPR2 0 1 0 1
BPTF 1 0 0 1
BRD4 0 0 1 1
BTK 1 0 0 1
C17orf107, CHRNE 1 0 0 1
C1GALT1C1 1 0 0 1
CACNA1S 1 0 0 1
CASD1, SGCE 1 0 0 1
CASR 1 0 0 1
CC2D2A 0 1 0 1
CD46 0 1 0 1
CDC42 0 1 0 1
CEP55 1 0 0 1
CERS1, GDF1, UPF1 0 1 0 1
CFB 1 0 0 1
CFI 0 1 0 1
CFTR, LOC111674475 1 0 0 1
CFTR, LOC111674477 0 1 0 1
CHD3 0 1 0 1
CHD8 0 1 0 1
CIC 0 1 0 1
CLCN1 1 0 0 1
CLPB 0 1 0 1
CLPP 0 1 0 1
COL11A1 1 0 0 1
COL12A1 1 0 0 1
COL18A1 1 0 0 1
COL5A2 1 0 0 1
COLQ 1 0 0 1
COQ7, COQ7-DT, LOC130058587 0 1 0 1
CPOX 0 1 0 1
CRB2 0 1 0 1
CUL4B 0 1 0 1
CYP11A1 0 1 0 1
DCLRE1C 0 1 0 1
DEPDC5 1 0 0 1
DIAPH2, FAM133A, NAP1L3, PABPC5, PCDH11X, PCDH19, RPA4, TGIF2LX 1 0 0 1
DICER1 0 0 1 1
DIPK1A, RPL5 1 0 0 1
DNASE1L3 1 0 0 1
DNMT3A 0 1 0 1
DOCK8 1 0 0 1
DYRK1A 1 0 0 1
EARS2 0 1 0 1
EBF3 1 0 0 1
ECHS1 0 1 0 1
ECHS1, LOC130005023 0 1 0 1
EDA 0 1 0 1
EEF1A2 0 1 0 1
EFEMP1 1 0 0 1
ELP4, PAX6 1 0 0 1
EMC10 1 0 0 1
EP300 1 0 0 1
EPHB4, LOC126860124 1 0 0 1
ERCC2 1 0 0 1
ERCC6 0 1 0 1
ERCC6, LOC130003806 0 1 0 1
EVC2 1 0 0 1
F13A1 0 1 0 1
F2 1 0 0 1
FANCA 1 0 0 1
FANCA, ZNF276 1 0 0 1
FAS 1 0 0 1
FBN1 1 0 0 1
FDXR 1 0 0 1
FERMT3 1 0 0 1
FGFR2 1 0 0 1
FLCN 1 0 0 1
FLG 0 1 0 1
FLI1 0 1 0 1
FLT4 0 1 0 1
FOXC1 1 0 0 1
GAA 1 0 0 1
GABBR2 1 0 0 1
GABRA1 0 1 0 1
GALC, LOC130056217 1 0 0 1
GALNS 0 1 0 1
GATAD1, PEX1 1 0 0 1
GFAP 1 0 0 1
GJB1 0 1 0 1
GJB6 1 0 0 1
GK 0 1 0 1
GLA, RPL36A-HNRNPH2 0 1 0 1
GLI3 1 0 0 1
GMPPB 1 0 0 1
GNAO1 0 1 0 1
GNAS 1 0 0 1
GNPTAB 0 1 0 1
GREB1L 0 1 0 1
GRHL2 0 1 0 1
GRIA2 0 1 0 1
H3-3A 1 0 0 1
HCN1 0 1 0 1
HDAC6 0 1 0 1
HDAC8 1 0 0 1
HIVEP2 0 1 0 1
HOXB13 1 0 0 1
HPDL 0 1 0 1
HRAS, LRRC56 1 0 0 1
HUWE1 0 1 0 1
HYLS1, PUS3 0 1 0 1
IDH1 1 0 0 1
IDUA 1 0 0 1
IGSF1 1 0 0 1
IKZF1 1 0 0 1
INS, INS-IGF2 0 1 0 1
IRAK1 0 0 1 1
ITPR1 1 0 0 1
KARS1 1 0 0 1
KAT6A 1 0 0 1
KCNA1 1 0 0 1
KCNC1 0 1 0 1
KCNH1 0 1 0 1
KCTD1 0 1 0 1
KIF5A 0 1 0 1
KIFBP 1 0 0 1
KMT2D, LOC126861520 1 0 0 1
KMT2E 1 0 0 1
KMT5B 0 1 0 1
KRAS 1 0 0 1
LCT 0 1 0 1
LOC107982234, WT1 0 1 0 1
LOC126806373, NEB 0 1 0 1
LOC126806421, TTN 0 1 0 1
LOC126806423, TTN 0 1 0 1
LOC126806425, TTN 1 0 0 1
LOC126859827, TAB2 0 1 0 1
LOC126861831, NALCN 1 0 0 1
LOC126862264, MEFV 1 0 0 1
LOC126862902, RYR1 1 0 0 1
LOC129935182, TTN 0 1 0 1
LOC129994826, PURA 1 0 0 1
LOC130005368, RRAS2 1 0 0 1
LOC130009585, UFM1 0 1 0 1
LOC130059554, MLYCD 0 1 0 1
LRBA 1 0 0 1
MAGEL2 1 0 0 1
MAP1B 0 1 0 1
MC2R 1 0 0 1
MC4R 0 1 0 1
MDFIC 1 0 0 1
MEA1, PPP2R5D 1 0 0 1
MED12L 0 1 0 1
MEF2C 1 0 0 1
MIF4GD-DT, SLC25A19 1 0 0 1
MITF 1 0 0 1
MOCS2 0 1 0 1
MTO1 0 1 0 1
MTR 1 0 0 1
MUTYH 1 0 0 1
MVP-DT, PRRT2 1 0 0 1
MYLK 0 1 0 1
MYO6 0 1 0 1
NAA10 1 0 0 1
NAA15 1 0 0 1
NAXD 0 1 0 1
NAXE 1 0 0 1
NDUFA1 0 0 1 1
NDUFB11 0 1 0 1
NDUFS3 0 1 0 1
NDUFS4 1 0 0 1
NEXMIF 0 1 0 1
NF1 0 1 0 1
NFIA 0 1 0 1
NFIX 1 0 0 1
NFU1 1 0 0 1
NKX2-1, SFTA3 1 0 0 1
NLRP3 0 1 0 1
NONO 1 0 0 1
NOTCH1 0 1 0 1
NPHS1 1 0 0 1
NR0B1 1 0 0 1
NSD1 1 0 0 1
OPA1 1 0 0 1
OTX2 0 1 0 1
PACS1 1 0 0 1
PAFAH1B1 1 0 0 1
PALB2 1 0 0 1
PAX2 1 0 0 1
PCCA 0 1 0 1
PCCB 1 0 0 1
PCDH19 1 0 0 1
PEX1 1 0 0 1
PEX13 1 0 0 1
PGM1 1 0 0 1
PHGDH 1 0 0 1
PHOX2B 0 1 0 1
PIEZO1 1 0 0 1
PIGV 0 1 0 1
PIK3CA 0 1 0 1
PKD1 1 0 0 1
PLCB4 0 1 0 1
PNKP 1 0 0 1
PNPLA8 0 1 0 1
PNPT1 0 1 0 1
POGZ 1 0 0 1
POLR1C 0 1 0 1
PORCN 0 1 0 1
PPP1CB 1 0 0 1
PPP1R12A 0 1 0 1
PPP2R1A 1 0 0 1
PPP2R5D 1 0 0 1
PPP3CA 0 1 0 1
PRDM16 1 0 0 1
PROKR2 0 1 0 1
PTEN 1 0 0 1
PUF60 0 1 0 1
PUM1 0 1 0 1
PURA 1 0 0 1
QARS1 0 1 0 1
RAC3 0 1 0 1
RAD21 0 1 0 1
RAD51 1 0 0 1
RBM10 0 1 0 1
RELA 0 1 0 1
RHOBTB2 0 1 0 1
RORB 0 0 1 1
RYR2 0 1 0 1
SAMHD1 0 1 0 1
SBDS 1 0 0 1
SCARB1 1 0 0 1
SCYL1 1 0 0 1
SERPINA1 1 0 0 1
SETD1B 0 1 0 1
SETD2 0 1 0 1
SETD5 1 0 0 1
SHANK3 1 0 0 1
SHOC2 1 0 0 1
SKI 1 0 0 1
SLC19A3 1 0 0 1
SLC25A15 1 0 0 1
SLC25A19 0 1 0 1
SLC25A3 1 0 0 1
SLC26A2 1 0 0 1
SLC2A1 0 1 0 1
SLC4A1 0 1 0 1
SMAD2 1 0 0 1
SMARCA2 1 0 0 1
SMC3 0 1 0 1
SNAP25 0 1 0 1
SNHG14, UBE3A 1 0 0 1
SORD 1 0 0 1
SOX17 0 1 0 1
SOX9 1 0 0 1
SPOP 0 1 0 1
SPTB 1 0 0 1
STAC3 1 0 0 1
STAT1 0 1 0 1
STING1 0 1 0 1
STXBP1 1 0 0 1
STXBP2 0 1 0 1
SUOX 1 0 0 1
SYNGAP1 1 0 0 1
SZT2 0 1 0 1
TAB2 0 1 0 1
TAFAZZIN 1 0 0 1
TANGO2 1 0 0 1
TAOK1 1 0 0 1
TBCK 1 0 0 1
TBL1XR1 0 1 0 1
TBX4 0 1 0 1
TCF12 1 0 0 1
TECRL 0 1 0 1
TGFBR1 0 1 0 1
THAP1 0 1 0 1
TLK2 0 1 0 1
TNFAIP3 0 1 0 1
TNFRSF13B 0 1 0 1
TNNI3 0 1 0 1
TOR1A 1 0 0 1
TP53 1 0 0 1
TPM2 0 1 0 1
TRAF7 1 0 0 1
TRAPPC12 0 1 0 1
TREX1 0 1 0 1
TRIP12 1 0 0 1
TRNT1 1 0 0 1
TRPS1 1 0 0 1
TRPV4 1 0 0 1
TSC2 1 0 0 1
TSEN54 1 0 0 1
TSHR 0 1 0 1
TTR 1 0 0 1
TUBB2A 0 1 0 1
TUBB2B 0 1 0 1
UBA1 1 0 0 1
UBA2 0 1 0 1
UMOD 0 1 0 1
VARS1, VARS2 0 1 0 1
VARS2 0 1 0 1
VCP 0 1 0 1
VKORC1 1 0 0 1
VPS13D 0 1 0 1
WARS2 0 1 0 1
WT1 1 0 0 1

Condition and significance breakdown #

Total conditions: 620
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
CHARGE association 11 2 0 13
Non-ketotic hyperglycinemia 3 7 0 10
PTPN11 Related Disorders 10 0 0 10
KCNQ2-Related Disorders 7 2 0 9
Nemaline myopathy 2 5 4 0 9
Familial hypercholesterolemia 5 2 0 7
KCNQ1-Related Disorders 4 3 0 7
Kabuki syndrome 1 6 1 0 7
Ornithine carbamoyltransferase deficiency 4 2 1 7
TTN-Related Disorders 1 6 0 7
Alveolar capillary dysplasia with pulmonary venous misalignment 4 2 0 6
Cardiomyopathy 4 2 0 6
SCN5A-Related Disorders 3 3 0 6
Severe X-linked myotubular myopathy 6 0 0 6
FLG-related disorders 4 1 0 5
Hereditary breast ovarian cancer syndrome 5 0 0 5
LZTR1-related disorders 0 5 0 5
MYH7-Related Disorders 2 3 0 5
RYR1-Related Disorders 5 0 0 5
Tay-Sachs disease 4 1 0 5
BRCA2-Related Disorders 4 0 0 4
BRIP1-associated familial cancer predisposition 3 1 0 4
Cystic fibrosis 3 1 0 4
Developmental and epileptic encephalopathy 94 2 2 0 4
Hypertrophic cardiomyopathy 4 3 1 0 4
MECP2-Related Disorders 4 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 2 0 4
Mitochondrial complex I deficiency 0 4 0 4
Multiple epiphyseal dysplasia type 1 0 4 0 4
Noonan syndrome 8 4 0 0 4
SCN2A-related disorder 1 3 0 4
TMEM67-Related Disorders 3 1 0 4
not provided 1 0 4 4
ABCC8-related disorders 3 0 0 3
ACTA1-related myopathies 0 3 0 3
Alternating hemiplegia of childhood 2 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 6 1 2 0 3
Autosomal recessive distal spinal muscular atrophy 1 0 3 0 3
Bifunctional peroxisomal enzyme deficiency 0 3 0 3
Brugada syndrome 1 2 1 0 3
CFTR-related disorders 2 1 0 3
Combined immunodeficiency, X-linked 2 0 1 3
Cornelia de Lange syndrome 1 3 0 0 3
Developmental and epileptic encephalopathy, 7 1 2 0 3
EPHB4-related disorders 2 1 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 2 0 3
Epilepsy, early-onset, vitamin B6-dependent 2 1 0 3
FLNA related disorders 0 2 1 3
Familial hemophagocytic lymphohistiocytosis 2 3 0 0 3
Glycogen storage disease, type IV 3 0 0 3
Hereditary cancer-predisposing syndrome 3 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 3
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 3 0 0 3
KBG syndrome 2 1 0 3
Kabuki syndrome 2 3 0 0 3
Mucopolysaccharidosis, MPS-III-A 3 0 0 3
NPHP3-related disorders 0 3 0 3
Neurodevelopmental disorder 1 2 0 3
Pyruvate dehydrogenase E1-alpha deficiency 3 0 0 3
RAPSN-Related Disorders 0 3 0 3
SCN1A-related conditions 0 1 2 3
SCN4A-Related Disorders 2 1 0 3
Sotos syndrome 2 1 0 3
Sphingomyelin/cholesterol lipidosis 2 1 0 3
Sucrase-isomaltase deficiency 0 3 0 3
TET3-Related Disease 0 0 3 3
Thyroid dyshormonogenesis 6 1 2 0 3
3M syndrome 1 1 1 0 2
ATM-related disorders 1 1 0 2
ATP1A3-Related Disorders 2 0 0 2
Actin accumulation myopathy 1 1 0 2
Adenosine kinase deficiency 0 2 0 2
Alpha thalassemia-X-linked intellectual disability syndrome 1 1 0 2
Alstrom syndrome 0 2 0 2
Amish lethal microcephaly 1 1 0 2
Anemia, congenital dyserythropoietic, type 1a 0 2 0 2
Arrhythmogenic right ventricular dysplasia 8 2 0 0 2
Autosomal dominant KAT6B-related disorders 1 1 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 1 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 5 2 0 0 2
Autosomal recessive multiple pterygium syndrome 2 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 2
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2 0 0 2
Autosomal recessive spinocerebellar ataxia 17 0 1 1 2
BRAT1-Related Disorders 1 1 0 2
Bardet-Biedl syndrome 10 2 0 0 2
Bardet-Biedl syndrome 2 1 1 0 2
Biotinidase deficiency 2 0 0 2
Breast and colorectal cancer, susceptibility to 2 0 0 2
Breast cancer, susceptibility to 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 2
CACNA1C-related disorder 1 1 0 2
CEP290-Related Disorders 2 0 0 2
COL2A1-related skeletal dysplasia 1 1 0 2
COL4A1-related disorder 0 2 0 2
COL7A1-related disorders 1 1 0 2
CREBBP-Related Disorders 2 0 0 2
Campomelic dysplasia with autosomal sex reversal 2 0 0 2
Central core disease, autosomal recessive 2 0 0 2
Citrullinemia 2 0 0 2
Cockayne syndrome type 2 0 2 0 2
Congenital central hypoventilation 2 0 0 2
Congenital heart defects, multiple types, 2 0 2 0 2
Congenital microvillous atrophy 0 2 0 2
Coronary sclerosis, medial, of infancy 2 0 0 2
DNM1L-related disorders 0 2 0 2
Developmental and epileptic encephalopathy, 26 1 1 0 2
Developmental and epileptic encephalopathy, 9 2 0 0 2
Distichiasis-lymphedema syndrome 1 1 0 2
Dubin-Johnson syndrome 2 0 0 2
Dystonia 28, childhood-onset 0 2 0 2
Dystonic disorder 1 1 0 2
Early-onset myopathy with fatal cardiomyopathy 0 2 0 2
Epilepsy, familial focal, with variable foci 2 0 2 0 2
FH-Related Disorders 2 0 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 2
Fanconi anemia 2 0 0 2
GJB2-Related Disorders 2 0 0 2
Gaucher disease 2 0 0 2
Glycogen storage disease, type V 2 0 0 2
HBB-Related Disorders 2 0 0 2
Hb SS disease 2 0 0 2
Hereditary fructosuria 2 0 0 2
Holocarboxylase synthetase deficiency 2 0 0 2
Hyaline fibromatosis syndrome 2 0 0 2
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 2 0 2
Hypobetalipoproteinemia 1 1 0 2
Hypophosphatasia 1 1 0 2
IGHMBP2-related disorders 2 0 0 2
Ichthyosis prematurity syndrome 1 1 0 2
Immunodeficiency 104 2 0 0 2
Infantile nephronophthisis 1 1 0 2
Infantile neuroaxonal dystrophy 2 0 0 2
Intellectual disability, X-linked 93 1 1 0 2
Intellectual disability, autosomal dominant 14 2 0 0 2
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 2 0 0 2
Interstitial lung disease due to ABCA3 deficiency 0 2 0 2
JAG1-related disorders 2 0 0 2
Joubert syndrome 14 2 0 0 2
Joubert syndrome 15 1 1 0 2
Joubert syndrome 17 1 1 0 2
KAT6B-related disorders 2 0 0 2
KCNH2-related disorders 1 1 0 2
KCNJ11-Related Disorders 1 1 0 2
KLHL7-related disorders 0 2 0 2
KMT2D-related disorders 2 0 0 2
KYNU-related disorders 0 2 0 2
LMNA-Related Disorders 2 0 0 2
Lethal congenital contracture syndrome 7 2 0 0 2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 2 0 2
Lowry-Wood syndrome 0 2 0 2
MSH2-Related disorders 0 2 0 2
MYRF-Related Disorders 1 1 0 2
Malignant hyperthermia, susceptibility to, 1 0 2 0 2
Mandibulofacial dysostosis-microcephaly syndrome 2 0 0 2
Maple syrup urine disease 1 1 0 2
Matthew-Wood syndrome 2 0 0 2
Metachromatic leukodystrophy 1 1 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 1 0 2
Mitochondrial complex II deficiency, nuclear type 1 1 1 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 2 0 2
Mowat-Wilson syndrome 2 0 0 2
NALCN-related disorders 2 0 0 2
Neonatal-onset encephalopathy with rigidity and seizures 2 0 0 2
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 2 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 1 0 2
Niemann-Pick disease, type C1, juvenile form 2 0 0 2
Noonan syndrome 2 0 0 2
Oculocerebrofacial syndrome, Kaufman type 0 2 0 2
PEX1-RELATED DISORDERS 2 0 0 2
PEX12-related disorders 2 0 0 2
PEX6-Related Disorders 0 2 0 2
PMM2-congenital disorder of glycosylation 1 1 0 2
PURA Syndrome 2 0 0 2
Platelet-type bleeding disorder 10 0 2 0 2
Poirier-Bienvenu neurodevelopmental syndrome 1 1 0 2
Polyglandular autoimmune syndrome, type 1 1 1 0 2
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 2 0 0 2
Prolidase deficiency 1 1 0 2
Propionic acidemia 1 1 0 2
Pyridoxine-dependent epilepsy 2 0 0 2
Pyruvate kinase deficiency of red cells 2 0 0 2
RET-related disorders 2 0 0 2
Renal tubular dysgenesis 2 0 0 2
Rett syndrome 2 0 0 2
SCN8A-related disorder 2 0 0 2
SDHA-Related Disorders 1 1 0 2
SLC35A2-congenital disorder of glycosylation 2 0 0 2
SPTA1-related disorders 1 1 0 2
STAT3-Related Conditions 0 2 0 2
Seizures, benign familial neonatal, 2 2 0 0 2
Severe combined immunodeficiency due to CARD11 deficiency 0 2 0 2
Severe myoclonic epilepsy in infancy 1 0 1 2
Sifrim-Hitz-Weiss syndrome 0 2 0 2
Spinal muscular atrophy 1 1 0 2
Spinal muscular atrophy with congenital bone fractures 2 2 0 0 2
Sudden cardiac failure, infantile 1 1 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 2 0 2
TUBA1A-associated tubulinopathy 1 1 0 2
UDPglucose-4-epimerase deficiency 0 1 1 2
UGT1A1-Related Disorders 2 0 0 2
Vanishing white matter disease 1 1 0 2
Vici syndrome 2 0 0 2
Visceral heterotaxy 0 2 0 2
Visceral myopathy 1 1 1 0 2
WDR62 Related Disorder 1 1 0 2
Wiedemann-Steiner syndrome 2 0 0 2
3-Methylglutaconic aciduria type 2 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 1
3-methylglutaconic aciduria, type VIIB 0 1 0 1
8q24.3 microdeletion syndrome 0 1 0 1
AARS-related disorders 0 1 0 1
ABCB4-related disorders 0 1 0 1
ABCC9-Related Disorders 1 0 0 1
ABCC9-related disorder 1 0 0 1
ACOX1-related disorders 1 0 0 1
ACTN2-related disorders 1 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 1
ALDH18A1-related de Barsy syndrome 0 1 0 1
ALG1-congenital disorder of glycosylation 1 0 0 1
ALG12-congenital disorder of glycosylation 1 0 0 1
ALPK3-related disorder 1 0 0 1
ALPL-related disorders 1 0 0 1
APOB-Related Disorders 1 0 0 1
ARFGEF1-RELATED DISORDER 0 0 1 1
ARID1B-related disorder 1 0 0 1
ASXL1-Related Disorders 1 0 0 1
ATN1-related disorders 1 0 0 1
ATP1A2-RELATED DISORDERS 1 0 0 1
ATP2B2-related disorder 0 1 0 1
ATP8B1-Related Disorders 0 1 0 1
ATTRV122I amyloidosis 1 0 0 1
AXIN2-related disorder 0 1 0 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 1 0 0 1
Adrenoleukodystrophy 0 1 0 1
Aganglionic megacolon 0 1 0 1
Aicardi-Goutieres syndrome 1 0 1 0 1
Alexander disease 1 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 1
Alport syndrome 0 1 0 1
Anemia 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 1
Angelman syndrome 1 0 0 1
Aniridia 1 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 1
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 1 0 1
Auriculocondylar syndrome 2 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 1 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 0 1 0 1
Autosomal dominant hypocalcemia 1 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 3A 1 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 1
BCOR-related disorders 0 1 0 1
BMPR2-related disorders 0 1 0 1
BRAT1-associated neurodegenerative disorder 1 0 0 1
Bailey-Bloch congenital myopathy 1 0 0 1
Baraitser-Winter syndrome 1 0 1 0 1
Bardet-Biedl syndrome 1 1 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 1
Bleeding disorder, platelet-type, 21 0 1 0 1
CC2D2A-Related Disorders 0 1 0 1
CDC42-related disorders 0 1 0 1
CFB-related disorders 1 0 0 1
CFI-Related Disorders 0 1 0 1
CHD8-Related Disorders 0 1 0 1
CHEK2-Related Cancer Susceptibility 1 0 0 1
CLCN1-related disorder 1 0 0 1
COL11A1-Related Disorders 1 0 0 1
COL18A1-related disorders 1 0 0 1
COL4A4-related disorders 0 1 0 1
COL7A1- related disorders 1 0 0 1
CPOX-related disorders 0 1 0 1
CRB2-related disorders 0 1 0 1
CTCF-Related Neurodevelopmental Disorder 1 0 0 1
CTNNB1-related disorders 1 0 0 1
Camptomelic dysplasia 0 1 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 0 1
Cardiac-urogenital syndrome 0 1 0 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 3 0 1 0 1
Central core myopathy 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Clark-Baraitser syndrome 1 0 0 1
Coffin-Siris syndrome 1 0 1 0 1
Coffin-Siris syndrome 6 1 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 1 0 0 1
Combined immunodeficiency due to LRBA deficiency 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 1
Congenital Adrenal Insufficiency 0 1 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 1
Congenital central hypoventilation syndrome, with or without Hirschsprung disease 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 1
Congenital lactase deficiency 0 1 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 1 0 1
Congenital myasthenic syndrome 18 0 1 0 1
Congenital myasthenic syndrome 4B 1 0 0 1
Congenital myasthenic syndrome 5 1 0 0 1
Congenital myasthenic syndrome 8 0 1 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 1 0 0 1
Cornelia de Lange syndrome 3 0 1 0 1
Cornelia de Lange syndrome 5 1 0 0 1
Costello syndrome 1 0 0 1
DDX3X-Related Neurodevelopmental Disorder 0 1 0 1
DEPDC5-related related disorder 1 0 0 1
DNMT3A-related disorders 0 1 0 1
DSP-Related Disorders 1 0 0 1
DYRK1A-related disorder 1 0 0 1
De Lange syndrome 0 0 1 1
Deficiency of butyrylcholinesterase 1 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 1 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 1 0 0 1
Deletion syndrome 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 1
Developmental and epileptic encephalopathy, 42 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 1
Diabetes mellitus, transient neonatal, 2 0 1 0 1
Diamond-Blackfan anemia 6 1 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 1 0 1
Dilated cardiomyopathy 1A 1 0 0 1
Distal arthrogryposis type 2B1 0 1 0 1
Doyne honeycomb retinal dystrophy 1 0 0 1
EARS2-Related Disorders 0 1 0 1
EDA-related disorders 0 1 0 1
EEF1A2-related disorders 0 1 0 1
ENPP1-Related Disorders 1 0 0 1
EP300-related disorders 1 0 0 1
ERCC2-related conditions 1 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 0 1
Ehlers-Danlos syndrome, classic type, 2 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 0 0 1
Epilepsy 0 1 0 1
Epilepsy, benign neonatal, 1, and/or myokymia 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 1 1
Episodic ataxia type 2 0 1 0 1
Episodic ataxia/myokymia syndrome 1 0 0 1
FBXW7-Related Disorders 1 0 0 1
FBXW7-related neurodevelopmental disorder 0 1 0 1
FDXR-related disorders 1 0 0 1
FGFR2-related disorders 1 0 0 1
FGFR3-Related Disorders 1 0 0 1
FLNA - related disorder 0 1 0 1
FLNC-Related Disorders 1 0 0 1
Fabry disease 0 1 0 1
Factor XIII, A subunit, deficiency of 0 1 0 1
Familial amyloid neuropathy 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 1 0 1
Familial multiple polyposis syndrome 1 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 1
Focal dermal hypoplasia 0 1 0 1
G6PD TOMAH 1 0 0 1
GABBR2-related disorders 1 0 0 1
GBA-related disorders 1 0 0 1
GDF1-RELATED DISORDERS 0 1 0 1
GJB6-related disorder 1 0 0 1
GLI3-Related Disorders 1 0 0 1
GNAO1-Related Condition 0 1 0 1
GRHL2-related disorders 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 1
Gaucher disease type II 0 1 0 1
Geleophysic dysplasia 1 0 1 0 1
Genitourinary and/or brain malformation syndrome 0 1 0 1
Glucocorticoid deficiency 1 1 0 0 1
Glycogen storage disease, type II 1 0 0 1
Goldberg-Shprintzen syndrome 1 0 0 1
Gorlin syndrome 1 0 0 1
H3F3A-related disorders 1 0 0 1
HCN1-Related disorders 0 1 0 1
HOXB13-Related Cancer Predisposition 1 0 0 1
HOXB13-related disorders 1 0 0 1
Harel-Yoon syndrome 1 0 0 1
Heart, malformation of 0 1 0 1
Hemolytic anemia, G6PD deficient (favism) 1 0 0 1
Hereditary lymphedema type I 0 1 0 1
Hereditary spherocytosis type 2 1 0 0 1
Hereditary von Willebrand disease 0 1 0 1
Heterotaxy, visceral, 5, autosomal 1 0 0 1
High density lipoprotein cholesterol level quantitative trait locus 6 1 0 0 1
Hirschsprung disease, susceptibility to, 1 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 0 0 1
Hypertrophic cardiomyopathy 11 0 1 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 1
Hypokalemic periodic paralysis, type 1 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 1
Immunodeficiency, common variable, 2 0 1 0 1
Inborn glycerol kinase deficiency 0 1 0 1
Infantile liver failure syndrome 1 0 1 0 1
Infantile-onset X-linked spinal muscular atrophy 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, X-linked 99 0 1 0 1
Intellectual disability, autosomal dominant 43 0 1 0 1
Intellectual disability, autosomal dominant 45 0 1 0 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Intellectual disability, autosomal dominant 52 0 0 1 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 1
Joubert syndrome 27 0 1 0 1
KARS-related disorders 1 0 0 1
KCNH1-related disorders 0 1 0 1
KIF5A-Related Disorders 0 1 0 1
KRAS-related disorders 1 0 0 1
LARS1-Related Disorder 0 1 0 1
Left ventricular noncompaction 8 1 0 0 1
Leukocyte adhesion deficiency 3 1 0 0 1
Leukodystrophy, hypomyelinating, 14 0 1 0 1
Li-Fraumeni syndrome 1 0 0 1
Linear skin defects with multiple congenital anomalies 3 0 1 0 1
Lissencephaly due to LIS1 mutation 1 0 0 1
Loeys-Dietz syndrome 1 0 1 0 1
Long QT syndrome 1 1 0 0 1
Luscan-Lumish syndrome 0 1 0 1
Lymphatic malformation 12 1 0 0 1
Lymphatic malformation 7 0 1 0 1
Lynch syndrome 4 0 1 0 1
Lynch syndrome 5 1 0 0 1
MEDNIK syndrome 0 1 0 1
MEF2C Haploinsufficiency Syndrome 1 0 0 1
MEFV-related disorders 1 0 0 1
MSH6-related disorders 1 0 0 1
MTM1-related disorder 1 0 0 1
MUTYH-Related disorders 1 0 0 1
MYBPC3-Related Disorders 1 0 0 1
MYBPC3-related cardiomyopathies 0 1 0 1
MYH2 related disorder 1 0 0 1
Maple syrup urine disease type 1A 1 0 0 1
Marfan syndrome 1 0 0 1
Marshall-Smith syndrome 1 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 1
Medulloblastoma 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 8 1 0 0 1
Menkes kinky-hair syndrome 0 1 0 1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 1 0 0 1
Methylcobalamin deficiency type cblG 1 0 0 1
Methylmalonic acidemia 1 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 1
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 12 0 0 1 1
Mitochondrial complex I deficiency, nuclear type 1 1 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 0 1
Mucocutaneous ulceration 0 1 0 1
Mucopolysaccharidosis type 1 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 1
Muenke syndrome 1 0 0 1
Multiminicore myopathy 0 1 0 1
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 1 1 0 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 1
Muscular dystrophy-dystroglycanopathy 1 0 0 1
Myoclonic dystonia 11 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 1
NAA10-Related disorders 1 0 0 1
NAD(P)HX dehydratase deficiency 0 1 0 1
NFIA-related disorder 0 1 0 1
NKX2-1 related disorders 1 0 0 1
NLRP3-related disorder 0 1 0 1
NODAL-Related Disorders 0 1 0 1
NSD2 related disorders 1 0 0 1
Nabais Sa-de Vries syndrome 0 1 0 1
Nephrotic syndrome, type 4 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 1
Neurofibromatosis, type 1 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 1
Niemann-Pick disease, type C1 0 1 0 1
Nizon-Isidor syndrome 0 1 0 1
Noonan syndrome 1 1 0 0 1
Noonan syndrome 10 1 0 0 1
Noonan syndrome 12 1 0 0 1
Noonan syndrome 2 0 1 0 1
Noonan syndrome 5 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 1
OTX2-related disorders 0 1 0 1
Obesity 0 1 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 1 0 0 1
Ovarian Cancers 1 0 0 1
PAX2-related disorder 1 0 0 1
PEX13-related disorders 1 0 0 1
PGM1-congenital disorder of glycosylation 1 0 0 1
PHGDH deficiency 1 0 0 1
PIGV-related disorders 0 1 0 1
PIK3CA related overgrowth syndrome 0 1 0 1
PMS2-related cancer disorders 1 0 0 1
PNKP-related disorders 1 0 0 1
PNPT1-Related Disorders 0 1 0 1
PPA2-Related Disorders 0 1 0 1
PPP3CA-related disorders 0 1 0 1
PRRT2-Related Disorders 1 0 0 1
PTCH1-Related Disorder 0 1 0 1
PTEN hamartoma tumor syndrome 1 0 0 1
Pancytopenia due to IKZF1 mutations 1 0 0 1
Paragangliomas 5 1 0 0 1
Periventricular nodular heterotopia 9 0 1 0 1
Permanent neonatal diabetes mellitus 0 1 0 1
Peroxisome biogenesis disorder 1B 1 0 0 1
Peroxisome biogenesis disorder 3A (Zellweger) 1 0 0 1
Perrault syndrome 3 0 1 0 1
Phelan-McDermid syndrome 1 0 0 1
Polyagglutinable erythrocyte syndrome 1 0 0 1
Polycystic kidney disease, adult type 1 0 0 1
Primary coenzyme Q10 deficiency 8 0 1 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 1
Progressive myoclonic epilepsy type 7 0 1 0 1
Pseudo-Hurler polydystrophy 0 1 0 1
Pseudopseudohypoparathyroidism 1 0 0 1
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 1 0 0 1
RAC3-related disorder 0 1 0 1
RAD21- Related disorders 0 1 0 1
RAD51-related disorders 1 0 0 1
RAF1-related disorders 1 0 0 1
RYR1-Related Disorder 1 0 0 1
Rauch-Steindl syndrome 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 0 1
Renal hypodysplasia/aplasia 3 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1
SAMHD1-Related disorder 0 1 0 1
SCN1A Seizure Disorders 1 0 0 1
SCN5A-related disorder 0 1 0 1
SERAC1-Related Disorders 0 1 0 1
SETBP1-related disorders 1 0 0 1
SETD2-related disorder 0 1 0 1
SETD5-related disorders 1 0 0 1
SLC2A1-Related Disorders 0 1 0 1
SLC4A1-related disorders 0 1 0 1
SMAD2-related cardiac disorders 1 0 0 1
SMARCB1-Related Disorders 0 1 0 1
STAT1-Related Immunodeficiency 0 1 0 1
STING-associated vasculopathy with onset in infancy 0 1 0 1
STXBP1-related disorders 1 0 0 1
Scalp-ear-nipple syndrome 0 1 0 1
Schaaf-Yang syndrome 1 0 0 1
Schinzel-Giedion syndrome 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 1
Severe combined immunodeficiency disease 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 1 1
Severe neonatal-onset encephalopathy with microcephaly 1 0 0 1
Shprintzen-Goldberg syndrome 1 0 0 1
Shwachman syndrome 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 1
Sitosterolemia 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Sox17- related disorders 0 1 0 1
Spinocerebellar ataxia 47 0 1 0 1
Spinocerebellar ataxia type 15/16 1 0 0 1
Spinocerebellar atrophy 0 1 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 1
Spongy degeneration of central nervous system 1 0 0 1
Stickler syndrome type 1 1 0 0 1
Sulfite oxidase deficiency 1 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 0 1
Syndromic X-linked intellectual disability 34 1 0 0 1
TAOK1-Related Disorder 1 0 0 1
TARP syndrome 0 1 0 1
TBCK-related disorders 1 0 0 1
TBL1XR1-related disorders 0 1 0 1
TBX4-Related Disorders 0 1 0 1
TCF12-related craniosynostosis 1 0 0 1
TNNI3-Related Disorders 0 1 0 1
TOR1A-related disorders 1 0 0 1
TREX1-Related Disorders 1 0 0 1
TRPV4-Associated Disorders 1 0 0 1
TSEN54 Pontocerebellar Hypoplasia 1 0 0 1
TSHR-Related Disorders 0 1 0 1
TTR-related disorders 1 0 0 1
TUBB3-Releated Disorders 1 0 0 1
TUBB3-related disorders 1 0 0 1
Teratoid tumor, atypical 1 0 0 1
Thrombophilia due to thrombin defect 1 0 0 1
Torsion dystonia 6 0 1 0 1
Treacher Collins syndrome 3 0 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 1
Tuberous sclerosis 2 1 0 0 1
UBA2-related disorders 0 1 0 1
UMOD-related disorder 0 1 0 1
USP9X related disorders 0 1 0 1
Ullrich congenital muscular dystrophy 2 1 0 0 1
VARS2-related disorders 0 1 0 1
VCP-Related Disorders 0 1 0 1
VWF-related disorders 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 1
WARS2-Related Disorders 0 1 0 1
WT1-Related Disorders 1 0 0 1
Warfarin response 1 0 0 1
Wilson disease 1 0 0 1
X-linked agammaglobulinemia 1 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 0 0 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0 1 0 1
X-linked intellectual disability 0 1 0 1
X-linked intellectual disability Cabezas type 0 1 0 1
X-linked intellectual disability, Cantagrel type 0 1 0 1
beta Thalassemia 1 0 0 1
intellectual developmental disorder-50 with behavioral abnormalities (MRD50) 1 0 0 1
not specified 0 0 1 1
von Willebrand disease type 2 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.