ClinVar Miner

Variants from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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
331 317 466 1 0 1115

Gene and significance breakdown #

Total genes and gene combinations: 485
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 26 9 24 0 59
KCNQ1 31 12 8 0 51
SCN5A 19 11 21 0 51
KCNH2 32 10 8 0 50
RYR2 2 12 15 0 29
CACNA1C 1 2 18 0 21
PROC 3 9 3 0 15
PROS1 5 7 1 0 13
COL4A3, MFF-DT 2 6 3 0 11
COL4A5 7 3 1 0 11
KCNJ2 5 1 5 0 11
TTN 1 9 1 0 11
CACNA1A 3 2 5 0 10
SERPINC1 3 5 1 0 9
CREBBP 1 4 3 0 8
SCN8A 0 4 4 0 8
SETD5 2 4 1 0 7
ABCA3 0 0 6 0 6
ACVRL1 3 3 0 0 6
CHD8 2 3 1 0 6
DDX3X 4 1 1 0 6
F8 2 3 1 0 6
KCNQ2 2 3 1 0 6
ANKRD11 3 1 1 0 5
COL1A1 3 1 1 0 5
GRIN2B 2 1 2 0 5
KMT2A 4 1 0 0 5
LOC126806068, RYR2 1 3 1 0 5
NSD1 2 1 2 0 5
PKD2 3 0 2 0 5
SCN2A 0 4 1 0 5
USH2A 2 2 1 0 5
VWF 0 0 5 0 5
ADNP 3 1 0 0 4
ATRX 0 3 1 0 4
AUTS2 2 0 2 0 4
DYNC1H1 0 1 3 0 4
EHMT1 0 1 3 0 4
F7 0 4 0 0 4
F9 2 2 0 0 4
KCNE1 0 2 2 0 4
LZTR1 1 1 2 0 4
MECP2 2 0 2 0 4
MED13L 4 0 0 0 4
MYO15A 3 1 0 0 4
SNTA1 0 0 4 0 4
ADGRV1 0 0 3 0 3
APC 1 2 0 0 3
ARID1B 1 1 1 0 3
ASXL3 1 2 0 0 3
CASQ2 0 0 3 0 3
CDH23 1 1 1 0 3
CFTR 1 1 1 0 3
CHD2 1 1 1 0 3
CLTC 3 0 0 0 3
COL4A2 0 2 1 0 3
COL4A4 1 2 0 0 3
FOXP1 0 1 2 0 3
HCN4 0 0 3 0 3
KCNE2, LOC105372791 0 0 3 0 3
KIF1A 0 0 3 0 3
KMT2D 0 3 0 0 3
MED13 0 1 2 0 3
MYBPC3 1 0 2 0 3
NAA15 1 0 2 0 3
NIPBL 1 1 1 0 3
NR4A2 0 1 2 0 3
NRXN1 1 0 2 0 3
PCDH19 1 2 0 0 3
PKHD1 1 0 2 0 3
RBM20 0 2 1 0 3
SCN10A 0 1 2 0 3
SHANK2 1 0 2 0 3
SLC12A3 1 2 0 0 3
SMARCC2 1 0 2 0 3
SNHG14, UBE3A 0 2 1 0 3
STRC 1 0 2 0 3
TBX4 1 1 1 0 3
TCF4 2 0 1 0 3
TRPM4 0 0 3 0 3
ZEB2 2 1 0 0 3
AARS1 0 0 2 0 2
ACTB 0 2 0 0 2
ACTN2 0 0 2 0 2
AGTR1 0 0 2 0 2
ALKBH8 0 0 2 0 2
ATP7A 0 0 2 0 2
AVPR2 0 1 1 0 2
BAG3 0 1 1 0 2
BRCA1 0 1 1 0 2
BRD4 0 0 2 0 2
BRWD3 0 0 2 0 2
CACNA1G 0 0 2 0 2
CACNA2D1 0 0 2 0 2
CC2D2A 2 0 0 0 2
CEP290 2 0 0 0 2
CHD7 2 0 0 0 2
CHM 2 0 0 0 2
CLCN1 0 0 2 0 2
COL11A2 0 0 2 0 2
COL1A2 0 1 1 0 2
COL4A1 1 1 0 0 2
CPLANE1 0 0 2 0 2
CSF2RB 0 0 2 0 2
CSNK2A1 0 2 0 0 2
CTNNB1, LOC126806659 2 0 0 0 2
CYP21A2, LOC106780800 0 2 0 0 2
DEPDC5 0 2 0 0 2
DNAH11 0 1 1 0 2
DNM1 1 0 1 0 2
DNMT3A 2 0 0 0 2
DYNC2H1 0 2 0 0 2
ELP2 0 2 0 0 2
ENG 1 0 1 0 2
EP300 0 2 0 0 2
FGD1 1 1 0 0 2
GARS1 0 0 2 0 2
GATAD2B 2 0 0 0 2
GCM2 0 0 2 0 2
GRIN2A 0 0 2 0 2
HBA-LCR, NPRL3 1 1 0 0 2
HDAC8 0 2 0 0 2
HERC1 0 0 2 0 2
HERC2 0 0 2 0 2
HIVEP2 0 1 1 0 2
IQSEC2 1 1 0 0 2
ITPR1 1 0 1 0 2
JAG1 0 1 1 0 2
JAG2 1 1 0 0 2
KCNE3 0 0 2 0 2
KCNJ5 0 0 2 0 2
KCNQ1, KCNQ1OT1, LOC106783508, LOC132089927, LOC132090832 1 1 0 0 2
KDM5C 1 1 0 0 2
KDM6A 0 1 1 0 2
LMNA 1 1 0 0 2
LOC102724058, SCN1A 0 2 0 0 2
LOC110121269, SCN5A 0 0 2 0 2
MEN1 1 0 1 0 2
MERTK 1 1 0 0 2
MFN2 0 0 2 0 2
MPZ 1 0 1 0 2
MSH6 1 0 1 0 2
MYH14 0 0 2 0 2
MYH3 0 2 0 0 2
MYH6 0 0 2 0 2
MYH7 0 1 1 0 2
NDUFAF5 1 1 0 0 2
NFIX 1 1 0 0 2
OFD1 2 0 0 0 2
OTOG 1 0 1 0 2
PHF21A 2 0 0 0 2
RYR1 0 1 1 0 2
SCN4B 0 0 2 0 2
SETD2 1 0 1 0 2
SETX 0 0 2 0 2
SHANK3 2 0 0 0 2
SLC2A1 1 1 0 0 2
SLC35A2 0 1 1 0 2
SLC6A1 1 0 1 0 2
SOS2 0 0 2 0 2
SOX17 1 1 0 0 2
SPTAN1 0 0 2 0 2
SRCAP 1 0 1 0 2
STXBP1 1 0 1 0 2
TBR1 1 1 0 0 2
TET3 0 1 1 0 2
TMEM260 2 0 0 0 2
TMEM94 0 0 2 0 2
TP63 0 1 1 0 2
TRIO 0 0 2 0 2
TRIP12 2 0 0 0 2
TRPC6 0 0 2 0 2
TRRAP 0 1 1 0 2
TSEN2 0 0 2 0 2
​intergenic 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CCDC187, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DKFZP434A062, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, HSPC324, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC01451, LINC01502, LINC02692, LINC02846, LINC02907, LINC02908, LOC100128593, LOC101928525, LOC102723971, LOC105376314, LOC107987142, LOC108254693, LOC110121282, LOC113839538, LOC113839539, LOC113839540, LOC113839541, LOC116216103, LOC116216104, LOC121366035, LOC121811720, LOC121811721, LOC122513141, LOC124375242, LOC124375243, LOC124375244, LOC124375245, LOC124375246, LOC124375247, LOC124375248, LOC124375249, LOC124375250, LOC124375251, LOC126860788, LOC126860789, LOC126860790, LOC126860791, LOC126860792, LOC126860793, LOC126860794, LOC126860795, LOC126860796, LOC130002969, LOC130002970, LOC130002971, LOC130002972, LOC130002973, LOC130002974, LOC130002975, LOC130002976, LOC130002977, LOC130002978, LOC130002979, LOC130002980, LOC130002981, LOC130002982, LOC130002983, LOC130002984, LOC130002985, LOC130002986, LOC130002987, LOC130002988, LOC130002989, LOC130002990, LOC130002991, LOC130002992, LOC130002993, LOC130002994, LOC130002995, LOC130002996, LOC130002997, LOC130002998, LOC130002999, LOC130003000, LOC130003001, LOC130003002, LOC130003003, LOC130003004, LOC130003005, LOC130003006, LOC130003007, LOC130003008, LOC130003009, LOC130003010, LOC130003011, LOC130003012, LOC130003013, LOC130003014, LOC130003015, LOC130003016, LOC130003017, LOC130003018, LOC130003019, LOC130003020, LOC130003021, LOC130003022, LOC130003023, LOC130003024, LOC130003025, LOC130003026, LOC130003027, LOC130003028, LOC130003029, LOC130003030, LOC130003031, LOC130003032, LOC130003033, LOC130003034, LOC130003035, LOC130003036, LOC130003037, LOC130003038, LOC130003039, LOC130003040, LOC130003041, LOC130003042, LOC130003043, LOC130003044, LOC130003045, LOC130003046, LOC130003047, LOC130003048, LOC130003049, LOC130003050, LOC130003051, LOC130003052, LOC130003053, LOC130003054, LOC130003055, LOC130003056, LOC130003057, LOC130003058, LOC130003059, LOC130003060, LOC130003061, LOC130003062, LOC130003063, LOC130003064, LOC130003065, LOC130003066, LOC130003067, LOC130003068, LOC130003069, LOC130003070, LOC130003071, LOC130003072, LOC130003073, LOC130003074, LOC130003075, LOC130003076, LOC130003077, LOC130003078, LOC130003079, LOC130003080, LOC130003081, LOC130003082, LOC130003083, LOC130003084, LOC130003085, LOC130003086, LOC130003087, LOC130003088, LOC130003089, LOC130003090, LOC130003091, LOC130003092, LOC130003093, LOC130003094, LOC130003095, LOC130003096, LOC130003097, LOC130003098, LOC130003099, LOC130003100, LOC130003101, LOC401557, LRRC26, MAMDC4, MAN1B1, MAN1B1-DT, MIR126, MIR3621, MIR4292, MIR4479, MIR4673, MIR4674, MIR6722, MRPS2, NACC2, NALT1, NDOR1, NELFB, NOTCH1, NPDC1, OBP2A, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SNORA17A, SNORA17B, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1 1 0 0 0 1
ABCC9 0 0 1 0 1
ABCD1 1 0 0 0 1
ACADSB 0 0 1 0 1
ACAN 1 0 0 0 1
ACSL4 0 0 1 0 1
ADA2 1 0 0 0 1
AFF2 0 0 1 0 1
AGO2 0 1 0 0 1
AGXT 1 0 0 0 1
AHDC1 0 0 0 1 1
AKAP9 0 0 1 0 1
AKAP9, LOC121175350 0 0 1 0 1
ALDH18A1 0 1 0 0 1
ALDH5A1 0 0 1 0 1
ALG8 0 1 0 0 1
ALPK3 0 1 0 0 1
ANK2, LOC126807137 0 0 1 0 1
ANO10 0 1 0 0 1
ARHGAP24 0 0 1 0 1
ARHGEF10 0 0 1 0 1
ARX 0 0 1 0 1
ASH1L 0 0 1 0 1
ASPM 1 0 0 0 1
ASXL2 0 1 0 0 1
ATP1A2 0 0 1 0 1
ATP1A3 0 1 0 0 1
ATP6V1B2 0 0 1 0 1
B4GALNT1 0 1 0 0 1
B9D2 0 1 0 0 1
BBS1, ZDHHC24 0 0 1 0 1
BCOR, LOC126863239 0 1 0 0 1
BICC1 1 0 0 0 1
BLK 0 0 1 0 1
BMPR2 1 0 0 0 1
BRAT1 0 0 1 0 1
C10orf105, CDH23 0 0 1 0 1
C1S 0 0 1 0 1
CACNA1H 0 0 1 0 1
CACNA1S 0 1 0 0 1
CACNB2 0 0 1 0 1
CALM2 0 1 0 0 1
CAMTA1 0 0 1 0 1
CAPN3 0 0 1 0 1
CASK 0 0 1 0 1
CASQ1 0 0 1 0 1
CASR 0 1 0 0 1
CAV3 0 0 1 0 1
CAV3, OXTR 0 0 1 0 1
CBL 0 0 1 0 1
CD36 0 1 0 0 1
CDH2 0 0 1 0 1
CDK5RAP2 1 0 0 0 1
CHD3 0 1 0 0 1
CLCN2 0 0 1 0 1
CNOT3 1 0 0 0 1
COL11A1 0 1 0 0 1
COL12A1, LOC126859712 0 0 1 0 1
COL2A1 0 1 0 0 1
COPB2 0 0 1 0 1
CRPPA 0 0 1 0 1
CSF2RA 0 0 1 0 1
CTBP1 0 0 1 0 1
CTCF 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CUL4B 0 1 0 0 1
CUX1 0 0 1 0 1
CYFIP2, NIPAL4-DT 0 0 1 0 1
CYP24A1 1 0 0 0 1
D2HGDH 0 0 1 0 1
DCC 0 0 1 0 1
DDOST 0 0 1 0 1
DEAF1 0 0 1 0 1
DES 0 1 0 0 1
DIAPH3 0 0 1 0 1
DIP2B 0 0 1 0 1
DLL1 0 1 0 0 1
DNAAF2 0 1 0 0 1
DNM2 0 0 1 0 1
DOCK3 0 0 1 0 1
DPP6 0 0 1 0 1
DPYD 0 1 0 0 1
DSG1 0 0 1 0 1
DSG2 0 0 1 0 1
DSP 0 0 1 0 1
DSTYK 0 0 1 0 1
DYNC2I2 0 1 0 0 1
DYRK1A 0 0 1 0 1
EBF3 0 1 0 0 1
EED 0 0 1 0 1
EFHC2 0 0 1 0 1
EGFR 0 1 0 0 1
EME2, MRPS34 1 0 0 0 1
ENG, LOC102723566 1 0 0 0 1
ERAL1, LOC126862526 0 0 1 0 1
ERBB3 0 0 1 0 1
EYS 1 0 0 0 1
F13A1 1 0 0 0 1
F2 1 0 0 0 1
F5 0 0 1 0 1
FAT3 0 0 1 0 1
FBN1 0 0 1 0 1
FBN2 0 0 1 0 1
FBXO11 0 1 0 0 1
FBXO38 0 0 1 0 1
FGF14 0 1 0 0 1
FGFR1 1 0 0 0 1
FGFR3 0 0 1 0 1
FLCN 0 1 0 0 1
FLNA 0 0 1 0 1
FLNB 0 0 1 0 1
FLNC 0 0 1 0 1
FN1, LOC126806498 0 0 1 0 1
FOXF1 0 1 0 0 1
FOXG1 1 0 0 0 1
FOXH1, KIFC2 0 0 1 0 1
FTSJ1 0 0 1 0 1
FZR1 0 0 1 0 1
GABRA1 0 1 0 0 1
GATA6 1 0 0 0 1
GCDH 0 1 0 0 1
GDF2 0 0 1 0 1
GJA1 0 1 0 0 1
GJB1 0 0 1 0 1
GJB2 0 1 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 1
GLI2 0 1 0 0 1
GLI3 1 0 0 0 1
GNAI1 0 0 1 0 1
GPD1L 0 0 1 0 1
GRIA3 0 0 1 0 1
GRIK2 0 1 0 0 1
GRIN1 0 0 1 0 1
H3-3B 0 1 0 0 1
HCFC1 0 0 1 0 1
HNF1B 1 0 0 0 1
HSPG2 0 0 1 0 1
HUWE1, LOC126863262 0 0 1 0 1
IFT140 1 0 0 0 1
IGF1R 0 1 0 0 1
IRAK1BP1, PHIP 1 0 0 0 1
KAT6A 1 0 0 0 1
KAT6B 0 0 1 0 1
KCNA1 0 1 0 0 1
KCND3 0 0 1 0 1
KCNH1 0 1 0 0 1
KCNJ18 0 0 1 0 1
KCNJ8 0 0 1 0 1
KCNQ4 0 1 0 0 1
KCNQ5 0 0 1 0 1
KDM4B 0 1 0 0 1
KDM5B 1 0 0 0 1
KIF11 0 1 0 0 1
KIF4A 0 0 1 0 1
KLHL15, LOC114022706 0 0 1 0 1
KLHL7 1 0 0 0 1
KMT2A, TTC36 1 0 0 0 1
KMT2C 1 0 0 0 1
KMT5B 1 0 0 0 1
LAGE3 0 0 1 0 1
LAMA2 0 0 1 0 1
LDB3 0 0 1 0 1
LHX4 0 0 1 0 1
LINS1 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 0 1 0 0 1
LOC114803470, SCN8A 0 1 0 0 1
LOC126806426, TTN 0 1 0 0 1
LOC126861356, SCN4B 0 0 1 0 1
LOC126861831, NALCN 0 0 1 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 1
LOC129992813, PKD2 1 0 0 0 1
LOC129996783, ZNF292 0 0 1 0 1
LOC130003079, MAN1B1 0 1 0 0 1
LOXHD1 1 0 0 0 1
LRRK2 0 0 1 0 1
LZTFL1 1 0 0 0 1
MAN2B1 0 0 1 0 1
MANBA 0 0 1 0 1
MAPT 1 0 0 0 1
MBD5 0 0 1 0 1
MED12 0 0 1 0 1
MEF2C 0 1 0 0 1
MEIS2 0 1 0 0 1
METTL5 0 1 0 0 1
MITF 0 0 1 0 1
MLH1 1 0 0 0 1
MME 0 0 1 0 1
MPDZ 0 0 1 0 1
MRAS 0 1 0 0 1
MRPS34 0 1 0 0 1
MTMR2 0 0 1 0 1
MYCBP2 1 0 0 0 1
MYH9 0 1 0 0 1
MYL2 0 0 1 0 1
MYO16 0 1 0 0 1
MYO6 0 0 1 0 1
MYRF 0 1 0 0 1
MYT1L 0 1 0 0 1
NALCN 0 1 0 0 1
NDUFB7 0 0 1 0 1
NEFL 0 0 1 0 1
NFIB 0 0 1 0 1
NKX2-1, SFTA3 0 1 0 0 1
NKX2-5 0 1 0 0 1
NLGN4X 0 0 1 0 1
NOTCH2 0 0 1 0 1
NOTCH3 1 0 0 0 1
NPHP3-ACAD11, UBA5 0 0 1 0 1
NPRL2 0 0 1 0 1
NR2E3 0 0 1 0 1
NR2F1 1 0 0 0 1
NTHL1 0 1 0 0 1
OGT 0 0 1 0 1
OSBPL2 0 0 1 0 1
OTC 0 0 1 0 1
OTOA 0 0 1 0 1
P2RX2 0 0 1 0 1
PALB2 0 0 1 0 1
PAN2 0 0 1 0 1
PAX2 0 1 0 0 1
PBX1 0 1 0 0 1
PDE2A 0 0 1 0 1
PDE6B 0 1 0 0 1
PDZD7 1 0 0 0 1
PGK1 0 0 1 0 1
PHKA2 0 0 1 0 1
PIGG 0 0 1 0 1
PIK3R2 0 1 0 0 1
PITX1 0 0 1 0 1
PLCE1 0 1 0 0 1
PMPCA 0 0 1 0 1
PMS2 1 0 0 0 1
POLG, POLGARF 0 0 1 0 1
POLR2F, SOX10 0 1 0 0 1
PORCN 0 1 0 0 1
POU3F4 1 0 0 0 1
PPM1D 1 0 0 0 1
PPP2R5D 0 0 1 0 1
PQBP1 0 1 0 0 1
PRICKLE2 0 0 1 0 1
PRKCG 0 0 1 0 1
PRKCSH 1 0 0 0 1
PSEN1 0 1 0 0 1
PSMD12 0 1 0 0 1
PTCHD1 0 0 1 0 1
PTEN 0 1 0 0 1
PTPN11 0 0 1 0 1
PUF60 1 0 0 0 1
PURA 0 1 0 0 1
RAI1 1 0 0 0 1
RASA1 1 0 0 0 1
RBBP8 0 0 1 0 1
RBL2 1 0 0 0 1
RELN 0 0 1 0 1
RPGR 0 1 0 0 1
RPGRIP1L 1 0 0 0 1
RSPH4A 1 0 0 0 1
RSRC1 0 1 0 0 1
SATB2 0 0 1 0 1
SCN1A 0 1 0 0 1
SCN1B 0 0 1 0 1
SCN4A 0 0 1 0 1
SEC63 1 0 0 0 1
SETBP1 0 0 1 0 1
SETD1B 0 0 1 0 1
SFTPC 0 0 1 0 1
SH2B1 1 0 0 0 1
SHH 0 0 1 0 1
SHROOM4 0 0 1 0 1
SLC12A2 0 0 1 0 1
SLC1A2 0 0 1 0 1
SLC4A1 1 0 0 0 1
SMAD9 0 0 1 0 1
SMARCA2 0 1 0 0 1
SON 0 0 1 0 1
SOX11 0 1 0 0 1
SOX5 1 0 0 0 1
SPAST 0 1 0 0 1
SRRM2 0 1 0 0 1
STAG1 1 0 0 0 1
STAG2 0 0 1 0 1
SUCLA2 0 0 1 0 1
SYN1 0 1 0 0 1
SYNE1 1 0 0 0 1
SYNGAP1 1 0 0 0 1
TAFAZZIN 0 0 1 0 1
TAPBPL, VAMP1 0 0 1 0 1
TBCEL-TECTA, TECTA 0 0 1 0 1
TBL1XR1 1 0 0 0 1
TCF12 1 0 0 0 1
TGFBR2 0 1 0 0 1
TMEM67 0 1 0 0 1
TMPRSS3 0 1 0 0 1
TUBA1A 1 0 0 0 1
TUBB2A 0 0 1 0 1
UPF3B 0 0 1 0 1
USP9X 0 0 1 0 1
WAC 0 0 1 0 1
WDR45 0 0 1 0 1
WNK1 0 0 1 0 1
XYLT2 0 0 1 0 1
YWHAZ 0 1 0 0 1
ZBTB18 1 0 0 0 1
ZIC3 0 1 0 0 1
ZMYM2 1 0 0 0 1
ZMYND11 0 0 1 0 1
ZNF292 0 0 1 0 1
ZNF462 1 0 0 0 1
ZNF711 0 0 1 0 1
ZNF81 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 496
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 26 9 24 0 59
Long QT syndrome 1 32 13 7 0 52
Long QT syndrome 2 32 10 8 0 50
Catecholaminergic polymorphic ventricular tachycardia 1 3 15 15 0 33
Brugada syndrome 1 12 8 8 0 28
Long QT syndrome 3 7 3 16 0 26
Timothy syndrome 1 2 14 0 17
Thrombophilia due to protein C deficiency, autosomal dominant 3 9 3 0 15
Thrombophilia due to protein S deficiency, autosomal dominant 5 7 1 0 13
Dilated cardiomyopathy 1G 1 10 1 0 12
Andersen Tawil syndrome 5 1 5 0 11
X-linked Alport syndrome 7 3 1 0 11
Hearing impairment 1 0 8 0 9
Hereditary antithrombin deficiency 3 5 1 0 9
Rubinstein-Taybi syndrome due to CREBBP mutations 1 4 3 0 8
Cognitive impairment with or without cerebellar ataxia 0 3 4 0 7
Autosomal dominant Alport syndrome 2 2 2 0 6
Brugada syndrome 0 1 5 0 6
Cerebellar ataxia 1 0 5 0 6
Hereditary factor VIII deficiency disease 2 3 1 0 6
Intellectual disability 2 2 2 0 6
Intellectual disability, X-linked 102 4 1 1 0 6
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 4 0 0 6
Interstitial lung disease due to ABCA3 deficiency 0 0 6 0 6
Polycystic kidney disease 2 4 0 2 0 6
Telangiectasia, hereditary hemorrhagic, type 2 3 3 0 0 6
Wiedemann-Steiner syndrome 5 1 0 0 6
Developmental and epileptic encephalopathy, 7 1 3 1 0 5
Episodic ataxia type 2 2 1 2 0 5
Intellectual developmental disorder with autism and macrocephaly 1 3 1 0 5
KBG syndrome 3 1 1 0 5
Sotos syndrome 2 1 2 0 5
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 3 1 0 0 4
Autism 1 0 3 0 4
Autism spectrum disorder due to AUTS2 deficiency 2 0 2 0 4
Autosomal recessive Alport syndrome 0 3 1 0 4
Autosomal recessive nonsyndromic hearing loss 3 3 1 0 0 4
Benign familial hematuria 1 3 0 0 4
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 4 0 0 0 4
Congenital factor VII deficiency 0 4 0 0 4
Developmental and epileptic encephalopathy, 11 0 3 1 0 4
Hereditary factor IX deficiency disease 2 2 0 0 4
Intellectual disability, autosomal dominant 13 0 1 3 0 4
Long QT syndrome 12 0 0 4 0 4
Long QT syndrome 5 0 2 2 0 4
Osteogenesis imperfecta type III 1 2 1 0 4
Usher syndrome type 2A 2 1 1 0 4
Alpha thalassemia-X-linked intellectual disability syndrome 0 2 1 0 3
Angelman syndrome 0 2 1 0 3
Autism, susceptibility to, 17 1 0 2 0 3
Autosomal recessive nonsyndromic hearing loss 12 1 1 1 0 3
Brugada syndrome 8 0 0 3 0 3
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 3 0 3
Coffin-Siris syndrome 1 1 1 1 0 3
Coffin-Siris syndrome 8 1 0 2 0 3
Complex neurodevelopmental disorder 0 2 1 0 3
Cornelia de Lange syndrome 1 1 1 1 0 3
Developmental and epileptic encephalopathy 94 1 1 1 0 3
Developmental and epileptic encephalopathy, 42 0 1 2 0 3
Developmental and epileptic encephalopathy, 9 1 2 0 0 3
Dilated cardiomyopathy 1DD 0 2 1 0 3
Familial adenomatous polyposis 1 1 2 0 0 3
Familial hypokalemia-hypomagnesemia 1 2 0 0 3
Febrile seizures, familial, 4 0 0 3 0 3
Hypertrophic cardiomyopathy 4 1 0 2 0 3
Intellectual disability, autosomal dominant 56 3 0 0 0 3
Intellectual disability, autosomal dominant 6 2 0 1 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 2 0 3
Kabuki syndrome 1 0 3 0 0 3
Kleefstra syndrome 1 0 1 2 0 3
Long QT syndrome 10 0 0 3 0 3
Long QT syndrome 6 0 0 3 0 3
Mowat-Wilson syndrome 2 1 0 0 3
Noonan syndrome 10 1 0 2 0 3
Pitt-Hopkins syndrome 2 0 1 0 3
Porencephaly 2 0 2 1 0 3
See cases 2 0 1 0 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 2 0 0 3
Severe intellectual disability-progressive spastic diplegia syndrome 3 0 0 0 3
Telangiectasia, hereditary hemorrhagic, type 1 2 0 1 0 3
von Willebrand disease type 1 0 0 3 0 3
Aarskog syndrome 1 1 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 1 0 2
Amyotrophic lateral sclerosis type 4 0 0 2 0 2
Asphyxiating thoracic dystrophy 3 0 2 0 0 2
Autism, susceptibility to, 5 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 16 1 0 1 0 2
Autosomal recessive polycystic kidney disease 1 0 1 0 2
Baraitser-Winter syndrome 1 0 2 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 0 1 1 0 2
CBL-related disorder 0 0 2 0 2
CHARGE association 2 0 0 0 2
Choroideremia 2 0 0 0 2
Clark-Baraitser syndrome 2 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 2 0 0 2
Combined oxidative phosphorylation deficiency 32 1 1 0 0 2
Cornelia de Lange syndrome 5 0 2 0 0 2
Coxopodopatellar syndrome 1 1 0 0 2
Cystic fibrosis 1 0 1 0 2
De Lange syndrome 0 0 2 0 2
Developmental and epileptic encephalopathy, 13 0 2 0 0 2
Developmental and epileptic encephalopathy, 29 0 0 2 0 2
Developmental and epileptic encephalopathy, 31 1 0 1 0 2
Developmental and epileptic encephalopathy, 4 1 0 1 0 2
Developmental and epileptic encephalopathy, 5 0 0 2 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 2
Developmental delay with or without dysmorphic facies and autism 0 1 1 0 2
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 1 0 1 0 2
Diabetes insipidus, nephrogenic, X-linked 0 1 1 0 2
Dilated cardiomyopathy 1A 1 1 0 0 2
Dilated cardiomyopathy 1AA 0 0 2 0 2
Dilated cardiomyopathy 1HH 0 1 1 0 2
Epilepsy, familial focal, with variable foci 1 0 2 0 0 2
Epilepsy, familial focal, with variable foci 3 1 1 0 0 2
Focal segmental glomerulosclerosis 2 0 0 2 0 2
Gillespie syndrome 1 0 1 0 2
Hyperparathyroidism 4 0 0 2 0 2
Hypertrophic cardiomyopathy 1 0 1 1 0 2
Hypertrophic cardiomyopathy 14 0 0 2 0 2
Intellectual developmental disorder 61 0 0 2 0 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 2 0 0 0 2
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 2 0 2
Intellectual developmental disorder, autosomal dominant 64 0 0 2 0 2
Intellectual developmental disorder, autosomal recessive 71 0 0 2 0 2
Intellectual disability, X-linked 93 0 0 2 0 2
Intellectual disability, autosomal dominant 43 0 1 1 0 2
Intellectual disability, autosomal dominant 50 0 0 2 0 2
Intellectual disability, autosomal dominant 9 0 0 2 0 2
Intellectual disability, autosomal recessive 58 0 2 0 0 2
Joubert syndrome 17 0 0 2 0 2
Joubert syndrome 9 2 0 0 0 2
Kabuki syndrome 2 0 1 1 0 2
Landau-Kleffner syndrome 0 0 2 0 2
Long QT syndrome 11 0 0 2 0 2
Long QT syndrome 13 0 0 2 0 2
Long QT syndrome 9 0 0 2 0 2
Luscan-Lumish syndrome 1 0 1 0 2
Lynch syndrome 5 1 0 1 0 2
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 2 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 2 0 2
Mitochondrial complex 1 deficiency, nuclear type 16 1 1 0 0 2
Multiple endocrine neoplasia, type 1 1 0 1 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 27 1 1 0 0 2
Myoclonic-astatic epilepsy 1 0 1 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 1 0 2
Noonan syndrome 9 0 0 2 0 2
Okur-Chung neurodevelopmental syndrome 0 2 0 0 2
Ornithine carbamoyltransferase deficiency 0 0 2 0 2
Osteogenesis imperfecta type I 1 0 1 0 2
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 2 0 2
Phelan-McDermid syndrome 2 0 0 0 2
Pitt-Hopkins-like syndrome 2 0 0 2 0 2
Pontocerebellar hypoplasia type 2B 0 0 2 0 2
Primary ciliary dyskinesia 7 0 1 1 0 2
Prolonged QT interval 0 0 2 0 2
Pulmonary hypertension, primary, 1 1 0 1 0 2
RASopathy 0 1 1 0 2
Renal tubular dysgenesis of genetic origin 0 0 2 0 2
Retinitis pigmentosa 38 1 1 0 0 2
Rett syndrome 2 0 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 2 0 0 2
SLC35A2-congenital disorder of glycosylation 0 1 1 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 0 0 0 2
Severe myoclonic epilepsy in infancy 0 2 0 0 2
Short QT syndrome 0 0 2 0 2
Structural heart defects and renal anomalies syndrome 2 0 0 0 2
Surfactant metabolism dysfunction, pulmonary, 5 0 0 2 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 1 1 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 2 0 0 0 2
von Willebrand disease type 2 0 0 2 0 2
8q24.3 microdeletion syndrome 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 0 1 1
Adrenoleukodystrophy 1 0 0 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 0 1 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 0 1
Alport syndrome 0 1 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 1 0 0 1
Alzheimer disease 3 0 1 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 1
Arthrogryposis, distal, type 2B3 0 1 0 0 1
Atrial septal defect 3 0 0 1 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Autism; Cerebellar ataxia; Global developmental delay; Seizure; Hypotonia 0 0 1 0 1
Autosomal dominant Parkinson disease 8 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal dominant non-syndromic intellectual disability 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 2A 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 67 0 0 1 0 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 0 1
Autosomal recessive ataxia, Beauce type 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 0 1
Bardet-Biedl syndrome 1 0 0 1 0 1
Bardet-Biedl syndrome 17 1 0 0 0 1
Beck-Fahrner syndrome 0 1 0 0 1
Beta-D-mannosidosis 0 0 1 0 1
Bethlem myopathy 2 0 0 1 0 1
Birt-Hogg-Dube syndrome 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 1
Blepharophimosis-impaired intellectual development syndrome 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 1
Brain-lung-thyroid syndrome 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 1 0 1
Brugada syndrome 2 0 0 1 0 1
Brugada syndrome 3 0 0 1 0 1
Brugada syndrome 4 0 0 1 0 1
Brugada syndrome 9 0 0 1 0 1
Brunet-Wagner neurodevelopmental syndrome 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 1
CDK8-kinase module-associated disorder 0 1 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 1
Cardiac-urogenital syndrome 0 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 0 1
Caused by mutation in the tafazzin gene 0 0 1 0 1
Central core myopathy 0 1 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2T 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 0 0 1 0 1
Charcot-Marie-Tooth disease type 2D 0 0 1 0 1
Charcot-Marie-Tooth disease type 2E 0 0 1 0 1
Charcot-Marie-Tooth disease type 2J 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B1 0 0 1 0 1
Childhood onset GLUT1 deficiency syndrome 2 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 0 1
Clubfoot 0 0 1 0 1
Cohen-Gibson syndrome 0 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 1
Congenital contractural arachnodactyly 0 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 1
Congenital factor V deficiency 0 0 1 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 1
Congenital myotonia, autosomal recessive form 0 0 1 0 1
Congenital prothrombin deficiency 1 0 0 0 1
Cutis laxa, autosomal dominant 3 0 1 0 0 1
D-2-hydroxyglutaric aciduria 1 0 0 1 0 1
DYRK1A-related intellectual disability syndrome 0 0 1 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 0 1 0 1
Deafness 1 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 1 0 1
Deficiency of alpha-mannosidase 0 0 1 0 1
Delpire-McNeill syndrome 0 0 1 0 1
Developmental and epileptic encephalopathy 99 0 1 0 0 1
Developmental and epileptic encephalopathy, 27 0 0 1 0 1
Developmental and epileptic encephalopathy, 41 0 0 1 0 1
Developmental and epileptic encephalopathy, 44 0 0 1 0 1
Developmental and epileptic encephalopathy, 65 0 0 1 0 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 0 1
Dilated cardiomyopathy 1I 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 1
Distal arthrogryposis 0 1 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 0 1
Ehlers-Danlos syndrome, periodontal type 2 0 0 1 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 1 0 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13 0 1 0 0 1
Episodic ataxia type 1 0 1 0 0 1
FG syndrome 4 0 0 1 0 1
FRAXE 0 0 1 0 1
Fabry disease 1 0 0 0 1
Factor XIII, A subunit, deficiency of 1 0 0 0 1
Familial adenomatous polyposis 3 0 1 0 0 1
Familial hypocalciuric hypercalcemia 1 0 1 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 1
Focal dermal hypoplasia 0 1 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 1
Frontotemporal dementia 1 0 0 0 1
Galloway-Mowat syndrome 2, X-linked 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 1
Global developmental delay 0 0 1 0 1
Global developmental delay with or without impaired intellectual development 0 0 1 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 1
Glutaric aciduria, type 1 0 1 0 0 1
Glycogen storage disease IXa1 0 0 1 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 1
Hereditary spastic paraplegia 26 0 1 0 0 1
Hereditary spastic paraplegia 30 0 0 1 0 1
Hereditary spastic paraplegia 4 0 1 0 0 1
Hereditary spherocytosis type 2 1 0 0 0 1
Hereditary spherocytosis type 4 1 0 0 0 1
Heterotaxy, visceral, 1, X-linked 0 1 0 0 1
Hogue-Janssens syndrome 1 0 0 1 0 1
Holoprosencephaly 3 0 0 1 0 1
Holoprosencephaly 9 0 1 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 1 0 1
Hypercalcemia, infantile, 1 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 0 1 0 1
Hypertrophic cardiomyopathy 10 0 0 1 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 1
Hypokalemic periodic paralysis, type 1 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 0 1 0 1
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 0 1 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 72 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 70 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 72 0 1 0 0 1
Intellectual disability and myopathy syndrome 0 0 1 0 1
Intellectual disability, FRA12A type 0 0 1 0 1
Intellectual disability, X-linked 1 1 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 1
Intellectual disability, X-linked 103 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, X-linked 63 0 0 1 0 1
Intellectual disability, X-linked 9 0 0 1 0 1
Intellectual disability, X-linked 97 0 0 1 0 1
Intellectual disability, X-linked 99 0 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, autosomal dominant 1 0 0 1 0 1
Intellectual disability, autosomal dominant 20 0 1 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 27 0 1 0 0 1
Intellectual disability, autosomal dominant 29 0 0 1 0 1
Intellectual disability, autosomal dominant 30 0 0 1 0 1
Intellectual disability, autosomal dominant 33 0 0 1 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 1
Intellectual disability, autosomal dominant 41 1 0 0 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 1
Intellectual disability, autosomal dominant 47 1 0 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 1 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 1
Intellectual disability, autosomal recessive 53 0 0 1 0 1
Intellectual disability, autosomal recessive 65 1 0 0 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 0 1 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 1 0 0 1
Joubert syndrome 5 1 0 0 0 1
Joubert syndrome 7 1 0 0 0 1
KCNH1-related phenotype 0 1 0 0 1
Kleefstra syndrome 2 1 0 0 0 1
Lacrimoauriculodentodigital syndrome 2 0 0 1 0 1
Lamb-Shaffer syndrome 1 0 0 0 1
Larsen syndrome 0 0 1 0 1
Lessel-Kreienkamp syndrome 0 1 0 0 1
Lethal congenital contracture syndrome 2 0 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 1
Loeys-Dietz syndrome 2 0 1 0 0 1
Long QT syndrome 0 0 1 0 1
Long QT syndrome 15 0 1 0 0 1
Long qt syndrome 8 0 0 1 0 1
Lung cancer 0 1 0 0 1
Lynch syndrome 4 1 0 0 0 1
MYO16-associated developmental delay 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 0 1 0 1
Macrocephaly-autism syndrome 0 1 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 1 0 0 1
Malan overgrowth syndrome 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 1
Marfan syndrome 0 0 1 0 1
Marshall syndrome 0 1 0 0 1
Marshall-Smith syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 11 0 0 1 0 1
Meckel syndrome, type 10 0 1 0 0 1
Meckel syndrome, type 3 0 1 0 0 1
Meckel syndrome, type 4 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 1
Microcephaly 0 1 0 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 1
Migraine, familial hemiplegic, 2 0 0 1 0 1
Mirror movements 1 0 0 1 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 39 0 0 1 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0 0 1 0 1
Myasthenic syndrome, congenital, 25, presynaptic 0 0 1 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 1 0 1
Neonatal-onset encephalopathy with rigidity and seizures 0 0 1 0 1
Nephrotic syndrome, type 3 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 0 1 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 1 0 1
Neuronopathy, distal hereditary motor, type 5A 0 0 1 0 1
Neuropathy, hereditary sensory and autonomic, type 2A 0 0 1 0 1
Non-syndromic X-linked intellectual disability 0 0 1 0 1
Noonan syndrome 1 0 0 1 0 1
Noonan syndrome 2 0 1 0 0 1
Noonan-like disorder 0 1 0 0 1
Oculodentodigital dysplasia 0 1 0 0 1
Oculofaciocardiodental syndrome 0 1 0 0 1
Orofaciodigital syndrome I 1 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 0 1
Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 0 0 1 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 1
Paramyotonia congenita of Von Eulenburg 0 0 1 0 1
Platelet-type bleeding disorder 10 0 1 0 0 1
Polycystic kidney disease 4 0 0 1 0 1
Polycystic liver disease 1 1 0 0 0 1
Polycystic liver disease 2 1 0 0 0 1
Polycystic liver disease 3 with or without kidney cysts 0 1 0 0 1
Primary ciliary dyskinesia 10 0 1 0 0 1
Primary ciliary dyskinesia 11 1 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Pulmonary arterial hypertension 1 0 0 0 1
Pulmonary hypertension, primary, 2 0 0 1 0 1
Rafiq syndrome 0 1 0 0 1
Renal cysts and diabetes syndrome 1