ClinVar Miner

Variants from Genetics and Molecular Pathology, SA Pathology

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

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
685 447 619 73 38 1862

Gene and significance breakdown #

Total genes and gene combinations: 793
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 26 5 23 8 8 70
F8 16 24 10 1 0 51
VWF 15 12 21 0 1 49
PALB2 14 2 10 2 1 29
BRCA1 15 3 4 2 4 28
MSH6 16 5 2 0 1 24
RB1 15 3 2 0 0 20
CHEK2 7 3 9 0 0 19
RET 2 1 5 0 9 17
USH2A 10 4 3 0 0 17
NF1 10 2 3 0 0 15
NF2 11 0 4 0 0 15
MSH2 10 1 2 1 0 14
MYBPC3 10 2 2 0 0 14
DNAH11 0 2 9 2 0 13
LDLR 7 5 1 0 0 13
ABCA4 9 2 1 0 0 12
BRIP1 2 2 5 3 0 12
GCK 4 5 3 0 0 12
HBB, LOC106099062, LOC107133510 8 3 1 0 0 12
LZTR1 3 4 5 0 0 12
MLH1 6 3 3 0 0 12
CASR 2 4 4 1 0 11
DNAH5 1 1 9 0 0 11
FOXC1 10 0 1 0 0 11
DUOX2 3 4 3 0 0 10
PAX6 9 0 0 0 0 9
PTPN11 9 0 0 0 0 9
RYR1 3 1 5 0 0 9
MYH7 2 2 4 0 0 8
MYH9 4 3 1 0 0 8
PITX2 6 0 2 0 0 8
FBN1 1 4 2 0 0 7
PMS2 0 3 2 1 1 7
POLG 2 3 2 0 0 7
PTEN 3 0 3 0 1 7
TGFBI 5 2 0 0 0 7
TP53 1 4 1 0 1 7
ACVRL1 1 4 1 0 0 6
ANKRD11 2 2 1 1 0 6
ATM, C11orf65 5 1 0 0 0 6
BRCA1, LOC126862571 4 0 0 0 2 6
CACNA1C 0 1 4 0 1 6
CFTR 2 0 3 1 0 6
COL2A1 1 3 2 0 0 6
COL3A1 1 1 4 0 0 6
F9 2 4 0 0 0 6
KMT2D 3 0 3 0 0 6
MYOC 2 0 4 0 0 6
NOTCH3 1 1 3 1 0 6
RAD51C 1 0 4 1 0 6
SCN5A 2 3 1 0 0 6
TSC2 4 1 1 0 0 6
ANKRD26 0 2 1 1 1 5
ATM 3 2 0 0 0 5
COL4A5 3 2 0 0 0 5
DNAH9 1 1 3 0 0 5
F7 0 3 1 1 0 5
FLCN 4 0 0 1 0 5
FOXC1, LOC129995601 2 1 2 0 0 5
HNF1A 2 3 0 0 0 5
HYDIN 0 0 4 1 0 5
KCNQ1 3 0 2 0 0 5
PAH 5 0 0 0 0 5
TTN 0 5 0 0 0 5
ADGRV1 0 1 3 0 0 4
AGL 3 0 1 0 0 4
ALPL 3 1 0 0 0 4
APOB 1 0 2 0 1 4
BAP1 3 1 0 0 0 4
BEST1 0 3 1 0 0 4
CACNA1A 1 1 2 0 0 4
CCDC40 1 2 1 0 0 4
CHD7 3 1 0 0 0 4
CHST6 3 1 0 0 0 4
COL1A1 2 2 0 0 0 4
CREBBP 1 1 2 0 0 4
F11 0 4 0 0 0 4
FLNC 1 0 3 0 0 4
GRIN2B 1 3 0 0 0 4
HNF4A 0 3 1 0 0 4
LOC107303340, VHL 2 1 1 0 0 4
MUTYH 2 1 1 0 0 4
NIPBL 2 1 1 0 0 4
PKD1 1 1 2 0 0 4
PRKN 2 0 2 0 0 4
RAD51D, RAD51L3-RFFL 0 0 4 0 0 4
RP1 2 0 2 0 0 4
RPE65 2 1 1 0 0 4
SDHB 2 2 0 0 0 4
SERPINC1 2 1 1 0 0 4
SH3TC2 2 1 1 0 0 4
TG 1 2 1 0 0 4
TSHR 2 1 0 1 0 4
ABCA3 0 0 2 1 0 3
ABCC8 2 0 1 0 0 3
ACADVL 1 2 0 0 0 3
ADAMTSL4 2 1 0 0 0 3
AIRE 3 0 0 0 0 3
ATP7B 0 2 1 0 0 3
CACNA1F 0 1 2 0 0 3
CBS 2 0 1 0 0 3
CDAN1 1 1 1 0 0 3
COL11A1 0 2 1 0 0 3
COL4A3, MFF-DT 0 1 2 0 0 3
CSRP3 0 0 3 0 0 3
CYLD 2 1 0 0 0 3
CYP1B1 2 0 1 0 0 3
DICER1 3 0 0 0 0 3
DNAAF5 0 1 2 0 0 3
DNAH8 0 0 3 0 0 3
DRC4 0 0 1 1 1 3
DYSF 1 1 0 1 0 3
EARS2 1 1 1 0 0 3
EFTUD2 1 2 0 0 0 3
ELANE 0 1 1 1 0 3
ENG 2 1 0 0 0 3
EYS 0 3 0 0 0 3
FGFR3 3 0 0 0 0 3
FGG 1 2 0 0 0 3
GALT 3 0 0 0 0 3
GFI1B 0 1 2 0 0 3
GJB1 3 0 0 0 0 3
HBA2, LOC106804612 2 1 0 0 0 3
HPS6 0 0 3 0 0 3
ITGA2B 1 0 2 0 0 3
KDM5C 0 2 1 0 0 3
KRIT1 3 0 0 0 0 3
LAMA2 3 0 0 0 0 3
LOC126862264, MEFV 1 0 2 0 0 3
LRBA 0 0 2 1 0 3
MEN1 0 2 1 0 0 3
NEB 2 0 1 0 0 3
NFKB1 0 2 1 0 0 3
NLRP12 0 1 1 1 0 3
PKHD1 0 0 3 0 0 3
POLR3B 1 1 1 0 0 3
PROS1 0 2 1 0 0 3
RAPSN 1 1 1 0 0 3
SALL1 1 0 1 0 1 3
SDHA 1 0 2 0 0 3
SDHD 3 0 0 0 0 3
SMARCA4 1 1 1 0 0 3
SMARCE1 1 2 0 0 0 3
SPAST 1 1 1 0 0 3
SPG7 2 0 1 0 0 3
TERT 0 2 1 0 0 3
TGFB3 0 0 3 0 0 3
TPM1 1 0 2 0 0 3
TRIO 0 1 2 0 0 3
TYR 1 2 0 0 0 3
VHL 1 1 1 0 0 3
VPS13B 2 0 0 1 0 3
ZEB1 0 3 0 0 0 3
ABCB11 1 0 1 0 0 2
ABCB4 1 1 0 0 0 2
ABCC2 0 1 1 0 0 2
ABCC9, KCNJ8 0 1 1 0 0 2
ABCG8 0 2 0 0 0 2
ACADM 1 0 1 0 0 2
ACADS 0 0 2 0 0 2
ACAN 1 0 1 0 0 2
ACBD5, MASTL 0 0 1 1 0 2
ACTC1, GJD2-DT 0 0 2 0 0 2
ADAMTS13 1 0 1 0 0 2
ANO10 2 0 0 0 0 2
AP2S1 2 0 0 0 0 2
APC 1 0 1 0 0 2
AR 1 1 0 0 0 2
ARCN1 2 0 0 0 0 2
ARHGEF18 0 0 2 0 0 2
ARID1B 2 0 0 0 0 2
ASCC3 0 1 1 0 0 2
ASS1 2 0 0 0 0 2
ATAD3A 0 0 2 0 0 2
ATP8B1 2 0 0 0 0 2
ATRX 0 0 2 0 0 2
BCORL1 0 0 2 0 0 2
BMPR1A 0 1 1 0 0 2
BRPF1 1 1 0 0 0 2
BTD 2 0 0 0 0 2
CACNA1G 1 0 1 0 0 2
CATIP, PNKD 0 0 2 0 0 2
CDC73 0 0 1 1 0 2
CDH1 0 2 0 0 0 2
CDK13 1 1 0 0 0 2
CEBPA 1 1 0 0 0 2
CHD3 0 2 0 0 0 2
COL4A1 0 1 0 1 0 2
COL4A4 1 0 1 0 0 2
COL5A1 1 0 1 0 0 2
COL5A2 0 0 2 0 0 2
COL6A2 0 0 2 0 0 2
COL6A3 0 0 2 0 0 2
COL9A1 0 1 1 0 0 2
CPT1A 0 0 1 1 0 2
CRYBA1 1 1 0 0 0 2
CYB5R3 0 2 0 0 0 2
DDX3X 1 1 0 0 0 2
DEPDC5 2 0 0 0 0 2
DHCR7 2 0 0 0 0 2
DNAH1 0 0 2 0 0 2
DSP 1 0 1 0 0 2
DYNC1H1 0 0 2 0 0 2
DYNC2H1 0 2 0 0 0 2
ERCC2 0 2 0 0 0 2
EYA1 1 1 0 0 0 2
FANCI 0 0 2 0 0 2
FBN2 0 1 1 0 0 2
FGA 1 1 0 0 0 2
FH 1 1 0 0 0 2
FLNA 0 2 0 0 0 2
FLNA, LOC107988032 0 0 2 0 0 2
FOXJ1 0 0 1 1 0 2
FOXP1 1 1 0 0 0 2
G6PD 1 1 0 0 0 2
GAA 1 1 0 0 0 2
GALNS 1 1 0 0 0 2
GBA1, LOC106627981 2 0 0 0 0 2
GH-LCR, SCN4A 0 1 1 0 0 2
GJB2 2 0 0 0 0 2
GLDC 1 0 1 0 0 2
GLUD1 0 0 2 0 0 2
GP1BA, LOC130060044 0 0 2 0 0 2
GP1BB, SEPT5-GP1BB 0 1 1 0 0 2
GP9 1 0 1 0 0 2
GRIA3 0 0 2 0 0 2
GRIN1 0 1 1 0 0 2
GSN 1 0 1 0 0 2
GUCY2D 0 1 1 0 0 2
HBB, LOC107133510, LOC110006319 1 1 0 0 0 2
HERC2 0 0 2 0 0 2
HMGCL 1 1 0 0 0 2
HSALR1, PIEZO1 0 1 0 1 0 2
HUWE1 0 0 2 0 0 2
IFIH1 0 0 0 2 0 2
IGSF1 0 0 1 1 0 2
INSR 0 0 1 1 0 2
IRF6 0 1 1 0 0 2
KAT6A 2 0 0 0 0 2
KCNJ1 0 1 1 0 0 2
KIF1A 0 0 2 0 0 2
KMT2A 1 1 0 0 0 2
KRT12 0 0 2 0 0 2
LMNA 0 2 0 0 0 2
LMX1B 2 0 0 0 0 2
LOC126859807, TNFAIP3 0 0 1 1 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 2
LOC126861898, MYH7 0 2 0 0 0 2
LPL 1 1 0 0 0 2
MAFA 0 0 2 0 0 2
MCCC1 0 1 1 0 0 2
MCCC2 0 1 1 0 0 2
MECP2 2 0 0 0 0 2
MED12L 0 1 1 0 0 2
MED13 1 0 1 0 0 2
MTOR 0 1 1 0 0 2
MYH3 1 0 1 0 0 2
NAA15 1 1 0 0 0 2
NOTCH1 0 0 2 0 0 2
NR2E3 0 2 0 0 0 2
NRXN1 1 0 1 0 0 2
NSD1 0 1 1 0 0 2
ODAD2 0 0 2 0 0 2
OPA1 0 1 1 0 0 2
PADI3 2 0 0 0 0 2
PARN 0 0 2 0 0 2
PDE6B 0 1 1 0 0 2
PHEX, PTCHD1 1 1 0 0 0 2
PI4KA 0 0 2 0 0 2
PIK3CD 0 0 1 1 0 2
PIKFYVE 2 0 0 0 0 2
PKLR 0 2 0 0 0 2
PKP2 2 0 0 0 0 2
POLE 0 0 1 1 0 2
PROC 0 2 0 0 0 2
PROM1 2 0 0 0 0 2
PTS 1 1 0 0 0 2
RAB23 1 1 0 0 0 2
RPGR 1 1 0 0 0 2
RUNX2 2 0 0 0 0 2
SAMD9 0 1 1 0 0 2
SBDS 2 0 0 0 0 2
SCN3A 0 0 2 0 0 2
SERPINA1 1 1 0 0 0 2
SGSH 0 2 0 0 0 2
SI 0 1 1 0 0 2
SLC12A3 2 0 0 0 0 2
SLC26A3 2 0 0 0 0 2
SLC26A4 2 0 0 0 0 2
SORD 1 0 1 0 0 2
SOS1 1 0 1 0 0 2
SPINK5 0 0 2 0 0 2
SRCAP 1 1 0 0 0 2
STXBP2 0 1 1 0 0 2
SVIL 0 0 2 0 0 2
SYNE1 0 2 0 0 0 2
TGM1 0 2 0 0 0 2
TMPRSS3 2 0 0 0 0 2
TNFAIP3 0 0 0 2 0 2
TNFRSF1A 1 0 0 0 1 2
TPI1 1 1 0 0 0 2
TPO 0 1 1 0 0 2
TRAF7 0 2 0 0 0 2
TRPM1 0 0 2 0 0 2
TRPS1 2 0 0 0 0 2
TUBB1 1 0 1 0 0 2
TUBB4A 2 0 0 0 0 2
UNC13D 0 0 2 0 0 2
USH1C 1 1 0 0 0 2
VPS13D 1 1 0 0 0 2
WDR81 0 1 1 0 0 2
WFS1 0 0 1 1 0 2
WT1 2 0 0 0 0 2
ZMYM2 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
ABCD1 0 0 1 0 0 1
ABCD4 0 0 1 0 0 1
ABCG5 0 0 1 0 0 1
ABCG5, DYNC2LI1 1 0 0 0 0 1
ABHD5 1 0 0 0 0 1
ABL1 0 1 0 0 0 1
ACAD9 1 0 0 0 0 1
ACADSB 0 1 0 0 0 1
ACADVL, DVL2 0 1 0 0 0 1
ACSF3, LOC125177393 1 0 0 0 0 1
ACTG2 0 1 0 0 0 1
ADA2 0 0 0 1 0 1
ADCY5 0 0 1 0 0 1
ADGRL1 0 0 1 0 0 1
ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AIMP1, ARHGEF38, ARHGEF38-DT, ARHGEF38-IT1, BANK1, BDH2, C4orf17, C4orf54, CASP6, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CYP2U1, DAPP1, DDIT4L, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, GAR1, GAR1-DT, GIMD1, GSTCD, H2AZ1, H2AZ1-DT, HADH, INTS12, LAMTOR3, LEF1, LINC01216, LINC01217, LINC01218, LINC02173, LINC02428, LINC02503, LOC100507053, LOC101929577, LOC101929621, LOC102723704, LOC110120634, LOC110120975, LOC110121138, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC112935970, LOC112935971, LOC112935972, LOC116158504, LOC116158505, LOC116158506, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121725179, LOC121725180, LOC121725181, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC126807125, LOC126807126, LOC126807127, LOC126807128, LOC126807129, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC129389230, LOC129389231, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC129992873, LOC129992874, LOC129992875, LOC129992876, LOC129992877, LOC129992878, LOC129992879, LOC129992880, LOC129992881, LOC129992882, LOC129992883, LOC129992884, LOC129992885, LOC129992886, LOC129992887, LOC129992888, LOC129992889, LOC129992890, LOC129992891, LOC129992892, LOC129992893, LOC129992894, LOC129992895, LOC129992896, LOC129992897, LOC129992898, LOC129992899, LOC129992900, LOC129992901, LOC129992902, LOC129992903, LOC129992904, LOC129992905, LOC129992906, LOC129992907, LOC129992908, LOC129992909, LOC129992910, LOC129992911, LOC129992912, LOC129992913, LOC129992914, LOC129992915, LOC129992916, LOC129992917, LOC129992918, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC129992963, LOC129992964, LOC129992965, LOC129992966, LOC132088988, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132088998, LOC132088999, LOC132090708, LOC132090709, LRIT3, MANBA, MCUB, METAP1, MIR1255A, MIR3684, MIR576, MIR8066, MTTP, NFKB1, NPNT, OSTC, PANCR, PAPSS1, PITX2, PLA2G12A, PPA2, PPP3CA, PPP3CA-DT, RAP1GDS1, RPL34, RPL34-DT, RRH, SEC24B, SGMS2, SLC39A8, SLC9B1, SLC9B2, SNORA101A, STPG2, TACR3, TBCK, TET2, TRMT10A, TSPAN5, TSPAN5-DT, UBE2D3 0 0 1 0 0 1
AFF4 0 1 0 0 0 1
AFG3L2 0 0 1 0 0 1
AGO2 0 1 0 0 0 1
AGR2 0 1 0 0 0 1
AGRN 0 0 1 0 0 1
AHDC1 0 0 1 0 0 1
AHI1 0 1 0 0 0 1
AIPL1 1 0 0 0 0 1
AKT2 0 0 0 1 0 1
ALAS2, LOC108663984 0 0 1 0 0 1
ANK1 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 1
ANKRD17 0 1 0 0 0 1
ANKRD26, LOC130003554 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
ANTXR1 0 1 0 0 0 1
AP3B1 0 0 1 0 0 1
AP4S1 0 1 0 0 0 1
ARID1A 0 0 1 0 0 1
ARL6 0 0 1 0 0 1
ARMC5 1 0 0 0 0 1
ARMC5, LOC130058906 1 0 0 0 0 1
ARSL 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASPM 1 0 0 0 0 1
ATP1A3 1 0 0 0 0 1
ATP6AP2 0 1 0 0 0 1
AXDND1, NPHS2 0 1 0 0 0 1
B3GLCT 1 0 0 0 0 1
BBS1, ZDHHC24 0 1 0 0 0 1
BBS2 1 0 0 0 0 1
BCL11A 1 0 0 0 0 1
BEST1, FTH1 0 1 0 0 0 1
BLK 0 0 1 0 0 1
BMPR2 1 0 0 0 0 1
BRD4 0 0 1 0 0 1
C17orf107, CHRNE 1 0 0 0 0 1
C3 1 0 0 0 0 1
C6 0 0 1 0 0 1
CACNA1F, LOC126863257 0 0 1 0 0 1
CACNA1I 0 0 1 0 0 1
CACNA1S 0 0 1 0 0 1
CARD14 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CCDC39 0 0 1 0 0 1
CCNO, LOC129993895 0 0 1 0 0 1
CD19 0 0 1 0 0 1
CD36 1 0 0 0 0 1
CD46 0 0 1 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 1
CDH2 0 0 1 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CDKN2A 1 0 0 0 0 1
CDON 0 0 1 0 0 1
CEP290 1 0 0 0 0 1
CFH 0 0 1 0 0 1
CFHR5 0 0 1 0 0 1
CFTR, LOC111674472 0 1 0 0 0 1
CFTR, LOC111674477 0 0 1 0 0 1
CHAT 0 1 0 0 0 1
CHD1 0 0 1 0 0 1
CHD4 0 1 0 0 0 1
CHD7, LOC126860403 1 0 0 0 0 1
CHD8 1 0 0 0 0 1
CHRNE, LOC130060041 1 0 0 0 0 1
CIZ1 0 0 1 0 0 1
CIZ1, DNM1 0 1 0 0 0 1
CKAP2L 1 0 0 0 0 1
CLCN1 0 0 1 0 0 1
CLCN4 0 0 1 0 0 1
CLRN1 0 1 0 0 0 1
CLTC, LOC126862609 0 1 0 0 0 1
COL12A1 0 0 1 0 0 1
COL17A1 1 0 0 0 0 1
COL1A2 0 0 1 0 0 1
COL4A2 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COPA 0 0 1 0 0 1
COQ8A 0 1 0 0 0 1
CPOX 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
CRX 0 1 0 0 0 1
CRYAA 1 0 0 0 0 1
CRYAB 0 0 1 0 0 1
CRYBA4, CRYBB1 0 0 1 0 0 1
CRYBB2 0 1 0 0 0 1
CSF1R 0 0 1 0 0 1
CSNK2A1 1 0 0 0 0 1
CTNNB1, LOC126806658 0 1 0 0 0 1
CYP1B1, LOC110599580, LOC128772254, LOC129933516, RMDN2 1 0 0 0 0 1
CYP4V2 1 0 0 0 0 1
DCTN1 0 0 0 1 0 1
DDC 1 0 0 0 0 1
DDX41 1 0 0 0 0 1
DEAF1 1 0 0 0 0 1
DGAT1 0 1 0 0 0 1
DKC1 0 0 1 0 0 1
DLG4 0 1 0 0 0 1
DLL1 0 0 1 0 0 1
DMD 1 0 0 0 0 1
DMXL2 0 0 1 0 0 1
DNA2 0 0 1 0 0 1
DNAAF19 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 0 0 1 0 0 1
DNAI2 0 0 0 1 0 1
DNAJB13 0 0 1 0 0 1
DNAJC21 0 0 1 0 0 1
DNAJC3 0 1 0 0 0 1
DNASE1, TRAP1 0 0 1 0 0 1
DNM1, LOC113839516 0 0 1 0 0 1
DOCK4 0 0 1 0 0 1
DOCK8 0 1 0 0 0 1
DPF2 0 0 1 0 0 1
DSG2 1 0 0 0 0 1
DTNBP1 0 1 0 0 0 1
ECEL1 1 0 0 0 0 1
EDA 1 0 0 0 0 1
EDN3 0 0 1 0 0 1
EHHADH 0 0 0 1 0 1
EHMT1 1 0 0 0 0 1
EIF2B4, GTF3C2 0 0 1 0 0 1
EIF2B5 1 0 0 0 0 1
ELF4 0 0 1 0 0 1
ENPEP, PITX2 1 0 0 0 0 1
EP300, LOC126863158 0 0 1 0 0 1
EPHB4, LOC126860124 0 1 0 0 0 1
EPM2A, EPM2A-DT, LOC129997381 1 0 0 0 0 1
ETV6 0 1 0 0 0 1
EXOSC3 0 0 1 0 0 1
EXOSC3, LOC130001814 0 0 1 0 0 1
EXPH5 1 0 0 0 0 1
EXT1 0 1 0 0 0 1
EXT2 1 0 0 0 0 1
EZH2 0 1 0 0 0 1
F5 0 1 0 0 0 1
FAM161A 1 0 0 0 0 1
FANCA 1 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 1
FANCG 0 0 1 0 0 1
FANCM 0 0 1 0 0 1
FAT4 0 0 0 1 0 1
FBN1, LOC113939944 1 0 0 0 0 1
FBXO11 0 0 1 0 0 1
FECH 1 0 0 0 0 1
FERMT3 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FGFR1 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FIG4 0 0 1 0 0 1
FKRP 0 1 0 0 0 1
FLNB 1 0 0 0 0 1
FMR1 0 0 1 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 1
FTL, LOC130064892 0 1 0 0 0 1
FZD4, PRSS23 0 0 1 0 0 1
G6PC1 1 0 0 0 0 1
GABRG2 1 0 0 0 0 1
GANAB 0 1 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GAS2L2 0 0 1 0 0 1
GATA1 0 0 1 0 0 1
GATA2 0 1 0 0 0 1
GBE1 0 1 0 0 0 1
GCDH 0 1 0 0 0 1
GCM2 0 0 1 0 0 1
GDAP1 1 0 0 0 0 1
GFAP 1 0 0 0 0 1
GJA3 1 0 0 0 0 1
GJB6 1 0 0 0 0 1
GLRA1 1 0 0 0 0 1
GNAO1 1 0 0 0 0 1
GNAS 0 1 0 0 0 1
GNE 0 1 0 0 0 1
GP1BA 0 1 0 0 0 1
GPC3 0 1 0 0 0 1
GRIA2 1 0 0 0 0 1
GRIA4 0 0 1 0 0 1
GRM1 0 0 1 0 0 1
GTPBP3 0 1 0 0 0 1
GUCY2C 0 0 0 1 0 1
HADHB 0 1 0 0 0 1
HAX1 0 0 1 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBA1, LOC106804613 1 0 0 0 0 1
HFE 1 0 0 0 0 1
HGSNAT 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 1
HNF1B 1 0 0 0 0 1
HNF1B, LOC126862549 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPU 1 0 0 0 0 1
HOXB13 1 0 0 0 0 1
HPS1 1 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSF4 0 0 1 0 0 1
IDH3A 0 0 1 0 0 1
IGF1R, IRAIN 0 1 0 0 0 1
IKBKB 0 0 1 0 0 1
IMPG1 0 0 1 0 0 1
ITGB3 0 0 1 0 0 1
ITPR1 0 1 0 0 0 1
JAG2 0 0 1 0 0 1
JAGN1 0 0 0 0 1 1
JMJD8, STUB1 0 1 0 0 0 1
KAT6B 1 0 0 0 0 1
KCNA1 1 0 0 0 0 1
KCNA2 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNE1 0 0 1 0 0 1
KCNH2 1 0 0 0 0 1
KCNJ11 0 0 1 0 0 1
KCNT2 0 0 1 0 0 1
KCTD3 0 0 1 0 0 1
KDM5B 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
KDM6B 1 0 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIF11 1 0 0 0 0 1
KIF22 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KLF1 0 1 0 0 0 1
KLHL7 1 0 0 0 0 1
KMT2E 0 0 1 0 0 1
LALTOP, LOC126806104, TPO 0 1 0 0 0 1
LDB3 0 0 1 0 0 1
LEPR 0 0 1 0 0 1
LMBRD2 0 0 1 0 0 1
LMNB1 0 0 1 0 0 1
LMX1A 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 0 1 0 1
LOC107982234, WT1 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126806373, NEB 0 0 1 0 0 1
LOC126806430, TTN 0 0 1 0 0 1
LOC126859837, SYNE1 0 1 0 0 0 1
LOC126860802, ZMYND11 0 0 1 0 0 1
LOC126861615, PAH 1 0 0 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 1
LOC129930446, MMACHC 1 0 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129992625, SRP72 0 0 1 0 0 1
LOC130004144, RPS24 0 0 1 0 0 1
LOC130004614, SUFU 1 0 0 0 0 1
LOC130009266, POLE 0 0 0 1 0 1
LOC130062628, TNFRSF11A 0 1 0 0 0 1
LOC130067574, TNFRSF13C 0 0 0 1 0 1
LPIN1 0 0 1 0 0 1
LPIN2 0 0 0 1 0 1
LRP5 0 0 1 0 0 1
LRRC56 0 0 1 0 0 1
LRRK2 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MAGEL2 0 0 1 0 0 1
MAP2K2 0 1 0 0 0 1
MAPT 1 0 0 0 0 1
MAT1A 0 0 1 0 0 1
MATN3 1 0 0 0 0 1
MCIDAS 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MED13L 0 0 1 0 0 1
MEFV 0 0 1 0 0 1
MERTK 0 0 1 0 0 1
MET 0 0 0 0 1 1
MFN2 1 0 0 0 0 1
MHRT, MYH7 0 0 1 0 0 1
MMACHC 0 1 0 0 0 1
MMADHC 1 0 0 0 0 1
MPL 0 0 1 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 1
MTSS2 0 1 0 0 0 1
MUSK 0 1 0 0 0 1
MVK 0 0 1 0 0 1
MYH2, MYHAS 0 1 0 0 0 1
MYL3 0 1 0 0 0 1
MYLK 0 0 1 0 0 1
MYO7A 1 0 0 0 0 1
MYRF 1 0 0 0 0 1
MYT1L 0 1 0 0 0 1
NAGA 0 1 0 0 0 1
NALCN 0 0 1 0 0 1
NBAS 0 1 0 0 0 1
NBEAL2 0 1 0 0 0 1
NCF2 0 0 1 0 0 1
NCKAP1 0 0 1 0 0 1
NCR1, NLRP7 1 0 0 0 0 1
NEB, RIF1 1 0 0 0 0 1
NEFL 1 0 0 0 0 1
NEXN 0 0 1 0 0 1
NFIX 1 0 0 0 0 1
NLRP3 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
NPHP4 0 0 1 0 0 1
NPHS2 0 1 0 0 0 1
NPRL2 0 0 1 0 0 1
NR5A1 0 1 0 0 0 1
NSDHL 1 0 0 0 0 1
NTHL1 0 1 0 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
OAS1 0 0 0 1 0 1
ODAD1 0 1 0 0 0 1
ODAD3 0 0 0 1 0 1
OPHN1 0 1 0 0 0 1
OPN1LW 1 0 0 0 0 1
OTC 0 1 0 0 0 1
PACS2 1 0 0 0 0 1
PARK7 1 0 0 0 0 1
PAX8 0 0 1 0 0 1
PBX1 1 0 0 0 0 1
PCARE 0 0 1 0 0 1
PDHA1 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PHYH 0 1 0 0 0 1
PIEZO1 0 0 0 1 0 1
PIEZO2 0 0 1 0 0 1
PIGB 1 0 0 0 0 1
PIK3CA 0 1 0 0 0 1
PINK1 1 0 0 0 0 1
PITPNM3 0 0 1 0 0 1
PLCB2 0 0 1 0 0 1
PLCG2 0 0 0 1 0 1
PLEKHG2 0 1 0 0 0 1
PMM2 1 0 0 0 0 1
PMP22 1 0 0 0 0 1
PNKP 0 1 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 1
POLA1 0 0 1 0 0 1
POLD1 0 0 1 0 0 1
POLRMT 0 0 1 0 0 1
PPARG 0 0 1 0 0 1
PPOX 0 0 0 0 1 1
PRDM16 0 0 1 0 0 1
PRF1 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRKD1 0 0 1 0 0 1
PRPF31 0 0 1 0 0 1
PRPF8 0 0 1 0 0 1
PRPH2 1 0 0 0 0 1
PSEN1 0 1 0 0 0 1
PSTPIP1 0 0 0 1 0 1
PTCH1 1 0 0 0 0 1
PTCHD1 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PUM1 1 0 0 0 0 1
PYGM 1 0 0 0 0 1
RAD21 0 1 0 0 0 1
RAF1 1 0 0 0 0 1
RAI1 0 0 0 1 0 1
RARS1 0 1 0 0 0 1
RASGRP2 0 0 1 0 0 1
RBM20 1 0 0 0 0 1
RERE 0 0 1 0 0 1
RHO 0 1 0 0 0 1
RIT1 1 0 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RORA 0 0 1 0 0 1
RP2 1 0 0 0 0 1
RPL5 0 1 0 0 0 1
RSPH1 0 0 1 0 0 1
RSPH4A 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
SARDH 0 0 1 0 0 1
SCN2A 1 0 0 0 0 1
SCNN1A 0 0 1 0 0 1
SCNN1B 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SEMA5A 0 0 1 0 0 1
SERPINB7 1 0 0 0 0 1
SETD1B 0 0 0 1 0 1
SETD5 0 0 1 0 0 1
SETX 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SH2B3 0 0 0 1 0 1
SHANK2 1 0 0 0 0 1
SHH 0 1 0 0 0 1
SHOX 0 0 1 0 0 1
SHROOM4 0 0 1 0 0 1
SLC20A2 0 1 0 0 0 1
SLC22A5 0 1 0 0 0 1
SLC25A20 1 0 0 0 0 1
SLC26A2 0 1 0 0 0 1
SLC4A11 0 0 1 0 0 1
SLC52A1 0 0 1 0 0 1
SLC52A3 0 0 1 0 0 1
SLC5A6 0 1 0 0 0 1
SLC6A8 1 0 0 0 0 1
SLC7A9 0 1 0 0 0 1
SLC9A7 0 0 1 0 0 1
SLFN14 0 0 1 0 0 1
SLX4 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SMARCAL1 0 1 0 0 0 1
SMARCB1 1 0 0 0 0 1
SMC1A 0 0 1 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX4 0 0 1 0 0 1
SOX9 1 0 0 0 0 1
SPATA7 1 0 0 0 0 1
SPG11 1 0 0 0 0 1
SRP54 1 0 0 0 0 1
SRPK3 0 1 0 0 0 1
STAG1 0 0 1 0 0 1
STAG2 0 0 1 0 0 1
STS 0 1 0 0 0 1
STUB1 0 1 0 0 0 1
STXBP1 1 0 0 0 0 1
SURF1 1 0 0 0 0 1
SYNE2 0 0 1 0 0 1
SYT2 0 1 0 0 0 1
TAF1 0 0 1 0 0 1
TARS2 0 1 0 0 0 1
TBK1 0 1 0 0 0 1
TBL1X 0 0 1 0 0 1
TBX22 0 0 1 0 0 1
TBX5 0 0 1 0 0 1
TCF20 1 0 0 0 0 1
TCF4 1 0 0 0 0 1
TCOF1 0 0 1 0 0 1
TFAP2A 1 0 0 0 0 1
TGFB2 0 0 1 0 0 1
THOC2 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TJP2 0 0 1 0 0 1
TMEM240 1 0 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TNNC1 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1
TP73 0 0 1 0 0 1
TRPV4 1 0 0 0 0 1
TRRAP 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TSPAN12 1 0 0 0 0 1
TTBK2 0 0 1 0 0 1
TTR 1 0 0 0 0 1
TUBB 1 0 0 0 0 1
TWIST1 0 1 0 0 0 1
UBIAD1 0 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 0 1
UIMC1 0 0 1 0 0 1
UROD 0 1 0 0 0 1
USP9X 0 0 1 0 0 1
VPS13A 0 1 0 0 0 1
VPS45 0 0 0 1 0 1
WAC 1 0 0 0 0 1
WDR26 1 0 0 0 0 1
WDR45 1 0 0 0 0 1
WDR72 0 1 0 0 0 1
WDR73 0 1 0 0 0 1
WIPF1 0 0 1 0 0 1
WNT10A 0 1 0 0 0 1
WNT10B 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZFAT 0 0 1 0 0 1
ZFHX4 0 0 1 0 0 1
ZFYVE26 0 1 0 0 0 1
ZNF292 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 854
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 31 12 31 6 4 84
Breast-ovarian cancer, familial, susceptibility to, 2 19 5 15 7 6 52
Hereditary factor VIII deficiency disease 16 24 11 1 0 52
von Willebrand disease type 2 11 7 12 0 0 30
Breast-ovarian cancer, familial, susceptibility to, 1 19 2 2 1 5 29
Lynch syndrome 5 12 3 2 0 1 18
Axenfeld-Rieger syndrome type 3 13 1 3 0 0 17
Retinoblastoma 12 2 2 0 0 16
Lynch syndrome 1 10 2 2 1 0 15
Neurofibromatosis, type 1 10 2 2 0 0 14
Primary ciliary dyskinesia 7 0 3 9 2 0 14
Hypercholesterolemia, familial, 1 7 5 1 0 0 13
Neurofibromatosis, type 2 9 0 3 0 0 12
Maturity-onset diabetes of the young type 2 4 4 3 0 0 11
Primary ciliary dyskinesia 3 1 1 9 0 0 11
Axenfeld-Rieger syndrome type 1 7 0 3 0 0 10
Hypertrophic cardiomyopathy 5 1 4 0 0 10
Hypertrophic cardiomyopathy 1 1 4 5 0 0 10
LZTR1-related schwannomatosis 3 4 3 0 0 10
Lynch syndrome 5 5 0 0 0 10
Thyroid dyshormonogenesis 6 3 4 3 0 0 10
Aniridia 1 9 0 0 0 0 9
Beta-thalassemia HBB/LCRB 7 2 0 0 0 9
Noonan syndrome 1 9 0 0 0 0 9
Primary dilated cardiomyopathy 4 1 4 0 0 9
Cystic fibrosis 2 1 4 1 0 8
Hypertrophic cardiomyopathy 4 5 2 1 0 0 8
Marfan syndrome 2 3 3 0 0 8
Hereditary von Willebrand disease 1 0 6 0 0 7
Multiple endocrine neoplasia type 2A 0 0 2 0 5 7
Thrombocytopenia 2 0 2 2 2 1 7
Usher syndrome type 2A 5 1 1 0 0 7
Von Hippel-Lindau syndrome 3 2 2 0 0 7
Colorectal cancer, hereditary nonpolyposis, type 2 4 1 1 0 0 6
Cone-rod dystrophy 3 2 1 3 0 0 6
Glaucoma 1, open angle, A 2 0 4 0 0 6
Hereditary factor IX deficiency disease 2 4 0 0 0 6
KBG syndrome 2 2 1 1 0 6
Kabuki syndrome 1 3 0 3 0 0 6
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 3 2 1 0 0 6
Phenylketonuria 6 0 0 0 0 6
Retinal dystrophy 6 0 0 0 0 6
Retinitis pigmentosa 39 4 2 0 0 0 6
Telangiectasia, hereditary hemorrhagic, type 2 1 4 1 0 0 6
Tuberous sclerosis 2 4 1 1 0 0 6
Ataxia-telangiectasia syndrome 5 0 0 0 0 5
Autosomal dominant hypocalcemia 1 1 2 2 0 0 5
Bethlem myopathy 1A 0 0 5 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 3 1 0 3 1 0 5
CHARGE syndrome 4 1 0 0 0 5
Ciliary dyskinesia, primary, 40 1 1 3 0 0 5
Congenital factor VII deficiency 0 3 1 1 0 5
Ehlers-Danlos syndrome, type 4 1 0 4 0 0 5
Familial dysfibrinogenemia 2 2 1 0 0 5
Malignant hyperthermia, susceptibility to, 1 2 0 3 0 0 5
Multiple endocrine neoplasia, type 2 0 0 1 0 4 5
Nemaline myopathy 2 3 0 2 0 0 5
Primary ciliary dyskinesia 5 0 0 4 1 0 5
X-linked Alport syndrome 3 2 0 0 0 5
alpha Thalassemia 4 1 0 0 0 5
von Willebrand disease type 1 1 1 2 0 1 5
Autosomal recessive juvenile Parkinson disease 2 2 0 2 0 0 4
Bernard Soulier syndrome 1 1 2 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 4 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 2 0 0 4
Charcot-Marie-Tooth disease type 4C 2 1 1 0 0 4
Congenital stationary night blindness 2A 0 1 3 0 0 4
Cornelia de Lange syndrome 1 2 1 1 0 0 4
Dilated cardiomyopathy 1G 0 3 1 0 0 4
Epithelial-stromal TGFBI dystrophy 2 2 0 0 0 4
Familial medullary thyroid carcinoma 2 0 2 0 0 4
Glycogen storage disease type III 3 0 1 0 0 4
Hereditary antithrombin deficiency 2 1 1 0 0 4
Hereditary factor XI deficiency disease 0 4 0 0 0 4
Hereditary retinoblastoma 3 1 0 0 0 4
Hypercholesterolemia, autosomal dominant, type B 1 0 2 0 1 4
Hypophosphatasia 3 1 0 0 0 4
Hypothyroidism due to TSH receptor mutations 2 0 1 1 0 4
Iodotyrosyl coupling defect 1 2 1 0 0 4
Lynch syndrome 4 0 1 1 1 1 4
Macular corneal dystrophy 3 1 0 0 0 4
Mucopolysaccharidosis, MPS-III-A 2 2 0 0 0 4
Polycystic kidney disease, adult type 1 1 2 0 0 4
Primary ciliary dyskinesia 0 0 4 0 0 4
Primary ciliary dyskinesia 15 1 2 1 0 0 4
RPE65-related recessive retinopathy 2 1 1 0 0 4
Retinitis pigmentosa 2 1 1 0 0 4
Retinitis pigmentosa 1 2 0 2 0 0 4
Severe early-childhood-onset retinal dystrophy 3 1 0 0 0 4
Usher syndrome type 2C 0 1 3 0 0 4
Very long chain acyl-CoA dehydrogenase deficiency 1 3 0 0 0 4
Acute myeloid leukemia 1 2 0 0 0 3
Alport syndrome 0 1 2 0 0 3
Anemia, congenital dyserythropoietic, type 1a 1 1 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 17 2 1 0 0 0 3
Birt-Hogg-Dube syndrome 3 0 0 0 0 3
Brugada syndrome 3 0 0 3 0 0 3
Central core myopathy 1 1 1 0 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 3 0 0 0 0 3
Classic homocystinuria 2 0 1 0 0 3
Colorectal cancer, susceptibility to, 12 0 0 1 2 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 2 1 0 3
Congenital secretory diarrhea, chloride type 2 0 0 1 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 0 0 0 3
Dyskeratosis congenita, autosomal dominant 2 0 2 1 0 0 3
Ectopia lentis 2, isolated, autosomal recessive 2 1 0 0 0 3
Familial Mediterranean fever 1 0 2 0 0 3
Familial adenomatous polyposis 2 2 0 1 0 0 3
Familial cold autoinflammatory syndrome 2 0 1 1 1 0 3
Familial hypocalciuric hypercalcemia 1 1 1 1 0 0 3
Familial meningioma 1 2 0 0 0 3
Familial thoracic aortic aneurysm and aortic dissection 0 1 2 0 0 3
Glaucoma 3A 2 0 1 0 0 3
Hereditary pheochromocytoma and paraganglioma 2 1 0 0 0 3
Hereditary spastic paraplegia 4 1 1 1 0 0 3
Hereditary spastic paraplegia 7 2 0 1 0 0 3
Hermansky-Pudlak syndrome 6 0 0 3 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 0 0 3
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 1 0 0 3
Immunodeficiency 14 0 0 2 1 0 3
Immunodeficiency 62 0 0 3 0 0 3
Immunodeficiency, common variable, 12 0 2 1 0 0 3
Intellectual disability, autosomal dominant 16 1 1 1 0 0 3
Intellectual disability, autosomal dominant 6 1 2 0 0 0 3
Interstitial lung disease due to ABCA3 deficiency 0 0 2 1 0 3
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 1 1 0 0 3
Long QT syndrome 3 0 0 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 1 2 0 0 0 3
Maturity-onset diabetes of the young type 3 0 3 0 0 0 3
Muir-Torré syndrome 0 1 2 0 0 3
Multiple endocrine neoplasia, type 1 0 2 1 0 0 3
Osteogenesis imperfecta type I 1 2 0 0 0 3
Ovarian neoplasm 0 0 3 0 0 3
Platelet-type bleeding disorder 17 0 1 2 0 0 3
Polycystic kidney disease 4 0 0 3 0 0 3
Polyglandular autoimmune syndrome, type 1 3 0 0 0 0 3
Primary ciliary dyskinesia 18 0 1 2 0 0 3
Primary ciliary dyskinesia 33 0 0 1 1 1 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 1 1 0 0 3
Retinitis pigmentosa 25 0 3 0 0 0 3
SMARCB1-related schwannomatosis 2 0 1 0 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 0 2 1 0 0 3
Thrombocytopenia 0 0 3 0 0 3
Townes-Brocks syndrome 1 1 0 1 0 1 3
Vitelliform macular dystrophy 2 0 3 0 0 0 3
Von Willebrand disease type 2B 0 3 0 0 0 3
Wilson disease 0 2 1 0 0 3
X-linked ichthyosis with steryl-sulfatase deficiency 2 1 0 0 0 3
von Willebrand disease type 3 2 1 0 0 0 3
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 1 1 0 0 2
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1 1 0 0 0 2
A20 haploinsufficiency 0 0 0 2 0 2
ACTH-independent macronodular adrenal hyperplasia 2 2 0 0 0 0 2
Aicardi-Goutieres syndrome 7 0 0 0 2 0 2
Alpha-1-antitrypsin deficiency 1 1 0 0 0 2
Androgen resistance syndrome 1 1 0 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 1 0 0 0 2
Aplastic anemia 1 0 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 1 0 1 0 0 2
Arrhythmogenic right ventricular dysplasia 9 2 0 0 0 0 2
Asphyxiating thoracic dystrophy 3 0 2 0 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 1 1 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2 0 0 0 0 2
Autosomal dominant optic atrophy classic form 0 1 1 0 0 2
Autosomal recessive ataxia, Beauce type 0 2 0 0 0 2
Autosomal recessive bestrophinopathy 0 1 1 0 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 1 0 0 0 2
Autosomal recessive congenital ichthyosis 1 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 2 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 10 2 0 0 0 0 2
BAP1-related tumor predisposition syndrome 2 0 0 0 0 2
Bartter disease type 2 0 1 1 0 0 2
Biotinidase deficiency 2 0 0 0 0 2
Branchiooculofacial syndrome 1 1 0 0 0 2
Brooke-Spiegler syndrome 1 1 0 0 0 2
Cardiac, facial, and digital anomalies with developmental delay 0 2 0 0 0 2
Carnitine palmitoyl transferase 1A deficiency 0 0 1 1 0 2
Cataract 10 multiple types 1 1 0 0 0 2
Cerebral cavernous malformation 2 0 0 0 0 2
Cholestasis 0 0 1 1 0 2
Ciliary dyskinesia, primary, 37 0 0 2 0 0 2
Ciliary dyskinesia, primary, 43 0 0 1 1 0 2
Citrullinemia type I 2 0 0 0 0 2
Cleidocranial dysostosis 2 0 0 0 0 2
Cobalamin C disease 1 1 0 0 0 2
Coffin-Siris syndrome 1 2 0 0 0 0 2
Cohen syndrome 2 0 0 0 0 2
Complex neurodevelopmental disorder 0 0 2 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 0 0 2
Congenital myasthenic syndrome 2 0 0 0 0 2
Congenital myopathy 0 1 1 0 0 2
Congenital stationary night blindness 1C 0 0 2 0 0 2
Corneal dystrophy, Meesmann, 1 0 0 2 0 0 2
Cyclical neutropenia 0 0 1 1 0 2
Deficiency of butyryl-CoA dehydrogenase 0 0 2 0 0 2
Deficiency of cytochrome-b5 reductase 0 2 0 0 0 2
Deficiency of hydroxymethylglutaryl-CoA lyase 1 1 0 0 0 2
Deficiency of iodide peroxidase 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 31A 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 42 0 1 1 0 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 0 2
Dominant beta-thalassemia 1 0 1 0 0 2
Dubin-Johnson syndrome 0 1 1 0 0 2
Early-onset Parkinson disease 20 1 0 1 0 0 2
Ehlers-Danlos syndrome, classic type, 1 1 0 1 0 0 2
Ehlers-Danlos syndrome, classic type, 2 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 1 2 0 0 0 0 2
Epilepsy, familial focal, with variable foci 4 0 0 2 0 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 1 0 0 0 2
Familial adenomatous polyposis 1 1 0 1 0 0 2
Familial adenomatous polyposis 3 1 1 0 0 0 2
Familial hemophagocytic lymphohistiocytosis 3 0 0 2 0 0 2
Familial hemophagocytic lymphohistiocytosis 5 0 1 1 0 0 2
Familial hyperthyroidism due to mutations in TSH receptor 0 1 0 1 0 2
Familial hypocalciuric hypercalcemia 3 2 0 0 0 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 0 0 2
Familial ovarian cancer 0 0 1 1 0 2
Familial spontaneous pneumothorax 1 0 0 1 0 2
Fanconi anemia complementation group A 1 0 1 0 0 2
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 1 1 0 0 2
Fetal akinesia deformation sequence 2 0 1 1 0 0 2
Finnish type amyloidosis 1 0 1 0 0 2
Fleck corneal dystrophy 2 0 0 0 0 2
Glanzmann thrombasthenia 1 1 0 1 0 0 2
Glycine encephalopathy 1 0 1 0 0 2
Glycogen storage disease, type II 1 1 0 0 0 2
Gorlin syndrome 1 0 0 1 0 2
Harel-Yoon syndrome 0 0 2 0 0 2
Hereditary leiomyomatosis and renal cell cancer 1 1 0 0 0 2
Hydrocephalus, congenital, 3, with brain anomalies 0 1 1 0 0 2
Hypercalcemia 0 0 1 1 0 2
Hyperinsulinism due to INSR deficiency 0 0 1 1 0 2
Hyperinsulinism-hyperammonemia syndrome 0 0 2 0 0 2
Hyperlipidemia, familial combined, LPL related 1 1 0 0 0 2
Hypertrophic cardiomyopathy 12 0 0 2 0 0 2
Hypertrophic cardiomyopathy 26 0 0 2 0 0 2
Hypomyelinating leukodystrophy 6 2 0 0 0 0 2
Intellectual developmental disorder 61 1 0 1 0 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 1 1 0 0 0 2
Intellectual disability 0 0 2 0 0 2
Intellectual disability, X-linked 102 1 1 0 0 0 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 0 0 2
Intellectual disability, autosomal dominant 13 0 0 2 0 0 2
Intellectual disability, autosomal dominant 40 0 0 2 0 0 2
Intellectual disability, autosomal dominant 50 1 1 0 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 0 0 2
Jervell and Lange-Nielsen syndrome 1 0 0 2 0 0 2
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0 1 1 0 0 2
Li-Fraumeni syndrome 1 0 1 0 0 1 2
Lymphatic malformation 6 0 1 0 1 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 1 0 0 2
Maturity-onset diabetes of the young type 1 0 2 0 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 1 0 0 2
Menke-Hennekam syndrome 1 0 1 1 0 0 2
Merosin deficient congenital muscular dystrophy 2 0 0 0 0 2
Mitochondrial complex II deficiency, nuclear type 1 0 0 2 0 0 2
Mitochondrial trifunctional protein deficiency 1 1 0 0 0 2
Myofibrillar myopathy 10 0 0 2 0 0 2
Myofibromatosis, infantile, 2 0 0 1 1 0 2
Nail-patella syndrome 2 0 0 0 0 2
Nephrotic syndrome, type 2 0 2 0 0 0 2
Netherton syndrome 0 0 2 0 0 2
Neurodegeneration with brain iron accumulation 5 2 0 0 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 1 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 1 0 0 2
Nizon-Isidor syndrome 0 1 1 0 0 2
Noonan syndrome 4 1 0 1 0 0 2
Oculocutaneous albinism type 1A 1 1 0 0 0 2
Paroxysmal nonkinesigenic dyskinesia 1 0 0 2 0 0 2
Pendred syndrome 2 0 0 0 0 2
Pheochromocytoma/paraganglioma syndrome 1 2 0 0 0 0 2
Pheochromocytoma/paraganglioma syndrome 4 1 1 0 0 0 2
Pitt-Hopkins-like syndrome 2 1 0 1 0 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 2 0 0 2
Pontocerebellar hypoplasia type 1B 0 0 2 0 0 2
Primary ciliary dyskinesia 23 0 0 2 0 0 2
Progressive familial intrahepatic cholestasis 1 0 1 0 0 2
Progressive familial intrahepatic cholestasis type 1 2 0 0 0 0 2
Prostate cancer 1 1 0 0 0 2
Pseudo von Willebrand disease 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 0 2 0 0 2
Pyruvate kinase deficiency of red cells 0 2 0 0 0 2
RAB23-related Carpenter syndrome 1 1 0 0 0 2
Retinitis pigmentosa 40 0 1 1 0 0 2
Retinitis pigmentosa 78 0 0 2 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 1 0 0 2
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 2 0 0 0 0 2
Shukla-Vernon syndrome 0 0 2 0 0 2
Sitosterolemia 1 0 2 0 0 0 2
Sitosterolemia 2 1 0 1 0 0 2
Skeletal dysplasia 1 1 0 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 2
Snijders Blok-Campeau syndrome 0 2 0 0 0 2
Sotos syndrome 0 1 1 0 0 2
Stickler syndrome type 2 0 1 1 0 0 2
Stickler syndrome, type 4 0 1 1 0 0 2
Stickler syndrome, type I, nonsyndromic ocular 1 0 1 0 0 2
Sucrase-isomaltase deficiency 0 1 1 0 0 2
Syndromic X-linked intellectual disability 94 0 0 2 0 0 2
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 1 2
Telangiectasia, hereditary hemorrhagic, type 1 1 1 0 0 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 2 0 0 0 2
Thrombophilia due to protein S deficiency, autosomal dominant 0 2 0 0 0 2
Trichorhinophalangeal dysplasia type I 2 0 0 0 0 2
Triosephosphate isomerase deficiency 1 1 0 0 0 2
Type 1 diabetes mellitus 20 2 0 0 0 0 2
Uncombable hair syndrome 1 2 0 0 0 0 2
Upshaw-Schulman syndrome 1 0 1 0 0 2
Usher syndrome type 1C 1 1 0 0 0 2
Vanishing white matter disease 1 0 1 0 0 2
Variegate porphyria 1 0 0 0 1 2
Wiedemann-Steiner syndrome 1 1 0 0 0 2
Wilms tumor 1 1 1 0 0 0 2
Xeroderma pigmentosum, group D 0 2 0 0 0 2
beta Thalassemia 1 1 0 0 0 2
46,XY sex reversal 3 0 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 1 0 0 1
Achondrogenesis type II 0 1 0 0 0 1
Achondrogenesis, type IB 0 1 0 0 0 1
Acquired hemoglobin H disease 0 0 1 0 0 1
Acyl-CoA dehydrogenase 9 deficiency 1 0 0 0 0 1
Adams-Oliver syndrome 5 0 0 1 0 0 1
Adrenoleukodystrophy 0 0 1 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 0 0 1 0 0 1
Age related macular degeneration 4 0 0 1 0 0 1
Aicardi-Goutieres syndrome 2 0 1 0 0 0 1
Alexander disease 1 0 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 2 0 1 0 0 0 1
Alzheimer disease 3 0 1 0 0 0 1
Amelogenesis imperfecta hypomaturation type 2A3 0 1 0 0 0 1
Amyloidosis 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 11 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 4 0 1 0 0 0 1
Angelman syndrome 1 0 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 0 1
Anterior segment dysgenesis 3 1 0 0 0 0 1
Anterior segment dysgenesis 6 1 0 0 0 0 1
Aortic valve disease 1 0 0 1 0 0 1
Aortic valve disease 2 0 0 1 0 0 1
Ariboflavinosis 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 14 0 0 1 0 0 1
Astrocytoma 0 1 0 0 0 1
Atrioventricular septal defect, susceptibility to, 2 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome 0 1 0 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 1 0 0 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 0 1 0 0 1
Autism 0 0 1 0 0 1
Autism spectrum disorder 0 0 1 0 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 0 1
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 0 0 1
Autoimmune thyroid disease, susceptibility to, 3 0 0 1 0 0 1
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0 0 1 0 0 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 0 1 0 0 1
Autosomal dominant Parkinson disease 8 1 0 0 0 0 1
Autosomal dominant aplasia and myelodysplasia 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 7 0 0 1 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 0 1 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 1 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 7 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy 0 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 0 0 0 1 1
Autosomal recessive spinocerebellar ataxia 16 0 1 0 0 0 1
Avascular necrosis of femoral head, primary, 1 0 1 0 0 0 1
Avellino corneal dystrophy 1 0 0 0 0 1
Bardet-Biedl syndrome 1 0 1 0 0 0 1
Bardet-Biedl syndrome 14 1 0 0 0 0 1
Benign familial hematuria 1 0 0 0 0 1
Bethlem myopathy 0 0 1 0 0 1
Bietti crystalline corneoretinal dystrophy 1 0 0 0 0 1
Bleeding disorder, platelet-type, 24 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Bone marrow failure syndrome 3 0 0 1 0 0 1
Bone osteosarcoma 0 1 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 0 1
Branchiootic syndrome 1 1 0 0 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 0 1
Bronchiectasis with or without elevated sweat chloride 1 0 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 2 0 0 1 0 0 1
Brown-Vialetto-van Laere syndrome 1 0 0 1 0 0 1
Brugada syndrome 0 1 0 0 0 1
Brugada syndrome 1 0 1 0 0 0 1
Brugada syndrome 1; Long QT syndrome 3 0 1 0 0 0 1
Brugada syndrome 1; SUDDEN INFANT DEATH SYNDROME 1 0 0 0 0 1
Brugada syndrome 9 0 0 1 0 0 1
CFHR5 deficiency 0 0 1 0 0 1
CK syndrome 1 0 0 0 0 1
CLOVES syndrome 0 1 0 0 0 1
Camptomelic dysplasia 1 0 0 0 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 0 1
Cardiac-urogenital syndrome 1 0 0 0 0 1
Carnitine acylcarnitine translocase deficiency 1 0 0 0 0 1
Cataract 17 multiple types 0 0 1 0 0 1
Cataract 3 multiple types 0 1 0 0 0 1
Cataract 5 multiple types 0 0 1 0 0 1
Cataract 9 multiple types 1 0 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1F 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 0 0 1 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 0 1
Ciliary dyskinesia, primary, 39 0 0 1 0 0 1
Ciliary dyskinesia, primary, 41 0 0 1 0 0 1
Ciliary dyskinesia, primary, 42 0 0 1 0 0 1
Ciliary dyskinesia, primary, 47, and lissencephaly 0 0 1 0 0 1
Cleft palate with or without ankyloglossia, X-linked 0 0 1 0 0 1
Coffin-Siris syndrome 0 0 1 0 0 1
Coffin-Siris syndrome 10 0 0 1 0 0 1
Coffin-Siris syndrome 7 0 0 1 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 1 0 0 0 1
Colorectal cancer 1 0 0 0 0 1
Colorectal cancer, susceptibility to, 10 0 0 1 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 0 0 0 1
Combined malonic and methylmalonic acidemia 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 21 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 23 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 55 0 0 1 0 0 1
Complement component 6 deficiency 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 6 1 0 0 0 0 1
Cone-rod dystrophy 2 0 1 0 0 0 1
Cone-rod dystrophy 5 0 0 1 0 0 1
Cone-rod dystrophy 6 0 0 1 0 0 1
Congenital amegakaryocytic thrombocytopenia 0 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 0 0 0 0 1
Congenital anomaly of kidney and urinary tract 1 0 0 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 1 0 0 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 0 1
Congenital diarrhea 7 with exudative enteropathy 0 1 0 0 0 1
Congenital dyserythropoietic anemia type 4 0 1 0 0 0 1
Congenital heart defects and ectodermal dysplasia 0 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 0 1
Congenital hereditary endothelial dystrophy of cornea 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 16 0 1 0 0 0 1
Congenital myasthenic syndrome 7 0 1 0 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 0 1
Congenital myasthenic syndrome 9 0 1 0 0 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 0 1
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 0 0 1 0 1
Corneal dystrophy 1 0 0 0 0 1
Cornelia de Lange syndrome 4 0 1 0 0 0 1
Costello syndrome 1 0 0 0 0 1
Cough 0 0 1 0 0 1
Cowden syndrome 1 1 0 0 0 0 1
Creatine transporter deficiency 1 0 0 0 0 1
Crigler-Najjar syndrome, type II 1 0 0 0 0 1
Cystinuria 0 1 0 0 0 1
DICER1-related tumor predisposition 1 0 0 0 0 1
De Lange syndrome 0 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 1
Decreased total neutrophil count 0 1 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 1 0 0 0 1
Deficiency of adenosine deaminase 2 0 0 0 1 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 0 1 0 1
Desmoid tumor 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 17 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 27 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 32 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 57 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 74 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 80 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 81 0 0 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 0 1
Developmental delay with variable neurologic and brain abnormalities 0 0 1 0 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 1 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 0 1
Diamond-Blackfan anemia 3 0 0 1 0 0 1
Diamond-Blackfan anemia 6 0 1 0 0 0 1
Dias-Logan syndrome 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 0 1
Dilated cardiomyopathy 1E 1 0 0 0 0 1
Dilated cardiomyopathy 1O 0 0 1 0 0 1
Dilated cardiomyopathy 1Y 0 0 1 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 1
Distal arthrogryposis 0 0 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 0 1
Drash syndrome 1 0 0 0 0 1
Duchenne muscular dystrophy 1 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 1 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 1
Dystonia 23 0 0 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 1
Enhanced S-cone syndrome 0 1 0 0 0 1
Enterokinase deficiency 1 0 0 0 0 1
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 1 0 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 0 1
Episodic ataxia type 1 1 0 0 0 0 1
Episodic ataxia type 2 0 0 1 0 0 1
Euthyroid goiter 1 0 0 0 0 1
Exostoses, multiple, type 1 0 1 0 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
Exudative vitreoretinopathy 1 0 0 1 0 0 1
Exudative vitreoretinopathy 5 1 0 0 0 0 1
Factor V deficiency 0 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 0 0 0 1 0 1
Familial cold autoinflammatory syndrome 1 0 1 0 0 0 1
Familial expansile osteolysis 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 0 0 0 1
Familial infantile myasthenia 0 1 0 0 0 1
Familial porphyria cutanea tarda 0 1 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 1 0 0 0 1
Fanconi anemia complementation group D1 0 0 1 0 0 1
Fanconi anemia complementation group D2 1 0 0 0 0 1
Fanconi anemia complementation group G 0 0 1 0 0 1
Fanconi anemia complementation group N 0 0 1 0 0 1
Farber lipogranulomatosis 0 1 0 0 0 1
Filippi syndrome 1 0 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 1
Fragile X syndrome 0 0 1 0 0 1
Freeman-Sheldon syndrome 1 0 0 0 0 1
Frontometaphyseal dysplasia 1 0 0 1 0 0 1
Frontotemporal dementia 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 1 0 0 0 0 1
GAPO syndrome 0 1 0 0 0 1
GNE myopathy 0 1 0 0 0 1
Galloway-Mowat syndrome 1 0 1 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 1
Gaucher disease 1 0 0 0 0 1
Gaucher disease perinatal lethal 1 0 0 0 0 1
Glioma susceptibility 1 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 1
Glutaric aciduria, type 1 0 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Glycogen storage disease, type IV 0 1 0 0 0 1
Glycogen storage disease, type V 1 0 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 0 1 0 0 1
Gray platelet syndrome 0 1 0 0 0 1
Groenouw corneal dystrophy type I 1 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 0 1
HER2 positive breast carcinoma 0 0 1 0 0 1
Hb SS disease 1 0 0 0 0 1
Hemorrhage, intracerebral, susceptibility to 0 0 0 1 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 0 1 0 1
Hepatic methionine adenosyltransferase deficiency 0 0 1 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 0 0 1 1
Hereditary cavernous hemangioma of brain 1 0 0 0 0 1
Hereditary coproporphyria 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia 1 0 0 0 0 1
Hereditary hyperferritinemia with congenital cataracts 0 1 0 0 0 1
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 1 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 0 1 0 0 1
Hereditary spastic paraplegia 15 0 1 0 0 0 1
Hereditary spastic paraplegia 30 0 0 1 0 0 1
Hereditary spastic paraplegia 52 0 1 0 0 0 1
Hereditary thrombophilia due to congenital protein S deficiency 0 0 1 0 0 1
Hermansky-Pudlak syndrome 0 0 1 0 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 1
Hermansky-Pudlak syndrome 7 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 0 1
Hidrotic ectodermal dysplasia syndrome 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 1
Hirschsprung disease, susceptibility to, 4 0 0 1 0 0 1
Holoprosencephaly 11 0 0 1 0 0 1
Holoprosencephaly 3 0 1 0 0 0 1
Holt-Oram syndrome 0 0 1 0 0 1
Hoyeraal-Hreidarsson syndrome 0 0 1 0 0 1
Hydatidiform mole, recurrent, 1 1 0 0 0 0 1
Hyperekplexia 1 1 0 0 0 0 1
Hyperimmunoglobulin D with periodic fever 0 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 0 1 0 0 1
Hyperparathyroidism 0 0 0 1 0 1
Hyperparathyroidism 1 0 0 1 0 0 1
Hyperparathyroidism 4 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 0 0 1
Hypertrophic cardiomyopathy 11 0 0 1 0 0 1
Hypertrophic cardiomyopathy 2 0 0 1 0 0 1
Hypertrophic cardiomyopathy 20 0 0 1 0 0 1
Hypertrophic cardiomyopathy 21 0 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 1 0 0 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 0 1 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 0 0 1 0 0 1
Hypothyroidism, congenital, nongoitrous, 8 0 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 0 1 0 0 1
Idiopathic basal ganglia calcification 1 0 1 0 0 0 1
Immunodeficiency, common variable, 3 0 0 1 0 0 1
Immunodeficiency, common variable, 4 0 0 0 1 0 1
Infantile epilepsy syndrome 0 0 1 0 0 1
Infantile liver failure syndrome 2 0 1 0 0 0 1
Inherited obesity 0 0 1 0 0 1
Intellectual developmental disorder 62 0 1 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 0 0 1 0 1
Intellectual developmental disorder, X-linked 108 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 0 1
Intellectual disability, autosomal dominant 24 1 0 0 0 0 1
Intellectual disability, autosomal dominant 30 0 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 0 1
Intellectual disability, autosomal dominant 43 0 0 1 0 0 1
Intellectual disability, autosomal dominant 47 0 0 1 0 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 0 1
Intellectual disability, autosomal dominant 57 1 0 0 0 0 1
Intellectual disability, autosomal dominant 9 0 0 1 0 0 1
Intellectual disability, autosomal recessive 65 0 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Islet cell adenomatosis 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 2 0 0 1 0 0 1
Joubert syndrome 3 0 1 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 1 0 0 1
Juvenile polyposis syndrome 0 0 1 0 0 1
Juvenile retinoschisis 1 0 0 0 0 1
Kabuki syndrome 2 0 0 1 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 1
Kostmann syndrome 0 0 1 0 0 1
LRP5-related primary osteoporosis 0 0 1 0 0 1
Lafora disease 1 0 0 0 0 1
Leber congenital amaurosis 1 0 1 0 0 0 1
Leber congenital amaurosis 4 1 0 0 0 0 1
Left ventricular noncompaction 8 0 0 1 0 0 1
Leri-Weill dyschondrosteosis 0 0 1 0 0 1
Lessel-Kreienkamp syndrome 0 1 0 0 0 1
Lethal congenital glycogen storage disease of heart 0 0 1 0 0 1
Leukocyte adhesion deficiency 0 0 1 0 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 0 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 0 1 0 0 1
Li-Fraumeni syndrome 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Loeys-Dietz syndrome 4 0 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
Low phospholipid associated cholelithiasis 1 0 0 0 0 1
MASS syndrome 0 1 0 0 0 1
MED12-related intellectual disability syndrome 0 0 1 0 0 1
MIRAGE syndrome 0 1 0 0 0 1
Macrocephaly-autism syndrome 1 0 0 0 0 1
Macrocephaly-autism syndrome; Cowden syndrome 1 0 0 1 0 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 0 0 1
Majeed syndrome 0 0 0 1 0 1
Malan overgrowth syndrome 1 0 0 0 0 1
Marden-Walker syndrome 0 0 1 0 0 1
Marshall syndrome; Stickler syndrome type 2 0 1 0 0 0 1
Maturity-onset diabetes of the young type 11 0 0 1 0 0 1
Medulloblastoma 1 0 0 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 1 0 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 0 1
Melnick-Needles syndrome 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Jansen type 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 1 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 1 0 0 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 0 0 1
Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 0 0 1
Mismatch repair cancer syndrome 1 1 0 0 0 0 1
Mitochondrial DNA deletion syndrome with progressive myopathy 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 4b 0 1 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 0 0 0 1
Mitochondrial non-syndromic sensorineural hearing loss 1 0 0 0 0 1
Monogenic diabetes 0 1 0 0 0 1
Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 1 0 0 1
Muenke syndrome 1 0 0 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 0 1
Multiple epiphyseal dysplasia type 5 1 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 0 1 0 0 1
Myelodysplastic syndrome 1 0 0 0 0 1
Myofibrillar myopathy 2 0 0 1 0 0 1
Myoglobinuria, acute recurrent, autosomal recessive 0 0 1 0 0 1
Neonatal severe primary hyperparathyroidism 0 1 0 0 0 1
Neurodegeneration, infantile-onset, biotin-responsive 0 1 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 0 0 1 0 1
Neutropenia, severe congenital, 8, autosomal dominant 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 0 1
Noonan syndrome 1 0 0 0 0 1
Noonan syndrome 10 0 0 1 0 0 1
Noonan syndrome 2; Noonan syndrome 10 0 0 1 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Obesity due to leptin receptor gene deficiency 0 0 1 0 0 1
Oculocutaneous albinism 0 1 0 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 0 1
Ornithine carbamoyltransferase deficiency 0 1 0 0 0 1
Osteochondritis dissecans 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 0 1
PTEN hamartoma tumor syndrome 0 0 1 0 0 1
Palmoplantar keratoderma, Nagashima type 1 0 0 0 0 1
Pancreatic cancer, susceptibility to, 3 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 1 1
Paramyotonia congenita of Von Eulenburg 0 0 1 0 0 1
Parkinsonian disorder 0 0 0 1 0 1
Peritoneum cancer 1 0 0 0 0 1
Peters plus syndrome 1 0 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 3 0 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 5 1 0 0 0 0 1
Phytanic acid storage disease 0 1 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 1
Pilomatrixoma 0 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 0 1
Platelet-type bleeding disorder 10 1 0 0 0 0 1
Platelet-type bleeding disorder 16 0 0 1 0 0 1
Platelet-type bleeding disorder 18 0 0 1 0 0 1
Platelet-type bleeding disorder 20 0 0 1 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 0 0 0 1
Polyposis syndrome, hereditary mixed, 2 0 1 0 0 0 1
Popliteal pterygium syndrome 0 0 1 0 0 1
Posterior polymorphous corneal dystrophy 0 1 0 0 0 1
Posterior polymorphous corneal dystrophy 1 0 1 0 0 0 1
Posterior polymorphous corneal dystrophy 3 0 1 0 0 0 1
Primary ciliary dyskinesia 11 0 0 1 0 0 1
Primary ciliary dyskinesia 14 0 0 1 0 0 1
Primary ciliary dyskinesia 17 0 0 1 0 0 1
Primary ciliary dyskinesia 20 0 1 0 0 0 1
Primary ciliary dyskinesia 25 0 0 1 0 0 1
Primary ciliary dyskinesia 29 0 0 1 0 0 1
Primary ciliary dyskinesia 30 0 0 0 1 0 1
Primary ciliary dyskinesia 9 0 0 0 1 0 1
Primary myelofibrosis 0 0 0 1 0 1
Primrose syndrome 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 3 0 1 0 0 0 1
Progressive sclerosing poliodystrophy 0 1 0 0 0 1
Prostate cancer, hereditary, 9 1 0 0 0 0 1
Protan defect 1 0 0 0 0 1
Protoporphyria, erythropoietic, 1 1 0 0 0 0 1
Pseudohypoparathyroidism type I A 0 1 0 0 0 1
Psoriasis 2 0 0 1 0 0 1
Ptosis, hereditary congenital, 1 0 0 1 0 0 1
Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 0 0 1 0 1
Pulmonary hypertension, primary, 1 1 0 0 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
RASopathy 0 1 0 0 0 1
RYR1-related myopathy 0 0 1 0 0 1
Renal carnitine transport defect 0 1 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 0 1
Renal-hepatic-pancreatic dysplasia 1 0 0 1 0 0 1
Respiratory infections, recurrent, and failure to thrive with or without diarrhea 0 1 0 0 0 1
Retinitis pigmentosa 11 0 0 1 0 0 1
Retinitis pigmentosa 13 0 0 1 0 0 1
Retinitis pigmentosa 19 1 0 0 0 0 1
Retinitis pigmentosa 2 1 0 0 0 0 1
Retinitis pigmentosa 28 1 0 0 0 0 1
Retinitis pigmentosa 37 0 1 0 0 0 1
Retinitis pigmentosa 38 0 0 1 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 1
Retinitis pigmentosa 42 1 0 0 0 0 1
Retinitis pigmentosa 54 0 0 1 0 0 1
Retinitis pigmentosa 55 0 0 1 0 0 1
Retinitis pigmentosa 61 0 1 0 0 0 1
Retinitis pigmentosa 7 1 0 0 0 0 1
Retinitis pigmentosa 73 0 1 0 0 0 1
Retinitis pigmentosa 74 1 0 0 0 0 1
Retinitis pigmentosa 90 0 0 1 0 0 1
Rett syndrome 1 0 0 0 0 1
Rhabdoid tumor predisposition syndrome 1 1 0 0 0 0 1
Rhabdomyosarcoma, embryonal, 2 1 0 0 0 0 1
Rienhoff syndrome 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 0 1 0 0 1
Saethre-Chotzen syndrome 0 1 0 0 0 1
Sarcosine dehydrogenase deficiency 0 0 1 0 0 1
Schaaf-Yang syndrome 0 0 1 0 0 1
Schimke immuno-osseous dysplasia 0 1 0 0 0 1
Schnyder crystalline corneal dystrophy 0 1 0 0 0 1
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 0 0 1 0 0 1
Severe combined immunodeficiency due to IKK2 deficiency 0 0 1 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 1
Sick sinus syndrome 0 1 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 0 1 0 0 0 1
Skraban-Deardorff syndrome 1 0 0 0 0 1
Smith-Magenis syndrome 0 0 0 1 0 1
Spastic ataxia 5 0 0 1 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 0 0 1
Spinocerebellar ataxia 44 0 0 1 0 0 1
Spinocerebellar ataxia 47 1 0 0 0 0 1
Spinocerebellar ataxia 48 0 1 0 0 0 1
Spinocerebellar ataxia type 11 0 0 1 0 0 1
Spinocerebellar ataxia type 21 1 0 0 0 0 1
Spinocerebellar ataxia type 29 0 1 0 0 0 1
Spinocerebellar ataxia type 42 1 0 0 0 0 1
Spinocerebellar ataxia type 6 1 0 0 0 0 1
Split hand-foot malformation 6 0 1 0 0 0 1
Spondylocarpotarsal synostosis syndrome 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 0 1 0 0 1
Spondyloperipheral dysplasia 0 0 1 0 0 1
Stickler syndrome type 1 0 1 0 0 0 1
Syndromic X-linked intellectual disability Hedera type 0 1 0 0 0 1
Syndromic X-linked intellectual disability Lubs type 1 0 0 0 0 1
Syndromic intellectual disability 0 1 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Thanatophoric dysplasia, type 2 1 0 0 0 0 1
Thiel-Behnke corneal dystrophy 1 0 0 0 0 1
Thrombocytopenia 5 0 1 0 0 0 1
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0 0 1 0 0 1
Timothy syndrome 0 0 0 0 1 1
Tooth agenesis, selective, 4 0 1 0 0 0 1
Tooth agenesis, selective, X-linked, 1 1 0 0 0 0 1
Treacher Collins syndrome 1 0 0 1 0 0 1
Triglyceride storage disease with ichthyosis 1 0 0 0 0 1
Tuberous sclerosis 1 0 0 1 0 0 1
Type 2 diabetes mellitus 1 0 0 0 0 1
Uveal melanoma 1 0 0 0 0 1
VPS13A-related neurodegenerative disease 0 1 0 0 0 1
Van der Woude syndrome 1 0 1 0 0 0 1
Weaver syndrome 0 1 0 0 0 1
Wiskott-Aldrich syndrome 2 0 0 1 0 0 1
Wolfram syndrome 1 0 0 0 1 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 0 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 0 1 0 0 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 1 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1
X-linked sideroblastic anemia 1 0 0 1 0 0 1

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