ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Location: India  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 risk factor total
336 260 369 0 1 1 966

Gene and significance breakdown #

Total genes and gene combinations: 526
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign risk factor total
HEXA 29 9 1 0 0 39
GALNS 9 12 2 0 0 23
GBA1, LOC106627981 8 12 1 0 0 20
GAA 8 5 1 0 0 14
GLB1 5 6 3 0 0 14
TPP1 4 8 1 0 0 13
SMPD1 8 4 0 0 0 12
ARSA 9 1 1 0 0 11
MLH1 6 2 2 0 0 10
NAGLU 4 6 0 0 0 10
DYSF 3 5 1 0 0 9
IDUA 7 2 0 0 0 9
SGSH 3 5 1 0 0 9
CAPN3 3 3 2 0 0 8
DMD 4 3 1 0 0 8
IDS 8 0 0 0 0 8
IDS, LOC106050102 4 2 2 0 0 8
GALC 3 3 1 0 0 7
GNPTAB 5 2 0 0 0 7
MECP2 4 2 1 0 0 7
NPC1 4 0 3 0 0 7
HEXB 5 1 0 0 0 6
TYR 4 2 0 0 0 6
ARSB 3 1 1 0 0 5
DYNC2H1 1 3 1 0 0 5
NF1 3 0 2 0 0 5
SPG11 2 1 2 0 0 5
ABCB11 0 1 3 0 0 4
ATM, C11orf65 2 1 1 0 0 4
ATP7B 2 1 1 0 0 4
C19orf12 0 0 4 0 0 4
CACNA1A 1 1 2 0 0 4
CCDC88C 1 0 3 0 0 4
COL4A5 1 2 1 0 0 4
COL7A1 3 0 1 0 0 4
GLB1, LOC129936434, TMPPE 1 2 1 0 0 4
GNE 4 0 0 0 0 4
PPT1 0 4 0 0 0 4
SCN1A 1 2 1 0 0 4
SCN2A 2 1 1 0 0 4
TRIO 0 0 4 0 0 4
USH2A 1 1 2 0 0 4
APC 1 0 2 0 0 3
AR 1 1 1 0 0 3
ATM 0 1 2 0 0 3
BRCA2 0 0 3 0 0 3
CFTR 2 0 1 0 0 3
CIC 0 0 3 0 0 3
CREBBP 0 0 3 0 0 3
DEPDC5 0 0 3 0 0 3
DOK7 2 0 1 0 0 3
GCDH 0 3 0 0 0 3
KMT2C 0 0 3 0 0 3
LAMA2 1 2 0 0 0 3
LZTR1 0 1 2 0 0 3
MFSD8 1 0 2 0 0 3
MYO7A 1 0 2 0 0 3
NIPBL 2 0 1 0 0 3
NPC2 2 1 0 0 0 3
NPHP4 1 0 2 0 0 3
OTC 1 0 2 0 0 3
PMFBP1 2 1 0 0 0 3
POLG, POLGARF 1 1 1 0 0 3
PSAP 0 2 1 0 0 3
TCOF1 1 1 1 0 0 3
TGM1 1 2 0 0 0 3
TUBGCP6 0 0 3 0 0 3
ABCA12 0 2 0 0 0 2
ABCA12, SNHG31 1 1 0 0 0 2
ABCC8 1 1 0 0 0 2
ABCD1 1 1 0 0 0 2
ACAN 0 0 2 0 0 2
ADGRG1 2 0 0 0 0 2
ALDH4A1 0 1 1 0 0 2
ALMS1 0 0 2 0 0 2
ANKRD11 0 1 1 0 0 2
ANKRD17 0 0 2 0 0 2
ARID2 1 0 1 0 0 2
ARSB, LOC129994126 2 0 0 0 0 2
BBS10 1 1 0 0 0 2
BMP1 0 0 2 0 0 2
BRAF 1 1 0 0 0 2
BRCA1 2 0 0 0 0 2
CDH23 0 0 2 0 0 2
CLCN7 0 0 2 0 0 2
CLN6 0 2 0 0 0 2
CNTNAP2 0 1 1 0 0 2
COL1A1 1 1 0 0 0 2
COL1A2 1 0 1 0 0 2
COL6A2 0 0 2 0 0 2
COL6A3 0 1 1 0 0 2
CR2 0 2 0 0 0 2
DDHD1 0 0 2 0 0 2
DMXL2 0 0 2 0 0 2
DNAH1 1 1 0 0 0 2
DNAH9 0 0 2 0 0 2
ETHE1 1 0 1 0 0 2
FA2H 0 0 2 0 0 2
FAM20C 0 1 1 0 0 2
FBN1 0 1 1 0 0 2
FGFR2 2 0 0 0 0 2
FGFR3 1 0 1 0 0 2
FLNC 0 0 2 0 0 2
G6PC1 2 0 0 0 0 2
GALNS, LOC130059762, TRAPPC2L 1 1 0 0 0 2
GHR 0 2 0 0 0 2
GJB2 1 1 0 0 0 2
GLA, RPL36A-HNRNPH2 0 2 0 0 0 2
GM2A 0 2 0 0 0 2
GRIA4 0 0 2 0 0 2
HCN1 0 0 2 0 0 2
HECW2 0 0 2 0 0 2
HUWE1 0 0 2 0 0 2
HYDIN 0 0 2 0 0 2
IDUA, SLC26A1 2 0 0 0 0 2
IL2RG 2 0 0 0 0 2
KCNQ2 2 0 0 0 0 2
LRP5 0 1 1 0 0 2
MED12L 0 0 2 0 0 2
MLC1 0 1 1 0 0 2
MSH2 1 0 1 0 0 2
MSH6 0 0 2 0 0 2
MTHFR 1 1 0 0 0 2
MUTYH 2 0 0 0 0 2
NARS2 0 0 2 0 0 2
NPHS1 1 1 0 0 0 2
P3H1 2 0 0 0 0 2
PANK2 0 1 1 0 0 2
PCDH15 0 0 2 0 0 2
PDE2A 0 0 2 0 0 2
PHKA2 1 1 0 0 0 2
PIGG 1 0 1 0 0 2
PKD2 1 0 1 0 0 2
PLP1, RAB9B 0 2 0 0 0 2
PSEN1 0 0 2 0 0 2
PTS 2 0 0 0 0 2
RAG1 1 1 0 0 0 2
RPE65 0 1 1 0 0 2
RYR1 0 1 1 0 0 2
SERPINF1 1 1 0 0 0 2
SETD1A 0 0 2 0 0 2
SETD1B 1 0 1 0 0 2
SLC17A5 0 2 0 0 0 2
SPTBN2 0 0 2 0 0 2
SRCAP 1 0 1 0 0 2
SUCLG1 0 0 2 0 0 2
TBR1 0 0 2 0 0 2
TNNT3 0 1 1 0 0 2
TNRC6B 0 0 2 0 0 2
TP63 0 1 1 0 0 2
TSC2 0 0 2 0 0 2
TTN 0 1 1 0 0 2
TUBB2B 0 1 1 0 0 2
ZNF292 0 0 2 0 0 2
AAAS 1 0 0 0 0 1
ABCA3 0 0 1 0 0 1
ABCA4, LOC126805793 1 0 0 0 0 1
ABL1 1 0 0 0 0 1
ACADVL 1 0 0 0 0 1
ACAT1 0 1 0 0 0 1
ACTA1 0 1 0 0 0 1
ACTB 0 1 0 0 0 1
ACTG1 0 0 1 0 0 1
ACTN2 0 0 1 0 0 1
ADAMTSL2 0 0 1 0 0 1
ADCY10, DCAF6 0 0 1 0 0 1
ADCY5 0 0 1 0 0 1
ADO, ANK3, ANK3-DT, ARID5B, ATOH7, CABCOCO1, CCDC6, CDK1, CTNNA3, DNAJC12, EGR2, HERC4, JMJD1C, LINC00845, LINC01515, LINC01553, LINC02621, LINC02671, LOC101928961, LOC105378328, LOC107832851, LOC107984236, LOC111946248, LOC111946249, LOC111946250, LOC116216113, LOC121366056, LOC121366057, LOC121815941, LOC121815942, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132211101, LOC283045, LRRTM3, MIR1296, MIR7151, MYPN, NRBF2, REEP3, RHOBTB1, RTKN2, SIRT1, TMEM26, TRS-TGA1-1, ZNF365 0 1 0 0 0 1
AFG3L2 0 1 0 0 0 1
AGRN 0 0 1 0 0 1
ALAD 0 0 1 0 0 1
ALDH5A1 1 0 0 0 0 1
ALDH7A1 0 1 0 0 0 1
ALS2 1 0 0 0 0 1
AMPD2 0 0 1 0 0 1
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 1
AP1G1 0 0 1 0 0 1
AP4B1 1 0 0 0 0 1
APP 0 1 0 0 0 1
APTX 1 0 0 0 0 1
ARG1, MED23 1 0 0 0 0 1
ARID1A 0 0 1 0 0 1
ASL 0 0 1 0 0 1
ASPA, SPATA22 1 0 0 0 0 1
ASPM 1 0 0 0 0 1
ASS1 0 1 0 0 0 1
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 1
ATP13A2 0 0 1 0 0 1
ATP7A 1 0 0 0 0 1
ATRX 0 0 1 0 0 1
AUTS2 1 0 0 0 0 1
B4GALT7 1 0 0 0 0 1
BCL11A 0 0 1 0 0 1
BDP1 0 0 1 0 0 1
BICRA 0 0 1 0 0 1
BMPR1A 1 0 0 0 0 1
BRCA1, LOC126862571 0 1 0 0 0 1
BRIP1 0 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 1
C12orf57 1 0 0 0 0 1
C17orf107, CHRNE 1 0 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
C3 0 0 1 0 0 1
CA8 0 1 0 0 0 1
CACNA1C 0 0 1 0 0 1
CACNA1D, LOC129936904 0 0 1 0 0 1
CACNA1E 0 0 1 0 0 1
CACNA1S 1 0 0 0 0 1
CAMK2A 0 1 0 0 0 1
CASK 0 0 1 0 0 1
CCDC183 0 1 0 0 0 1
CCDC92B, CLUH, LOC105371490, LOC105371592, LOC129390822, LOC130059967, LOC130059968, LOC130059969, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2 0 1 0 0 0 1
CDH1 0 0 1 0 0 1
CDH2 0 0 1 0 0 1
CDK13 0 0 1 0 0 1
CEP290 1 0 0 0 0 1
CHD1 0 0 1 0 0 1
CHD2 1 0 0 0 0 1
CHD3 1 0 0 0 0 1
CHD4 0 0 1 0 0 1
CHKB, CHKB-CPT1B 0 1 0 0 0 1
CHRNA3 1 0 0 0 0 1
CHRND 0 0 1 0 0 1
CIB2, LOC130057683 0 0 1 0 0 1
CLCN2 0 1 0 0 0 1
CLDN11 0 0 1 0 0 1
CLN5 0 0 1 0 0 1
CNGB3 1 0 0 0 0 1
COL11A2 0 0 1 0 0 1
COL12A1 0 0 1 0 0 1
COL4A1 0 1 0 0 0 1
COL4A5, COL4A6, LOC126863301 0 1 0 0 0 1
COL5A1 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COMP 0 1 0 0 0 1
CPT1C 0 0 1 0 0 1
CTCFL 0 0 1 0 0 1
CUL7 0 0 1 0 0 1
CUX2 0 0 1 0 0 1
CYP11B1, LOC106799833 1 0 0 0 0 1
CYP1B1 0 1 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
DCDC2 0 0 1 0 0 1
DCHS1 1 0 0 0 0 1
DEAF1 1 0 0 0 0 1
DES 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 1
DMAC2L, L2HGDH 1 0 0 0 0 1
DNAH17 0 0 1 0 0 1
DNAH17, LOC126862653 0 0 1 0 0 1
DPP6 0 0 1 0 0 1
DYNC1H1 0 1 0 0 0 1
EDA 1 0 0 0 0 1
EHMT1 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 1
EIF2B1, LOC126861664 0 1 0 0 0 1
ELOVL4 0 1 0 0 0 1
EPB41L1 0 0 1 0 0 1
EPCAM 0 0 1 0 0 1
EPHA2 1 0 0 0 0 1
EPHB4 0 1 0 0 0 1
ESPN 0 0 1 0 0 1
ETFA 0 0 1 0 0 1
EXTL3 0 1 0 0 0 1
EYA1 0 1 0 0 0 1
F8 1 0 0 0 0 1
FAM83F 0 0 1 0 0 1
FBN2 0 0 1 0 0 1
FBXO7 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FKRP 1 0 0 0 0 1
FLNB 0 0 1 0 0 1
FN1, LOC126806499 0 0 1 0 0 1
FOXG1 0 1 0 0 0 1
FOXP3 0 0 1 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 1
FUCA1 1 0 0 0 0 1
G6PD 0 0 1 0 0 1
GABRB3 0 0 1 0 0 1
GALC, LOC130056217 1 0 0 0 0 1
GALC, SPATA7 0 1 0 0 0 1
GALE 1 0 0 0 0 1
GALNS, LOC126862447 0 1 0 0 0 1
GATA4 0 0 1 0 0 1
GCH1 0 1 0 0 0 1
GDAP1 1 0 0 0 0 1
GDF3 0 0 1 0 0 1
GDF5 0 0 1 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 1
GLUD1 0 1 0 0 0 1
GNPTG 1 0 0 0 0 1
GRM1 1 0 0 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HDAC8 1 0 0 0 0 1
HEPACAM 0 0 1 0 0 1
HFE 0 0 1 0 0 1
HGSNAT 0 1 0 0 0 1
HMGCL 1 0 0 0 0 1
HNF4A 0 0 1 0 0 1
HNRNPA1 0 0 1 0 0 1
HNRNPH1, LOC128966623 0 0 1 0 0 1
HSALR1, PIEZO1 0 0 1 0 0 1
HSD17B10 0 0 1 0 0 1
HSD3B2 0 0 1 0 0 1
HSPB1 1 0 0 0 0 1
IBA57 0 1 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFT88 0 0 1 0 0 1
IGHMBP2 1 0 0 0 0 1
IGHMBP2, LOC126861245 0 0 1 0 0 1
IL2RG, LOC126863274 0 1 0 0 0 1
INPP5K 0 0 1 0 0 1
IRF2BPL 0 0 1 0 0 1
ISCA2 0 0 1 0 0 1
ITGB3 0 1 0 0 0 1
KAT6A 0 0 1 0 0 1
KCNC3 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNJ1 1 0 0 0 0 1
KCNQ3 0 0 1 0 0 1
KCNQ5 0 0 1 0 0 1
KCTD7 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
KIF14 0 0 1 0 0 1
KIF1A 1 0 0 0 0 1
KIF1B 0 0 1 0 0 1
KIF2A 0 0 1 0 0 1
KLHL41 0 1 0 0 0 1
KMT5B 0 0 1 0 0 1
KRIT1 0 0 1 0 0 1
KRT5 0 0 1 0 0 1
L2HGDH 1 0 0 0 0 1
LAMB3 1 0 0 0 0 1
LARP7 1 0 0 0 0 1
LINS1 0 1 0 0 0 1
LIPA 0 1 0 0 0 1
LMAN2L 0 1 0 0 0 1
LMNA, LOC129931597 0 1 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 1
LOC108281134, SOX3 0 0 1 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 0 1 1
LOC125446261, MLC1 0 0 1 0 0 1
LOC126806426, TTN 0 0 1 0 0 1
LOC126861898, MYH7 0 0 1 0 0 1
LOC126862902, RYR1 0 1 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129992585, SGCB 0 0 1 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 1
LOC130060903, NAGLU 0 0 1 0 0 1
LOC130065345, PANK2 1 0 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 1
LPAR6, RB1 1 0 0 0 0 1
LRFN1 0 1 0 0 0 1
LTBP4 1 0 0 0 0 1
MAGEL2 0 0 1 0 0 1
MAST1 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MED13 0 1 0 0 0 1
MINPP1 0 0 1 0 0 1
MLH3 0 0 1 0 0 1
MMAA 1 0 0 0 0 1
MMAB 1 0 0 0 0 1
MORC2 0 0 1 0 0 1
MSTO1 0 0 1 0 0 1
MTMR2 1 0 0 0 0 1
MTSS2 0 0 1 0 0 1
MVP-DT, PRRT2 0 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 0 1
NDUFAF6 1 0 0 0 0 1
NEB 0 0 1 0 0 1
NEU1 1 0 0 0 0 1
NEUROG1 0 1 0 0 0 1
NEXMIF 0 0 1 0 0 1
NF2 1 0 0 0 0 1
NIPAL4 1 0 0 0 0 1
NLGN3 0 1 0 0 0 1
NLRC4 0 0 1 0 0 1
NOTCH3 0 0 1 0 0 1
NPRL2 0 0 1 0 0 1
NR0B1 0 0 1 0 0 1
NRCAM 0 1 0 0 0 1
NRROS 0 1 0 0 0 1
NSD1 1 0 0 0 0 1
OBSL1 1 0 0 0 0 1
OCRL 0 1 0 0 0 1
OTOGL 0 0 1 0 0 1
OTUD5 0 0 1 0 0 1
PACS2 0 0 1 0 0 1
PAFAH1B1 0 0 1 0 0 1
PC 0 1 0 0 0 1
PCARE 1 0 0 0 0 1
PCCA 1 0 0 0 0 1
PCNT 0 0 1 0 0 1
PDE6B 0 0 1 0 0 1
PDE6H 0 0 1 0 0 1
PDHA1 0 1 0 0 0 1
PGAP1 0 0 1 0 0 1
PGM3 0 1 0 0 0 1
PHGDH 1 0 0 0 0 1
PHKB 0 1 0 0 0 1
PIGA 0 0 1 0 0 1
PIK3CD 1 0 0 0 0 1
PJVK 0 0 1 0 0 1
PKD1 1 0 0 0 0 1
PLA2G6 0 1 0 0 0 1
PLCE1 1 0 0 0 0 1
PLEC 0 0 1 0 0 1
PLOD1 0 1 0 0 0 1
POLE 0 0 1 0 0 1
POLR1C 0 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
POMGNT2 0 0 1 0 0 1
POP1 0 0 1 0 0 1
POU1F1 0 1 0 0 0 1
PRF1 0 1 0 0 0 1
PRKN 0 1 0 0 0 1
PROC 0 0 1 0 0 1
PRX 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
QRICH1 0 0 1 0 0 1
QRICH2 0 0 1 0 0 1
RAB27A 0 1 0 0 0 1
RAD54L 0 0 1 0 0 1
RAPSN 0 0 1 0 0 1
RARS1 0 0 1 0 0 1
RBM5 0 0 1 0 0 1
RET 0 1 0 0 0 1
RFX7 0 0 1 0 0 1
RFXANK 0 1 0 0 0 1
RMND1 1 0 0 0 0 1
RNASEH2C 1 0 0 0 0 1
RNF213 0 0 1 0 0 1
RORA 0 0 1 0 0 1
RORB 1 0 0 0 0 1
RPGR 1 0 0 0 0 1
RPGRIP1 0 0 1 0 0 1
RPL10 0 1 0 0 0 1
RPS19 1 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 1
SALL1 0 0 1 0 0 1
SCAPER 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCNN1B 0 1 0 0 0 1
SCYL2 1 0 0 0 0 1
SERAC1 1 0 0 0 0 1
SERPINH1 0 0 1 0 0 1
SETBP1 0 0 1 0 0 1
SETD2 0 0 1 0 0 1
SGCA 0 0 1 0 0 1
SGCB 0 1 0 0 0 1
SH2D1A 0 1 0 0 0 1
SHOX 0 0 1 0 0 1
SLC17A8 0 0 1 0 0 1
SLC26A4 0 0 1 0 0 1
SLC2A2 1 0 0 0 0 1
SLC37A4 1 0 0 0 0 1
SLC6A19 0 1 0 0 0 1
SLC6A4 0 1 0 0 0 1
SLC9A7 0 0 1 0 0 1
SLC9A9 0 0 1 0 0 1
SMARCA4 0 0 1 0 0 1
SMC1A 1 0 0 0 0 1
SNCA 0 0 1 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
SON 0 0 1 0 0 1
SOS1 1 0 0 0 0 1
SOS2 0 0 1 0 0 1
SOX30 0 0 1 0 0 1
SPAST 0 1 0 0 0 1
SPTB 0 0 1 0 0 1
SRD5A2 0 0 1 0 0 1
SRD5A3 1 0 0 0 0 1
STAG1 0 0 1 0 0 1
STK11 0 0 1 0 0 1
STXBP1 0 1 0 0 0 1
SUMF1 0 1 0 0 0 1
SUPT16H 0 0 1 0 0 1
SURF1 1 0 0 0 0 1
SYNE1 0 0 1 0 0 1
SYNGAP1 0 1 0 0 0 1
SYNJ1 1 0 0 0 0 1
SZT2 0 0 1 0 0 1
TAFAZZIN 0 1 0 0 0 1
TAOK1 0 0 1 0 0 1
TAOK2 0 0 1 0 0 1
TBL1XR1 0 1 0 0 0 1
TCF20 0 0 1 0 0 1
TCF4 1 0 0 0 0 1
TENT5A 0 0 1 0 0 1
THAP1 0 0 1 0 0 1
TMEM138 0 1 0 0 0 1
TNNI3 0 0 1 0 0 1
TNPO3 0 0 1 0 0 1
TNXB 0 0 1 0 0 1
TOP2B 0 0 1 0 0 1
TOR1A 0 1 0 0 0 1
TPO 1 0 0 0 0 1
TPRN 0 1 0 0 0 1
TRIP11 1 0 0 0 0 1
TRIP4 1 0 0 0 0 1
TRMT10A 1 0 0 0 0 1
TRPS1 0 0 1 0 0 1
TSTD3, USP45 0 0 1 0 0 1
TULP1 0 0 1 0 0 1
UGP2 0 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 0 1
UMOD 0 0 1 0 0 1
UNC79 0 0 1 0 0 1
USP9X 0 0 1 0 0 1
VPS13A 1 0 0 0 0 1
VPS13B 1 0 0 0 0 1
VPS16 0 0 1 0 0 1
WAS 1 0 0 0 0 1
WDFY3 0 0 1 0 0 1
WT1 0 1 0 0 0 1
XPA 0 1 0 0 0 1
XPC 0 1 0 0 0 1
YY1 0 0 1 0 0 1
ZEB2 0 0 1 0 0 1
ZIC3 1 0 0 0 0 1
ZMIZ1 0 0 0 1 0 1
ZNF142 0 0 1 0 0 1
ZNF462 0 0 1 0 0 1
ZPBP 0 0 1 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 544
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign risk factor total
Tay-Sachs disease 29 9 1 0 0 39
Mucopolysaccharidosis, MPS-IV-A 11 14 2 0 0 27
Gaucher disease type I 8 10 0 0 0 18
Infantile GM1 gangliosidosis 6 8 2 0 0 16
Mucopolysaccharidosis, MPS-II 12 2 2 0 0 16
Glycogen storage disease, type II 8 5 1 0 0 14
Neuronal ceroid lipofuscinosis 2 4 8 0 0 0 12
Metachromatic leukodystrophy 9 1 1 0 0 11
Mucopolysaccharidosis, MPS-III-B 4 6 1 0 0 11
Colorectal cancer, hereditary nonpolyposis, type 2 6 2 2 0 0 10
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 5 1 0 0 9
Galactosylceramide beta-galactosidase deficiency 4 4 1 0 0 9
Hurler syndrome 7 2 0 0 0 9
Mucopolysaccharidosis, MPS-III-A 3 5 1 0 0 9
Niemann-Pick disease, type A 5 4 0 0 0 9
See cases 0 2 6 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2A 3 3 1 0 0 7
Duchenne muscular dystrophy 3 3 1 0 0 7
Mucolipidosis type II 5 2 0 0 0 7
Mucopolysaccharidosis type 6 5 1 1 0 0 7
Niemann-Pick disease, type C1 3 0 3 0 0 6
Sandhoff disease 5 1 0 0 0 6
Asphyxiating thoracic dystrophy 3 1 3 1 0 0 5
Familial cancer of breast 0 0 5 0 0 5
Hereditary spastic paraplegia 11 2 1 2 0 0 5
Neurofibromatosis, type 1 3 0 2 0 0 5
X-linked Alport syndrome 1 4 0 0 0 5
Ataxia-telangiectasia syndrome 2 2 0 0 0 4
Benign recurrent intrahepatic cholestasis type 2 0 1 3 0 0 4
Developmental and epileptic encephalopathy, 11 2 1 1 0 0 4
GNE myopathy 4 0 0 0 0 4
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 4 0 0 4
Neurodegeneration with brain iron accumulation 4 0 0 4 0 0 4
Neuronal ceroid lipofuscinosis 1 0 4 0 0 0 4
Niemann-Pick disease, type B; Niemann-Pick disease, type A 4 0 0 0 0 4
Niemann-Pick disease, type C2 3 1 0 0 0 4
Rett syndrome 3 1 0 0 0 4
Tyrosinase-negative oculocutaneous albinism 4 0 0 0 0 4
Wilson disease 2 1 1 0 0 4
Autosomal recessive congenital ichthyosis 1 1 2 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 1 2 1 0 0 0 3
Central core myopathy 0 2 1 0 0 3
Cornelia de Lange syndrome 1 2 0 1 0 0 3
Cystic fibrosis 2 0 1 0 0 3
Developmental and epileptic encephalopathy, 42 0 1 2 0 0 3
Epilepsy, familial focal, with variable foci 1 0 0 3 0 0 3
Glutaric aciduria, type 1 0 3 0 0 0 3
Intellectual disability, autosomal dominant 45 0 0 3 0 0 3
Kleefstra syndrome 2 0 0 3 0 0 3
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 2 0 0 3
Menke-Hennekam syndrome 1 0 0 3 0 0 3
Microcephaly and chorioretinopathy 1 0 0 3 0 0 3
Nephronophthisis 4 1 0 2 0 0 3
Neuronal ceroid lipofuscinosis 7 1 0 2 0 0 3
Ornithine carbamoyltransferase deficiency 1 0 2 0 0 3
Osteogenesis imperfecta type 6 1 1 1 0 0 3
Pigmentary pallidal degeneration 1 1 1 0 0 3
Recessive dystrophic epidermolysis bullosa 2 0 1 0 0 3
Severe myoclonic epilepsy in infancy 0 1 2 0 0 3
Spermatogenic failure 31 2 1 0 0 0 3
Treacher Collins syndrome 1 1 1 1 0 0 3
Usher syndrome type 2A 0 1 2 0 0 3
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 0 0 0 0 2
Adrenoleukodystrophy 1 1 0 0 0 2
Alstrom syndrome 0 0 2 0 0 2
Arthrogryposis, distal, type 2B2 0 1 1 0 0 2
Autism, susceptibility to, 15 0 1 1 0 0 2
Autism, susceptibility to, 5 0 0 2 0 0 2
Autosomal recessive congenital ichthyosis 4A 0 2 0 0 0 2
Autosomal recessive congenital ichthyosis 4B 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 1 1 0 0 0 2
Autosomal recessive osteopetrosis 4 0 0 2 0 0 2
Bardet-Biedl syndrome 10 1 1 0 0 0 2
Bethlem myopathy 1A 0 1 1 0 0 2
Bilateral frontoparietal polymicrogyria 2 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 1 1 1 0 0 0 2
Ceroid lipofuscinosis, neuronal, 6A 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2S 1 0 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2X 1 0 1 0 0 2
Chopra-Amiel-Gordon syndrome 0 0 2 0 0 2
Ciliary dyskinesia, primary, 40 0 0 2 0 0 2
Coffin-Siris syndrome 6 1 0 1 0 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 0 0 2
Congenital myasthenic syndrome 10 2 0 0 0 0 2
Diamond-Blackfan anemia 1 2 0 0 0 0 2
Ethylmalonic encephalopathy 1 0 1 0 0 2
Fabry disease 0 2 0 0 0 2
Familial adenomatous polyposis 1 1 0 1 0 0 2
Familial adenomatous polyposis 2 2 0 0 0 0 2
Finnish congenital nephrotic syndrome 1 1 0 0 0 2
GM1 gangliosidosis type 2 0 0 2 0 0 2
Gaucher disease type II 0 2 0 0 0 2
Global developmental delay with speech and behavioral abnormalities 0 0 2 0 0 2
Glycogen storage disease IXa1 1 1 0 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 0 0 2
Hearing loss, autosomal dominant 71 0 0 2 0 0 2
Hereditary spastic paraplegia 28 0 0 2 0 0 2
Hereditary spastic paraplegia 35 0 0 2 0 0 2
Histiocytic medullary reticulosis 1 1 0 0 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 1 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 1 0 1 0 0 2
Hyperinsulinemic hypoglycemia, familial, 1 1 1 0 0 0 2
Hyperprolinemia type 2 0 1 1 0 0 2
Immunodeficiency, common variable, 7 0 2 0 0 0 2
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 0 2 0 0 2
Intellectual developmental disorder with seizures and language delay 1 0 1 0 0 2
Intellectual developmental disorder, autosomal dominant 64 0 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 70 0 1 1 0 0 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 0 0 2
Intellectual disability, autosomal recessive 53 1 0 1 0 0 2
KBG syndrome 0 1 1 0 0 2
L-2-hydroxyglutaric aciduria 2 0 0 0 0 2
Laron-type isolated somatotropin defect 0 2 0 0 0 2
Leigh syndrome 2 0 0 0 0 2
Lethal osteosclerotic bone dysplasia 0 1 1 0 0 2
Lynch syndrome 1 1 0 1 0 0 2
Lynch syndrome 5 0 0 2 0 0 2
Mitochondrial DNA depletion syndrome 4b 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 9 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 2 0 0 2
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 2 0 0 2
Nizon-Isidor syndrome 0 0 2 0 0 2
Noonan syndrome 10 0 1 1 0 0 2
Osteogenesis imperfecta type 13 0 0 2 0 0 2
Osteogenesis imperfecta type 8 2 0 0 0 0 2
Polycystic kidney disease 2 1 0 1 0 0 2
Primary ciliary dyskinesia 5 0 0 2 0 0 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 1 1 0 0 0 2
Spermatogenic failure 18 1 1 0 0 0 2
Spermatogenic failure 39 0 0 2 0 0 2
Sphingolipid activator protein 1 deficiency 0 2 0 0 0 2
Spinocerebellar ataxia type 40 0 0 2 0 0 2
Spinocerebellar ataxia type 5 0 0 2 0 0 2
Tay-Sachs disease, variant AB 0 2 0 0 0 2
Tuberous sclerosis 2 0 0 2 0 0 2
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 0 2 0 0 0 2
Ullrich congenital muscular dystrophy 1A 0 0 2 0 0 2
Vanishing white matter disease 0 1 1 0 0 2
X-linked severe combined immunodeficiency 1 1 0 0 0 2
Xeroderma pigmentosum group A 0 2 0 0 0 2
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 1 0 0 1
3-Methylglutaconic aciduria type 2 0 1 0 0 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 0 1
3M syndrome 1 0 0 1 0 0 1
3M syndrome 2 1 0 0 0 0 1
ADULT syndrome 0 0 1 0 0 1
ADULT syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 0 0 1
Achondrogenesis, type IA 1 0 0 0 0 1
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Actin accumulation myopathy 0 1 0 0 0 1
Aicardi-Goutieres syndrome 3 1 0 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 0 1
Alzheimer disease 3 0 0 1 0 0 1
Alzheimer disease 3; Frontotemporal dementia 0 0 1 0 0 1
Alzheimer disease type 1 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 1 0 0 0 0 1
Anauxetic dysplasia 2 0 0 1 0 0 1
Androgen resistance syndrome 1 0 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 0 1 0 0 1
Angelman syndrome 0 0 1 0 0 1
Anterior segment dysgenesis 6 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 10 0 1 0 0 0 1
Arginase deficiency 1 0 0 0 0 1
Argininosuccinate lyase deficiency 0 0 1 0 0 1
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 1 0 0 0 0 1
Arthrogryposis multiplex congenita 5 0 1 0 0 0 1
Arthrogryposis multiplex congenita 6 0 0 1 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 0 0 1
Atelosteogenesis type III; Larsen syndrome 0 0 1 0 0 1
Atrial conduction disease 0 0 1 0 0 1
Attention deficit-hyperactivity disorder 8 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 0 1
Autism 0 0 1 0 0 1
Autism and apraxia 0 0 1 0 0 1
Autism spectrum disorder 0 0 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 1
Autism, susceptibility to, 16 0 0 1 0 0 1
Autism, susceptibility to, X-linked 1 0 1 0 0 0 1
Autism, susceptibility to, X-linked 3 1 0 0 0 0 1
Autosomal dominant Parkinson disease 1 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 25 0 0 1 0 0 1
Autosomal recessive Parkinson disease 14 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 6 1 0 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 66 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 0 1 0 0 1
Autosomal recessive pseudohypoaldosteronism type 1 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 13 1 0 0 0 0 1
Baraitser-Winter syndrome 1 0 1 0 0 0 1
Baraitser-winter syndrome 2 0 0 1 0 0 1
Bartter disease type 2 1 0 0 0 0 1
Becker muscular dystrophy 1 0 0 0 0 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Cataract 6 multiple types 1 0 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 0 1 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 1 0 0 1
Cerebral cavernous malformation 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A1 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 0 1
Chorea-acanthocytosis 1 0 0 0 0 1
Chromosome 15q11.2 deletion syndrome 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 0 1
Coffin-Siris syndrome 1 0 0 1 0 0 1
Coffin-Siris syndrome 12 0 0 1 0 0 1
Cohen syndrome 1 0 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 1
Combined PSAP deficiency 0 0 1 0 0 1
Combined immunodeficiency, X-linked 1 0 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 11 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 24 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 0 0 1
Congenital adrenal hypoplasia, X-linked 0 0 1 0 0 1
Congenital contractural arachnodactyly 0 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 1 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 0 0 1
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 1 0 0 0 1
Congenital muscular dystrophy due to LMNA mutation 0 1 0 0 0 1
Congenital muscular dystrophy with cataracts and intellectual disability 0 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 1
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 0 0 1 0 0 1
Congenital myasthenic syndrome 3A 0 0 1 0 0 1
Congenital myasthenic syndrome 4A 1 0 0 0 0 1
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 1 0 0 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Crigler-Najjar syndrome type 1 1 0 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 1 0 0 0 0 1
D-6618 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 1
Deficiency of iodide peroxidase 1 0 0 0 0 1
Deficiency of steroid 11-beta-monooxygenase 1 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 0 0 1
Dejerine-Sottas disease 0 0 1 0 0 1
Desmin-related myofibrillar myopathy 0 0 1 0 0 1
Desmoid disease, hereditary 0 0 1 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 53 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 67 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 83 0 0 1 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 1 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 1 0 0 0 0 1
Dias-Logan syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 2A 0 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 0 1
Dyskeratosis congenita, autosomal recessive 5 1 0 0 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 1
Dystonia 30 0 0 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ehlers-Danlos syndrome progeroid type 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 0 1 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 0 0 1
Epidermolysis bullosa pruriginosa 1 0 0 0 0 1
Epidermolysis bullosa simplex 2B, generalized intermediate 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 3 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 0 0 0 1
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 1 0 0 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 4 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 0 1 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 0 1
Fetal akinesia deformation sequence 2 0 0 1 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 1
Frasier syndrome 0 1 0 0 0 1
Fucosidosis 1 0 0 0 0 1
GNPTG-mucolipidosis 1 0 0 0 0 1
GTP cyclohydrolase I deficiency 0 1 0 0 0 1
Gabriele de Vries syndrome 0 0 1 0 0 1
Gaucher disease type III 0 0 1 0 0 1
Geleophysic dysplasia 1 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 7 0 0 1 0 0 1
Glanzmann thrombasthenia 2 0 1 0 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 1
Glucose-6-phosphate transport defect 1 0 0 0 0 1
Glycogen storage disease IXb 0 1 0 0 0 1
Grebe syndrome 0 0 1 0 0 1
Griscelli syndrome type 2 0 1 0 0 0 1
HSD10 mitochondrial disease 0 0 1 0 0 1
Hearing loss, autosomal recessive 112 0 0 1 0 0 1
Hemochromatosis type 1 0 0 1 0 0 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 0 1 0 0 1
Hereditary spastic paraplegia 17 0 1 0 0 0 1
Hereditary spastic paraplegia 2 0 1 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 0 1
Hereditary spastic paraplegia 47 1 0 0 0 0 1
Hereditary spastic paraplegia 63 0 0 1 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 1
Hereditary spherocytosis type 2 0 0 1 0 0 1
Heterotaxy, visceral, 1, X-linked 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 0 0 1 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 0 1
Hypochondroplasia 1 0 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 1 0 0 0 0 1
Hypokalemic periodic paralysis, type 2 1 0 0 0 0 1
Hypomyelinating leukodystrophy 11 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 0 1 0 0 1
Hypospadias 1, X-linked 0 0 1 0 0 1
Hypotrichosis 8 1 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 23 0 1 0 0 0 1
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 1 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 0 0 1 0 0 1
Infantile cortical hyperostosis 0 1 0 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 0 0 1
Intellectual developmental disorder 61 0 1 0 0 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 1 0 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 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, X-linked 108 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, 35 0 1 0 0 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 0 1
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 1 0 0 0 0 1
Intellectual disability, autosomal dominant 29 0 0 1 0 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 0 1
Intellectual disability, autosomal dominant 47 0 0 1 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 0 1
Intellectual disability, autosomal recessive 42 0 0 1 0 0 1
Intellectual disability, autosomal recessive 5 0 1 0 0 0 1
Intellectual disability, autosomal recessive 52 0 1 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 1
Interstitial lung disease due to ABCA3 deficiency 0 0 1 0 0 1
Joubert syndrome 16 0 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1
Kabuki syndrome 2 0 0 1 0 0 1
Kahrizi syndrome 1 0 0 0 0 1
Kleefstra syndrome 1 0 1 0 0 0 1
Klippel-Feil syndrome 3, autosomal dominant 0 0 1 0 0 1
Kufor-Rakeb syndrome 0 0 1 0 0 1
LRFN1 0 1 0 0 0 1
Langer mesomelic dysplasia syndrome 0 0 1 0 0 1