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:

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
432 355 507 1 1 1295

Gene and significance breakdown #

Total genes and gene combinations: 668
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HEXA 29 9 2 0 0 40
GBA1, LOC106627981 13 19 1 0 0 32
GALNS 12 14 3 0 0 29
GAA 14 6 1 0 0 21
SMPD1 13 5 2 0 0 20
GLB1 6 6 4 0 0 16
IDUA 10 6 0 0 0 16
NPC1 8 4 3 0 0 15
MLH1 10 2 2 0 0 14
NAGLU 7 6 0 0 0 13
TPP1 4 8 1 0 0 13
IDS 10 2 0 0 0 12
ARSA 9 1 1 0 0 11
GALC 6 4 1 0 0 11
IDS, LOC106050102 5 4 2 0 0 11
MSH2 7 2 2 0 0 11
SGSH 4 6 1 0 0 11
DMD 5 3 2 0 0 10
DYSF 3 6 1 0 0 10
ARSB 6 1 2 0 0 9
CAPN3 3 3 2 0 0 8
GNPTAB 5 3 0 0 0 8
MECP2 5 2 1 0 0 8
HEXB 5 1 0 0 0 6
NF1 4 1 1 0 0 6
SPG11 2 2 2 0 0 6
TYR 4 2 0 0 0 6
APC 3 0 2 0 0 5
ATM, C11orf65 2 2 1 0 0 5
BRCA2 1 0 4 0 0 5
CFTR 4 0 1 0 0 5
DYNC2H1 1 3 1 0 0 5
SCN2A 3 1 1 0 0 5
ABCB11 0 1 3 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
CIC 0 0 4 0 0 4
COL1A1 1 3 0 0 0 4
COL4A5 1 2 1 0 0 4
COL7A1 3 0 1 0 0 4
CREBBP 0 1 3 0 0 4
FBN1 2 1 1 0 0 4
GLB1, LOC129936434, TMPPE 1 2 1 0 0 4
GNE 4 0 0 0 0 4
KMT2C 0 0 4 0 0 4
LZTR1 1 0 2 1 0 4
MYO7A 1 1 2 0 0 4
PKD1 1 0 3 0 0 4
PPT1 0 4 0 0 0 4
PSAP 1 2 1 0 0 4
RYR1 0 2 2 0 0 4
SCN1A 1 2 1 0 0 4
TRIO 0 0 4 0 0 4
USH2A 1 1 2 0 0 4
ACADVL 1 2 0 0 0 3
ALMS1 0 1 2 0 0 3
AR 1 1 1 0 0 3
ARSB, LOC129994126 3 0 0 0 0 3
ATM 0 1 2 0 0 3
BCORL1 0 0 3 0 0 3
DEPDC5 0 0 3 0 0 3
DNAH1 2 1 0 0 0 3
DOK7 2 0 1 0 0 3
G6PD 1 1 1 0 0 3
GCDH 0 3 0 0 0 3
GLA, RPL36A-HNRNPH2 1 2 0 0 0 3
IDUA, SLC26A1 3 0 0 0 0 3
IL2RG 2 1 0 0 0 3
LAMA2 1 2 0 0 0 3
LMNA 0 1 2 0 0 3
LOC130060903, NAGLU 1 1 1 0 0 3
MED12L 0 0 3 0 0 3
MFSD8 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
PLP1, RAB9B 0 2 1 0 0 3
PMFBP1 2 1 0 0 0 3
POLG 1 1 1 0 0 3
SHANK3 1 0 2 0 0 3
SLC26A4 0 1 2 0 0 3
SPTBN2 0 0 3 0 0 3
SURF1 2 1 0 0 0 3
TBR1 0 0 3 0 0 3
TCF20 0 0 3 0 0 3
TCOF1 1 1 1 0 0 3
TGM1 1 2 0 0 0 3
TNRC6B 0 0 3 0 0 3
TTN 0 2 1 0 0 3
TUBGCP6 0 0 3 0 0 3
ZNF292 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
ACAN 0 0 2 0 0 2
ADGRG1 2 0 0 0 0 2
ALDH4A1 0 1 1 0 0 2
ANKRD11 0 1 1 0 0 2
ANKRD17 0 0 2 0 0 2
AP4B1, PTPN22 0 0 2 0 0 2
APP 0 1 1 0 0 2
ARID2 1 0 1 0 0 2
ASPA, SPATA22 1 0 1 0 0 2
ASPM 1 0 1 0 0 2
ATP7A 1 0 1 0 0 2
BBS10 1 1 0 0 0 2
BMP1 0 0 2 0 0 2
BRAF 1 1 0 0 0 2
BRAT1 0 0 2 0 0 2
BRCA1 2 0 0 0 0 2
CDH23 0 0 2 0 0 2
CHD1 0 0 2 0 0 2
CHD5 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
COL11A2 0 0 2 0 0 2
COL1A2 1 0 1 0 0 2
COL6A1 0 0 2 0 0 2
COL6A2 0 0 2 0 0 2
COL6A3 0 1 1 0 0 2
CR2 0 2 0 0 0 2
CYP27A1 2 0 0 0 0 2
DDHD1 0 0 2 0 0 2
DEAF1 1 0 1 0 0 2
DMXL2 0 0 2 0 0 2
DNAH9 0 0 2 0 0 2
EPCAM, MIR559 0 2 0 0 0 2
EPHA2 1 0 1 0 0 2
ETHE1 1 0 1 0 0 2
FA2H 0 0 2 0 0 2
FAM20C 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
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
HR 0 1 1 0 0 2
HUWE1 0 0 2 0 0 2
HYDIN 0 0 2 0 0 2
KCNQ2 2 0 0 0 0 2
KIF1A 1 0 1 0 0 2
KIF1B 0 0 2 0 0 2
LDLR 0 1 1 0 0 2
LPL 0 1 1 0 0 2
LRP5 0 1 1 0 0 2
MAGEL2 0 1 1 0 0 2
MLC1 0 1 1 0 0 2
MSH6 0 0 2 0 0 2
MTHFR 1 1 0 0 0 2
MTSS2 0 0 2 0 0 2
MUTYH 2 0 0 0 0 2
MYH2, MYHAS 0 0 2 0 0 2
NARS2 0 0 2 0 0 2
NEK8 0 1 1 0 0 2
NEXMIF 0 0 2 0 0 2
NF2 2 0 0 0 0 2
NOTCH3 0 0 2 0 0 2
NPHS1 1 1 0 0 0 2
OCRL 0 2 0 0 0 2
P3H1 2 0 0 0 0 2
PANK2 0 1 1 0 0 2
PCCA 1 0 1 0 0 2
PCDH15 0 0 2 0 0 2
PDE2A 0 0 2 0 0 2
PGAP1 1 0 1 0 0 2
PHKA2 1 1 0 0 0 2
PIGG 1 0 1 0 0 2
PKD2 1 0 1 0 0 2
PKHD1 1 1 0 0 0 2
PLEC 0 0 2 0 0 2
PMS2 1 0 1 0 0 2
POLE 0 0 2 0 0 2
PRDM10 0 0 2 0 0 2
PSEN1 0 0 2 0 0 2
PTS 2 0 0 0 0 2
RAG1 1 1 0 0 0 2
RFX7 0 0 2 0 0 2
RPE65 0 1 1 0 0 2
RPGR 1 1 0 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
SON 0 0 2 0 0 2
SRCAP 1 0 1 0 0 2
SRRM2 0 0 2 0 0 2
SUCLG1 0 0 2 0 0 2
TCF7L2 0 0 2 0 0 2
TNNT3 0 1 1 0 0 2
TOR1A 1 1 0 0 0 2
TP53 2 0 0 0 0 2
TP63 0 1 1 0 0 2
TSC2 0 0 2 0 0 2
TUBB2B 0 1 1 0 0 2
ZNF699 0 2 0 0 0 2
ZSWIM6 0 0 2 0 0 2
AAAS 1 0 0 0 0 1
ABCA3 0 0 1 0 0 1
ABCA4 0 0 1 0 0 1
ABCA4, LOC126805793 1 0 0 0 0 1
ABCA5 0 0 1 0 0 1
ABCC9 0 0 1 0 0 1
ABCD1 0 1 0 0 0 1
ABCD1, PLXNB3 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029312, LOC107986742, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 0 1 0 0 0 1
ABL1 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
ADGRL1 0 0 1 0 0 1
ADO, ANK3, ANK3-DT, ARID5B, ATOH7, CABCOCO1, CCDC6, CDK1, CTNNA3, DNAJC12, EGR2, HERC4, JMJD1C, LINC00845, LINC01515, LINC01553, LINC02621, LINC02625, 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
AGL 0 1 0 0 0 1
AGRN 0 0 1 0 0 1
AHDC1 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
AMH 0 0 1 0 0 1
AMPD2 0 0 1 0 0 1
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 1
ANKLE2 0 1 0 0 0 1
AP1G1 0 0 1 0 0 1
AP4B1 1 0 0 0 0 1
APTX 1 0 0 0 0 1
ARFGEF1 0 0 1 0 0 1
ARG1, MED23 1 0 0 0 0 1
ARID1A 0 0 1 0 0 1
ARL13B 0 0 1 0 0 1
ASL 0 0 1 0 0 1
ASS1 0 1 0 0 0 1
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 1
ATP10A, ATP10A-DT, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L26, GOLGA8S, HERC2, IPW, LINC00929, LINC02250, LINC02346, LOC112272575, LOC112272578, LOC112272579, LOC112272580, LOC121847940, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC126862074, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC128772394, LOC129390675, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC132090298, LOC132090299, MAGEL2, MIR4508, MIR4509-1, MIR4715, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TRE-TTC2-2, TUBGCP5, UBE3A 0 1 0 0 0 1
ATP13A2 0 0 1 0 0 1
ATP1A1 0 0 1 0 0 1
ATP6V0A4 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
BCAP31 0 1 0 0 0 1
BCL11A 0 0 1 0 0 1
BCOR 0 0 1 0 0 1
BDP1 0 0 1 0 0 1
BICRA 0 0 1 0 0 1
BLM 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
BRRIAR, ITPR1 0 0 1 0 0 1
BRWD3 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
CACNA1I 0 0 1 0 0 1
CACNA1S 1 0 0 0 0 1
CAMK2A 0 1 0 0 0 1
CAMK2G 0 0 1 0 0 1
CAMTA1 0 0 1 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
CCDST, FLG 1 0 0 0 0 1
CCN6 1 0 0 0 0 1
CDC42BPB 0 0 1 0 0 1
CDH1 0 0 1 0 0 1
CDH2 0 0 1 0 0 1
CDK13 0 0 1 0 0 1
CDRT7, CDRT8, HS3ST3B1, LINC02096, LOC101928475, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LROMI1, MGC12916, MIR4731, PMP22, TEKT3 0 1 0 0 0 1
CEP290 1 0 0 0 0 1
CHD2 1 0 0 0 0 1
CHD3 1 0 0 0 0 1
CHD4 0 0 1 0 0 1
CHEK2 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
CLTC, LOC125177523 0 0 1 0 0 1
CNGB3 1 0 0 0 0 1
COL12A1 0 0 1 0 0 1
COL4A1 0 1 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 1
COL4A4 0 0 1 0 0 1
COL4A5, COL4A6, LOC126863301 0 1 0 0 0 1
COL4A6 0 0 1 0 0 1
COL5A1 0 0 1 0 0 1
COMP 0 1 0 0 0 1
COQ2 0 0 1 0 0 1
CPT1C 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CTCFL 0 0 1 0 0 1
CTNNB1, LOC126806659 0 1 0 0 0 1
CTSK 0 0 1 0 0 1
CUL3 0 0 1 0 0 1
CUL7 0 0 1 0 0 1
CUX1 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
DES 1 0 0 0 0 1
DHCR7 0 0 1 0 0 1
DIAPH3 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 1
DLX5 0 1 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
DPY19L2 0 0 1 0 0 1
DSG1 0 1 0 0 0 1
DYNC1H1 0 1 0 0 0 1
DYRK1B 0 0 1 0 0 1
EDA 1 0 0 0 0 1
EHMT1 0 1 0 0 0 1
EIF2B1 1 0 0 0 0 1
EIF2B1, LOC126861664 0 1 0 0 0 1
EIF4G1 0 0 1 0 0 1
ELOVL4 0 1 0 0 0 1
EP300 0 0 1 0 0 1
EPB41L1 0 0 1 0 0 1
EPCAM 0 0 1 0 0 1
EPCAM, LOC129933695, MSH2 0 1 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
EYS 0 0 1 0 0 1
F8 1 0 0 0 0 1
FAM83F 0 0 1 0 0 1
FAN1 1 0 0 0 0 1
FARS2, LOC126859565 0 0 1 0 0 1
FBN2 0 0 1 0 0 1
FBXO7 0 0 1 0 0 1
FDXR 0 0 1 0 0 1
FERMT1 0 1 0 0 0 1
FHL1 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
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
GBA1 1 0 0 0 0 1
GBA1, THBS3 0 0 1 0 0 1
GCH1 0 1 0 0 0 1
GCM2 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
GLDC 0 1 0 0 0 1
GLRA2 0 0 1 0 0 1
GLUD1 0 1 0 0 0 1
GLYCTK 0 0 1 0 0 1
GMPPB 0 1 0 0 0 1
GNAI1 0 0 1 0 0 1
GNPTG 1 0 0 0 0 1
GRM1 1 0 0 0 0 1
GUCY2C 0 0 1 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HCFC1 0 0 1 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
IMPDH1 0 1 0 0 0 1
INPP5K 0 0 1 0 0 1
IQSEC2 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
ITPR1 0 0 1 0 0 1
KAT6A 0 0 1 0 0 1
KCNC3 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNH2 0 1 0 0 0 1
KCNJ1 1 0 0 0 0 1
KCNQ1 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
KDM5C 0 1 0 0 0 1
KDM6A 0 0 1 0 0 1
KIF14 0 0 1 0 0 1
KIF22 1 0 0 0 0 1
KIF2A 0 0 1 0 0 1
KLF11 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
LAMB2 0 1 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
LOC105371856, TANC2 0 0 1 0 0 1
LOC108281134, SOX3 0 0 1 0 0 1
LOC110121502, MCS+9.7, RET 1 0 0 0 0 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
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
LRRFIP2, MLH1 0 1 0 0 0 1
LTBP4 1 0 0 0 0 1
MACF1 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
MFN2 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
MPZ 0 0 1 0 0 1
MSTO1 0 0 1 0 0 1
MTMR2 1 0 0 0 0 1
MVP-DT, PRRT2 0 0 1 0 0 1
MYBPC3 0 1 0 0 0 1
NALCN 0 1 0 0 0 1
NDUFAF2 0 0 1 0 0 1
NDUFAF6 1 0 0 0 0 1
NDUFS1 0 0 1 0 0 1
NEB 0 0 1 0 0 1
NEU1 1 0 0 0 0 1
NEUROG1 0 1 0 0 0 1
NGLY1 0 0 1 0 0 1
NIPAL4 1 0 0 0 0 1
NLGN3 0 1 0 0 0 1
NLRC4 0 0 1 0 0 1
NPR2 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
NUDT2 0 0 1 0 0 1
OBSL1 1 0 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
PAH 1 0 0 0 0 1
PC 0 1 0 0 0 1
PCARE 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
PEX10 0 0 1 0 0 1
PGM3 0 1 0 0 0 1
PHF21A 0 0 1 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
PLA2G6 0 1 0 0 0 1
PLCE1 1 0 0 0 0 1
PLOD1 0 1 0 0 0 1
PNKP 0 0 1 0 0 1
PNPLA6 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
PPP1R13L 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
RBM20 0 0 1 0 0 1
RBM5 0 0 1 0 0 1
REL 0 0 1 0 0 1
RERE 0 0 1 0 0 1
RET 0 1 0 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
RNF43 0 0 1 0 0 1
RORA 0 0 1 0 0 1
RORB 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
RRM2B 0 0 1 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
SCN5A 0 1 0 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
SH3TC2 1 0 0 0 0 1
SHOX 0 0 1 0 0 1
SLC17A8 0 0 1 0 0 1
SLC26A2 0 0 1 0 0 1
SLC2A2 1 0 0 0 0 1
SLC37A4 1 0 0 0 0 1
SLC6A1 0 1 0 0 0 1
SLC6A19 0 1 0 0 0 1
SLC6A4 0 1 0 0 0 1
SLC6A8 1 0 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
SMPD4 0 0 1 0 0 1
SNCA 0 0 1 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
SNX10 0 1 0 0 0 1
SNX14 0 1 0 0 0 1
SOD1 0 1 0 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
SPG7 1 0 0 0 0 1
SPTB 0 0 1 0 0 1
SPTBN1 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
STAT6 0 0 1 0 0 1
STK11 0 0 1 0 0 1
STXBP1 0 1 0 0 0 1
SUCLA2 0 0 1 0 0 1
SUMF1 0 1 0 0 0 1
SUPT16H 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
SYNE2 0 1 0 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
TCAP 0 1 0 0 0 1
TCF4 1 0 0 0 0 1
TCHH 0 1 0 0 0 1
TENT5A 0 0 1 0 0 1
TG 0 0 1 0 0 1
TGFB1 1 0 0 0 0 1
THAP1 0 0 1 0 0 1
THOC6 0 1 0 0 0 1
TMEM138 0 1 0 0 0 1
TMPRSS3 0 1 0 0 0 1
TNNI3 0 0 1 0 0 1
TNNT2 0 1 0 0 0 1
TNPO3 0 0 1 0 0 1
TNXB 0 0 1 0 0 1
TOP2B 0 0 1 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
TRRAP 0 0 1 0 0 1
TTR 0 1 0 0 0 1
TULP1 0 0 1 0 0 1
UFSP2 0 1 0 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
UQCRC1 0 0 1 0 0 1
USP45 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
WNT10A 1 0 0 0 0 1
WT1 0 1 0 0 0 1
WWOX 0 0 1 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 0 1 1
ZMYM3 0 0 1 0 0 1
ZNF142 0 0 1 0 0 1
ZNF462 0 0 1 0 0 1
ZPBP 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 694
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Tay-Sachs disease 29 9 2 0 0 40
Mucopolysaccharidosis, MPS-IV-A 14 16 3 0 0 33
Gaucher disease type I 10 13 1 0 0 24
Mucopolysaccharidosis, MPS-II 15 6 2 0 0 23
Glycogen storage disease, type II 14 6 1 0 0 21
Infantile GM1 gangliosidosis 7 8 3 0 0 18
Hurler syndrome 11 6 0 0 0 17
Niemann-Pick disease, type A 9 7 1 0 0 17
Mucopolysaccharidosis, MPS-III-B 8 7 1 0 0 16
Colorectal cancer, hereditary nonpolyposis, type 2 10 3 2 0 0 15
Galactosylceramide beta-galactosidase deficiency 7 5 1 0 0 13
Neuronal ceroid lipofuscinosis 2 4 8 1 0 0 13
Lynch syndrome 1 7 3 2 0 0 12
Mucopolysaccharidosis type 6 9 1 2 0 0 12
Niemann-Pick disease, type C1 7 2 3 0 0 12
Metachromatic leukodystrophy 9 1 1 0 0 11
Mucopolysaccharidosis, MPS-III-A 4 6 1 0 0 11
Gaucher disease type II 4 6 0 0 0 10
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 5 1 0 0 9
Mucolipidosis type II 5 3 0 0 0 8
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
Familial cancer of breast 0 1 5 0 0 6
Neurofibromatosis, type 1 4 1 1 0 0 6
Sandhoff disease 5 1 0 0 0 6
Asphyxiating thoracic dystrophy 3 1 3 1 0 0 5
Developmental and epileptic encephalopathy, 11 3 1 1 0 0 5
Hereditary spastic paraplegia 11 2 1 2 0 0 5
Niemann-Pick disease, type B; Niemann-Pick disease, type A 4 0 1 0 0 5
Rett syndrome 4 1 0 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
Bethlem myopathy 1A 0 1 3 0 0 4
Central core myopathy 0 3 1 0 0 4
Cystic fibrosis 3 0 1 0 0 4
Familial adenomatous polyposis 1 3 0 1 0 0 4
GNE myopathy 4 0 0 0 0 4
Intellectual disability, autosomal dominant 45 0 0 4 0 0 4
Kleefstra syndrome 2 0 0 4 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 C2 3 1 0 0 0 4
Oculocutaneous albinism type 1A 4 0 0 0 0 4
Phelan-McDermid syndrome 1 0 3 0 0 4
Polycystic kidney disease, adult type 1 0 3 0 0 4
Wilson disease 2 1 1 0 0 4
Alstrom syndrome 0 1 2 0 0 3
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 1 1 0 0 3
Autosomal recessive congenital ichthyosis 1 1 2 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 4 0 1 2 0 0 3
Becker muscular dystrophy 2 0 1 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 1 2 1 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 2 0 0 3
Cornelia de Lange syndrome 1 2 0 1 0 0 3
Developmental and epileptic encephalopathy, 42 0 1 2 0 0 3
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 3 0 0 3
Epilepsy, familial focal, with variable foci 1 0 0 3 0 0 3
Fabry disease 1 2 0 0 0 3
Global developmental delay with speech and behavioral abnormalities 0 0 3 0 0 3
Glutaric aciduria, type 1 0 3 0 0 0 3
Intellectual developmental disorder with autism and speech delay 0 0 3 0 0 3
Intellectual developmental disorder, autosomal dominant 64 0 0 3 0 0 3
Lynch syndrome 8 0 2 1 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
Niemann-Pick disease, type B 2 0 1 0 0 3
Nizon-Isidor syndrome 0 0 3 0 0 3
Noonan syndrome 10 1 0 1 1 0 3
Ornithine carbamoyltransferase deficiency 1 0 2 0 0 3
Osteogenesis imperfecta type 6 1 1 1 0 0 3
Osteogenesis imperfecta type I 1 2 0 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
Shukla-Vernon syndrome 0 0 3 0 0 3
Spermatogenic failure 18 2 1 0 0 0 3
Spermatogenic failure 31 2 1 0 0 0 3
Sphingolipid activator protein 1 deficiency 1 2 0 0 0 3
Spinocerebellar ataxia type 5 0 0 3 0 0 3
Treacher Collins syndrome 1 1 1 1 0 0 3
Usher syndrome type 2A 0 1 2 0 0 3
Very long chain acyl-CoA dehydrogenase deficiency 1 2 0 0 0 3
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 0 0 0 0 2
Adrenoleukodystrophy 1 1 0 0 0 2
Alopecia universalis congenita 0 1 1 0 0 2
Arthrogryposis, distal, type 2B2 0 1 1 0 0 2
Autism, susceptibility to, 15 0 1 1 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
Bilateral frontoparietal polymicrogyria 2 0 0 0 0 2
Birt-Hogg-Dube syndrome 2 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 1 1 1 0 0 0 2
Cataract 6 multiple types 1 0 1 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
Charcot-Marie-Tooth disease type 2A1 0 0 2 0 0 2
Cholestanol storage disease 2 0 0 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
Combined immunodeficiency, X-linked 1 1 0 0 0 2
Combined oxidative phosphorylation defect type 24 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 0 0 2
Congenital muscular dystrophy due to LMNA mutation 0 1 1 0 0 2
Congenital myasthenic syndrome 10 2 0 0 0 0 2
DEGCAGS syndrome 0 2 0 0 0 2
Diabetes mellitus type 1 0 0 2 0 0 2
Diamond-Blackfan anemia 1 2 0 0 0 0 2
Ethylmalonic encephalopathy 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
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
Hypercholesterolemia, familial, 1 0 1 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 ocular anomalies and distinctive facial features 0 0 2 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 70 0 1 1 0 0 2
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 72 0 0 2 0 0 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 0 0 2
Intellectual disability, autosomal dominant 24 1 0 1 0 0 2
Intellectual disability, autosomal recessive 42 1 0 1 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
Li-Fraumeni syndrome 1 2 0 0 0 0 2
Lowe syndrome 0 2 0 0 0 2
Lynch syndrome 4 1 0 1 0 0 2
Lynch syndrome 5 0 0 2 0 0 2
Marfan syndrome 1 1 0 0 0 2
Menkes kinky-hair syndrome 1 0 1 0 0 2
Microcephaly 5, primary, autosomal recessive 1 0 1 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
Mitochondrial complex IV deficiency, nuclear type 1 1 1 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 1 0 0 0 2
Myopathy, proximal, and ophthalmoplegia 0 0 2 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 2 0 0 2
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 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
Neurofibromatosis, type 2 2 0 0 0 0 2
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 0 2 0 0 0 2
Osteogenesis imperfecta type 13 0 0 2 0 0 2
Osteogenesis imperfecta type 8 2 0 0 0 0 2
Parenti-mignot neurodevelopmental syndrome 0 0 2 0 0 2
Pelizaeus-Merzbacher disease 0 1 1 0 0 2
Pilarowski-Bjornsson syndrome 0 0 2 0 0 2
Polycystic kidney disease 2 1 0 1 0 0 2
Polycystic kidney disease 4 1 1 0 0 0 2
Primary ciliary dyskinesia 5 0 0 2 0 0 2
Propionic acidemia 1 0 1 0 0 2
Retinitis pigmentosa 20 0 1 1 0 0 2
Schaaf-Yang syndrome 0 1 1 0 0 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 1 1 0 0 0 2
Spermatogenic failure 39 0 0 2 0 0 2
Spinocerebellar ataxia type 15/16 0 0 2 0 0 2
Spinocerebellar ataxia type 40 0 0 2 0 0 2
Spongy degeneration of central nervous system 1 0 1 0 0 2
Syndromic X-linked intellectual disability Lubs type 0 1 1 0 0 2
Tay-Sachs disease, variant AB 0 2 0 0 0 2
Tuberous sclerosis 2 0 0 2 0 0 2
Type 2 diabetes mellitus 0 0 2 0 0 2
Ullrich congenital muscular dystrophy 1A 0 0 2 0 0 2
Usher syndrome type 1 0 1 1 0 0 2
X-linked cone-rod dystrophy 1 1 1 0 0 0 2
X-linked intellectual disability, Cantagrel type 0 0 2 0 0 2
X-linked severe combined immunodeficiency 1 1 0 0 0 2
Xeroderma pigmentosum group A 0 2 0 0 0 2
ZTTK syndrome 0 0 2 0 0 2
15q11q13 microduplication syndrome 0 1 0 0 0 1
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 0 0 1
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
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 1 0 0 1
Abdominal obesity-metabolic syndrome 3 0 0 1 0 0 1
Abnormal sperm morphology; Oligospermia; Reduced sperm motility 0 0 1 0 0 1
Achondrogenesis, type IA 1 0 0 0 0 1
Achondrogenesis, type IB 0 0 1 0 0 1
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Achromatopsia 6 0 0 1 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 0 0 1
Actin accumulation myopathy 0 1 0 0 0 1
Age related macular degeneration 2 0 0 1 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
Amyloidosis, hereditary systemic 1 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 1 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 5 0 1 0 0 0 1
Anauxetic dysplasia 2 0 0 1 0 0 1
Androgen resistance syndrome 1 0 0 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
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 0 1 0 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
Ataxia-hypogonadism-choroidal dystrophy syndrome 0 0 1 0 0 1
Atelosteogenesis type III; Atelosteogenesis type I; 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
Auditory neuropathy-optic atrophy syndrome 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 Alport syndrome 0 1 0 0 0 1
Autosomal dominant Parkinson disease 1 0 0 1 0 0 1
Autosomal dominant auditory neuropathy 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 Alport syndrome 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 2G 0 1 0 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 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 8 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 0 1 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 13 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 20 0 1 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; Duchenne muscular dystrophy 1 0 0 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
Bronchiectasis with or without elevated sweat chloride 1 1 0 0 0 0 1
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 0 0 0 1
CHEK2-related cancer predisposition 0 0 1 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 3 multiple types 0 0 1 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 1
Cerebral amyloid angiopathy, APP-related 0 0 1 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 dominant intermediate D 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1E 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 1 0 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 0 0 1
Chromosome 15q11.2 deletion syndrome 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 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
Colorectal cancer, susceptibility to, 12 0 0 1 0 0 1
Combined PSAP deficiency 0 0 1 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 14 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 contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 0 1
Congenital diarrhea 6 0 0 1 0 0 1
Congenital disorder of deglycosylation 1 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 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 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
Creatine transporter deficiency 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
D-Glyceric aciduria 0 0 1 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 1 0 0 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 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 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 dysmorphic facies and autism 0 0 1 0 0 1
Developmental delay with or without intellectual impairment or behavioral 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 1 0 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 0 1
Diaphyseal dysplasia 1 0 0 0 0 1
Dias-Logan syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 1
Dilated cardiomyopathy 1D 0 1 0 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 0 1
Dilated cardiomyopathy 1O 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 generalized limb-onset dystonia 1 0 0 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
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 1 0 0 0 1
Epidermolysis bullosa pruriginosa 1 0 0 0 0 1
Epidermolysis bullosa simplex 2B, generalized intermediate 0 0 1 0 0 1
Epidermolysis bullosa simplex, Ogna type 0 0 1 0 0 1
Epilepsy with myoclonic atonic seizures 0 1 0 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
FOXG1 disorder 0 1 0 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
Fetal akinesia deformation sequence 3 0 0 1 0 0 1
Fibrochondrogenesis 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
Geleophysic dysplasia 2 1 0 0 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
Gingival fibromatosis-hypertrichosis syndrome 0 0 1 0 0 1
Glanzmann thrombasthenia 2 0 1 0 0 0 1
Global developmental delay with or without impaired intellectual development 0 0 1 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
Glycine encephalopathy 1 0 1 0 0 0 1
Glycogen storage disease IXb 0 1 0 0 0 1
Glycogen storage disease type III 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, X-linked 6 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 30 0 0 1 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 7 1 0 0 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 1 0 0 0 0 1
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections 0 0 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 1 0 0 0 1
Hyperlipidemia, familial combined, LPL related 0 0 1 0 0 1
Hyperlipoproteinemia, type I 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 1 0 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
Hypoparathyroidism, familial isolated, 2 0 1 0 0 0 1
Hypospadias 1, X-linked 0 0 1 0 0 1
Hypotrichosis 8 1 0 0 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 23 0 1 0 0 0 1
Immunodeficiency 92 0 0 1 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 59 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 autistic features and language delay, with or without seizures 0 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 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 or without peripheral neuropathy 0 0 1 0 0 1
Intellectual developmental disorder, X-linked 108 0 0 1 0 0 1
Intellectual developmental disorder, X-linked 112 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 0 1 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 0 1
Intellectual disability, X-linked 93 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 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 56 0 0 1 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 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
Iodotyrosyl coupling defect 0 0 1 0 0 1
Joubert syndrome 16 0 1 0 0 0 1
Joubert syndrome 8 0 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 1 0 0 0 0 1
Kabuki syndrome 2 0 0 1 0 0 1
Kahrizi syndrome 1 0 0 0 0 1
Karyomegalic interstitial nephritis 1 0 0 0 0 1
Kindler syndrome 0 1 0 0 0 1
King Denborough syndrome 0 0 1 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
LZTR1-related schwannomatosis 0 0 1 0 0 1
Langer mesomelic dysplasia syndrome 0 0 1 0 0 1
Lateral meningocele syndrome 0 0 1 0 0 1
Leber congenital amaurosis 11 0 1 0 0 0 1
Leber congenital amaurosis 15 0 0 1 0 0 1
Leber congenital amaurosis 19 0 0 1 0 0 1
Leber congenital amaurosis 6 0 0 1 0 0 1
Left ventricular noncompaction 10 0 1 0 0 0 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 22 0 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 1 1 0 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
Long QT syndrome 2 0 1 0 0 0 1
Lysosomal acid lipase deficiency 0 1 0 0 0 1
MHC class II deficiency 0 1 0 0 0 1
Malignant tumor of esophagus 0 0 1 0 0 1
Maturity-onset diabetes of the young type 1 0 0 1 0 0 1
Maturity-onset diabetes of the young type 7 0 0 1 0 0 1
Meckel syndrome, type 4 1 0 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 0 1
Megaconial type congenital muscular dystrophy 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 0 1 0 0 1
Menke-Hennekam syndrome 2 0 0 1 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Jansen type 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 1
Methylmalonic aciduria, cblB type 1 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 0 1 0 0 1
Microcephalic primordial dwarfism, Alazami type 1 0 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 18, primary, autosomal dominant 0 0 1 0 0 1
Microcephaly, seizures, and developmental delay 0 0 1 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 8a 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 10 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 5 0 0 1 0 0 1
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 0 1 0 0 1
Miyoshi muscular dystrophy 1 0 1 0 0 0 1
Mowat-Wilson syndrome 0 0 1 0 0 1
Moyamoya disease 2 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-I-S 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 0 0 1
Multiple endocrine neoplasia type 2A 0 1 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 4 0 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 9b 0 0 1 0 0 1
Multiple sulfatase deficiency 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0 0 1 0 0 1
Myofibrillar myopathy 5 0 0 1 0 0 1
Myopathy, congenital, with structured cores and z-line abnormalities 0 0 1 0 0 1
Myopathy, reducing body, X-linked, childhood-onset 0 0 1 0 0 1
Nemaline myopathy 9 0 1 0 0 0 1
Nephronophthisis 9 0 1 0 0 0 1
Nephrotic syndrome, type 3 1 0 0 0 0 1
Neu-Laxova syndrome 1 1 0 0 0 0 1
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0 1 0 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 autism or seizures 0 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 0 0 1
Neuronal ceroid lipofuscinosis 5 0 0 1 0 0 1
Neutral 1 amino acid transport defect 0 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 1
Obsessive-compulsive disorder 0 1 0 0 0 1
Oculofaciocardiodental syndrome 0 0 1 0 0 1
Odonto-onycho-dermal dysplasia 1 0 0 0 0 1
Osteogenesis imperfecta type 10 0 0 1 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 0 0 1
Osteogenesis imperfecta, type 18 0 0 1 0 0 1
Osteoporosis with pseudoglioma 0 1 0 0 0 1
PCWH syndrome 0 0 1 0 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 0 1 0 0 0 1
Pancreatic cancer, susceptibility to, 2 0 0 1 0 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 0 0 1
Parkinsonian-pyramidal syndrome 0 0 1 0 0 1
Parkinsonism with polyneuropathy 0 0 1 0 0 1
Partial androgen insensitivity syndrome 0 1 0 0 0 1
Peroxisome biogenesis disorder 6B 0 0 1 0 0 1
Persistent Mullerian duct syndrome 0 0 1 0 0 1
Peutz-Jeghers syndrome 0 0 1 0 0 1
Phenylketonuria 1 0 0 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 1 0 0 0 1
Pierson syndrome 0 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 0 1
Pituitary hormone deficiency, combined, 1 0 1 0 0 0 1
Polycystic kidney disease 8 0 0 1 0 0 1
Polymerase proofreading-related adenomatous polyposis 0 0 1 0 0 1
Polyposis syndrome, hereditary mixed, 2 1 0 0 0 0 1
Pontocerebellar hypoplasia, type 16 0 0 1 0 0 1
Porphobilinogen synthase deficiency 0 0 1 0 0 1
Progeroid and marfanoid aspect-lipodystrophy syndrome 0 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 1 0 0 0 0 1
Progressive myoclonic epilepsy type 3 0 0 1 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 0 1 0 0 0 1
Pyknodysostosis 0 0 1 0 0 1
Pyridoxine-dependent epilepsy 0 1 0 0 0 1
Pyruvate carboxylase deficiency 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 0 1
Retinitis pigmentosa 25 0 0 1 0 0 1
Retinitis pigmentosa 39 1 0 0 0 0 1
Retinitis pigmentosa 40 0 0 1 0 0 1
Retinitis pigmentosa 54 1 0 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 0 1
Salla disease 0 1 0 0 0 1
See cases; Abnormal sperm morphology; Oligospermia 0 0 1 0 0 1
Seizures, benign familial infantile, 2 0 0 1 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 0 1
Seizures, benign familial neonatal, 2 0 0 1 0 0 1
Seizures, early-onset, with neurodegeneration and brain calcifications 0 1 0 0 0 1
Sessile serrated polyposis cancer syndrome 0 0 1 0 0 1
Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 0 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0 1 0 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
Sialic acid storage disease, severe infantile type 0 1 0 0 0 1
Sialidosis type 2 1 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 0 1
Smith-Lemli-Opitz syndrome 0 0 1 0 0 1
Snijders Blok-Campeau syndrome 1 0 0 0 0 1
Sotos syndrome 1 0 0 0 0 1
Spastic ataxia 5 0 1 0 0 0 1
Spermatogenic failure 35 0 0 1 0 0 1
Spermatogenic failure 66 0 0 1 0 0 1
Spermatogenic failure 9 0 0 1 0 0 1
Spinal muscular atrophy with congenital bone fractures 1 1 0 0 0 0 1
Spinocerebellar ataxia type 13 0 0 1 0 0 1
Spinocerebellar ataxia type 19/22 0 0 1 0 0 1
Split hand-foot malformation 1 with sensorineural hearing loss 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, di rocco type 0 1 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 0 1 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 0 1
Temtamy syndrome 1 0 0 0 0 1
Thanatophoric dysplasia, type 2 0 0 1 0 0 1
Thrombocytopenia 1 1 0 0 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 0 0 1 0 0 1
Tibial muscular dystrophy 0 0 1 0 0 1
Timothy syndrome 0 0 1 0 0 1
Torsion dystonia 6 0 0 1 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 1 0 0 1
UDPglucose-4-epimerase deficiency 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 2 0 0 1 0 0 1
Uncombable hair syndrome 3 0 1 0 0 0 1
Urinary bladder, atony of 1 0 0 0 0 1
Usher syndrome type 1F 0 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 0 1 0 0 1
VPS13A-related neurodegenerative disease 1 0 0 0 0 1
Van Maldergem syndrome 1 1 0 0 0 0 1
Vanishing white matter disease 0 1 0 0 0 1
Ververi-Brady syndrome 0 0 1 0 0 1
Weiss-Kruszka syndrome 0 0 1 0 0 1
Williams syndrome 0 1 0 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 0 1 0 0 0 1
beta Thalassemia 1 0 0 0 0 1
not provided 0 0 1 0 0 1

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