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
385 295 431 0 1 1 1112

Gene and significance breakdown #

Total genes and gene combinations: 593
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign risk factor total
HEXA 29 9 2 0 0 40
GALNS 11 13 2 0 0 26
GBA1, LOC106627981 9 12 1 0 0 21
GAA 12 5 1 0 0 18
SMPD1 10 4 2 0 0 16
GLB1 5 6 4 0 0 15
TPP1 4 8 1 0 0 13
NAGLU 6 6 0 0 0 12
NPC1 8 1 3 0 0 12
ARSA 9 1 1 0 0 11
IDUA 9 2 0 0 0 11
SGSH 4 6 1 0 0 11
GALC 5 4 1 0 0 10
IDS, LOC106050102 5 3 2 0 0 10
MLH1 6 2 2 0 0 10
DMD 4 3 2 0 0 9
DYSF 3 5 1 0 0 9
IDS 8 1 0 0 0 9
CAPN3 3 3 2 0 0 8
MECP2 5 2 1 0 0 8
GNPTAB 5 2 0 0 0 7
MSH2 5 0 2 0 0 7
ARSB 4 1 1 0 0 6
HEXB 5 1 0 0 0 6
TYR 4 2 0 0 0 6
DYNC2H1 1 3 1 0 0 5
NF1 4 0 1 0 0 5
SPG11 2 1 2 0 0 5
ABCB11 0 1 3 0 0 4
APC 2 0 2 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
CFTR 3 0 1 0 0 4
CIC 0 0 4 0 0 4
COL4A5 1 2 1 0 0 4
COL7A1 3 0 1 0 0 4
CREBBP 0 1 3 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
PSAP 1 2 1 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
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
BRCA2 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
IL2RG 2 1 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
MED12L 0 0 3 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
PKD1 1 0 2 0 0 3
PMFBP1 2 1 0 0 0 3
POLG 1 1 1 0 0 3
RYR1 0 2 1 0 0 3
TBR1 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
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
ACADVL 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
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
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
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
CYP27A1 2 0 0 0 0 2
DDHD1 0 0 2 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
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
KCNQ2 2 0 0 0 0 2
KIF1B 0 0 2 0 0 2
LDLR 0 1 1 0 0 2
LRP5 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
MUTYH 2 0 0 0 0 2
NARS2 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
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
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
SERPINF1 1 1 0 0 0 2
SETD1A 0 0 2 0 0 2
SETD1B 1 0 1 0 0 2
SHANK3 0 0 2 0 0 2
SLC17A5 0 2 0 0 0 2
SON 0 0 2 0 0 2
SPTBN2 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
SURF1 1 1 0 0 0 2
TCF20 0 0 2 0 0 2
TNNT3 0 1 1 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
ZSWIM6 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
ABCA5 0 0 1 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029312, 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, 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
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
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
ARL13B 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
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
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
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
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
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
CHD2 1 0 0 0 0 1
CHD3 1 0 0 0 0 1
CHD4 0 0 1 0 0 1
CHD5 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
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
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
CTSK 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 1 0 0 0 0 1
DHCR7 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
DPY19L2 0 0 1 0 0 1
DSG1 0 1 0 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 1 0 0 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
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
FAN1 1 0 0 0 0 1
FBN2 0 0 1 0 0 1
FBXO7 0 0 1 0 0 1
FERMT1 0 1 0 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
GLRA2 0 0 1 0 0 1
GLUD1 0 1 0 0 0 1
GLYCTK 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
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
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
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
KDM6A 0 0 1 0 0 1
KIF14 0 0 1 0 0 1
KIF1A 1 0 0 0 0 1
KIF22 1 0 0 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
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
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
LRRFIP2, MLH1 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
MPZ 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
NALCN 0 1 0 0 0 1
NDUFAF6 1 0 0 0 0 1
NEB 0 0 1 0 0 1
NEK8 0 1 0 0 0 1
NEU1 1 0 0 0 0 1
NEUROG1 0 1 0 0 0 1
NEXMIF 0 0 1 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
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
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
PNPLA6 0 0 1 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
PRDM10 0 0 1 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
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
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
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
SNX10 0 1 0 0 0 1
SNX14 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
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
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
TCF4 1 0 0 0 0 1
TCF7L2 0 0 1 0 0 1
TENT5A 0 0 1 0 0 1
TG 0 0 1 0 0 1
THAP1 0 0 1 0 0 1
TMEM138 0 1 0 0 0 1
TMPRSS3 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
TP53 1 0 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
UQCRC1 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 1 0 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: 607
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign risk factor total
Tay-Sachs disease 29 9 2 0 0 40
Mucopolysaccharidosis, MPS-IV-A 13 15 2 0 0 30
Gaucher disease type I 10 10 1 0 0 21
Mucopolysaccharidosis, MPS-II 13 4 2 0 0 19
Glycogen storage disease, type II 12 5 1 0 0 18
Infantile GM1 gangliosidosis 6 8 3 0 0 17
Mucopolysaccharidosis, MPS-III-B 6 6 1 0 0 13
Neuronal ceroid lipofuscinosis 2 4 8 1 0 0 13
Galactosylceramide beta-galactosidase deficiency 6 5 1 0 0 12
Niemann-Pick disease, type A 7 4 1 0 0 12
Colorectal cancer, hereditary nonpolyposis, type 2 6 3 2 0 0 11
Hurler syndrome 9 2 0 0 0 11
Metachromatic leukodystrophy 9 1 1 0 0 11
Mucopolysaccharidosis, MPS-III-A 4 6 1 0 0 11
Niemann-Pick disease, type C1 7 1 3 0 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2B 3 5 1 0 0 9
Mucopolysaccharidosis type 6 7 1 1 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
Lynch syndrome 1 5 0 2 0 0 7
Mucolipidosis type II 5 2 0 0 0 7
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 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
Central core myopathy 0 3 1 0 0 4
Developmental and epileptic encephalopathy, 11 2 1 1 0 0 4
GNE myopathy 4 0 0 0 0 4
Intellectual disability, autosomal dominant 45 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 B; Niemann-Pick disease, type A 4 0 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
Wilson disease 2 1 1 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 1 1 0 0 3
Autism, susceptibility to, 5 0 0 3 0 0 3
Autosomal recessive congenital ichthyosis 1 1 2 0 0 0 3
Becker muscular dystrophy 2 0 1 0 0 3
Bethlem myopathy 1A 0 1 2 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 1 2 1 0 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
Familial adenomatous polyposis 1 2 0 1 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
Kleefstra syndrome 2 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
Nizon-Isidor syndrome 0 0 3 0 0 3
Ornithine carbamoyltransferase deficiency 1 0 2 0 0 3
Osteogenesis imperfecta type 6 1 1 1 0 0 3
Phelan-McDermid syndrome 0 0 3 0 0 3
Pigmentary pallidal degeneration 1 1 1 0 0 3
Polycystic kidney disease, adult type 1 0 2 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
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
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
Breast-ovarian cancer, familial, susceptibility to, 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 myasthenic syndrome 10 2 0 0 0 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 2 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 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
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 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 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 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
Lowe syndrome 0 2 0 0 0 2
Lynch syndrome 5 0 0 2 0 0 2
Menkes kinky-hair syndrome 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
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 1 0 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
Niemann-Pick disease, type B 1 0 1 0 0 2
Noonan syndrome 10 0 1 1 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
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
Retinitis pigmentosa 20 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 40 0 0 2 0 0 2
Spinocerebellar ataxia type 5 0 0 2 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
Ullrich congenital muscular dystrophy 1A 0 0 2 0 0 2
Very long chain acyl-CoA dehydrogenase deficiency 1 1 0 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
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
Abnormal sperm morphology; Oligospermia; Reduced sperm motility 0 0 1 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
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 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
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
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
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 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 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 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
Birt-Hogg-Dube syndrome 2 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
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
Capillary malformation-arteriovenous malformation 2 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 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 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 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
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 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
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 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 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
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 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
Dias-Logan syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1DD 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
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, 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
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
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
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
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
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 61 0 1 0 0 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 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 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 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 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 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 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
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
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
Li-Fraumeni syndrome 1 1 0 0 0 0 1
Li-Fraumeni syndrome 2 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
Marfan syndrome 0 1 0 0 0 1
Maturity-onset diabetes of the young type 1 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
Merosin deficient congenital muscular dystrophy 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Jansen type 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 5, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 0 1 0 0 0 1
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 0 1 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 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 (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, proximal, and ophthalmoplegia 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 1 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 0 1 0 0 1
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and 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 type I 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
Parenti-mignot neurodevelopmental syndrome 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
Pelizaeus-Merzbacher disease 0 1 0 0 0 1
Persistent Mullerian duct syndrome 0 0 1 0 0 1
Peutz-Jeghers syndrome 0 0 1 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
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
Propionic acidemia 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
Retinal cone dystrophy 3A 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
Rett syndrome, congenital variant 0 1 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
Schaaf-Yang syndrome 0 0 1 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
Severe early-childhood-onset retinal dystrophy 1 0 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
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 1 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 0 1 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
Type 2 diabetes mellitus 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
Urinary bladder, atony of 1 0 0 0 0 1
Usher syndrome type 1 0 0 1 0 0 1
Usher syndrome type 1F 0 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 0 1 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 cone-rod dystrophy 1 1 0 0 0 0 1
X-linked intellectual disability, Cantagrel type 0 0 1 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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