ClinVar Miner

Variants from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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 association total
463 336 155 0 0 1 949

Gene and significance breakdown #

Total genes and gene combinations: 584
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Gene or gene combination pathogenic likely pathogenic uncertain significance association total
FBN1 7 14 1 0 22
COMP 4 8 0 0 11
COL2A1 3 5 2 0 10
GALNS 5 4 1 0 10
CHST3 1 7 0 0 8
FGFR3 5 4 0 0 8
GLB1 5 2 1 0 8
ARSA 5 2 0 0 7
COL1A1 3 4 0 0 7
FLNB 6 0 1 0 7
GALC 3 3 1 0 7
PHEX 7 0 0 0 7
PRG4 5 1 1 0 7
ATM 5 1 0 0 6
HEXA 4 2 0 0 6
IDS 4 2 0 0 6
MMP2 4 1 1 0 6
TONSL 1 0 5 0 6
CAPN3 3 2 0 0 5
COL10A1, NT5DC1 4 1 0 0 5
DMD 5 0 0 0 5
LAMA2 4 0 1 0 5
PAX3 3 2 0 0 5
ASNS, CZ1P-ASNS 0 4 0 0 4
BTD 2 2 0 0 4
CFTR 4 0 0 0 4
CTSK 3 1 0 0 4
EDNRB 1 1 2 0 4
GBE1 1 3 0 0 4
GNPTAB 2 1 1 0 4
KCTD7 1 2 1 0 4
MECP2 3 1 0 0 4
MITF 3 1 0 0 4
MTHFR 2 2 0 0 4
NPR2 1 2 1 0 4
OCA2 1 3 0 0 4
TGFBR2 0 4 0 0 4
TPP1 3 1 0 0 4
TRPV4 3 1 0 0 4
ABCC8 2 0 1 0 3
ACAT1 2 1 0 0 3
ALDH7A1 2 1 0 0 3
ANKRD11 2 1 0 0 3
ATP7B 2 1 0 0 3
BCL11B 3 0 0 0 3
CC2D2A 0 3 0 0 3
CEP290 1 2 0 0 3
CYP27A1 1 2 0 0 3
DYM 3 0 0 0 3
EVC2 2 1 0 0 3
FOXG1 2 1 0 0 3
GCDH 3 0 0 0 3
GJC2 1 0 2 0 3
KCNQ2 1 2 0 0 3
KCNT1 2 1 0 0 3
KMT2A 3 0 0 0 3
NAGLU 1 2 0 0 3
OBSL1 2 0 1 0 3
PAPSS2 1 1 1 0 3
POLR2F, SOX10 1 1 1 0 3
SERPINF1 1 1 1 0 3
STXBP1 1 1 1 0 3
SURF1 1 2 0 0 3
TRAPPC12 1 0 2 0 3
ZBTB18 1 2 0 0 3
ACSF3 0 1 1 0 2
ADA2 2 0 0 0 2
ADAMTS13 0 2 0 0 2
AGL 1 0 1 0 2
AGRN 0 0 2 0 2
ARG1, MED23 1 1 0 0 2
ASPA, SPATA22 1 1 0 0 2
ATRX 1 1 0 0 2
AUH 1 1 0 0 2
BMPR1B 0 0 2 0 2
BRAF 1 1 0 0 2
BRAT1 0 0 2 0 2
BRCA1 2 0 0 0 2
C19orf12 0 2 0 0 2
C1QA 1 1 0 0 2
CACNA1A 1 1 0 0 2
CLCN7 1 1 0 0 2
CLN6 0 2 0 0 2
COL1A2 1 1 0 0 2
COL27A1 0 0 2 0 2
COL4A5 2 0 0 0 2
CPLANE1 1 1 0 0 2
CREBBP 2 0 0 0 2
CYP27B1 1 0 1 0 2
CYP2U1 1 1 0 0 2
DARS2 0 2 0 0 2
DKC1 1 1 0 0 2
DOK7 1 1 0 0 2
DYNC2H1 1 0 1 0 2
DYSF 2 0 0 0 2
EBP 1 1 0 0 2
EIF2B5 1 1 0 0 2
ERCC8 1 1 0 0 2
EXT1 1 1 0 0 2
FANCL 2 0 0 0 2
FGF12 1 1 0 0 2
FGF23 0 2 0 0 2
FGFR2 2 0 0 0 2
GALT 1 1 0 0 2
GATAD2B 2 0 0 0 2
GBA1, LOC106627981 1 1 0 0 2
GFAP 1 1 0 0 2
GHR 1 1 0 0 2
GJB2 2 0 0 0 2
GLB1, LOC129936434, TMPPE 2 0 0 0 2
GNAS 1 1 0 0 2
GNE 1 1 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 2
HEXB 0 0 2 0 2
HNRNPH2, RPL36A-HNRNPH2 0 2 0 0 2
HPGD 2 0 0 0 2
IDH1 2 0 0 0 2
IDUA 0 2 0 0 2
INVS 1 0 1 0 2
KDM5C 1 1 0 0 2
LACC1 0 1 1 0 2
LAMC2 2 0 0 0 2
LOC100507346, PTCH1 2 0 0 0 2
LOC101928525, MRPS2 0 1 1 0 2
LOC102724058, SCN1A 2 0 0 0 2
LOC126861242, NDUFV1 1 1 0 0 2
LONP1 0 0 2 0 2
LPL 2 0 0 0 2
LRBA 0 0 2 0 2
LRRK1 2 0 0 0 2
MFN2 2 0 0 0 2
MLC1 2 0 0 0 2
MMAB 0 2 0 0 2
MSTO1 0 1 1 0 2
MVK 1 1 0 0 2
MYH3 1 2 0 0 2
MYO9A 0 0 2 0 2
NDUFV1 1 1 0 0 2
NEK1 1 1 0 0 2
NEU1 1 1 0 0 2
NF1 2 0 0 0 2
NIPBL 0 2 0 0 2
NOD2 1 1 0 0 2
OFD1, TRAPPC2 2 0 0 0 2
P3H1 1 1 0 0 2
PANK2 0 1 1 0 2
PCCA 0 2 0 0 2
PHKG2 1 1 0 0 2
PIBF1 0 1 1 0 2
PLEC 1 1 0 0 2
POLR1C 1 1 0 0 2
POLR3A 1 1 0 0 2
POMGNT1, TSPAN1 0 2 0 0 2
POMT2 0 0 2 0 2
PSAP 1 0 1 0 2
PSTPIP1 2 0 0 0 2
PTH1R 0 0 2 0 2
PYGM 1 1 0 0 2
RAB33B 0 1 1 0 2
RNASEH2C 0 1 1 0 2
SCN2A 1 1 0 0 2
SDHB 0 1 1 0 2
SLC19A3 1 0 1 0 2
SLC37A4 1 1 0 0 2
SLCO2A1 0 1 1 0 2
SPG11 2 0 0 0 2
SRCAP 1 1 0 0 2
STAT3 1 1 0 0 2
SUCLA2 0 2 0 0 2
TBCK 1 1 0 0 2
TCIRG1 2 0 0 0 2
TCOF1 2 0 0 0 2
TF 0 1 1 0 2
TGFBR1 0 2 0 0 2
TMEM67 0 2 0 0 2
TRAPPC4 0 0 2 0 2
TRIP11 1 0 1 0 2
TSC2 2 0 0 0 2
TTC8 1 0 1 0 2
VARS1 0 0 2 0 2
XPA 2 0 0 0 2
AASDH, ADAMTS3, ADGRL3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, CEP135, CHIC2, CLOCK, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, INKILN, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MOB1B, MTHFD2L, MUC7, NAAA, NMU, NOA1, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, PPBP, PPEF2, PRR27, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCFD2, SDAD1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, USP46, USP46-DT, UTP3, YTHDC1 1 0 0 0 1
ABCA12 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 1
ABCB11 0 0 1 0 1
ACAN 1 0 0 0 1
ACSL4 0 0 1 0 1
ADAMTSL2 1 0 0 0 1
ADCY5 0 1 0 0 1
ADGRG1 0 1 0 0 1
ADGRG6 1 0 0 0 1
ADGRV1 1 0 0 0 1
ADPRS 1 0 0 0 1
AFF2 0 1 0 0 1
AFG2A 0 1 0 0 1
AGO1 0 1 0 0 1
AGTPBP1 1 0 0 0 1
AGXT 1 0 0 0 1
AIMP2 0 1 1 0 1
AKT3 1 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB11, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1B, SLX1B-SULT1A4, SPN, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 1
ALG11, UTP14C 0 1 0 0 1
ALG12 0 0 1 0 1
ALOX12B 0 1 0 0 1
ALPL 0 1 0 0 1
AMPD2, LOC126805822 0 1 0 0 1
ANK1 1 0 0 0 1
ANKRD17 0 1 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, LOC129391280, LOC130067392, LOC130067393, LOC130067394, LOC130067395, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 1
ANKS6 1 0 0 0 1
ANTXR2 1 0 0 0 1
AP3B2, CPEB1 1 0 0 0 1
AP4B1 1 0 0 0 1
AP4S1 1 0 0 0 1
ARID1B 1 0 0 0 1
ARSB 0 1 0 0 1
ARV1 1 0 0 0 1
ARX 1 0 0 0 1
ASPM 1 0 0 0 1
ASS1 0 1 0 0 1
ASXL1 1 0 0 0 1
ASXL3 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
ATP7A 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 0 1 0 1
AUTS2 1 0 0 0 1
B3GALNT2 0 1 0 0 1
B9D2 0 1 0 0 1
BBS10 1 0 0 0 1
BCKDHA 0 1 0 0 1
BCL11A 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 1
BCORL1 0 1 0 0 1
BMPER 0 0 1 0 1
BNIP1 0 0 1 0 1
BRCA2 0 1 0 0 1
BRWD3 1 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 1
C6orf15, CDSN, PSORS1C1 1 0 0 0 1
CACNA1G 0 1 0 0 1
CACNA1S 0 0 1 0 1
CANT1 0 0 1 0 1
CARMIL2 1 0 0 0 1
CASK 1 0 0 0 1
CCN6 1 0 0 0 1
CD40LG 1 0 0 0 1
CD79A 0 0 1 0 1
CDKL5 1 0 0 0 1
CFAP96, UFSP2 1 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHD7 1 0 0 0 1
CHD8 1 0 0 0 1
CLCN1 0 1 0 0 1
CLCNKB, LOC106501713 1 0 0 0 1
CLPP 0 1 0 0 1
COG8, LOC130059304 1 0 0 0 1
COL18A1 1 0 0 0 1
COL5A2 0 1 0 0 1
COL6A2 0 1 0 0 1
COL6A3 1 0 0 0 1
COL7A1 1 0 0 0 1
COPA 0 0 1 0 1
CREBBP, LOC130058353, LOC130058354, LOC130058355 1 0 0 0 1
CRPPA 0 0 1 0 1
CTNNB1, LOC126806659 1 0 0 0 1
CYB5R3 0 1 0 0 1
CYFIP2 0 1 0 0 1
CYP11A1 1 0 0 0 1
CYP11B1, LOC106799833 0 1 0 0 1
CYP2R1 0 1 0 0 1
CYP2U1, SGMS2 1 0 0 0 1
DCX 0 1 0 0 1
DEGS1 0 1 0 0 1
DGAT1, LOC130001382, LOC130001383, MIR6848 1 0 0 0 1
DLG4 0 1 0 0 1
DLG4, LOC126862479 1 0 0 0 1
DLL3 1 0 0 0 1
DMXL2 0 0 1 0 1
DNAH5 0 0 1 0 1
DNASE1L3 1 0 0 0 1
DNASE2, LOC117125588 0 0 1 0 1
DNM1 0 1 0 0 1
DOCK7 1 0 0 0 1
DOCK8 0 1 0 0 1
DYNC1H1 0 1 0 0 1
DYRK1A 1 0 0 0 1
ECEL1 1 0 0 0 1
ECHS1 0 1 0 0 1
EDN3 0 1 0 0 1
EFTUD2 0 1 0 0 1
EIF2AK3, LOC101928371 1 0 0 0 1
EIF2B1 0 1 0 0 1
EIF2B1, LOC126861664 0 1 0 0 1
EIF2B3 0 1 0 0 1
EIF2B4, GTF3C2 0 0 1 0 1
ELANE 0 1 0 0 1
ERCC3 0 0 1 0 1
ERCC6 1 0 0 0 1
ESCO2 1 0 0 0 1
ETHE1 0 1 0 0 1
EVC 1 0 0 0 1
EXOC6B 1 0 0 0 1
EYS 0 0 1 0 1
FAS 0 1 0 0 1
FAT4 0 0 1 0 1
FBN1, LOC113939944 0 1 0 0 1
FBN2 0 1 0 0 1
FBP1 0 1 0 0 1
FERMT1 1 0 0 0 1
FGF13 0 1 0 0 1
FGFR1 1 0 0 0 1
FKTN 0 1 0 0 1
FLNA 0 1 0 0 1
FLNC 0 1 0 0 1
FRAS1 1 0 0 0 1
FUCA1, LOC126805661 1 0 0 0 1
G6PC3 0 0 1 0 1
G6PC3, LOC130060959 0 0 1 0 1
GABRG2 0 1 0 0 1
GALC, LOC130056217 0 1 0 0 1
GALNS, LOC126862447 0 1 0 0 1
GALNS, LOC130059762, TRAPPC2L 1 0 0 0 1
GALNT2 0 1 0 0 1
GCDH, LOC117125594 1 0 0 0 1
GCH1 0 1 0 0 1
GCSH, LOC130059495 0 1 0 0 1
GEMIN5 0 0 1 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 1
GLI3 1 0 0 0 1
GMPPB 0 0 1 0 1
GNPTG 0 1 0 0 1
GPHN, PIGH 0 0 1 0 1
GPNMB 1 0 0 0 1
GPX4 0 0 1 0 1
GRIN2A 1 0 0 0 1
HACE1 0 0 1 0 1
HGD 1 0 0 0 1
HHAT 0 0 1 0 1
HIBCH 0 1 0 0 1
HIVEP2 1 0 0 0 1
HJV 0 1 0 0 1
HK1 0 1 0 0 1
HMGCL 1 0 0 0 1
HOXA1 0 1 0 0 1
HOXD13 1 0 0 0 1
HPRT1 1 0 0 0 1
HS2ST1 0 0 1 0 1
HSD17B4 0 1 0 0 1
HSPG2 0 0 1 0 1
HTRA1 0 1 0 0 1
HYDIN 0 0 1 0 1
IDS, LOC106050102 1 0 0 0 1
IFITM5, PGGHG 1 0 0 0 1
IFT52 1 0 0 0 1
IFT81 0 0 1 0 1
IHH 1 0 0 0 1
IL12RB1 1 0 0 0 1
IL21R 1 0 0 0 1
IL2RG 1 0 0 0 1
IRAK4 0 0 1 0 1
ISCA1 1 1 0 0 1
ITPA 0 1 0 0 1
KCNJ10 1 0 0 0 1
KCNJ2 1 0 0 0 1
KCNK18 1 0 0 0 1
KDM6B 0 1 0 0 1
KIF26A 0 0 0 1 1
KLHL7 0 0 1 0 1
KMT2B 0 0 1 0 1
KMT2D 0 1 0 0 1
KRAS 1 0 0 0 1
L1CAM 0 1 0 0 1
L2HGDH 0 0 1 0 1
LAMA3 1 0 0 0 1
LAMB3 0 1 0 0 1
LEMD3 0 1 0 0 1
LIPA 1 0 0 0 1
LMOD3 1 0 0 0 1
LMX1B 1 0 0 0 1
LOC113875037, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PUDP, STS 1 0 0 0 1
LOC123038185, SLCO2A1 0 0 1 0 1
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 1
LOC126806305, LOC126806306, MALL, NPHP1 1 0 0 0 1
LOC126861898, MYH7 1 0 0 0 1
LOC126862983, MGME1 1 0 0 0 1
LOC127814297, POU4F3 0 0 1 0 1
LOC129992585, SGCB 1 0 0 0 1
LOC129993110, RAB33B 1 0 0 0 1
LOC129996517, POLR1C 0 0 1 0 1
LOC129998145, LOC129998146, LOC129998147, SNX10 0 0 1 0 1
LOC130009585, UFM1 1 0 0 0 1
LOC130055497, NFKBIA 1 0 0 0 1
LOC130067862, SCO2, TYMP 1 0 0 0 1
LPAR6, RB1 1 0 0 0 1
LRSAM1 0 0 1 0 1
LYRM7 1 0 0 0 1
MAN1B1 1 0 0 0 1
MAP2K1 0 1 0 0 1
MAP3K7 1 0 0 0 1
MBOAT7 0 1 0 0 1
MED12 0 1 0 0 1
MEF2C 0 1 0 0 1
MEFV 1 0 0 0 1
MEIS2 0 1 0 0 1
MFSD8 1 0 0 0 1
MINPP1 0 0 1 0 1
MMAA 1 0 0 0 1
MMADHC 1 0 0 0 1
MPDU1 0 0 1 0 1
MPLKIP 1 0 0 0 1
MSH2 1 0 0 0 1
MT-ND4 1 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYO5A 0 0 1 0 1
MYOD1 1 0 0 0 1
MYPN 0 0 1 0 1
NANS, TRIM14 0 1 0 0 1
NAXD 1 0 0 0 1
NAXE 1 0 0 0 1
NBAS 0 0 1 0 1
NCF4 0 0 1 0 1
NDUFV2 0 0 1 0 1
NEPRO 1 0 0 0 1
NEXMIF 1 0 0 0 1
NFIX 1 0 0 0 1
NKX6-2 1 0 0 0 1
NLRP12 0 0 1 0 1
NOG 0 0 1 0 1
NOTCH1 1 0 0 0 1
NPC2 0 1 0 0 1
NPHP1 0 0 1 0 1
NPHS1 1 0 0 0 1
NPR2, SPAG8 1 0 0 0 1
NR5A1 0 1 0 0 1
NSD1 1 0 0 0 1
NUP214 0 0 1 0 1
OCLN 1 0 0 0 1
OPA3 0 0 1 0 1
OTOG 1 0 0 0 1
OTX2 0 1 0 0 1
P3H2 1 0 0 0 1
PACS1 1 0 0 0 1
PAH 1 0 0 0 1
PAX6 0 0 1 0 1
PCDH12, RNF14 1 0 0 0 1
PCNT 1 0 0 0 1
PDHA1 1 0 0 0 1
PEPD 0 1 0 0 1
PEX16 0 0 1 0 1
PEX26 1 0 0 0 1
PEX3 0 1 0 0 1
PEX6 0 1 0 0 1
PGAP3 0 1 0 0 1
PHC1 1 0 0 0 1
PHEX, PTCHD1 1 0 0 0 1
PIDD1 1 0 0 0 1
PIEZO2 1 0 0 0 1
PISD 0 1 0 0 1
PLA2G6 1 0 0 0 1
PLAA 0 1 0 0 1
PLP1, RAB9B 1 0 0 0 1
PMVK 0 0 1 0 1
PNKP 1 0 0 0 1
PNPLA8 1 0 0 0 1
PNPT1 0 1 0 0 1
POP1 0 1 0 0 1
POR 0 1 0 0 1
PPT1 0 1 0 0 1
PRDM12 1 0 0 0 1
PRDM5 1 0 0 0 1
PRKACA 0 1 0 0 1
PRMT7 0 1 0 0 1
PTDSS1 1 0 0 0 1
PTEN 1 0 0 0 1
PTH2R 0 1 0 0 1
PTPN11 1 0 0 0 1
PUM1 1 0 0 0 1
PURA 1 0 0 0 1
QRICH1 1 0 0 0 1
RAB18 1 0 0 0 1
RAB27A 1 0 0 0 1
RAB3GAP1 0 1 0 0 1
RAG1 0 0 1 0 1
RAPSN 1 0 0 0 1
RARS2 0 1 0 0 1
RB1 1 0 0 0 1
RET 1 0 0 0 1
RETREG1 0 0 1 0 1
RIT1 1 0 0 0 1
RNF216 1 0 0 0 1
RNF43 0 1 0 0 1
RPIA 0 1 0 0 1
RPL13 0 1 0 0 1
RPS6KA3 1 0 0 0 1
RSPO2 0 1 0 0 1
RSPRY1 0 0 1 0 1
RTTN 0 0 1 0 1
RUNX2 1 0 0 0 1
SACS 1 0 0 0 1
SAMHD1 0 0 1 0 1
SCN1A 1 0 0 0 1
SCUBE3 0 1 0 0 1
SETBP1 0 1 0 0 1
SETD1B 0 1 0 0 1
SETD5 1 0 0 0 1
SFRP4 1 0 0 0 1
SFTPC 0 1 0 0 1
SH2B3 0 0 1 0 1
SHMT2 0 1 0 0 1
SKI 0 1 0 0 1
SKIC3 0 1 0 0 1
SLC12A3 0 1 0 0 1
SLC13A5 0 0 1 0 1
SLC1A4 0 0 1 0 1
SLC25A12 0 0 1 0 1
SLC26A2 0 1 0 0 1
SLC29A3 0 1 0 0 1
SLC2A2 0 1 0 0 1
SLC34A3 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC5A2 0 0 1 0 1
SMARCA2 0 1 0 0 1
SMARCA4 0 1 0 0 1
SMARCD1 1 0 0 0 1
SMPD1 1 0 0 0 1
SNAP29 0 1 0 0 1
SNX14 1 0 0 0 1
SOX11 0 1 0 0 1
SPINK5 0 0 1 0 1
SPR 0 1 0 0 1
SPTB 0 1 0 0 1
SQSTM1 1 0 0 0 1
STRA6 0 1 0 0 1
STXBP2 0 0 1 0 1
SUOX 1 0 0 0 1
TAF1A 0 0 1 0 1
TBCD 0 1 0 0 1
TBXAS1 0 1 0 0 1
TCF12 0 1 0 0 1
TCF4 0 1 0 0 1
TCN2 1 0 0 0 1
TGFB1 1 0 0 0 1
THOC6 0 1 0 0 1
TJP2 1 0 0 0 1
TMEM163 0 1 0 0 1
TMEM94 0 0 1 0 1
TNFAIP3 0 1 0 0 1
TNFRSF11A 1 0 0 0 1
TNFRSF1A 1 0 0 0 1
TPCN2 0 0 1 0 1
TPK1 0 0 1 0 1
TPO 0 1 0 0 1
TPRKB 0 0 1 0 1
TRAPPC9 1 0 0 0 1
TRMT10A 1 0 0 0 1
TRPM6 0 0 1 0 1
TRPS1 0 1 0 0 1
TRRAP 0 0 1 0 1
TUBA1A 0 1 0 0 1
TUBB3 1 0 0 0 1
TUBB4A 0 1 0 0 1
TUBG1 0 1 0 0 1
TXNDC15 1 0 0 0 1
TYR 0 0 1 0 1
UGDH 0 1 0 0 1
VAC14 0 0 1 0 1
VCP 0 1 0 0 1
VDR 1 0 0 0 1
VPS13B 1 0 0 0 1
VPS33B 0 1 0 0 1
VPS51 0 0 1 0 1
VPS53 0 0 1 0 1
WAS 1 0 0 0 1
WASF1 1 0 0 0 1
WDR1 0 0 1 0 1
WDR45 1 0 0 0 1
WDR62 0 1 0 0 1
WDR72 1 0 0 0 1
WFS1 1 0 0 0 1
WNT1 1 0 0 0 1
WWOX 0 0 1 0 1
XRCC4 0 0 1 0 1
ZBTB24 1 0 0 0 1
ZMYND10 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 612
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association total
Marfan syndrome 4 11 0 0 15
Mucopolysaccharidosis, MPS-IV-A 6 5 1 0 12
Infantile GM1 gangliosidosis 7 2 1 0 10
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2 8 0 0 10
Familial X-linked hypophosphatemic vitamin D refractory rickets 8 0 0 0 8
Galactosylceramide beta-galactosidase deficiency 3 4 1 0 8
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 7 0 0 8
Ataxia-telangiectasia syndrome 6 1 0 0 7
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 5 1 1 0 7
Metachromatic leukodystrophy 5 2 0 0 7
Mucopolysaccharidosis, MPS-II 5 2 0 0 7
Achondroplasia 2 4 0 0 6
Multicentric osteolysis nodulosis arthropathy spectrum 4 1 1 0 6
Sponastrime dysplasia 1 0 5 0 6
Spondylocarpotarsal synostosis syndrome 5 0 1 0 6
Tay-Sachs disease 4 2 0 0 6
Acromesomelic dysplasia 1, Maroteaux type 2 2 1 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2A 3 2 0 0 5
Cystic fibrosis 5 0 0 0 5
Duchenne muscular dystrophy 5 0 0 0 5
Merosin deficient congenital muscular dystrophy 4 0 1 0 5
Metaphyseal chondrodysplasia, Schmid type 4 1 0 0 5
Rett syndrome 3 2 0 0 5
Vanishing white matter disease 1 3 1 0 5
Biotinidase deficiency 2 2 0 0 4
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 4 0 0 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2 2 0 0 4
Hypochondroplasia 2 2 0 0 4
Loeys-Dietz syndrome 2 0 4 0 0 4
Progressive myoclonic epilepsy type 3 1 2 1 0 4
Pyknodysostosis 3 1 0 0 4
Spondyloepiphyseal dysplasia congenita 1 1 2 0 4
Tyrosinase-positive oculocutaneous albinism 1 3 0 0 4
Waardenburg syndrome type 1 2 2 0 0 4
Waardenburg syndrome type 4A 1 1 2 0 4
3M syndrome 2 2 0 1 0 3
Arthrogryposis, renal dysfunction, and cholestasis 1 1 1 1 0 3
Cholestanol storage disease 1 2 0 0 3
Deficiency of acetyl-CoA acetyltransferase 2 1 0 0 3
Developmental and epileptic encephalopathy, 14 2 1 0 0 3
Developmental and epileptic encephalopathy, 4 1 1 1 0 3
Dyggve-Melchior-Clausen syndrome 3 0 0 0 3
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 1 0 2 0 3
Ellis-van Creveld syndrome 3 0 0 0 3
Glutaric aciduria, type 1 3 0 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 0 3
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 2 0 3
Hypomyelinating leukodystrophy 11 1 1 1 0 3
Hypomyelinating leukodystrophy 2 2 0 1 0 3
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 3 0 0 0 3
Intellectual disability, autosomal dominant 22 1 2 0 0 3
KBG syndrome 2 1 0 0 3
Meckel syndrome, type 4 1 2 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 4 2 1 0 0 3
Mucolipidosis type II 2 0 1 0 3
Mucopolysaccharidosis, MPS-III-B 1 2 0 0 3
Multiple epiphyseal dysplasia type 1 3 0 0 0 3
Nephronophthisis 1 2 0 1 0 3
Neuronal ceroid lipofuscinosis 2 2 1 0 0 3
Osteogenesis imperfecta type 6 1 1 1 0 3
Osteogenesis imperfecta type I 2 1 0 0 3
Perrault syndrome 1 1 2 0 0 3
Pyridoxine-dependent epilepsy 2 1 0 0 3
Rett syndrome, congenital variant 2 1 0 0 3
Smith-McCort dysplasia 2 1 1 1 0 3
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 1 1 0 3
Wiedemann-Steiner syndrome 3 0 0 0 3
Wilson disease 2 1 0 0 3
3-methylglutaconic aciduria type 1 1 1 0 0 2
Achondrogenesis type II 0 1 1 0 2
Acromesomelic dysplasia 3 0 0 2 0 2
Aicardi-Goutieres syndrome 3 0 1 1 0 2
Alexander disease 1 1 0 0 2
Arginase deficiency 1 1 0 0 2
Asphyxiating thoracic dystrophy 3 1 0 1 0 2
Atransferrinemia 0 1 1 0 2
Autosomal recessive congenital ichthyosis 4B 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 2
Autosomal recessive osteopetrosis 1 2 0 0 0 2
Autosomal recessive osteopetrosis 4 1 1 0 0 2
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 2 0 2
Bardet-Biedl syndrome 8 1 0 1 0 2
Beta-thalassemia major 2 0 0 0 2
Bethlem myopathy 1 1 1 0 0 2
Biotin-responsive basal ganglia disease 1 0 1 0 2
Blau syndrome 1 1 0 0 2
C1Q deficiency 1 1 0 0 2
CODAS syndrome 0 0 2 0 2
Ceroid lipofuscinosis, neuronal, 6A 0 2 0 0 2
Chondrodysplasia punctata 2 X-linked dominant 1 1 0 0 2
Cockayne syndrome type 1 1 1 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 0 2 0 2
Combined malonic and methylmalonic acidemia 0 1 1 0 2
Combined oxidative phosphorylation deficiency 36 0 1 1 0 2
Congenital myasthenic syndrome 8 0 0 2 0 2
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 2 0 0 2
Cornelia de Lange syndrome 1 0 2 0 0 2
Cytochrome-c oxidase deficiency disease 1 1 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 1 0 0 2
Developmental and epileptic encephalopathy, 47 1 1 0 0 2
Dyskeratosis congenita, X-linked 1 1 0 0 2
Eiken syndrome 0 0 2 0 2
Enchondromatosis 2 0 0 0 2
GNE myopathy 1 1 0 0 2
Gaucher disease type II 1 1 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 2 0 0 0 2
Glucose-6-phosphate transport defect 1 1 0 0 2
Glycogen storage disease IXc 1 1 0 0 2
Glycogen storage disease type III 1 0 1 0 2
Glycogen storage disease, type IV 1 1 0 0 2
Glycogen storage disease, type V 1 1 0 0 2
Gorlin syndrome 2 0 0 0 2
Hereditary spastic paraplegia 11 2 0 0 0 2
Hereditary spastic paraplegia 56 1 1 0 0 2
Hurler syndrome 0 2 0 0 2
Hyperimmunoglobulin D with periodic fever 1 1 0 0 2
Hyperlipoproteinemia, type I 2 0 0 0 2
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 2 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 1 0 0 2
Infantile nephronophthisis 1 0 1 0 2
Intellectual developmental disorder 62 1 1 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 0 2 0 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 1 0 0 2
Juvenile arthritis due to defect in LACC1 0 1 1 0 2
Kniest dysplasia 1 1 0 0 2
Laron-type isolated somatotropin defect 1 1 0 0 2
Larsen syndrome 2 0 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 2 0 0 2
Loeys-Dietz syndrome 1 0 2 0 0 2
Meckel syndrome, type 6 0 2 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 2 0 0 0 2
Menkes kinky-hair syndrome 2 0 0 0 2
Metatropic dysplasia 1 1 0 0 2
Methylmalonic aciduria, cblB type 0 2 0 0 2
Microcephaly 5, primary, autosomal recessive 2 0 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 2 0 0 2
Mitochondrial complex 2 deficiency, nuclear type 4 0 1 1 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 2 0 0 2
Myasthenic syndrome, congenital, 24, presynaptic 0 0 2 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome 1 1 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 2 0 2
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 0 2 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 2 0 2
Neurofibromatosis, type 1 2 0 0 0 2
Noonan syndrome 7 1 1 0 0 2
Osteogenesis imperfecta type 15 1 1 0 0 2
Osteogenesis imperfecta type 8 1 1 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 0 0 2
Osteosclerotic metaphyseal dysplasia 2 0 0 0 2
Phenylketonuria 1 1 0 0 2
Pigmentary pallidal degeneration 0 1 1 0 2
Propionic acidemia 0 2 0 0 2
Pseudohypoparathyroidism type I A 1 1 0 0 2
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 2
Sandhoff disease 0 0 2 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 0 0 0 2
Short-rib thoracic dysplasia 6 with or without polydactyly 1 1 0 0 2
Sialidosis type 2 1 1 0 0 2
Spondyloepimetaphyseal dysplasia, Strudwick type 1 1 0 0 2
Spondyloepiphyseal dysplasia tarda, X-linked 2 0 0 0 2
Spondylometaphyseal dysplasia, Kozlowski type 2 0 0 0 2
Spongy degeneration of central nervous system 1 1 0 0 2
Steel syndrome 0 0 2 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 1 1 0 0 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 2 0 0 2
Tuberous sclerosis 2 2 0 0 0 2
Upshaw-Schulman syndrome 0 2 0 0 2
Vasculitis due to ADA2 deficiency 2 0 0 0 2
Vitamin D-dependent rickets, type 1A 1 0 1 0 2
Waardenburg syndrome type 2A 2 0 0 0 2
Waardenburg syndrome type 2E 1 0 1 0 2
X-linked Alport syndrome 2 0 0 0 2
Xeroderma pigmentosum group A 2 0 0 0 2
3-Methylglutaconic aciduria type 3 0 0 1 0 1
46,XY sex reversal 3 0 1 0 0 1
AGO1-related neurodevelopmental disorder 0 1 0 0 1
ALG11-congenital disorder of glycosylation 0 1 0 0 1
ALG12-congenital disorder of glycosylation 0 0 1 0 1
Achondrogenesis, type IA 1 0 0 0 1
Acid sphingomyelinase deficiency 1 0 0 0 1
Acute myeloid leukemia 0 0 1 0 1
Adams-Oliver syndrome 5 1 0 0 0 1
Agammaglobulinemia 3, autosomal recessive 0 0 1 0 1
Aicardi-Goutieres syndrome 1 0 0 1 0 1
Aicardi-Goutieres syndrome 5 0 0 1 0 1
Alkaptonuria 1 0 0 0 1
Amyloidosis, primary localized cutaneous, 3 1 0 0 0 1
Anauxetic dysplasia 2 0 1 0 0 1
Anauxetic dysplasia 3 1 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 1
Angelman syndrome 1 0 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 1 0 0 1
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 1 0 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 1 0 0 0 1
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 1
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 4 1 0 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 0 0 1
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 0 0 1 0 1
Autosomal dominant centronuclear myopathy; Arthrogryposis multiplex congenita 1 0 0 0 1
Autosomal dominant hypophosphatemic rickets 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 18B 1 0 0 0 1
Autosomal recessive osteopetrosis 7 1 0 0 0 1
Autosomal recessive osteopetrosis 8 0 0 1 0 1
Autosomal recessive spinocerebellar ataxia 20 1 0 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Bartter disease type 3 1 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 0 0 1
Bilateral frontoparietal polymicrogyria 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 1
Bohring-Opitz syndrome 1 0 0 0 1
Brachydactyly type A1A 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 1
Brittle cornea syndrome 2 1 0 0 0 1
CARASIL syndrome 0 1 0 0 1
CEDNIK syndrome 0 1 0 0 1
CHARGE association 1 0 0 0 1
COG8-congenital disorder of glycosylation 1 0 0 0 1
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cardioacrofacial dysplasia 1 0 1 0 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 0 1
Cardiospondylocarpofacial syndrome 1 0 0 0 1
Cerebellar ataxia-hypogonadism syndrome 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 2Y 0 1 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 0 1 0 1
Cholestasis, progressive familial intrahepatic, 4 1 0 0 0 1
Chondrodysplasia-pseudohermaphroditism syndrome 0 0 1 0 1
Chondrosarcoma 0 1 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Cleidocranial dysostosis 1 0 0 0 1
Cockayne syndrome type 2 1 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Coffin-Siris syndrome 11 1 0 0 0 1
Cohen syndrome 1 0 0 0 1
Coloboma, ocular, autosomal dominant 0 0 1 0 1
Combined PSAP deficiency 0 0 1 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 0 0 1
Combined oxidative phosphorylation defect type 13 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 1
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 1
Congenital diarrhea 7 with exudative enteropathy 1 0 0 0 1
Congenital disorder of glycosylation, type iit 0 1 0 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 1 0 0 0 1
Congenital myasthenic syndrome 10 1 0 0 0 1
Congenital myasthenic syndrome 11 1 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 1
Congenital sensorineural hearing impairment 1 0 0 0 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 0 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 1 0 0 0 1
Curry-Hall syndrome 0 1 0 0 1
Cutis laxa, autosomal recessive, type 1B 0 1 0 0 1
Cyclical neutropenia 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
Deficiency of cytochrome-b5 reductase 0 1 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 1
Deficiency of iodide peroxidase 0 1 0 0 1
Deficiency of ribose-5-phosphate isomerase 0 1 0 0 1
Deficiency of steroid 11-beta-monooxygenase 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 0 1 0 0 1
Desbuquois dysplasia 1 0 0 1 0 1
Developmental and epileptic encephalopathy 106 1 0 0 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 1
Developmental and epileptic encephalopathy, 23 1 0 0 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 1
Developmental and epileptic encephalopathy, 31 0 1 0 0 1
Developmental and epileptic encephalopathy, 35 0 1 0 0 1
Developmental and epileptic encephalopathy, 38 1 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 1 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 1
Developmental and epileptic encephalopathy, 48 1 0 0 0 1
Developmental and epileptic encephalopathy, 65 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 0 1
Developmental and epileptic encephalopathy, 81 0 0 1 0 1
Developmental and epileptic encephalopathy, 84 0 1 0 0 1
Developmental and epileptic encephalopathy, 90 0 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 1
Diaphanospondylodysostosis 0 0 1 0 1
Diaphyseal dysplasia 1 0 0 0 1
Dias-Logan syndrome 1 0 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 0 0 1
Distal arthrogryposis type 5D 1 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 1 0 0 1
EAST syndrome 1 0 0 0 1
Early infantile epileptic encephalopathy with suppression bursts 1 0 0 0 1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 1 0 0 1
Ectodermal dysplasia and immunodeficiency 2 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 1 0 0 0 1
Epidermolysis bullosa simplex 5C, with pyloric atresia 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 1 0 0 1
Epidermolysis bullosa, junctional 2B, severe 1 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 1 0 0 0 1
Episodic ataxia type 2 1 0 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 1
FGFR2-related craniosynostosis 1 0 0 0 1
FRAXE 0 1 0 0 1
Fabry disease 0 0 1 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial aplasia of the vermis 0 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 0 1 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 1
Familial myelofibrosis 0 0 1 0 1
Familial renal glucosuria 0 0 1 0 1
Fanconi anemia complementation group A 1 0 0 0 1
Fanconi anemia complementation group D1 0 1 0 0 1
Fanconi anemia complementation group L 1 0 0 0 1
Fanconi-Bickel syndrome 0 1 0 0 1
Fatal multiple mitochondrial dysfunctions syndrome 1 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Fraser syndrome 1 1 0 0 0 1
Fructose-biphosphatase deficiency 0 1 0 0 1
Fucosidosis 1 0 0 0 1
GNPTG-mucolipidosis 0 1 0 0 1
GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 1 0 0 1
Galloway-Mowat syndrome 5 0 0 1 0 1
Gaucher disease type I 1 0 0 0 1
Gaucher disease type III 1 0 0 0 1
Geleophysic dysplasia 1 1 0 0 0 1
Geleophysic dysplasia 2 1 0 0 0 1
Ghosal hematodiaphyseal dysplasia 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 0 0 1 0 1
Goldblatt syndrome 0 0 1 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 0 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 1
Griscelli syndrome type 1 0 0 1 0 1
Griscelli syndrome type 2 1 0 0 0 1
H syndrome 0 1 0 0 1
Hemochromatosis type 2A 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 1 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 1
Hereditary spastic paraplegia 0 0 0 1 1
Hereditary spastic paraplegia 2 1 0 0 0 1
Hereditary spastic paraplegia 43 0 1 0 0 1
Hereditary spastic paraplegia 47 1 0 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 1
Human HOXA1 syndromes 0 1 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 1
Hypertrophic cardiomyopathy 1 1 0 0 0 1
Hypertrophic cardiomyopathy 26 0 1 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 1
Hypophosphatemic rickets 1 0 0 0 1
Hypotrichosis 8 1 0 0 0 1
Immunodeficiency 67 0 0 1 0 1
Immunodeficiency, X-linked, with hyper-IgM 1 0 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 0 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 0 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 1
Intellectual disability, X-linked 93 1 0 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 1
Intellectual disability, autosomal dominant 20 0 1 0 0 1
Intellectual disability, autosomal dominant 27 0 1 0 0 1
Intellectual disability, autosomal dominant 29 0 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 1
Intellectual disability, autosomal recessive 57 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 1
Intestinal hypomagnesemia 1 0 0 1 0 1
Joubert syndrome 17 1 0 0 0 1
Joubert syndrome 33 0 1 0 0 1
Joubert syndrome 6 0 1 0 0 1
Joubert syndrome 9 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 1 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 1
KCNK18-related neurodevelopmental disorder 1 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 1
Kabuki syndrome 1 0 1 0 0 1
Kindler syndrome 1 0 0 0 1
Knobloch syndrome 1 0 0 0 1
L-2-hydroxyglutaric aciduria 0 0 1 0 1
Landau-Kleffner syndrome 1 0 0 0 1
Lazy leukocyte syndrome 0 0 1 0 1
Leber optic atrophy 1 0 0 0 1
Leigh syndrome 0 1 0 0 1
Lenz-Majewski hyperostosis syndrome 1 0 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 1
Lethal congenital contracture syndrome 9 1 0 0 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 1
Leukodystrophy, hypomyelinating, 17 0 1 0 0 1
Leukodystrophy, hypomyelinating, 18 0 1 0 0 1
Leukodystrophy, hypomyelinating, 25 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 3 0 1 0 0 1
Liberfarb syndrome 0 1 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 0 1
Lymphatic malformation 3 0 0 1 0 1
Lysosomal acid lipase deficiency 1 0 0 0 1
MASA syndrome 0 1 0 0 1
MPDU1-congenital disorder of glycosylation 0 0 1 0 1
MYPN-related myopathy 0 0 1 0 1
Macrocephaly-autism syndrome 1 0 0 0 1
Maffucci syndrome 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 1
Maple syrup urine disease 0 1 0 0 1
Marshall-Smith syndrome 1 0 0 0 1
Matthew-Wood syndrome 0 1 0 0 1
Meckel syndrome, type 10 0 1 0 0 1
Meckel syndrome, type 3 0 1 0 0 1
Meckel-Gruber syndrome 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 1 0 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 1 0 1
Microcephaly 11, primary, autosomal recessive 1 0 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 0 1
Microcephaly, seizures, and developmental delay 1 0 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 1 0 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 1 0 0 1
Mismatch repair cancer syndrome 2 1 0 0 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 1
Mitochondrial DNA depletion syndrome 11 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 7 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 8 1 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 1 0 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 1 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 1
Multiple congenital exostosis 1 0 0 0 1
Multiple epiphyseal dysplasia type 4 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 5 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 0 0 1
Myopia, high, with cataract and vitreoretinal degeneration 1 0 0 0 1
NAD(P)HX dehydratase deficiency 1 0 0 0 1
NLRP12-associated autoinflammatory disease 0 0 1 0 1
Nail-patella syndrome 1 0 0 0 1
Nemaline myopathy 10 1 0 0 0 1
Nephronophthisis 16 1 0 0 0 1
Netherton syndrome 0 0 1 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 0 0 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 0 1
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 0 1 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 0 1
Neurofacioskeletal syndrome with or without renal agenesis 0 0 1 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 1
Neuronal ceroid lipofuscinosis 7 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 0 0 1 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 1
Niemann-Pick disease, type C2 0 1 0 0 1
Non-ketotic hyperglycinemia 0 1 0 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Oculocutaneous albinism 0 0 1 0 1
Oculopharyngeal muscular dystrophy 1 0 0 0 1
Orofaciodigital syndrome type 6 0 1 0 0 1
Osteochondritis dissecans 1 0 0 0 1
Osteogenesis imperfecta 0 1 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 1 0 0 0 1
PCWH syndrome 0 1 0 0 1
PERCHING syndrome 0 0 1 0 1
PMVK-associated autoinflammatory disorder 0 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Partington syndrome 1 0 0 0 1
Peeling skin syndrome 1 1 0 0 0 1
Peroxisome biogenesis disorder 10A (Zellweger) 0 1 0 0 1
Peroxisome biogenesis disorder 2B 0 1 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 1 0 0 0 1
Peroxisome biogenesis disorder 8B 0 0 1 0 1
Perrault syndrome 3 0 1 0 0 1
Pfeiffer syndrome 1 0 0 0 1
Piebaldism 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 1
Pontocerebellar hypoplasia type 2E 0 0 1 0 1
Pontocerebellar hypoplasia type 6 0 1 0 0 1
Pontocerebellar hypoplasia type 9 0 1 0 0 1
Pontocerebellar hypoplasia, type 13 0 0 1 0 1
Pontocerebellar hypoplasia, type 16 0 0 1 0 1
Primary ciliary dyskinesia 22 1 0 0 0 1
Primary ciliary dyskinesia 3 0 0 1 0 1
Primary ciliary dyskinesia 5 0 0 1 0 1
Primary dilated cardiomyopathy 0 0 1 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 2 0 0 1 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 0 1 0 1
Prolidase deficiency 0 1 0 0 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 1
Proximal symphalangism 1A 0 0 1 0 1
Pseudo-Hurler polydystrophy 0 1 0 0 1
Pseudo-TORCH syndrome 1 1 0 0 0 1
Pyle metaphyseal dysplasia 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Rafiq syndrome 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 0 0 1
Retinitis pigmentosa 25 0 0 1 0 1
Retinoblastoma 1 0 0 0 1
Roberts-SC phocomelia syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome 1 0 0 0 1
SCN2A-mediated disorder 0 1 0 0 1
STAT3-related early-onset multisystem autoimmune disease 0 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Schwartz-Jampel syndrome type 1 0 0 1 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 1
Sessile serrated polyposis cancer syndrome 0 1 0 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 1 0 1
Severe early-onset axonal neuropathy due to MFN2 deficiency 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 1 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 0 0 1
Short stature, microcephaly, and endocrine dysfunction 0 0 1 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 1
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 0 0 1 0 1
Short-rib thoracic dysplasia 16 with or without polydactyly 1 0 0 0 1
Short-rib thoracic dysplasia 19 with or without polydactyly 0 0 1 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 1
Shukla-Vernon syndrome 0 1 0 0 1
Skin/hair/eye pigmentation, variation in, 10 0 0 1 0 1
Sotos syndrome 1 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 1
Spastic paraplegia 52, autosomal recessive 1 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 1 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 0 1 0 1
Sphingolipid activator protein 1 deficiency 1 0 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 1 0 0 1
Spinocerebellar ataxia 47 1 0 0 0 1
Spondylocostal dysostosis 1, autosomal recessive 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Genevieve type 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 0 1 0 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 0 0 1 0 1
Striatonigral degeneration, childhood-onset 0 0 1 0 1
Sulfite oxidase deficiency 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 1
Syndromic intellectual disability 0 1 0 0 1
Syndromic microphthalmia type 5 0 1 0 0 1
Synpolydactyly type 1 1 0 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 1
Tetraamelia syndrome 2 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 1
Transcobalamin II deficiency 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Trichohepatoenteric syndrome 1 0 1 0 0 1
Trichorhinophalangeal dysplasia type I 0 1 0 0 1
Trichothiodystrophy 2, photosensitive 0 0 1 0 1
Trichothiodystrophy 4, nonphotosensitive 1 0 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 2 0 1 0 0 1
UFSP2-related neurodevelopmental disorder 0 1 0 0 1
Usher syndrome type 2C 1 0 0 0 1
Ververi-Brady syndrome 1 0 0 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 1 0 0 1
Vitamin D-dependent rickets type II with alopecia 1 0 0 0 1
Waardenburg syndrome type 3 1 0 0 0 1
Waardenburg syndrome type 4B 0 1 0 0 1
Waardenburg syndrome type 4C 1 0 0 0 1
Warburg micro syndrome 1 0 1 0 0 1
Warburg micro syndrome 3 1 0 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 1
Wolfram syndrome 1 1 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1

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