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
472 340 157 0 0 1 964

Gene and significance breakdown #

Total genes and gene combinations: 594
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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
BCL11B 3 1 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
SERPINF1 2 1 1 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
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
SLC19A3 2 0 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
HK1 1 1 0 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
PHEX, PTCHD1 2 0 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
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
ABCD1 1 0 0 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
AHDC1 0 1 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
BMPR2 1 0 0 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
DAP3 0 0 1 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
DNMBP 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
FAM149B1 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
GRIN2B 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
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
IL1RN 0 1 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
LMNA 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
MMACHC 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
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: 623
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 9 0 0 0 9
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
Osteogenesis imperfecta type 6 2 1 1 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
Biotin-responsive basal ganglia disease 2 0 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 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 1A 1 1 0 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
Charcot-Marie-Tooth disease type 4G 1 1 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
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 complex IV deficiency, nuclear type 1 1 1 0 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
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 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
Adrenoleukodystrophy 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
BCL11B-related disorder 0 1 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
Cataract 48 0 1 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
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
Cobalamin C disease 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