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
587 419 208 0 0 1 1208

Gene and significance breakdown #

Total genes and gene combinations: 738
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Gene or gene combination pathogenic likely pathogenic uncertain significance association total
FBN1 8 17 1 0 26
COMP 4 8 0 0 11
COL2A1 3 5 2 0 10
GALNS 5 4 1 0 10
FLNB 6 2 1 0 9
CHST3 1 7 0 0 8
COL1A1 4 4 0 0 8
FGFR3 5 4 0 0 8
GLB1 5 2 1 0 8
ARSA 5 2 0 0 7
CAPN3 4 3 0 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
DMD 6 0 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
ATM, C11orf65 3 0 2 0 5
BTD 2 3 0 0 5
COL10A1, NT5DC1 4 1 0 0 5
GNPTAB 4 0 1 0 5
LAMA2 4 0 1 0 5
MECP2 4 1 0 0 5
PAX3 3 2 0 0 5
SURF1 1 3 1 0 5
TGFBR2 0 5 0 0 5
ASNS, CZ1P-ASNS 0 4 0 0 4
BCL11B 3 1 0 0 4
CFTR 4 0 0 0 4
COL7A1 3 1 0 0 4
CREBBP 3 1 0 0 4
CTSK 3 1 0 0 4
CYP27A1 2 2 0 0 4
EDNRB 1 1 2 0 4
FOXG1 3 1 0 0 4
GBE1 1 3 0 0 4
GJC2 2 0 2 0 4
IDUA 2 2 0 0 4
KCTD7 1 2 1 0 4
MITF 3 1 0 0 4
MTHFR 2 2 0 0 4
NF1 3 1 0 0 4
NPR2 1 2 1 0 4
OCA2 1 3 0 0 4
SERPINF1 2 1 1 0 4
SLC19A3 2 1 1 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
ARG1, MED23 1 1 1 0 3
ATP7A 2 0 1 0 3
ATP7B 2 1 0 0 3
BRCA1 2 0 1 0 3
CC2D2A 0 3 0 0 3
CEP290 1 2 0 0 3
CHD7 3 0 0 0 3
COL1A2 1 1 1 0 3
COL4A3, MFF-DT 3 0 0 0 3
COL6A2 2 1 0 0 3
DYM 3 0 0 0 3
DYSF 2 1 0 0 3
EVC2 2 1 0 0 3
EXT1 1 2 0 0 3
FANCL 3 0 0 0 3
GCDH 3 0 0 0 3
GFAP 2 1 0 0 3
GHR 1 1 1 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
KCNQ2 1 2 0 0 3
KCNT1 2 1 0 0 3
KDM5C 2 1 0 0 3
KMT2A 3 0 0 0 3
LOC100507346, PTCH1 3 0 0 0 3
LRBA 0 0 3 0 3
MYH3 1 3 0 0 3
NAGLU 1 2 0 0 3
NEK1 2 1 0 0 3
NIPBL 1 2 0 0 3
OBSL1 2 0 1 0 3
PAPSS2 1 1 1 0 3
PHEX, PTCHD1 2 1 0 0 3
PIDD1 1 1 1 0 3
PKD1 2 0 1 0 3
POLR2F, SOX10 1 1 1 0 3
POMT2 0 0 3 0 3
SDHB 1 1 1 0 3
SMPD1 3 0 0 0 3
SPINK5 2 0 1 0 3
STXBP1 1 1 1 0 3
TRAPPC12 1 0 2 0 3
TSC2 3 0 0 0 3
XPA 2 1 0 0 3
ZBTB18 1 2 0 0 3
ABCB11 1 0 1 0 2
ABCC6 0 0 2 0 2
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
ASPA, SPATA22 1 1 0 0 2
ASS1 1 1 0 0 2
ATRIP, ATRIP-TREX1, TREX1 0 1 1 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
C19orf12 0 2 0 0 2
C1QA 1 1 0 0 2
CACNA1A 1 1 0 0 2
CCN6 0 2 0 0 2
CLCN1 0 2 0 0 2
CLCN7 1 1 0 0 2
CLCNKB, LOC106501713 2 0 0 0 2
CLN6 0 2 0 0 2
CLPP 1 1 0 0 2
COL27A1 0 0 2 0 2
COL4A4 0 0 2 0 2
COL4A5 2 0 0 0 2
CPLANE1 1 1 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
DUOX2 0 0 2 0 2
DYNC2H1 1 0 1 0 2
EBP 1 1 0 0 2
ECEL1 1 1 0 0 2
EIF2B5 1 1 0 0 2
ERCC8 1 1 0 0 2
FANCA 0 2 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
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
GRIN2B 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
HSD17B4 0 2 0 0 2
IDH1 2 0 0 0 2
INVS 1 0 1 0 2
IQCB1 2 0 0 0 2
KMT2D 0 2 0 0 2
LACC1 0 1 1 0 2
LAMC2 2 0 0 0 2
LMNA 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
LOC126861898, MYH7 2 0 0 0 2
LONP1 0 0 2 0 2
LPAR6, RB1 2 0 0 0 2
LPL 2 0 0 0 2
LRRK1 2 0 0 0 2
MAN1B1 2 0 0 0 2
MCOLN1 0 0 2 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
MYO9A 0 0 2 0 2
NDUFV1 1 1 0 0 2
NEU1 1 1 0 0 2
NOD2 1 1 0 0 2
NSD1 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
PLP1, RAB9B 2 0 0 0 2
PMS2 2 0 0 0 2
POLR1C 1 1 0 0 2
POLR3A 1 1 0 0 2
POMGNT1, TSPAN1 0 2 0 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 1 0 1 0 2
SCN2A 1 1 0 0 2
SCYL1 0 2 0 0 2
SETBP1 1 1 0 0 2
SGCB 1 0 1 0 2
SLC12A3 0 2 0 0 2
SLC13A5 1 0 1 0 2
SLC37A4 2 0 0 0 2
SLC4A1 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
TTC8 1 0 1 0 2
TUBA1A 0 2 0 0 2
TUBB4A 1 1 0 0 2
VARS1 0 0 2 0 2
VDR 1 1 0 0 2
VPS13B 2 0 0 0 2
WDR45 1 0 1 0 2
WFS1 1 1 0 0 2
XPC 2 0 0 0 2
​intergenic 1 0 0 0 1
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
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3K, ZNHIT3 1 0 0 0 1
ABCA12 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 1
ABCD1 1 0 0 0 1
ACAN 1 0 0 0 1
ACOD1, BORA, CLN5, COMMD6, DACH1, DIS3, EDNRB, FBXL3, KCTD12, KLF12, KLF5, LINC00331, LINC00347, LINC00348, LINC00381, LINC00392, LINC00393, LINC00402, LINC00446, LINC00561, LINC01038, LINC01068, LINC01069, LINC01078, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC105370259, LOC105370268, LOC107882127, LOC107882129, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120909, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC124909501, LOC124909502, LOC126861796, LOC126861797, LOC126861798, LOC126861799, LOC126861800, LOC126861801, LOC126861802, LOC126861803, LOC126861804, LOC126861805, LOC126861806, LOC127898562, LOC130009870, LOC130009871, LOC130009872, LOC130009873, LOC130009874, LOC130009875, LOC130009876, LOC130009877, LOC130009878, LOC130009879, LOC130009880, LOC130009881, LOC130009882, LOC130009883, LOC130009884, LOC130009885, LOC130009886, LOC130009887, LOC130009888, LOC130009889, LOC130009890, LOC130009891, LOC130009892, LOC130009893, LOC130009894, LOC130009895, LOC130009896, LOC130009897, LOC130009898, LOC130009899, LOC130009900, LOC130009901, LOC130009902, LOC130009903, LOC130009904, LOC130009905, LOC130009906, LOC130009907, LOC130009908, LOC130009909, LOC130009910, LOC130009911, LOC130009912, LOC130009913, LOC130009914, LOC130009915, LOC130009916, LOC130009917, LOC130009918, LOC130009919, LOC130009920, LOC130009921, LOC130009922, LOC130009923, LOC130009924, LOC130009925, LOC130009926, LOC130009927, LOC130009928, LOC130009929, LOC130009930, LOC130009931, LOC130009932, LOC130009933, LOC130009934, LOC130009935, LOC130009936, LOC130009937, LOC130009938, LOC130009939, LOC130009940, LOC130009941, LOC130009942, LOC130009943, LOC132090198, LOC132090199, LOC132090200, LOC132090201, LOC132090864, LOC780529, MIR3665, MYCBP2, MZT1, NDFIP2, OBI1, PIBF1, POU4F1, RBM26, SCEL, SLAIN1, TBC1D4, UCHL3 1 0 0 0 1
ACSL4 0 0 1 0 1
ACTA1 0 0 1 0 1
ACVR1 1 0 0 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
AHI1 1 0 0 0 1
AHR 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
ALS2 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
APC 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
ASCC1 1 0 0 0 1
ASPM 1 0 0 0 1
ASXL1 1 0 0 0 1
ASXL3 1 0 0 0 1
ATP13A2 1 0 0 0 1
AUTS2 1 0 0 0 1
AVP 0 0 1 0 1
B3GALNT2 0 1 0 0 1
B9D2 0 1 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BBS10 1 0 0 0 1
BBS2 0 0 1 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
BLK 0 0 1 0 1
BMPER 0 0 1 0 1
BMPR2 1 0 0 0 1
BNIP1 0 0 1 0 1
BRCA1, LOC111589215 0 0 1 0 1
BRCA2 0 1 0 0 1
BRWD3 1 0 0 0 1
C14orf39, SIX6 0 1 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
CASR 0 0 1 0 1
CD40LG 1 0 0 0 1
CD79A 0 0 1 0 1
CDKL5 1 0 0 0 1
CEP55 1 0 0 0 1
CFAP96, UFSP2 0 1 0 0 1
CFI 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHAT 0 0 1 0 1
CHD8 1 0 0 0 1
CHEK2 0 1 0 0 1
CHRNA1 0 0 1 0 1
CHST14 0 1 0 0 1
CKAP2L 1 0 0 0 1
CNOT3, LENG1, MBOAT7, PRPF31, TMC4 1 0 0 0 1
COASY 0 1 0 0 1
COG8, LOC130059304 1 0 0 0 1
COL18A1 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 1
COL5A2 0 1 0 0 1
COL6A1 1 0 0 0 1
COL6A3 1 0 0 0 1
COPA 0 0 1 0 1
CPS1 0 1 0 0 1
CREBBP, LOC130058353, LOC130058354, LOC130058355 1 0 0 0 1
CRPPA 0 0 1 0 1
CTNNA2 0 1 0 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, PDE3B 0 1 0 0 1
CYP2U1, SGMS2 1 0 0 0 1
DAP3 0 1 1 0 1
DCX 0 1 0 0 1
DDHD2 0 1 0 0 1
DDX3X 1 0 0 0 1
DEAF1 1 0 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
DPAGT1, LOC126861360 0 0 1 0 1
DSTYK 0 0 1 0 1
DYNC1H1 0 1 0 0 1
DYRK1A 1 0 0 0 1
ECHS1 0 1 0 0 1
EDN3 0 1 0 0 1
EFEMP2 0 1 0 0 1
EFTUD2 0 1 0 0 1
EIF2AK3 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
ETFA 0 1 0 0 1
ETHE1 0 1 0 0 1
EVC 1 0 0 0 1
EXOC2 0 0 1 0 1
EXOC6B 1 0 0 0 1
EYS 0 0 1 0 1
F5 1 0 0 0 1
FAM149B1 0 0 1 0 1
FAS 0 1 0 0 1
FAT4 0 1 0 0 1
FBN1, LOC113939944 0 1 0 0 1
FBN2 0 1 0 0 1
FBP1 0 1 0 0 1
FBXW7 0 1 0 0 1
FERMT1 1 0 0 0 1
FGA 1 0 0 0 1
FGF13 0 1 0 0 1
FGFR1 1 0 0 0 1
FKBP10 0 1 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
G6PD 0 1 0 0 1
GABRA2 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
GH-LCR, SCN4A 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 1
GLI3 1 0 0 0 1
GLIS3 0 1 0 0 1
GMPPB 1 0 1 0 1
GNPNAT1 0 0 1 0 1
GNPTG 0 1 0 0 1
GPC4 0 1 0 0 1
GPHN, PIGH 0 0 1 0 1
GPIHBP1 0 1 0 0 1
GPNMB 1 0 0 0 1
GPX4 0 0 1 0 1
GRIN2A 1 0 0 0 1
GUSB 0 0 1 0 1
H1-4 0 1 0 0 1
H4C3 1 0 0 0 1
HACE1 0 0 1 0 1
HECTD4 0 1 0 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
HMBS 1 0 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
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 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
IL36RN 1 0 0 0 1
INS, INS-IGF2 0 1 0 0 1
IRAK4 0 0 1 0 1
ISCA1 1 1 0 0 1
ITGA3 0 1 0 0 1
ITPA 0 1 0 0 1
IVD 1 0 0 0 1
KANSL1 1 0 0 0 1
KCNJ10 1 0 0 0 1
KCNJ11 1 0 0 0 1
KCNJ2 1 0 0 0 1
KCNK18 1 0 0 0 1
KDM6B 0 1 0 0 1
KIF11 0 0 1 0 1
KIF1A 0 1 0 0 1
KIF26A 0 0 0 1 1
KLHL7 0 0 1 0 1
KMT2B 0 0 1 0 1
KRAS 1 0 0 0 1
KRT14 1 0 0 0 1
KRT6A 0 1 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
LCAT, SLC12A4 0 0 1 0 1
LDLR 1 0 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
LOC125446275, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, MBTPS2, PHEX, SMPX, SMS, YY2 1 0 0 0 1
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 1
LOC126806305, LOC126806306, MALL, NPHP1 1 0 0 0 1
LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 1
LOC126861318, MMP13 1 0 0 0 1
LOC126862983, MGME1 1 0 0 0 1
LOC129992585, SGCB 1 0 0 0 1
LOC129993110, RAB33B 1 0 0 0 1
LOC129994183, LOC129994184, MEF2C 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
LOC130059891, SERPINF1 0 0 1 0 1
LOC130064190, UBA2 1 0 0 0 1
LOC130065345, PANK2 0 1 0 0 1
LOC130067862, SCO2, TYMP 1 0 0 0 1
LRP5 1 0 0 0 1
LRRC45 1 0 0 0 1
LRSAM1 0 0 1 0 1
LYRM7 1 0 0 0 1
MAGEL2 0 1 0 0 1
MAP2K1 0 1 0 0 1
MAP3K7 1 0 0 0 1
MAPKBP1 1 0 0 0 1
MBOAT7 0 1 0 0 1
MC4R 1 0 0 0 1
MED12 0 1 0 0 1
MED13L 1 0 0 0 1
MEF2C 0 1 0 0 1
MEFV 1 0 0 0 1
MEGF8 0 0 1 0 1
MEIS2 0 1 0 0 1
MFSD8 1 0 0 0 1
MINPP1 0 0 1 0 1
MIR1287, PYROXD2 0 0 1 0 1
MMAA 1 0 0 0 1
MMACHC 1 0 0 0 1
MMADHC 1 0 0 0 1
MOCS2 0 1 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
MTM1 0 1 0 0 1
MTSS2 0 1 0 0 1
MTTP 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYO5A 0 0 1 0 1
MYO7A 1 0 0 0 1
MYOD1 1 0 0 0 1
MYPN 0 0 1 0 1
NALCN 1 0 0 0 1
NANS, TRIM14 0 1 0 0 1
NAV3 0 1 0 0 1
NAXD 1 0 0 0 1
NAXE 1 0 0 0 1
NBAS 0 0 1 0 1
NCF2 1 0 0 0 1
NCF4 0 0 1 0 1
NDUFAF2 0 0 1 0 1
NDUFV2 0 0 1 0 1
NEB 1 0 0 0 1
NECTIN4 0 0 1 0 1
NEXMIF 1 0 0 0 1
NFATC2 0 0 1 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
NRXN1 1 0 0 0 1
NUP214 0 0 1 0 1
OCLN 1 0 0 0 1
ODAD1 1 0 0 0 1
OPA3 0 0 1 0 1
OPHN1 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
PAX2 0 0 1 0 1
PAX6 0 0 1 0 1
PCCB 0 1 0 0 1
PCDH12, RNF14 1 0 0 0 1
PCNT 1 0 0 0 1
PDHA1 1 0 0 0 1
PDHX 0 0 1 0 1
PEPD 0 1 0 0 1
PERCC1 0 0 1 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
PHKA2 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
PMM2 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
POU4F3, RBM27-POU4F3 0 0 1 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
PYCR1 1 0 0 0 1
PYGL 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 1 0 0 1
RAPSN 1 0 0 0 1
RARS2 0 1 0 0 1
RB1 1 0 0 0 1
RERE 0 1 0 0 1
RET 1 0 0 0 1
RETREG1 0 0 1 0 1
RIT1 1 0 0 0 1
RMP64 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
RPL3L 1 0 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
RYR1 0 1 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
SCYL2 0 0 1 0 1
SERAC1 1 0 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
SLC1A4 0 0 1 0 1
SLC22A5 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
SLC5A2 0 0 1 0 1
SMARCA2 0 1 0 0 1
SMARCA4 0 1 0 0 1
SMARCD1 1 0 0 0 1
SNAP29 0 1 0 0 1
SNX14 1 0 0 0 1
SOS1 1 0 0 0 1
SOX11 0 1 0 0 1
SPAST 0 1 0 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
TAMM41 0 1 0 0 1
TBC1D24 0 1 0 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
TMEM147 1 0 0 0 1
TMEM163 0 1 0 0 1
TMEM216 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
TOMM7 0 0 1 0 1
TP53 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
TRAPPC6B 0 1 0 0 1
TRAPPC9 1 0 0 0 1
TRIP4 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
TSPAN7 0 1 0 0 1
TUBB3 1 0 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
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 1
UNC13D 0 1 0 0 1
USH1C 0 1 0 0 1
VAC14 0 0 1 0 1
VCP 0 1 0 0 1
VPS13A 0 0 1 0 1
VPS33B 0 1 0 0 1
VPS51 0 0 1 0 1
VPS53 0 0 1 0 1
VRK1 1 0 0 0 1
WAS 1 0 0 0 1
WASF1 1 0 0 0 1
WDR1 0 0 1 0 1
WDR62 0 1 0 0 1
WDR72 1 0 0 0 1
WDR73 1 0 0 0 1
WNT1 1 0 0 0 1
WT1 0 1 0 0 1
WWOX 0 0 1 0 1
XRCC4 0 0 1 0 1
ZBTB24 1 0 0 0 1
ZC4H2 0 1 0 0 1
ZMYM2 1 0 0 0 1
ZMYND10 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 782
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association total
Marfan syndrome 5 14 0 0 19
Mucopolysaccharidosis, MPS-IV-A 6 5 1 0 12
Ataxia-telangiectasia syndrome 8 1 2 0 11
Familial X-linked hypophosphatemic vitamin D refractory rickets 10 1 0 0 11
Infantile GM1 gangliosidosis 7 2 1 0 10
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2 8 0 0 10
Galactosylceramide beta-galactosidase deficiency 3 4 1 0 8
Spondylocarpotarsal synostosis syndrome 5 2 1 0 8
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 7 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2A 4 3 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
Duchenne muscular dystrophy 6 0 0 0 6
Multicentric osteolysis nodulosis arthropathy spectrum 4 1 1 0 6
Sponastrime dysplasia 1 0 5 0 6
Tay-Sachs disease 4 2 0 0 6
Acromesomelic dysplasia 1, Maroteaux type 2 2 1 0 5
Biotinidase deficiency 2 3 0 0 5
Cystic fibrosis 5 0 0 0 5
Loeys-Dietz syndrome 2 0 5 0 0 5
Merosin deficient congenital muscular dystrophy 4 0 1 0 5
Metaphyseal chondrodysplasia, Schmid type 4 1 0 0 5
Osteogenesis imperfecta type 6 2 1 2 0 5
Rett syndrome 3 2 0 0 5
Vanishing white matter disease 1 3 1 0 5
Biotin-responsive basal ganglia disease 2 1 1 0 4
Cholestanol storage disease 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
Hypomyelinating leukodystrophy 2 3 0 1 0 4
Nephronophthisis 1 3 0 1 0 4
Neurofibromatosis, type 1 3 1 0 0 4
Perrault syndrome 1 1 3 0 0 4
Progressive myoclonic epilepsy type 3 1 2 1 0 4
Pyknodysostosis 3 1 0 0 4
Rett syndrome, congenital variant 3 1 0 0 4
Rubinstein-Taybi syndrome due to CREBBP mutations 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
Alexander disease 2 1 0 0 3
Alport syndrome 3b, autosomal recessive 3 0 0 0 3
Arginase deficiency 1 1 1 0 3
Arthrogryposis, renal dysfunction, and cholestasis 1 1 1 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2E 2 0 1 0 3
Bethlem myopathy 1A 2 1 0 0 3
CHARGE syndrome 3 0 0 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 3 0 3
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 3 0 0 3
Cornelia de Lange syndrome 1 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
Fanconi anemia complementation group A 1 2 0 0 3
Glutaric aciduria, type 1 3 0 0 0 3
Hurler syndrome 1 2 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
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 3 0 0 0 3
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 1 1 0 3
Intellectual disability, autosomal dominant 22 1 2 0 0 3
KBG syndrome 2 1 0 0 3
Laron-type isolated somatotropin defect 1 1 1 0 3
Meckel syndrome, type 4 1 2 0 0 3
Menkes kinky-hair syndrome 3 0 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 4 2 1 0 0 3
Mitochondrial complex IV deficiency, nuclear type 1 1 1 1 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
Netherton syndrome 2 0 1 0 3
Neuronal ceroid lipofuscinosis 2 2 1 0 0 3
Osteogenesis imperfecta type I 2 1 0 0 3
Pigmentary pallidal degeneration 0 2 1 0 3
Polycystic kidney disease, adult type 2 0 1 0 3
Propionic acidemia 0 3 0 0 3
Pyridoxine-dependent epilepsy 2 1 0 0 3
Short-rib thoracic dysplasia 6 with or without polydactyly 2 1 0 0 3
Smith-McCort dysplasia 2 1 1 1 0 3
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 1 1 0 3
Syndromic X-linked intellectual disability Claes-Jensen type 2 1 0 0 3
Tuberous sclerosis 2 3 0 0 0 3
Wiedemann-Steiner syndrome 3 0 0 0 3
Wilson disease 2 1 0 0 3
Xeroderma pigmentosum group A 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
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 2 0 0 2
Aicardi-Goutieres syndrome 1 0 1 1 0 2
Aicardi-Goutieres syndrome 3 1 0 1 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 inherited pseudoxanthoma elasticum 0 0 2 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
Bartter disease type 3 2 0 0 0 2
Beta-thalassemia major 2 0 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
Citrullinemia type I 1 1 0 0 2
Cockayne syndrome type 1 1 1 0 0 2
Cohen syndrome 2 0 0 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
Congenital myotonia, autosomal recessive form 0 2 0 0 2
Cutis laxa, autosomal recessive, type 1B 0 2 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 1 0 0 2
Developmental and epileptic encephalopathy, 25 1 0 1 0 2
Developmental and epileptic encephalopathy, 47 1 1 0 0 2
Distal arthrogryposis type 5D 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
Epidermolysis bullosa pruriginosa 1 1 0 0 2
Familial hypokalemia-hypomagnesemia 0 2 0 0 2
Fanconi anemia complementation group L 2 0 0 0 2
Fanconi anemia, complementation group S 0 0 2 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
Gilbert syndrome 2 0 0 0 2
Glucose-6-phosphate transport defect 2 0 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
Hemoglobin E/beta- thalassemia 2 0 0 0 2
Hereditary spastic paraplegia 11 2 0 0 0 2
Hereditary spastic paraplegia 56 1 1 0 0 2
Hyperimmunoglobulin D with periodic fever 1 1 0 0 2
Hyperlipoproteinemia, type I 2 0 0 0 2
Hypertrophic cardiomyopathy 1 2 0 0 0 2
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 2 0 0 0 2
Hypomyelinating leukodystrophy 6 1 1 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 1 0 0 2
Hypotrichosis 8 2 0 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, autosomal dominant 20 1 1 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
Kabuki syndrome 1 0 2 0 0 2
Kniest dysplasia 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
Lissencephaly due to TUBA1A mutation 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
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
Mucolipidosis type IV 0 0 2 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
Neurodegeneration with brain iron accumulation 5 1 0 1 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
Noonan syndrome 7 1 1 0 0 2
Osteogenesis imperfecta 0 1 1 0 2
Osteogenesis imperfecta type 15 1 1 0 0 2
Osteogenesis imperfecta type 5 2 0 0 0 2
Osteogenesis imperfecta type 8 1 1 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 0 0 2
Osteogenesis imperfecta, perinatal lethal 2 0 0 0 2
Osteosclerotic metaphyseal dysplasia 2 0 0 0 2
Perrault syndrome 3 1 1 0 0 2
Phenylketonuria 1 1 0 0 2
Progressive familial intrahepatic cholestasis type 2 1 0 1 0 2
Progressive pseudorheumatoid dysplasia 0 2 0 0 2
Pseudo-Hurler polydystrophy 2 0 0 0 2
Pseudohypoparathyroidism type I A 1 1 0 0 2
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2 0 0 0 2
Rafiq syndrome 2 0 0 0 2
Recessive dystrophic epidermolysis bullosa 2 0 0 0 2
Sandhoff disease 0 0 2 0 2
Senior-Loken syndrome 5 2 0 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 0 0 0 2
Sialidosis type 2 1 1 0 0 2
Sotos syndrome 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
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 2 0 0 2
Thyroid dyshormonogenesis 6 0 0 2 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 II with alopecia 1 1 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 C 2 0 0 0 2
3-Methylglutaconic aciduria type 3 0 0 1 0 1
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
46,XY sex reversal 3 0 1 0 0 1
ACCES syndrome 1 0 0 0 1
ACTA1-related congenital myopathy disorders 0 0 1 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
ALS2-related disorder 0 1 0 0 1
Abetalipoproteinaemia 0 0 1 0 1
Achondrogenesis, type IA 1 0 0 0 1
Acid sphingomyelinase deficiency 1 0 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 1 0 0 0 1
Acute intermittent porphyria 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 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 multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 0 1 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 distal renal tubular acidosis 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 Alport syndrome 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 2T 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 nonsyndromic hearing loss 2 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 spastic paraplegia type 78 1 0 0 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
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Bardet-Biedl syndrome 2 0 0 1 0 1
Basal cell nevus syndrome 1 1 0 0 0 1
Bethlem myopathy 1B 1 0 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
Bone osteosarcoma 0 1 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
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 anomalies - developmental delay - facial dysmorphism syndrome 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
Cardiomyopathy, dilated, 2D 1 0 0 0 1
Cardiospondylocarpofacial syndrome 1 0 0 0 1
Cataract 48 0 1 0 0 1
Central core myopathy 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
Charcot-Marie-Tooth disease type 4K 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
Chorea-acanthocytosis 0 0 1 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 1
Chromosome 2p16.3 deletion syndrome 1 0 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
Coloboma, ocular, autosomal dominant 0 0 1 0 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 1 0 0 1
Combined PSAP deficiency 0 0 1 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 1
Combined oxidative phosphorylation defect type 13 0 1 0 0 1
Combined oxidative phosphorylation deficiency 56 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 insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 0 1
Congenital afibrinogenemia 1 0 0 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1 0 1
Congenital contractural arachnodactyly 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 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 factor V deficiency 1 0 0 0 1
Congenital hyperammonemia, type I 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 nonspherocytic hemolytic anemia 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
Cortical dysplasia, complex, with other brain malformations 9 0 1 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 1 0 0 0 1
Curry-Hall syndrome 0 1 0 0 1
Cutis laxa, X-linked 0 0 1 0 1
Cyclical neutropenia 0 1 0 0 1
DAP3-related disorder 0 1 0 0 1
DPAGT1-congenital disorder of glycosylation 0 0 1 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 0 1 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, 16 0 1 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, 27 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 1
Developmental and epileptic encephalopathy, 31A 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, 78 0 0 1 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, and impaired language 0 1 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 1
Diabetes mellitus, permanent neonatal 4 0 1 0 0 1
Diaphanospondylodysostosis 0 0 1 0 1
Diaphyseal dysplasia 1 0 0 0 1
Diarrhea 11, malabsorptive, congenital 0 0 1 0 1
Dias-Logan syndrome 1 0 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 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
Ectodermal dysplasia-syndactyly syndrome 1 0 0 1 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 1 0 0 0 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 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
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 1 0 0 1
Episodic ataxia type 2 1 0 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 1
Exostoses, multiple, type 1 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
Factor I deficiency 0 1 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 3 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 0 1 0 1
Familial infantile myasthenia 0 0 1 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 D1 0 1 0 0 1
Fanconi-Bickel syndrome 0 1 0 0 1
Fatal multiple mitochondrial dysfunctions syndrome 1 0 0 0 1
Filippi syndrome 1 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Foveal hypoplasia 3 0 1 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 1 1 0 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
Global developmental delay 1 0 0 0 1
Glycine encephalopathy 0 1 0 0 1
Glycogen storage disease IXa1 1 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 0 0 1 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1 0 0 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
Hematuria, benign familial, 1 0 0 1 0 1
Hemochromatosis type 2A 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 0 1 0 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 4 0 1 0 0 1
Hereditary spastic paraplegia 43 0 1 0 0 1
Hereditary spastic paraplegia 47 1 0 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 1
Hereditary spastic paraplegia 54 0 1 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
Hutchinson-Gilford syndrome 1 0 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 0 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2 1 0 0 0 1
Hyperlipidemia, familial combined, LPL related 1 0 0 0 1
Hyperlipoproteinemia, type 1D 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 1 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 1
Hypophosphatemic rickets 1 0 0 0 1
Immunodeficiency 67 0 0 1 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 microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 1 0 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 0 1
Intellectual disability, X-linked 58 0 1 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 29 0 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 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-epilepsy-extrapyramidal syndrome 1 0 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
Isovaleryl-CoA dehydrogenase deficiency 1 0 0 0 1
Joint contractures, osteochondromas, and B-cell lymphoma 0 0 1 0 1
Joubert syndrome 0 0 1 0 1
Joubert syndrome 17 1 0 0 0 1
Joubert syndrome 2 0 1 0 0 1
Joubert syndrome 3 1 0 0 0 1
Joubert syndrome 33 0 1 0 0 1
Joubert syndrome 36 0 0 1 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 disorder 0 1 0 0 1
Keipert syndrome 0 1 0 0 1
Kindler syndrome 1 0 0 0 1
Knobloch syndrome 1 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 1
L-2-hydroxyglutaric aciduria 0 0 1 0 1
LRRC45 associated neurological ciliopathy 1 0 0 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
Lethal multiple pterygium syndrome 0 0 1 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
Li-Fraumeni syndrome 1 1 0 0 0 1
Liberfarb syndrome 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
Lynch syndrome 4 1 0 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 1
MASA syndrome 0 1 0 0 1
MEGF8-related Carpenter syndrome 0 0 1 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
Maturity-onset diabetes of the young type 11 0 0 1 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 with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 1 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
Mismatch repair cancer syndrome 4 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 10 0 0 1 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
Miyoshi muscular dystrophy 1 0 1 0 0 1
Mucopolysaccharidosis type 1 1 0 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 1
Mucopolysaccharidosis type 7 0 0 1 0 1
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 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
NAV3-associated neurodevelopmental disorder 0 1 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
Nemaline myopathy 2 1 0 0 0 1
Neonatal diabetes mellitus with congenital hypothyroidism 0 1 0 0 1
Neonatal severe primary hyperparathyroidism 0 0 1 0 1
Nephronophthisis 16 1 0 0 0 1
Nephronophthisis 20 1 0 0 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, 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 dysmorphic facies and cerebellar hypoplasia 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 0 0 1
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 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
Neuronopathy, distal hereditary motor, autosomal recessive 10 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 A 1 0 0 0 1
Niemann-Pick disease, type B 1 0 0 0 1
Niemann-Pick disease, type C2 0 1 0 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Norum disease 0 0 1 0 1
Oculocutaneous albinism 0 0 1 0 1
Oculopharyngeal muscular dystrophy 1 0 0 0 1
Odontochondrodysplasia 1 0 0 1 0 1
Orofaciodigital syndrome type 6 0 1 0 0 1
Osteochondritis dissecans 1 0 0 0 1
Osteogenesis imperfecta type 11 0 1 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 1
Osteoporosis with pseudoglioma 1 0 0 0 1
PCWH syndrome 0 1 0 0 1
PERCHING syndrome 0 0 1 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 1
PMVK-associated autoinflammatory disorder 0 0 1 0 1
POMT2-related disorder 0 0 1 0 1
PSAP-related disorder 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
PYCR1- related autosomal recessive cutis laxa 1 0 0 0 1
Pachyonychia congenita 3 0 1 0 0 1
Paragangliomas 4 1 0 0 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 0 1
Partington syndrome 1 0 0 0 1
Peeling skin syndrome 1 1 0 0 0 1
Pelizaeus-Merzbacher disease 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
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 12 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 20 1 0 0 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 myositis ossificans 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-TORCH syndrome 1 1 0 0 0 1
Pulmonary hypertension, primary, 1 1 0 0 0 1
Pyle metaphyseal dysplasia 1 0 0 0 1
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 0 1 0 1
Rahman syndrome 0 1 0 0 1
Renal carnitine transport defect 0 0 1 0 1
Renal coloboma syndrome 0 0 1 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 0 1 0 0 1
Retinitis pigmentosa 25 0 0 1 0 1
Retinoblastoma 1 0 0 0 1
Rhizomelic dysplasia, Ain-Naz type 0 0 1 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
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 0 0 1 0 1
STAT3-related early-onset multisystem autoimmune disease 0 1 0 0 1
Schaaf-Yang syndrome 0 1 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Schwartz-Jampel syndrome type 1 0 0 1 0 1
See cases 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 X-linked myotubular myopathy 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 1 0 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
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 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
Spinal muscular atrophy with congenital bone fractures 1 1 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 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
Spondyloepimetaphyseal dysplasia, Missouri type 1 0 0 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 0 0 1 0 1
Sterile multifocal osteomyelitis with periostitis and pustulosis 0 1 0 0 1
Striatonigral degeneration, childhood-onset 0 0 1 0 1
Sulfite oxidase deficiency 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 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
TOMM7-related early onset Leigh disease 0 0 1 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
USH1C-related disorder 0 1 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 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
WFS1-spectrum disorder 0 1 0 0 1
WT1-related disorder 0 1 0 0 1
Waardenburg syndrome type 3 1 0 0 0 1
Waardenburg syndrome type 4A; Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 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
Wieacker-Wolff syndrome 0 1 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 intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1
early-onset neurohypophyseal diabetes insipidus 0 0 1 0 1
pseudo-Pelger-Huet anomaly 1 0 0 0 1

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