ClinVar Miner

Variants from GenomeConnect, ClinGen

Location: United States — Primary collection method: phenotyping only
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 not provided total
0 0 0 0 0 1025 1025

Gene and significance breakdown #

Total genes and gene combinations: 722
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Gene or gene combination not provided total
BRCA2 13 13
TTN 13 13
​intergenic 10 10
ABCA4 10 10
COL3A1 8 8
POLG 8 8
LAMA2 7 7
MYBPC3 7 7
CHEK2 6 6
CPS1 6 6
MSH2 6 6
PMS2 6 6
ATP7B 5 5
COL11A2 5 5
COL1A2 5 5
DMD 5 5
MT-ATP6 5 5
PKHD1 5 5
RYR1 5 5
ATM, C11orf65 4 4
CASK 4 4
COL5A1 4 4
COL5A2 4 4
FBN1 4 4
FLNA 4 4
MEF2C 4 4
NAGS 4 4
SPAST 4 4
STXBP1 4 4
VPS13B 4 4
ACADS 3 3
ANO5 3 3
APC 3 3
ASXL3 3 3
B4GALT7 3 3
BRCA1 3 3
CACNA1H 3 3
CFTR 3 3
COL6A2 3 3
DARS2 3 3
DYSF 3 3
ENO3 3 3
GLA, RPL36A-HNRNPH2 3 3
LMNA 3 3
LRP2 3 3
MAP2K2 3 3
MYH9 3 3
NOTCH1 3 3
OPA1 3 3
PAH 3 3
PFKM 3 3
PIGT 3 3
POMT2 3 3
PYGM 3 3
SCN2A 3 3
SCN5A 3 3
SLC6A1 3 3
SPG7 3 3
TPP1 3 3
ABCC6 2 2
ACO2 2 2
AHDC1 2 2
ALDH5A1 2 2
ALMS1 2 2
ALPL 2 2
ANK2 2 2
ANKRD11 2 2
ATM 2 2
ATP13A2 2 2
BRAF 2 2
CACHD1 2 2
CACNA1A 2 2
CACNA1C 2 2
CACNA1G 2 2
CASR 2 2
CDH23 2 2
CDK5RAP2 2 2
CHD2 2 2
CHN1 2 2
CHRNA7 2 2
COL1A1 2 2
COL4A1 2 2
COL6A1 2 2
CYP17A1 2 2
DCTN1 2 2
DDOST 2 2
DDX11 2 2
DEPDC5 2 2
DHCR7 2 2
DNMT3A 2 2
DOCK8 2 2
EARS2 2 2
EIF2B2 2 2
ELP2 2 2
ELP3 2 2
EMC1 2 2
EPS8 2 2
FANCM 2 2
FASN 2 2
FERMT1 2 2
FLCN 2 2
FLG 2 2
FLNC 2 2
GATAD2B 2 2
GBE1 2 2
GNB5 2 2
GOLGA6L6 2 2
GOSR2, LRRC37A2 2 2
GRIA1 2 2
GRIN1 2 2
GRIN2B 2 2
HRAS, LRRC56 2 2
KCNE1, KCNE2, RCAN1, SMIM11A 2 2
KCNH2 2 2
KIF1A 2 2
KLF8 2 2
KMT2D 2 2
LAMA1 2 2
LDLR 2 2
LMBRD1 2 2
LOXHD1 2 2
LRP1 2 2
LRRK1 2 2
LRSAM1 2 2
MARS1 2 2
MBD5 2 2
MECR 2 2
MLH1 2 2
MPZ 2 2
MRPL44 2 2
MSH6 2 2
MSRB3 2 2
MT-CYB 2 2
MT-ND2 2 2
MT-ND4 2 2
MT-RNR1 2 2
MYH11 2 2
MYO7A 2 2
NF1 2 2
OCA2 2 2
OTOGL 2 2
PALB2 2 2
PAX6 2 2
PDE6B 2 2
PHIP 2 2
PIGO 2 2
PKD1 2 2
PLEC 2 2
POLD1 2 2
POLE 2 2
PRMT7 2 2
RYR3 2 2
SACS 2 2
SARS2 2 2
SCN1A 2 2
SCN1B 2 2
SCN8A 2 2
SETBP1 2 2
SHANK3 2 2
SLC2A1 2 2
SLC4A1 2 2
SMAD3 2 2
SPANXA1, SPANXA2 2 2
SPTBN2 2 2
STAT1 2 2
STK11 2 2
TCF12 2 2
TERT 2 2
TGFBR2 2 2
TSC2 2 2
TSPEAR 2 2
UNC80 2 2
WDR45 2 2
WFS1 2 2
ZFHX4 2 2
ZNF335 2 2
ZNF469 2 2
ZNF595 2 2
ZSWIM6 2 2
AARS1 1 1
ABAT 1 1
ABCB4 1 1
ABCC1 1 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 1 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1, NOMO3, XYLT1 1 1
ABCC9 1 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, CARS2, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, FAM155A, GAS6, GRTP1, ING1, IRS2, LAMP1, LIG4, LINC00565, LINC00567, MCF2L, MYO16, NAXD, PCID2, PROZ, RAB20, RASA3, SOX1, SPACA7, TEX29, TFDP1, TMCO3, TMEM255B, TNFSF13B, TUBGCP3, UPF3A 1 1
ACAD8 1 1
ACADM 1 1
ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAJB4, DNASE2B, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TCTEX1D1, TNNI3K, TTLL7, TYW3, USP33, WDR63, WDR78, WLS, ZNHIT6, ZRANB2, ZZZ3 1 1
ACBD6, LHX4 1 1
ACD 1 1
ACKR3 1 1
ACOT2 1 1
ACP5, ANGPTL8, AP1M2, ATG4D, C19orf38, CARM1, CCDC151, CCDC159, CDKN2D, CNN1, DHPS, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FBXW9, ILF3, KANK2, KRI1, LDLR, MAN2B1, MIR199A1, PRKCSH, QTRT1, RAB3D, RGL3, SLC44A2, SMARCA4, SPC24, SWSAP1, TIMM29, TMED1, TMEM205, TNPO2, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101927817, LOC101928737, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZFPM1, ZNF469, ZNF778 1 1
ACSF3, APRT, CBFA2T3, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469 1 1
ACSM5 1 1
ACTG2 1 1
ACTN2 1 1
ACVR2A, MBD5, ORC4 1 1
ACYP1, NPC2 1 1
ADAM28, ADAM7, ADAMDEC1, ADRA1A, ASAH1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FAM160B2, FBXO16, FGF17, FGL1, FZD3, GFRA2, GNRH1, GSR, GTF2E2, HMBOX1, HR, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LOC101929066, LOXL2, LPL, LZTS1, MBOAT4, MIR320A, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NRG1, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, PNOC, POLR3D, PPP2CB, PPP2R2A, PPP3CC, PSD3, PTK2B, PURG, R3HCC1, RBPMS, REEP4, RHOBTB2, SARAF, SCARA3, SCARA5, SFTPC, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SMIM18, SORBS3, STC1, STMN4, TEX15, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, UBXN8, VPS37A, WRN, XPO7, ZDHHC2, ZNF395 1 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, FAM228A, FAM228B, FKBP1B, ITSN2, MFSD2B, NCOA1, PFN4, POMC, PTRHD1, SF3B6, TP53I3, WDCP 1 1
ADORA2A, CRYBB2, CRYBB3, GGT1, GRK3, GUCD1, KIAA1671, LRP5L, LRRC75B, PIWIL3, SGSM1, SNRPD3, SPECC1L, TMEM211, UPB1 1 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, ODF3L1, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1 1
AGL 1 1
AGO2, CHRAC1, TRAPPC9 1 1
AGTPBP1 1 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, C1orf194, CELSR2, CLCC1, CSF1, CYB561D1, ELAPOR1, EPS8L3, FAM102B, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, MIR197, MYBPHL, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47 1 1
AHNAK2 1 1
AIMP1 1 1
ALDH18A1 1 1
ALDH3A2 1 1
ALDOB 1 1
ALG11, ATP7B, CCDC70, CKAP2, CNMD, DHRS12, FAM124A, HNRNPA1L2, INTS6, LINC00558, NEK3, NEK5, OLFM4, PCDH8, SERPINE3, SUGT1, THSD1, UTP14C, VPS36, WDFY2 1 1
AMPD1 1 1
AMPH, CDK13, MPLKIP, POU6F2, RALA, SUGCT, VPS41, YAE1 1 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 1
ANLN 1 1
APLNR, BTBD18, CLP1, LRRC55, MED19, MIR130A, OR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AK2, OR5AP2, OR5AR1, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5R1, OR5T1, OR5T2, OR5T3, OR5W2, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR9G1, OR9G4, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, TRIM48, TRIM51, UBE2L6, YPEL4, ZDHHC5 1 1
APOB 1 1
AQP2, LOC101927318 1 1
ARFGEF2 1 1
ARG1, MED23 1 1
ARHGAP8, PRR5-ARHGAP8 1 1
ARID1A 1 1
ARL6IP5, EOGT, LMOD3, TAFA1, TAFA4, TMF1, UBA3 1 1
ASAH1 1 1
ASS1 1 1
ASTN1 1 1
ATP5PO, CRYZL1, DNAJC28, DONSON, GART, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE2, MRPS6, OLIG1, OLIG2, SLC5A3, SMIM11A, SON, TMEM50B 1 1
ATP6V0E2, C7orf33, CNTNAP2, CUL1, EZH2, KRBA1, LOC100134040, PDIA4, RNY1, RNY3, RNY4, RNY5, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF777, ZNF783, ZNF786, ZNF862 1 1
ATRX 1 1
ATRX, MAGT1 1 1
AVPR2 1 1
AXIN2 1 1
BARD1 1 1
BAZ1B 1 1
BBS1 1 1
BCAP31 1 1
BCHE 1 1
BCL11B 1 1
BICD2 1 1
BIN1 1 1
BLOC1S1-RDH5, RDH5 1 1
BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PPIE 1 1
BMPR1B 1 1
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 1 1
BRINP3 1 1
BRIP1 1 1
BRPF1 1 1
BRWD1 1 1
BRWD3 1 1
BTD 1 1
BTRC, LBX1 1 1
C16orf74 1 1
C19orf12 1 1
C1orf194, CLCC1, ELAPOR1, GPSM2, SARS1, TAF13, TMEM167B, WDR47 1 1
CA4, HEATR6 1 1
CACNA2D3 1 1
CACNB2 1 1
CALML4 1 1
CAMK2G 1 1
CAPG 1 1
CAPN3 1 1
CARS2 1 1
CATSPER4 1 1
CBL 1 1
CBS 1 1
CCDC190 1 1
CCDC22 1 1
CD19 1 1
CDT1 1 1
CEBPA 1 1
CEP152 1 1
CEP290 1 1
CERCAM, GLE1, ODF2, PKN3, SET, SPTAN1, WDR34, ZDHHC12, ZER1 1 1
CETN2, CSAG1, MAGEA2, MAGEA3, NSDHL 1 1
CFAP157, PTRH1 1 1
CGAS 1 1
CHAT 1 1
CHCHD10 1 1
CHD1 1 1
CHD3 1 1
CHD7 1 1
CHD8 1 1
CHIT1 1 1
CHRNA4 1 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 1
CHRNG, TIGD1 1 1
CHST14 1 1
CIZ1 1 1
CLCN4 1 1
CLN8 1 1
CLTC 1 1
CMPK2, RNF144A, RSAD2, SOX11 1 1
CNGA1, LOC101927157 1 1
CNST, SMYD3, TFB2M 1 1
COASY 1 1
COG6 1 1
COL2A1 1 1
COL4A5 1 1
COL5A1, LOC101448202 1 1
COL7A1 1 1
COL9A2 1 1
CORO7-PAM16, PAM16 1 1
CPNE6 1 1
CPOX 1 1
CPPED1 1 1
CPT2 1 1
CRAT 1 1
CREBBP 1 1
CRPPA 1 1
CSNK2A1 1 1
CSNK2B 1 1
CTSC 1 1
CUBN 1 1
CXorf21, DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 1
CYP1B1 1 1
CYP2U1, HADH, LEF1, PAPSS1, SGMS2 1 1
CYP3A5, ZSCAN25 1 1
DBNL, PGAM2 1 1
DCHS2, MND1, RNF175, SFRP2, TLR2, TMEM131L, TRIM2 1 1
DDTL, DERL3, GSTT2B, MIF, SLC2A11, SMARCB1 1 1
DDX3X 1 1
DGUOK 1 1
DHTKD1 1 1
DHX29 1 1
DIP2C 1 1
DLC1, LONRF1, TRMT9B 1 1
DMAC2, LOC110121465 1 1
DMXL2, GLDN 1 1
DNAH1 1 1
DNAH14 1 1
DNAJB13 1 1
DNMT1 1 1
DOCK6 1 1
DPAGT1, HMBS 1 1
DPYD 1 1
DRP2 1 1
DSG1, DSG4 1 1
DSG2 1 1
DYNC1H1 1 1
DYRK1A 1 1
DYTN 1 1
EBF3 1 1
EDNRB 1 1
EEF1A2 1 1
EEF2 1 1
EFCAB5 1 1
EFHC1 1 1
ELN 1 1
EP300 1 1
EPB41 1 1
EPHB2 1 1
ERBB4 1 1
ERCC2 1 1
ESPN 1 1
ETHE1 1 1
EXOC4 1 1
EXOSC8 1 1
FANCC 1 1
FBN2 1 1
FBP1 1 1
FBXW4 1 1
FDPS, RUSC1 1 1
FGFR3 1 1
FH 1 1
FKRP 1 1
FLNB 1 1
FLT3 1 1
FN1 1 1
FOXE3, LINC01389 1 1
FYB2 1 1
FZD4 1 1
G6PD 1 1
GABRA6 1 1
GABRG2 1 1
GADD45GIP1 1 1
GARS1 1 1
GAS8, PRDM7 1 1
GATA3 1 1
GATAD1, PEX1 1 1
GBA, LOC106627981 1 1
GBA2 1 1
GFER 1 1
GH-LCR, SCN4A 1 1
GIPC3 1 1
GJB2 1 1
GJC2 1 1
GLB1 1 1
GLMN 1 1
GLT1D1, SLC15A4, TMEM132C, TMEM132D 1 1
GP1BA 1 1
GP9 1 1
GRHPR 1 1
GRIA2 1 1
GRIA3 1 1
GRIN2A 1 1
GRM5 1 1
GRM6, LOC100130798 1 1
GTPBP3 1 1
GYG2 1 1
GYS1 1 1
HAO1, PLCB1, TMX4 1 1
HBA1, HBA2, LOC106804612, LOC106804613 1 1
HBB, LOC106099062, LOC107133510 1 1
HEATR9 1 1
HECW2 1 1
HERC2 1 1
HFE 1 1
HFE, LOC108783645 1 1
HIF1A, PRKCH, SNAPC1, SYT16, TMEM30B 1 1
HIP1 1 1
HIVEP2 1 1
HK3 1 1
HLA-A 1 1
HSD17B10 1 1
HSD17B4 1 1
HSF4 1 1
HSPB1 1 1
HSPB8 1 1
HUWE1 1 1
IARS2 1 1
IFT74 1 1
IGF1R 1 1
IL1RAPL1 1 1
IL36RN 1 1
INHBA 1 1
INSL6, JAK2 1 1
IQCE 1 1
IQSEC2 1 1
ITGA7 1 1
ITPR1 1 1
JAK3 1 1
KANK1 1 1
KAT6B 1 1
KCNA1 1 1
KCNE1 1 1
KCNJ10 1 1
KCNJ11 1 1
KCNJ6 1 1
KCNQ2 1 1
KCNV2 1 1
KDM1A 1 1
KDM5B 1 1
KDM5C 1 1
KIAA1210 1 1
KIDINS220 1 1
KIF21B 1 1
KIRREL3 1 1
KRAS 1 1
LIPT1, MITD1 1 1
LOC100996842, MPDU1 1 1
LOC101927055, TTN 1 1
LOC101929057, MDN1 1 1
LOC106694316, MPO 1 1
LOC112529895, SCO1 1 1
LOX, SRFBP1 1 1
LPIN2 1 1
LRATD2 1 1
LRIT3 1 1
LRP6 1 1
LRPPRC 1 1
LRRC37A2, NSF 1 1
LTBP2 1 1
LTBP4 1 1
LZTR1 1 1
MAGEC1 1 1
MANBA 1 1
MAP3K7 1 1
MASP2 1 1
MATR3 1 1
MAVS 1 1
MBL2 1 1
MCCC1 1 1
MCCC2 1 1
MDN1 1 1
MED13L 1 1
MED23 1 1
MEFV 1 1
MEIS2 1 1
MEN1 1 1
MFN1 1 1
MGME1 1 1
MITF 1 1
MMACHC 1 1
MORC2 1 1
MPI 1 1
MPO 1 1
MPP6 1 1
MPST 1 1
MPV17L2 1 1
MRPL3 1 1
MRPS30 1 1
MSH3 1 1
MSL2 1 1
MT-CO1 1 1
MT-CO3 1 1
MT-ND1 1 1
MT-ND6 1 1
MT-RNR2 1 1
MT-TE 1 1
MT-TG 1 1
MT-TH 1 1
MT-TL2 1 1
MT-TT 1 1
MT-TV 1 1
MT-TW 1 1
MT-TY 1 1
MTFMT 1 1
MTHFD2L 1 1
MUTYH 1 1
MXRA5 1 1
MYH2, MYHAS 1 1
MYH7 1 1
MYL10 1 1
MYLK 1 1
MYO3B 1 1
MYOM1 1 1
NARS2 1 1
NBN 1 1
NCOA4 1 1
NDUFA1 1 1
NDUFAF7 1 1
NDUFS4 1 1
NDUFV1 1 1
NEB, RIF1 1 1
NECTIN4 1 1
NEFH 1 1
NEXMIF 1 1
NFIA 1 1
NKAIN2 1 1
NLRP12 1 1
NLRP3 1 1
NMI 1 1
NODAL 1 1
NOXA1 1 1
NPC1 1 1
NRAS 1 1
NRL, PCK2 1 1
NRN1L 1 1
NRXN1 1 1
NRXN2 1 1
NTRK1 1 1
NUBPL 1 1
OPA3 1 1
OR6K2 1 1
ORC1 1 1
OTOG 1 1
P2RX7 1 1
PACS1 1 1
PAFAH1B1 1 1
PAX2 1 1
PC 1 1
PCCB 1 1
PCNT 1 1
PDHX 1 1
PDLIM3 1 1
PEX16 1 1
PEX6 1 1
PGM1 1 1
PHEX 1 1
PHF8 1 1
PHKA2 1 1
PIK3R1 1 1
PIK3R2 1 1
PINK1 1 1
PITRM1 1 1
PKD2 1 1
PLEKHG5 1 1
PLXNA3 1 1
PLXNB3 1 1
PMP22 1 1
PNPT1 1 1
POU1F1 1 1
PPA2 1 1
PPM1D 1 1
PPOX 1 1
PPP2R1A 1 1
PPT1 1 1
PRB2 1 1
PRICKLE1 1 1
PRKAR1A 1 1
PRKG1 1 1
PROM1 1 1
PRPH2 1 1
PRSS12 1 1
PRSS33 1 1
PRUNE2 1 1
PTCHD1 1 1
PTRH2 1 1
PUF60 1 1
QRFPR 1 1
RAB11FIP5 1 1
RAD51D, RAD51L3-RFFL 1 1
RECQL4 1 1
RELN 1 1
RET 1 1
RGPD4 1 1
RHO 1 1
RHOT1 1 1
RMND1 1 1
ROCK2 1 1
ROR2 1 1
RP1L1 1 1
RPS23 1 1
RSPH4A 1 1
RTEL1, RTEL1-TNFRSF6B 1 1
RYR2 1 1
SATB2 1 1
SCN10A 1 1
SCN3A 1 1
SCO1 1 1
SCP2 1 1
SDHA 1 1
SDHB 1 1
SDHD 1 1
SDK1 1 1
SDSL 1 1
SERPINA1 1 1
SHANK2 1 1
SIX5 1 1
SLC12A6 1 1
SLC19A2 1 1
SLC22A5 1 1
SLC25A12 1 1
SLC25A38 1 1
SLC26A4 1 1
SLC27A4 1 1
SLC6A2 1 1
SLC6A8 1 1
SMCHD1 1 1
SMS 1 1
SNED1 1 1
SNHG14, UBE3A 1 1
SON 1 1
SOS2 1 1
SP110, SP140 1 1
SPG11 1 1
SPI1 1 1
SPINK1 1 1
SPINK5 1 1
SPTLC2 1 1
SQSTM1 1 1
SRPK3 1 1
SSH3 1 1
STAG1 1 1
STRA6 1 1
STT3B 1 1
STX11 1 1
STX1B 1 1
SUCLG2 1 1
SURF1 1 1
SYNE1 1 1
SYT12 1 1
SYT4 1 1
SZT2 1 1
TALDO1 1 1
TANGO2 1 1
TAOK1 1 1
TBC1D24 1 1
TBR1 1 1
TCAP 1 1
TCIRG1 1 1
TCOF1 1 1
TECPR2 1 1
TECTA 1 1
TFG 1 1
TG 1 1
TGFB2 1 1
TH 1 1
THG1L 1 1
TJP2 1 1
TKT 1 1
TLK2 1 1
TMLHE 1 1
TNFRSF13B 1 1
TNFRSF1A 1 1
TNRC6B 1 1
TNXB 1 1
TOPORS 1 1
TPO 1 1
TRAPPC9 1 1
TRIM4 1 1
TRIOBP 1 1
TRMU 1 1
TRNT1 1 1
TRPM3 1 1
TRPV4 1 1
TSC1 1 1
TSTD3, USP45 1 1
TTC21B 1 1
TUBA1A 1 1
UBE2A 1 1
UBR3 1 1
UBTF 1 1
UGT1A, UGT1A10, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 1
USP1 1 1
USP7 1 1
USP8 1 1
USP9X 1 1
VARS2 1 1
VCL 1 1
VRK1 1 1
WDR37 1 1
WDR81 1 1
WWOX 1 1
ZBTB20 1 1
ZC4H2 1 1
ZFP36L2 1 1
ZIC5 1 1
ZMYND11 1 1
ZNF227 1 1
ZNF292 1 1
ZNF814 1 1
ZNF844 1 1

Condition and significance breakdown #

Total conditions: 551
Download table as spreadsheet
Condition not provided total
not provided 328 328
Ehlers-Danlos syndrome, classic type 7 7
Merosin deficient congenital muscular dystrophy 6 6
Autosomal recessive polycystic kidney disease 5 5
Ehlers-Danlos syndrome, type 4 5 5
Lynch syndrome 5 5
Wilson disease 5 5
Cohen syndrome 4 4
POLG-related disorders 4 4
Spastic paraplegia 4, autosomal dominant 4 4
Stargardt disease 4 4
COL1A2-Related Disorder 3 3
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 3 3
Deafness 3 3
Deficiency of butyryl-CoA dehydrogenase 3 3
Diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1-Related Disorders; Wolfram-like syndrome, autosomal dominant 3 3
Distal myopathy Markesbery-Griggs type 3 3
Donnai Barrow syndrome 3 3
Ehlers-Danlos syndrome progeroid type 3 3
Fabry disease 3 3
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 3 3
Hearing loss 3 3
Hereditary breast and ovarian cancer syndrome 3 3
Hereditary cancer 3 3
Hypertrophic cardiomyopathy 3 3
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 3 3
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 3 3
Mitochondrial DNA-related disorder 3 3
Mitochondrial complex I deficiency 3 3
PIGT-related disorder 3 3
Phenylketonuria 3 3
RYR1-Related Disorder 3 3
Spastic paraplegia 7 3 3
Stargardt disease 1 3 3
Acromelic frontonasal dysostosis 2 2
Acute Porphyria 2 2
Alstrom syndrome 2 2
Aortic valve disorder; Adams-Oliver syndrome 5 2 2
Autosomal dominant retinitis pigmentosa 2 2
Bainbridge-Ropers syndrome 2 2
Becker muscular dystrophy; Duchenne muscular dystrophy 2 2
Brittle cornea syndrome 1 2 2
Brugada syndrome 2 2
CASK-Related Disorder 2 2
Cardiomyopathy 2 2
Ceroid lipofuscinosis neuronal 2 2 2
Charcot-Marie-Tooth disease type 2P 2 2
Chromosome 2q23.1 deletion syndrome 2 2
Collagen VI-related myopathy 2 2
Combined oxidative phosphorylation deficiency 12 2 2
Congenital disorder of glycosylation type Ir 2 2
Cystic fibrosis 2 2
DCTN1-Related Disorder 2 2
DEPDC5-Related Disorder 2 2
Deafness, autosomal recessive 12; Usher syndrome, type 1D 2 2
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2 2
Deafness, autosomal recessive 77 2 2
Deafness, autosomal recessive 84b 2 2
Deficiency of butyrylcholine esterase 2 2
Deficiency of steroid 17-alpha-monooxygenase 2 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2 2
Dominant hereditary optic atrophy 2 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2 2
ELP2-Related Disorders 2 2
EMC1-Related Disorder 2 2
Early infantile epileptic encephalopathy 18 2 2
Early onset epileptic encephalopathy 2 2
Epilepsy, childhood absence 6 2 2
Familial hypercholesterolemia 1 2 2
Familial hypertrophic cardiomyopathy 4 2 2
GATAD2B-Related Disorder 2 2
GRIN1-Related Disorder 2 2
Glycogen storage disease, type IV 2 2
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; Infantile encephalopathy 2 2
Hereditary hemochromatosis 2 2
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2 2
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 2 2
Ichthyosis vulgaris 2 2
Intellectual developmental disorder with cardiac arrhythmia; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 2 2
Intellectual disability 2 2
KBG syndrome 2 2
Kabuki syndrome 1 2 2
Leukoencephalopathy with vanishing white matter 2 2
Long QT syndrome 2 2
MARS-Related Disorder 2 2
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 2 2
Marfan syndrome 2 2
Multiple fibrofolliculomas 2 2
Muscular dystrophy 2 2
Myeloperoxidase deficiency 2 2
Myopathy, myofibrillar, 9, with early respiratory failure 2 2
Neurofibromatosis, type 1 2 2
Parkinson disease 9 2 2
Periventricular nodular heterotopia 1 2 2
Polycystic kidney disease, adult type 2 2
Poretti-Boltshauser syndrome 2 2
Primary autosomal recessive microcephaly 10 2 2
Primary autosomal recessive microcephaly 3 2 2
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 2 2
Pseudoxanthoma elasticum 2 2
Rasopathy 2 2
Retinitis pigmentosa 40 2 2
SCN5A-related disorder 2 2
SHANK3-Related Disorder 2 2
SLC6A1-Related Disorder 2 2
Short stature, brachydactyly, intellectual developmental disability, and seizures 2 2
Smith-Lemli-Opitz syndrome 2 2
Spastic ataxia Charlevoix-Saguenay type 2 2
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14 2 2
Succinate-semialdehyde dehydrogenase deficiency 2 2
Tatton-Brown-rahman syndrome 2 2
Tyrosinase-positive oculocutaneous albinism 2 2
UNC80-Related Disorder 2 2
Warsaw breakage syndrome 2 2
Xia-Gibbs syndrome 2 2
15q13.3 microdeletion syndrome 1 1
1q21.1 recurrent microdeletion 1 1
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease, axonal, type 2Q 1 1
3 Methylcrotonyl-CoA carboxylase 1 deficiency 1 1
3-Methylglutaconic aciduria type 3; Optic atrophy and cataract, autosomal dominant 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 1 1
ABCB4-related disorders 1 1
ABCD syndrome; Hirschsprung disease 2; Waardenburg syndrome type 4A 1 1
ACO2-related disorder 1 1
ACO2-related disorders 1 1
ACTG2-Related Disorder 1 1
ATRX-Related Disorder 1 1
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Hypochondroplasia 1 1
Acute myeloid leukemia 1 1
Adams-Oliver syndrome 2 1 1
Alpha-1-antitrypsin deficiency 1 1
Alpha-thalassemia and related diseases 1 1
Alport syndrome 1, X-linked recessive 1 1
Andermann syndrome 1 1
Angelman syndrome 1 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 1 1
Anterior segment mesenchymal dysgenesis; Congenital primary aphakia; Thoracic aortic aneurysm and aortic dissection 1 1
Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta 1 1
Aortic aneurysm, familial thoracic 7 1 1
Aortic aneurysm, familial thoracic 8 1 1
Arginase deficiency 1 1
Ataxia-telangiectasia syndrome; Hereditary cancer 1 1
Ataxia-telangiectasia syndrome; breast cancer 1 1
Autism, susceptibility to, 18 1 1
Autism, susceptibility to, X-linked 6 1 1
Autosomal dominant familial acute myeloid leukemia 1 1
Autosomal recessive centronuclear myopathy 1 1
BRWD3-Related Disorder 1 1
Barakat syndrome 1 1
Bardet-Biedl syndrome 1 1
Bardet-Biedl syndrome 20 1 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 1 1
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 1 1
Bernard Soulier syndrome 1 1
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease 1 1
Beta-D-mannosidosis 1 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 1 1
Bethlem myopathy 1 1 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 1 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 1
Biotinidase deficiency 1 1
Breast cancer, susceptibility to; COLON CANCER, SUSCEPTIBILITY TO 1 1
Breast-ovarian cancer, familial 2 1 1
CACNA1A-Related Disorder 1 1
CACNA1C-Related Disorder 1 1
CACNA1G-related disorders 1 1
CACNA1H-related disorder 1 1
CEP290-related ciliopathies 1 1
CHARGE association 1 1
CHD2-Related Disorder 1 1
CHD3-Related Disorder 1 1
CHD8-Related Disorders 1 1
CLCN4-related disorder 1 1
CLTC-Related Disorder 1 1
COL11A2- Related Disorder 1 1
COL2A1-Related Disorder 1 1
COL3A1-Related Disorder 1 1
COL4A1-Related Disorder 1 1
COL6A1-related Disorder 1 1
CSNK2A1- Related Disorders 1 1
Cardiac arrhythmia, ankyrin B-related 1 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 1 1
Carney complex 1 1
Carnitine palmitoyltransferase II deficiency 1 1
Catecholaminergic polymorphic ventricular tachycardia type 1 1 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 1 1
Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive 1 1
Ceroid lipofuscinosis neuronal 1 1 1
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 1 1
Ceroid lipofuscinosis neuronal 8 1 1
Charcot-Marie-Tooth disease type 2C 1 1
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 1 1
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1 1
Charcot-Marie-Tooth disease, axonal, type 2z 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 1 1
Charcot-Marie-Tooth disease, type 2L 1 1
Charcot-Marie-Tooth disease, type 2N 1 1
Chromosome 16p13.3 deletion syndrome, proximal 1 1
Chromosome Xp21 deletion syndrome 1 1
Chromosome Xq28 deletion syndrome 1 1
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 1 1
Ciliary dyskinesia, primary, 11 1 1
Ciliary dyskinesia, primary, 34 1 1
Citrullinemia type I 1 1
Coffin-Siris syndrome 1 1
Combined oxidative phosphorylation deficiency 11 1 1
Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 1 1
Combined oxidative phosphorylation deficiency 15 1 1
Combined oxidative phosphorylation deficiency 16 1 1
Combined oxidative phosphorylation deficiency 20 1 1
Combined oxidative phosphorylation deficiency 24 1 1
Combined oxidative phosphorylation deficiency 27 1 1
Combined oxidative phosphorylation deficiency 9 1 1
Common variable immunodeficiency 2 1 1
Congenital aniridia 1 1
Congenital disorder of glycosylation type 1B 1 1
Congenital disorder of glycosylation type 1F 1 1
Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 1 1
Congenital disorder of glycosylation type 1t 1 1
Congenital disorder of glycosylation type 1x 1 1
Congenital disorder of glycosylation type 2L 1 1
Congenital hyperammonemia, type I 1 1
Congenital hypothyroidism 1 1
Congenital stationary night blindness 1 1
Congenital stationary night blindness, type 1F 1 1
Coronary artery disease 1 1
Craniosynostosis 3 1 1
Creatine deficiency, X-linked 1 1
Cutis Laxa Syndrome 1 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 1 1
Cutis laxa-corneal clouding-oligophrenia syndrome; Spastic paraplegia 9; Spastic paraplegia 9b, autosomal recessive; Cutis laxa, autosomal dominant 3 1 1
DDX3X-Related Disorder 1 1
DEAFNESS, AUTOSOMAL RECESSIVE 106 1 1
DNMT1-Related Disorder 1 1
DYNC1H1-related disorders 1 1
DYSF- Related Disorder 1 1
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 1 1
Deafness, autosomal recessive 98 1 1
Deficiency of iodide peroxidase 1 1
Deficiency of isobutyryl-CoA dehydrogenase 1 1
Deficiency of transaldolase 1 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 1 1
Diabetes mellitus type 2 1 1
Dihydropyrimidine dehydrogenase deficiency 1 1
Dilated cardiomyopathy 1A 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy, LMNA-related 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 1 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 1 1
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 1 1
Duane syndrome type 1 1 1
Duchenne muscular dystrophy 1 1
Dysferlinopathy 1 1
Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1 1
Dystonia, primary cervical 1 1
Ectodermal dysplasia-syndactyly syndrome 1 1 1
Ehlers-Danlos syndrome 1 1
Ehlers-Danlos syndrome, musculocontractural type 1 1
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta 1 1
Ehlers-Danlos syndrome, type 3 1 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 1 1
Elliptocytosis 1 1 1
Endometrial carcinoma; Familial adenomatous polyposis 4 1 1
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q 1 1
Epilepsy, nocturnal frontal lobe, type 1 1 1
Epileptic encephalopathy, childhood-onset 1 1
Epileptic encephalopathy, early infantile, 33 1 1
Episodic ataxia type 1 1 1
Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Hemiplegia-hemiconvulsion-epilepsy syndrome 1 1
Essential hypertension 1 1
Ethylmalonic encephalopathy 1 1
FBN1-Related Disorders 1 1
FKRP-Related Disorder 1 1
FLG-Related Disorder 1 1
FLNA-related disorder 1 1
FLNB-Related Disorder 1 1
Facioscapulohumeral muscular dystrophy 2 1 1
Familial Mediterranean fever 1 1
Familial adenomatous polyposis 1 1 1
Familial cancer of breast 1 1
Familial cardiomyopathy 1 1
Familial exudative vitreoretinopathy 1 1
Familial hemophagocytic lymphohistiocytosis 1 1
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 1 1
Familial infantile myasthenia 1 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 1 1
Familial thoracic aortic aneurysm 1 1
Fanconi anemia, complementation group D1; Hereditary breast and ovarian cancer syndrome 1 1
Fanconi anemia, complementation group M 1 1
Fanconi anemia; Hereditary cancer 1 1
Focal segmental glomerulosclerosis 8 1 1
Fructose-biphosphatase deficiency 1 1
Fundus albipunctatus, autosomal recessive 1 1
GABRA6-Related Disorder 1 1
GABRG2-Related Disorder 1 1
GLUT1 deficiency syndrome 2 1 1
GRIA3-Related Disorder 1 1
GRIN2B-Related Disorder 1 1
Gamma-aminobutyric acid transaminase deficiency 1 1
Gastrointestinal stroma tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 1 1
Gaucher disease 1 1
Glaucoma 3, primary congenital, A; Irido-corneo-trabecular dysgenesis 1 1
Glomerulopathy with fibronectin deposits 2; Plasma fibronectin deficiency 1 1
Glomuvenous malformations 1 1
Glucose 6 phosphate dehydrogenase deficiency 1 1
Glycogen storage disease 0, muscle 1 1
Glycogen storage disease type 13 1 1
Glycogen storage disease type III 1 1
Glycogen storage disease type IXa1 1 1
Glycogen storage disease type X 1 1
Glycogen storage disease, type V 1 1
Glycogen storage disease, type VII 1 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 1 1
HIVEP2-Related Disorder 1 1
HSD17B10-Related Disorder 1 1
HSPB1-Related Disorder 1 1
HUWE1-Related Disorder 1 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 1 1
Hepatic venoocclusive disease with immunodeficiency; Mycobacterium tuberculosis, susceptibility to 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 1 1
Hereditary fructosuria 1 1
Hereditary insensitivity to pain with anhidrosis 1 1
Hereditary nonpolyposis colon cancer 1 1
Hereditary pancreatitis 1 1
Hereditary sensory and autonomic neuropathy type IC 1 1
Heterotopia, periventricular, autosomal recessive 1 1
Hyperammonemia, type III 1 1
Hyperphosphatasia with mental retardation syndrome 2 1 1
Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1 1
Hypocalciuric hypercalcemia, familial, type 1 1 1
Hypomyelination, global cerebral 1 1
Hypophosphatasia 1 1
Hypophosphatemia 1 1
Hypotonia, ataxia, and delayed development syndrome 1 1
Hypotrichosis 6 1 1
IGF1R-Related Disorder 1 1
IL1RAPL1-Related Disorder 1 1
ISPD-Related Disorder 1 1
Ichthyosis prematurity syndrome 1 1
Intellectual disability, non syndromic 1 1
Jankovic Rivera syndrome; Farber disease 1 1
Juvenile myoclonic epilepsy 1 1
Juvenile myoclonic epilepsy; Intellectual disability 1 1
KANK1- Related Disorder 1 1
Keppen-Lubinsky syndrome 1 1
LOX-Related Disorder 1 1
LTBP2-related Disorder 1 1
LZTR1-Related Disorder 1 1
Lamellar cataract 1 1
Laminin alpha 2-related dystrophy 1 1
Leber's optic atrophy 1 1
Leber's optic atrophy; Neuropathy ataxia retinitis pigmentosa syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 1
Leigh syndrome 1 1
Leigh syndrome, French Canadian type 1 1
Leigh syndrome; Charcot-Marie-Tooth disease, type 4k 1 1
Leigh syndrome; Dilated cardiomyopathy 1GG 1 1
Leukodystrophy, hypomyelinating 3 1 1
Leukoencephalopathy with dystonia and motor neuropathy 1 1
Lewy body dementia; Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease, perinatal lethal; Gaucher disease type 3C; Parkinson disease, late-onset 1 1
Limb-girdle muscular dystrophy, type 2A 1 1
Limb-girdle muscular dystrophy, type 2G; Dilated cardiomyopathy 1N 1 1
Limb-girdle muscular dystrophy, type 2Q 1 1
Lissencephaly 1 1 1
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 1 1
Lissencephaly 3 1 1
Liver failure acute infantile 1 1
Loeys-Dietz syndrome 3 1 1
Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection 1 1
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm 1 1
Long QT syndrome 1 1 1
Lynch syndrome II 1 1
MATR3-Related Disorder 1 1
MEF2C-Related Disorder 1 1
MEIS2-related disorder 1 1
MUTYH-associated polyposis 1 1
MYH2-related myopathy 1 1
MYH9-related disorder 1 1
MYO7A-related disorder 1 1
MYOM1-related disorder 1 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 1
Macular dystrophy, atypical vitelliform; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 1 1
Majeed syndrome 1 1
Malignant hyperthermia susceptibility 1 1
Malignant hyperthermia, susceptibility to, 1; Multiminicore Disease; Centronuclear myopathy; Congenital fiber-type disproportion 1 1
Mannose-binding protein deficiency 1 1
Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome; Ectopia lentis; Familial thoracic aortic aneurysm 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 1
Megaloblastic anemia due to inborn errors of metabolism 1 1
Meier-Gorlin syndrome 1 1 1
Meier-Gorlin syndrome 4 1 1
Mental retardation, X-linked 1 1 1
Mental retardation, X-linked 98 1 1
Mental retardation, autosomal dominant 1 1 1
Mental retardation, autosomal dominant 4 1 1
Mental retardation, autosomal dominant 6 1 1
Mental retardation, autosomal dominant 9 1 1
Mental retardation, autosomal recessive 1 1 1
Mental retardation, autosomal recessive 13 1 1
Mental retardation, autosomal recessive 18 1 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 1
Mental retardation-hypotonic facies syndrome X-linked, 1 1 1
Mercaptolactate-cysteine disulfiduria 1 1
Methylmalonic acidemia with homocystinuria 1 1
Microcephalic osteodysplastic primordial dwarfism type 2 1 1
Mitochondrial DNA depletion syndrome 11 1 1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 1 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 1 1
Mitochondrial complex I deficiency; Leigh syndrome 1 1
Mitochondrial-DNA disorder