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 0 800 800

Gene and significance breakdown #

Total genes and gene combinations: 577
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Gene or gene combination not provided total
​intergenic 11 11
TTN 11 11
BRCA2 9 9
ABCA4 7 7
POLG 7 7
COL3A1 6 6
CPS1 6 6
LAMA2 6 6
MYBPC3 6 6
MT-ATP6 5 5
RYR1 5 5
ATP7B 4 4
DMD 4 4
MSH2 4 4
NAGS 4 4
PMS2 4 4
SPAST 4 4
STXBP1 4 4
VPS13B 4 4
ACADS 3 3
ANO5 3 3
APC 3 3
ASXL3 3 3
BRCA1 3 3
CASK 3 3
CHEK2 3 3
COL11A2 3 3
COL5A1 3 3
COL5A2 3 3
COL6A2 3 3
DARS2 3 3
ENO3 3 3
FLNA 3 3
GLA, RPL36A-HNRNPH2 3 3
MAP2K2 3 3
OPA1 3 3
PAH 3 3
PFKM 3 3
PIGT 3 3
PKHD1 3 3
PYGM 3 3
SPG7 3 3
TPP1 3 3
ABCC6 2 2
ACO2 2 2
ALDH5A1 2 2
ANKRD11 2 2
ATM 2 2
ATM, C11orf65 2 2
ATP13A2 2 2
B4GALT7 2 2
BRAF 2 2
CACHD1 2 2
CACNA1G 2 2
CACNA1H 2 2
CDK5RAP2 2 2
CHN1 2 2
CHRNA7 2 2
COL1A2 2 2
COL4A1 2 2
COL6A1 2 2
CYP17A1 2 2
DDOST 2 2
DDX11 2 2
DEPDC5 2 2
DHCR7 2 2
DOCK8 2 2
DYSF 2 2
EARS2 2 2
ELP2 2 2
ELP3 2 2
FANCM 2 2
FLCN 2 2
FLNC 2 2
GBE1 2 2
GNB5 2 2
GOLGA6L6 2 2
GOSR2, LRRC37A2 2 2
GRIA1 2 2
HRAS, LRRC56 2 2
KCNE1, KCNE2, RCAN1, SMIM11A 2 2
KCNH2 2 2
KIF1A 2 2
KLF8 2 2
KMT2D 2 2
LDLR 2 2
LRSAM1 2 2
MARS 2 2
MBD5 2 2
MEF2C 2 2
MRPL44 2 2
MSRB3 2 2
MT-CYB 2 2
MT-ND2 2 2
MT-RNR1 2 2
MYH9 2 2
NOTCH1 2 2
OCA2 2 2
PALB2 2 2
PAX6 2 2
PIGO 2 2
PLEC 2 2
POLD1 2 2
POLE 2 2
PRMT7 2 2
SACS 2 2
SARS2 2 2
SCN1A 2 2
SCN1B 2 2
SCN2A 2 2
SCN5A 2 2
SCN8A 2 2
SETBP1 2 2
SLC2A1 2 2
SLC4A1 2 2
SPANXA1, SPANXA2 2 2
SPTBN2 2 2
STK11 2 2
TERT 2 2
TGFBR2 2 2
TSC2 2 2
UNC80 2 2
WFS1 2 2
ZFHX4 2 2
ZNF335 2 2
ZNF595 2 2
AARS 1 1
ABAT 1 1
ABCB4 1 1
ABCC1 1 1
ABCC1, ABCC6, BMERB1, FOPNL, MARF1, MYH11, NDE1, NOMO3, XYLT1 1 1
ABCC9 1 1
ACAD8 1 1
ACADM 1 1
ACBD6, LHX4 1 1
ACD 1 1
ACKR3 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
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
AGTPBP1 1 1
AHNAK2 1 1
AIMP1 1 1
ALDH18A1 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
ALPL 1 1
AMPD1 1 1
AMPH, CDK13, MPLKIP, POU6F2, RALA, SUGCT, VPS41, YAE1 1 1
ANK2 1 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 1
APOB 1 1
AQP2, LOC101927318 1 1
ARFGEF2 1 1
ARG1, MED23 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
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
BICD2 1 1
BIN1 1 1
BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PPIE 1 1
BMPR1B 1 1
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 1 1
BRIP1 1 1
BRPF1 1 1
BRWD1 1 1
BTD 1 1
BTRC, LBX1 1 1
C16orf74 1 1
C19orf12 1 1
C1orf194, CLCC1, GPSM2, KIAA1324, SARS, TAF13, TMEM167B, WDR47 1 1
CA4, HEATR6 1 1
CACNA1C 1 1
CACNA2D3 1 1
CACNB2 1 1
CALML4 1 1
CAMK2G 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
CFTR 1 1
CGAS 1 1
CHAT 1 1
CHCHD10 1 1
CHD1 1 1
CHD2 1 1
CHD7 1 1
CHD8 1 1
CHIT1 1 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 1
CHRNG 1 1
CHST14 1 1
CIZ1 1 1
CLCN4 1 1
CLN8 1 1
CMPK2, RNF144A, RSAD2, SOX11 1 1
CNST, SMYD3, TFB2M 1 1
COASY 1 1
COG6 1 1
COL1A1 1 1
COL2A1 1 1
COL5A1, LOC101448202 1 1
COL9A2 1 1
CORO7-PAM16, PAM16 1 1
CPNE6 1 1
CPOX 1 1
CPPED1 1 1
CPT2 1 1
CREBBP 1 1
CSNK2A1 1 1
CTSC 1 1
CUBN 1 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 1
CYP1B1 1 1
CYP3A5, ZSCAN25 1 1
DBNL, PGAM2 1 1
DCTN1 1 1
DDX3X 1 1
DHTKD1 1 1
DHX29 1 1
DIP2C 1 1
DLC1, LONRF1, TRMT9B 1 1
DMXL2, GLDN 1 1
DNAH14 1 1
DNAJB13 1 1
DNMT1 1 1
DNMT3A 1 1
DOCK6 1 1
DPYD 1 1
DSG1, DSG4 1 1
DSG2 1 1
DYNC1H1 1 1
DYRK1A 1 1
DYTN 1 1
EDNRB 1 1
EEF2 1 1
EFCAB5 1 1
EFHC1 1 1
ELN 1 1
EP300 1 1
EPB41 1 1
EPHB2 1 1
EPS8 1 1
ERBB4 1 1
ERCC2 1 1
ESPN 1 1
ETHE1 1 1
EXOSC8 1 1
FANCC 1 1
FBN1 1 1
FBN2 1 1
FBP1 1 1
FBXW4 1 1
FGFR3 1 1
FH 1 1
FLG 1 1
FLNB 1 1
FLT3 1 1
FN1 1 1
FYB2 1 1
FZD4 1 1
G6PD 1 1
GABRA6 1 1
GABRG2 1 1
GARS 1 1
GAS8, PRDM7 1 1
GATA3 1 1
GATAD1, PEX1 1 1
GATAD2B 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
GRIN1 1 1
GRIN2A 1 1
GRIN2B 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
HIP1 1 1
HIVEP2 1 1
HLA-A 1 1
HSD17B10 1 1
HSD17B4 1 1
HSF4 1 1
HSPB1 1 1
HSPB8 1 1
HUWE1 1 1
IL1RAPL1 1 1
IL36RN 1 1
INHBA 1 1
INSL6, JAK2 1 1
IQSEC2 1 1
ITPR1 1 1
JAK3 1 1
KANK1 1 1
KAT6B 1 1
KCNA1 1 1
KCNE1 1 1
KCNJ11 1 1
KCNJ6 1 1
KCNQ2 1 1
KCNV2 1 1
KDM5B 1 1
KDM5C 1 1
KIAA1210 1 1
KIDINS220 1 1
KIRREL3 1 1
KRAS 1 1
LAMA1 1 1
LIPT1, MITD1 1 1
LMBRD1 1 1
LOC101927055, TTN 1 1
LOC101929057, MDN1 1 1
LOC106694316, MPO 1 1
LOC112529895, SCO1 1 1
LPIN2 1 1
LRATD2 1 1
LRRC37A2, NSF 1 1
LTBP2 1 1
LTBP4 1 1
LZTR1 1 1
MAGEC1 1 1
MANBA 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
MGME1 1 1
MITF 1 1
MLH1 1 1
MPI 1 1
MPO 1 1
MPP6 1 1
MPV17L2 1 1
MPZ 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-ND4 1 1
MT-ND6 1 1
MT-RNR2 1 1
MT-TE 1 1
MT-TG 1 1
MT-TH 1 1
MT-TT 1 1
MT-TW 1 1
MT-TY 1 1
MTFMT 1 1
MUTYH 1 1
MYH11 1 1
MYH2, MYHAS 1 1
MYH7 1 1
MYLK 1 1
MYO3B 1 1
MYOM1 1 1
NARS2 1 1
NBN 1 1
NDUFA1 1 1
NDUFS4 1 1
NDUFV1 1 1
NEB, RIF1 1 1
NECTIN4 1 1
NEFH 1 1
NF1 1 1
NLRP12 1 1
NLRP3 1 1
NMI 1 1
NODAL 1 1
NOXA1 1 1
NPC1 1 1
NPC2 1 1
NRAS 1 1
NRL, PCK2 1 1
NRN1L 1 1
NRXN1 1 1
NTRK1 1 1
NUBPL 1 1
OPA3 1 1
OR6K2 1 1
ORC1 1 1
OTOG 1 1
P2RX7 1 1
PAFAH1B1 1 1
PAX2 1 1
PC 1 1
PCCB 1 1
PCNT 1 1
PDHX 1 1
PDLIM3 1 1
PEX6 1 1
PGM1 1 1
PHEX 1 1
PHF8 1 1
PHKA2 1 1
PIK3R1 1 1
PINK1 1 1
PKD1 1 1
PLXNA3 1 1
PLXNB3 1 1
POMT2 1 1
POU1F1 1 1
PPM1D 1 1
PPOX 1 1
PRB2 1 1
PRICKLE1 1 1
PRKAR1A 1 1
PRSS12 1 1
PRSS33 1 1
PRUNE2 1 1
PUF60 1 1
QRFPR 1 1
RAB11FIP5 1 1
RELN 1 1
RET 1 1
RGPD4 1 1
RHO 1 1
RMND1 1 1
ROCK2 1 1
ROR2 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
SHANK3 1 1
SLC12A6 1 1
SLC19A2 1 1
SLC22A5 1 1
SLC25A12 1 1
SLC25A38 1 1
SLC26A4 1 1
SLC6A1 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
STAG1 1 1
STAT1 1 1
STRA6 1 1
STT3B 1 1
STX11 1 1
STX1B 1 1
SURF1 1 1
SYT12 1 1
SYT4 1 1
SZT2 1 1
TANGO2 1 1
TAOK1 1 1
TBC1D24 1 1
TBR1 1 1
TCIRG1 1 1
TCOF1 1 1
TECPR2 1 1
TECTA 1 1
TGFB2 1 1
TH 1 1
THG1L 1 1
TJP2 1 1
TKT 1 1
TNFRSF13B 1 1
TNFRSF1A 1 1
TNRC6B 1 1
TNXB 1 1
TPO 1 1
TRAPPC9 1 1
TRIM4 1 1
TRIOBP 1 1
TRMU 1 1
TRNT1 1 1
TRPM3 1 1
TSPEAR 1 1
TSTD3, USP45 1 1
TTC21B 1 1
TUBA1A 1 1
UBE2A 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
ZC4H2 1 1
ZFP36L2 1 1
ZIC5 1 1
ZMYND11 1 1
ZNF227 1 1
ZNF292 1 1
ZNF814 1 1
ZSWIM6 1 1

Condition and significance breakdown #

Total conditions: 427
Download table as spreadsheet
Condition not provided total
not provided 270 270
Ehlers-Danlos syndrome, classic type 5 5
Ehlers-Danlos syndrome, type 4 5 5
Merosin deficient congenital muscular dystrophy 5 5
Cohen syndrome 4 4
Spastic paraplegia 4, autosomal dominant 4 4
Wilson disease 4 4
Autosomal recessive polycystic kidney disease 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
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
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 3 3
Lynch syndrome 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
Acute Porphyria 2 2
Bainbridge-Ropers syndrome 2 2
Becker muscular dystrophy; Duchenne muscular dystrophy 2 2
Brugada syndrome 2 2
Cardiomyopathy 2 2
Ceroid lipofuscinosis neuronal 2 2 2
Charcot-Marie-Tooth disease type 2P 2 2
Collagen VI-related myopathy 2 2
Combined oxidative phosphorylation deficiency 12 2 2
Congenital disorder of glycosylation type Ir 2 2
DEPDC5-Related Disorder 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; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2 2
Dominant hereditary optic atrophy 2 2
ELP2-Related Disorders 2 2
Early infantile epileptic encephalopathy 18 2 2
Early onset epileptic encephalopathy 2 2
Ehlers-Danlos syndrome progeroid type 2 2
Familial hypercholesterolemia 2 2
Familial hypertrophic cardiomyopathy 4 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
Hypertrophic cardiomyopathy 2 2
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 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
Long QT syndrome 2 2
MARS-Related Disorder 2 2
Multiple fibrofolliculomas 2 2
Muscular dystrophy 2 2
Myeloperoxidase deficiency 2 2
POLG-Related disorder 2 2
Parkinson disease 9 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
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
Stargardt disease 1 2 2
Succinate-semialdehyde dehydrogenase deficiency 2 2
Tyrosinase-positive oculocutaneous albinism 2 2
UNC80-Related Disorder 2 2
Warsaw breakage syndrome 2 2
15q13.3 microdeletion syndrome 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
ATRX-Related Disorder 1 1
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Hypochondroplasia 1 1
Acromelic frontonasal dysostosis 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
Andermann syndrome 1 1
Angelman syndrome 1 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Porencephaly 1 1 1
Aortic aneurysm, familial thoracic 7 1 1
Aortic valve disorder; Adams-Oliver syndrome 5 1 1
Arginase deficiency 1 1
Ataxia-telangiectasia syndrome; Hereditary cancer 1 1
Autism, susceptibility to, 18 1 1
Autosomal dominant familial acute myeloid leukemia 1 1
Autosomal dominant retinitis pigmentosa 1 1
Autosomal recessive centronuclear myopathy 1 1
Barakat syndrome 1 1
Bardet-Biedl syndrome 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
CACNA1G-related disorders 1 1
CACNA1H-related disorder 1 1
CASK-Related Disorder 1 1
CEP290-related ciliopathies 1 1
CHARGE association 1 1
CHD8-Related Disorders 1 1
CLCN4-related disorder 1 1
COL1A2-Related Disorder 1 1
COL2A1-Related Disorder 1 1
COL4A1-Related Disorder 1 1
COL6A1-related Disorder 1 1
CSNK2A1- Related Disorders 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
Carney complex 1 1
Carnitine palmitoyltransferase II deficiency 1 1
Catecholaminergic polymorphic ventricular tachycardia type 1 1 1
Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive 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 2D; Distal hereditary motor neuronopathy type 5 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 2q23.1 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 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 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 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 1 1
Congenital stationary night blindness 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
Cystic fibrosis 1 1
DCTN1-Related Disorder 1 1
DDX3X-Related Disorder 1 1
DNMT1-Related Disorder 1 1
DYNC1H1-related disorders 1 1
DYSF- Related Disorder 1 1
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2 1 1
Deficiency of iodide peroxidase 1 1
Deficiency of isobutyryl-CoA dehydrogenase 1 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 1 1
Diabetes mellitus type 2 1 1
Dihydropyrimidine dehydrogenase deficiency 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Hereditary myopathy 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
Duane syndrome type 1 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, 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, childhood absence 6 1 1
Epileptic encephalopathy, childhood-onset 1 1
Episodic ataxia type 1 1 1
Essential hypertension 1 1
Ethylmalonic encephalopathy 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 cardiomyopathy 1 1
Familial exudative vitreoretinopathy 1 1
Familial hemophagocytic lymphohistiocytosis 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
Fructose-biphosphatase deficiency 1 1
GABRA6-Related Disorder 1 1
GABRG2-Related Disorder 1 1
GATAD2B-Related Disorder 1 1
GLUT1 deficiency syndrome 2 1 1
GRIA3-Related Disorder 1 1
GRIN1-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
HIVEP2-Related Disorder 1 1
HSD17B10-Related Disorder 1 1
HSPB1-Related Disorder 1 1
HUWE1-Related Disorder 1 1
Hemochromatosis type 1 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
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 1 1
Hyperphosphatasia with mental retardation syndrome 2 1 1
Hypomyelination, global cerebral 1 1
Hypophosphatasia 1 1
Hypotrichosis 6 1 1
IL1RAPL1-Related Disorder 1 1
Ichthyosis vulgaris 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
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; 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
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; 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
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 1 1
MUTYH-associated polyposis 1 1
MYH2-related myopathy 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 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 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, 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, stereotypic movements, epilepsy, and/or cerebral malformations 1 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 1
Mental retardation-hypotonic facies syndrome X-linked, 1 1 1
Microcephalic osteodysplastic primordial dwarfism type 2 1 1
Mitochondrial DNA depletion syndrome 11 1 1
Mitochondrial complex I deficiency; Leigh syndrome 1 1
Mitochondrial-DNA disorder 1 1
Mucopolysaccharidosis, MPS-IV-B 1 1
Multiple cutaneous leiomyomas 1 1
Multiple epiphyseal dysplasia 2; Stickler syndrome, type 5 1 1
Multiple pterygium syndrome Escobar type; Lethal multiple pterygium syndrome 1 1
Muscle AMP deaminase deficiency 1 1
Myoclonic-atonic epilepsy 1 1
Myofibrillar myopathy, filamin C-related 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 1 1
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 1 1
NOTCH1-Related Disorders 1 1
NRXN-Related Disorder 1 1
Nemaline myopathy 1 1
Nephrogenic diabetes insipidus 1 1
Nephrogenic diabetes insipidus, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 1 1
Netherton syndrome 1 1
Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive 1 1
Neurodegeneration with brain iron accumulation 6 1 1
Neurofibromatosis, type 1 1 1
Niemann-Pick disease type C1 1 1
Niemann-Pick disease type C2 1 1
Nonsyndromic Hearing Loss, Recessive 1 1
Noonan syndrome 1 1
Noonan syndrome 6 1 1
Optic atrophy 1 1
Osteogenesis imperfecta 1 1
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient 1 1
Osteopetrosis autosomal recessive 1 1 1
PINK1-Related Parkinsonism 1 1
POLG- Related Disorder 1 1
POLG- Related Disorders 1 1
POLG-Related Disorders 1 1
Periodic fever syndrome 1 1
Periventricular nodular heterotopia 1 1 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1 1
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 1 1
Peutz-Jeghers syndrome 1 1
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 1 1
Pituitary hormone deficiency, combined 1 1 1
Pituitary hormone deficiency, combined 4 1 1
Polycystic kidney disease, adult type 1 1
Polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3 1 1
Pontocerebellar hypoplasia type 1A 1 1
Pontocerebellar hypoplasia, type 1c 1 1
Poretti-Boltshauser syndrome 1 1
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome 1 1
Primary hyperoxaluria, type II 1 1
Propionyl-CoA carboxylase deficiency 1 1
Pustular psoriasis, generalized 1 1
Pyruvate carboxylase deficiency 1 1
Pyruvate dehydrogenase E3-binding protein deficiency 1 1
RTEL1-related Disorders 1 1
Radial aplasia-thrombocytopenia syndrome 1 1
Refractory anemia with ringed sideroblasts (clinical) 1 1
Renal carnitine transport defect 1 1
Renal coloboma syndrome 1 1
Rubinstein-Taybi syndrome 1 1 1
SATB2-Related Disorder 1 1
SCN10A-Related Disorder 1 1
SCN1B-Related Disorder 1 1
SCN3A- Related Disorder 1 1
SCN4A-related disorder 1 1
SCN5A-related disorder 1 1
SCN8A-related disorder 1 1
SETBP1-Related Disorder 1 1
SHANK3-Related Disorder 1 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 1 1
SLC6A2-related disorder 1 1
SMS-Related Disorder 1 1
SQSTM1-related disorder 1 1
STAG1-Related Disorders 1 1
STAT1-Related Disorder 1 1
STRA6-Related Disorder 1 1
Schizophrenia; Autism spectrum disorder; Intellectual disability 1 1
Seckel syndrome 5; Primary autosomal recessive microcephaly 9 1 1
Segawa syndrome, autosomal recessive 1 1
Severe combined immunodeficiency disease 1 1
Severe myoclonic epilepsy in infancy 1 1
Severe myoclonic epilepsy in infancy; Seizure disorder 1 1
Short stature, developmental delay, and congenital heart defects 1 1
Siderius X-linked mental retardation syndrome 1 1
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1 1
Spastic paraplegia 11, autosomal recessive 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC 1 1
Spastic paraplegia 44, autosomal recessive 1 1
Spastic paraplegia 46, autosomal recessive 1 1
Spastic paraplegia 49, autosomal recessive 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1
Spherocytosis type 4; Renal tubular acidosis, distal, autosomal dominant; Renal tubular acidosis, distal, with hemolytic anemia 1 1
Spinal muscular atrophy 1 1
Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 1 1
Spinocerebellar ataxia 26 1 1
Spinocerebellar ataxia 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 1 1
Spondylometaphyseal dysplasia, megarbane-dagher-melki type 1 1
Susceptibility to severe cutaneous adverse reaction 1 1
TANGO2-Related disorder 1 1
TERT-associated disorder 1 1
TSC2-Related Disorder 1 1
TTN-Related Disorders 1 1
TTN-Related disorder 1 1
Tatton-Brown-rahman syndrome 1 1
Thiamine-responsive megaloblastic anemia 1 1
Transposition of the great arteries, dextro-looped 1 1 1
Treacher Collins syndrome 1 1 1
Tuberous sclerosis syndrome 1 1
Type A2 brachydactyly 1 1
Type B brachydactyly 1 1
USP9X related disorders 1 1
Verheij syndrome 1 1
Visceral heterotaxy 5, autosomal 1 1
Wieacker Wolff syndrome 1 1
X-linked intellectual disability syndrome 1 1
mtDNA-related disorders 1 1

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