ClinVar Miner

Variants from Genomics England Pilot Project, Genomics England

Location: United States  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 total
199 365 1 0 0 564

Gene and significance breakdown #

Total genes and gene combinations: 330
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
USH2A 15 4 0 19
ABCA4 7 10 0 16
SPG7 6 2 0 8
CACNA1A 1 5 0 6
DNAH5 2 4 0 6
GUCY2D 2 4 0 6
UMOD 6 0 0 6
ADAR 2 3 0 5
COL1A1 2 3 0 5
CRB1 2 3 0 5
OPA1 1 4 0 5
COL1A2 1 3 0 4
FA2H 0 4 0 4
FGFR1 3 1 0 4
MT-ATP6 1 3 0 4
MUTYH 4 0 0 4
MYH7 0 4 0 4
NF1 2 2 0 4
NPC1 4 0 0 4
PLA2G6 1 3 0 4
PROKR2 0 4 0 4
SACS 0 3 1 4
SPG11 0 4 0 4
SYNE1 2 2 0 4
TTN 0 4 0 4
AIRE 1 2 0 3
ANKRD11 3 0 0 3
CABP4 3 0 0 3
CYP7B1 0 3 0 3
DSP 0 3 0 3
GJA3 0 3 0 3
GPD1 0 3 0 3
MME 2 1 0 3
MYO7A 0 3 0 3
NPHS1 1 2 0 3
PDE6B 2 1 0 3
PDHA1 2 1 0 3
POLG, POLGARF 0 3 0 3
POLR3A 0 3 0 3
PRKCG 0 3 0 3
RHO 1 2 0 3
SGSH 3 0 0 3
TMC1 1 2 0 3
TULP1 2 1 0 3
WFS1 2 1 0 3
​intergenic 0 2 0 2
ACO2 0 2 0 2
ADA2 0 2 0 2
AGXT 2 0 0 2
ALG2 0 2 0 2
ASPH 0 2 0 2
ASPM 0 2 0 2
BBS1, ZDHHC24 2 0 0 2
CACNA1F 2 0 0 2
CC2D2A 2 0 0 2
CEP290 0 2 0 2
CNGB3 2 0 0 2
COL11A1 0 2 0 2
COL4A4 0 2 0 2
COL4A5 0 2 0 2
COQ2, LOC112997540 0 2 0 2
CRX 2 0 0 2
CRYAA 1 1 0 2
CRYBA1 1 1 0 2
DNAI1 2 0 0 2
DYNC1H1 0 2 0 2
DYSF 0 2 0 2
ERCC6 0 2 0 2
ERCC8 2 0 0 2
EVC 0 2 0 2
FAM161A 2 0 0 2
FBXL4 0 2 0 2
FECH 0 2 0 2
FGD4 0 2 0 2
FLAD1 2 0 0 2
FLG 0 2 0 2
GAMT 2 0 0 2
GFER 2 0 0 2
GMPPB 0 2 0 2
GPR143 0 2 0 2
HGSNAT 2 0 0 2
IFT140 0 2 0 2
IFT140, LOC105371046 2 0 0 2
INF2 1 1 0 2
ITPR1, LOC126806590 0 2 0 2
KCNV2 0 2 0 2
KIF1A 0 2 0 2
KIF5A 1 1 0 2
LRP2 0 2 0 2
LRP5 0 2 0 2
MT-ND1 1 1 0 2
NMNAT1 2 0 0 2
OCA2 0 2 0 2
PKD1 2 0 0 2
PKHD1 0 2 0 2
PKP2 1 1 0 2
POLR3B 2 0 0 2
POMGNT1, TSPAN1 2 0 0 2
PPA2 0 2 0 2
PROM1 1 1 0 2
PRPF31 1 1 0 2
PRPH2 0 2 0 2
PSAP 0 2 0 2
PTPN11 1 1 0 2
PYGM 0 2 0 2
RAF1 1 1 0 2
RBCK1 0 2 0 2
RSPH1 0 2 0 2
SCN5A 1 1 0 2
SETX 0 2 0 2
SH3TC2 2 0 0 2
SLC12A3 2 0 0 2
SLC2A1 1 1 0 2
SPAST 0 2 0 2
SRD5A2 0 2 0 2
STXBP1 1 1 0 2
TECPR2 0 2 0 2
TMPRSS3 0 2 0 2
TNNT2 0 2 0 2
TYR 0 2 0 2
VPS13B 0 2 0 2
AARS1 1 0 0 1
ABCC8 0 1 0 1
ABHD12, LOC126863008 0 1 0 1
ACO2, LOC130067544 0 1 0 1
ACTA2 1 0 0 1
ADAM9 1 0 0 1
ADCY5 0 1 0 1
AGBL5 0 1 0 1
AHI1 1 0 0 1
ALG1 0 1 0 1
ALG11, LOC130009841 0 1 0 1
ALG11, UTP14C 0 1 0 1
ALG13 1 0 0 1
ALPL 0 1 0 1
ANOS1 1 0 0 1
ARHGEF18 0 1 0 1
ARHGEF9 0 1 0 1
ARX 0 1 0 1
ASXL3 1 0 0 1
ATAD3A 1 0 0 1
ATM 0 1 0 1
ATP1A3 1 0 0 1
ATP7A 0 1 0 1
B4GALNT1 1 0 0 1
BAG3 0 1 0 1
BBS1 0 1 0 1
BBS2 0 1 0 1
BBS4 0 1 0 1
BCOR 1 0 0 1
BEST1 1 0 0 1
BICD2 0 1 0 1
BOLA3 0 1 0 1
C1QTNF5, MFRP 1 0 0 1
CAPN1 0 1 0 1
CARD11 0 1 0 1
CARD14, SGSH 0 1 0 1
CASR 0 1 0 1
CCDST, FLG 1 0 0 1
CCNH, RASA1 0 1 0 1
CDH23 0 1 0 1
CDKL5 0 1 0 1
CDKL5, RS1 1 0 0 1
CEP78 0 1 0 1
CERKL 0 1 0 1
CHEK2 0 1 0 1
CHM 0 1 0 1
CHROMR, PRKRA 1 0 0 1
CIZ1, DNM1 0 1 0 1
CLCN1 0 1 0 1
COL11A2 0 1 0 1
COL12A1 0 1 0 1
COL3A1 0 1 0 1
COL6A1 0 1 0 1
COL6A2 0 1 0 1
COQ8B 0 1 0 1
COX6A1 0 1 0 1
CRYAB 0 1 0 1
CRYGS 0 1 0 1
CTNNB1, LOC126806659 1 0 0 1
CTPS1 1 0 0 1
CUX2 0 1 0 1
CWC27 0 1 0 1
CYGB, PRCD 1 0 0 1
CYP1B1 1 0 0 1
CYP21A2, LOC106780800 0 1 0 1
DCX 0 1 0 1
DDX3X 0 1 0 1
DES 0 1 0 1
DMD 0 1 0 1
DNM2 1 0 0 1
DSG2 0 1 0 1
EBF3 0 1 0 1
EMD 1 0 0 1
EPHA2 0 1 0 1
EXOSC3 0 1 0 1
EYS 0 1 0 1
FBN1 0 1 0 1
FGF12 0 1 0 1
FHL1 1 0 0 1
FZD4, PRSS23 0 1 0 1
GJA1 0 1 0 1
GJB2 1 0 0 1
GNA11 0 1 0 1
GNB1 0 1 0 1
GNE 0 1 0 1
GRIA2 0 1 0 1
HGD 0 1 0 1
HIVEP2 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 1 0 1
HPRT1 1 0 0 1
IDH1 0 1 0 1
JMJD8, STUB1 0 1 0 1
KCNH2 0 1 0 1
KCNQ4 0 1 0 1
KDM5B 0 1 0 1
KIF1C 1 0 0 1
KMT2A 1 0 0 1
KMT2B 0 1 0 1
KMT2D 0 1 0 1
LHCGR, STON1-GTF2A1L 0 1 0 1
LITAF 0 1 0 1
LOC101928008, SBF2 0 1 0 1
LOC126806433, TTN 0 1 0 1
LOC126861898, MYH7 0 1 0 1
LOC126862088, TRPM1 1 0 0 1
LOC129998796, PEX1 0 1 0 1
LOC130059818, SPG7 0 1 0 1
LOC130067862, SCO2, TYMP 1 0 0 1
LZTR1 0 1 0 1
MAP2K1 1 0 0 1
MEA1, PPP2R5D 0 1 0 1
MED13L 0 1 0 1
MEN1 0 1 0 1
MFN2 1 0 0 1
MFSD8 0 1 0 1
MIR9718, SIX1 0 1 0 1
MORC2 0 1 0 1
MPV17 0 1 0 1
MPZ 0 1 0 1
MRPL44 0 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 0 1 0 1
MT-ND3 0 1 0 1
MT-ND4 1 0 0 1
MT-ND6 1 0 0 1
MYBPC3 0 1 0 1
MYH9 1 0 0 1
NEB 1 0 0 1
NEB, RIF1 1 0 0 1
NIPAL4 1 0 0 1
NOD2 0 1 0 1
NOTCH3 0 1 0 1
NR0B1 0 1 0 1
NSD1 0 1 0 1
NYX 0 1 0 1
OTX2 1 0 0 1
PARK7 0 1 0 1
PC 0 1 0 1
PCARE 0 1 0 1
PCDH19 0 1 0 1
PEX1 0 1 0 1
PIK3CA 0 1 0 1
PITX2 0 1 0 1
PKD2 1 0 0 1
PLP1, RAB9B 0 1 0 1
PMP22 0 1 0 1
PMS2 1 0 0 1
PNPT1 0 1 0 1
POLR2F, SOX10 1 0 0 1
PRPF8 1 0 0 1
PRPS1 0 1 0 1
PRUNE1 0 1 0 1
PTEN 1 0 0 1
PTPRQ 0 1 0 1
PURA 0 1 0 1
PUS7 0 1 0 1
RBP3 0 1 0 1
REEP1 0 1 0 1
RET 0 1 0 1
RIT1 0 1 0 1
RLIM 0 1 0 1
RNASEH2B 1 0 0 1
RP2 1 0 0 1
RYR2 0 1 0 1
SCN2A 0 1 0 1
SDHA 0 1 0 1
SERAC1 1 0 0 1
SETBP1 0 1 0 1
SLC16A1 0 1 0 1
SLC17A5 0 1 0 1
SLC20A2 0 1 0 1
SLC3A1 0 1 0 1
SLC45A2 1 0 0 1
SLC4A11 1 0 0 1
SLC7A9 1 0 0 1
SMC1A 0 1 0 1
SMCHD1 0 1 0 1
SNRNP200 1 0 0 1
SORD 0 1 0 1
SOX5 1 0 0 1
SPAG1 0 1 0 1
SPTAN1 0 1 0 1
SPTB 0 1 0 1
SPTLC1 0 1 0 1
SRD5A3 1 0 0 1
STAR 1 0 0 1
STIM1 0 1 0 1
STK11 1 0 0 1
STUB1 0 1 0 1
SUFU 0 1 0 1
SYT2 1 0 0 1
TBL1XR1 0 1 0 1
TCN2 1 0 0 1
TFG 0 1 0 1
TMEM240 0 1 0 1
TRPM1 0 1 0 1
TRPV3 0 1 0 1
TRPV4 0 1 0 1
TSC2 0 1 0 1
TSEN54 0 1 0 1
TUBB4A 0 1 0 1
TWNK 1 0 0 1
UBAP1 0 1 0 1
UBE3B 0 1 0 1
VPS13A 1 0 0 1
WASHC5 0 1 0 1
ZBTB20 0 1 0 1
ZEB2 0 1 0 1
ZFYVE26 0 1 0 1
ZSWIM6 0 1 0 1

Condition and significance breakdown #

Total conditions: 319
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Condition pathogenic likely pathogenic uncertain significance total
Retinitis pigmentosa 19 6 9 0 15
Retinitis pigmentosa 39 9 2 0 11
Hereditary spastic paraplegia 7 6 3 0 9
Leber optic atrophy 4 5 0 9
Osteogenesis imperfecta, perinatal lethal 3 6 0 9
Usher syndrome type 2A 7 2 0 9
Familial juvenile hyperuricemic nephropathy type 1 6 0 0 6
Primary ciliary dyskinesia 3 2 4 0 6
Spinocerebellar ataxia type 6 1 5 0 6
Aicardi-Goutieres syndrome 6 2 3 0 5
Hypertrophic cardiomyopathy 1 0 5 0 5
Retinitis pigmentosa 12 2 3 0 5
Autosomal recessive Parkinson disease 14 1 3 0 4
Autosomal recessive ataxia, Beauce type 2 2 0 4
Charlevoix-Saguenay spastic ataxia 0 3 1 4
Dilated cardiomyopathy 1G 0 4 0 4
Familial adenomatous polyposis 2 4 0 0 4
Hereditary spastic paraplegia 11 0 4 0 4
Hereditary spastic paraplegia 35 0 4 0 4
Hypogonadotropic hypogonadism 2 with or without anosmia 3 1 0 4
Hypogonadotropic hypogonadism 3 with or without anosmia 0 4 0 4
Leber congenital amaurosis 1 0 4 0 4
Mucopolysaccharidosis, MPS-III-A 3 1 0 4
Niemann-Pick disease, type C1 4 0 0 4
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 1 3 0 4
Retinitis pigmentosa 80 2 2 0 4
Age related macular degeneration 2 2 1 0 3
Autosomal dominant nonsyndromic hearing loss 36 1 2 0 3
Autosomal recessive nonsyndromic hearing loss 2 0 3 0 3
Bardet-Biedl syndrome 1 2 1 0 3
Cataract 14 multiple types 0 3 0 3
Charcot-Marie-Tooth disease axonal type 2T 2 1 0 3
Cone-rod dystrophy 6 2 1 0 3
Cone-rod synaptic disorder, congenital nonprogressive 3 0 0 3
Finnish congenital nephrotic syndrome 1 2 0 3
Hereditary spastic paraplegia 5A 0 3 0 3
Ichthyosis vulgaris 1 2 0 3
Infantile cerebellar-retinal degeneration 0 3 0 3
KBG syndrome 3 0 0 3
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 3 0 3
Polyglandular autoimmune syndrome, type 1 1 2 0 3
Progressive sclerosing poliodystrophy 0 3 0 3
Pyruvate dehydrogenase E1-alpha deficiency 2 1 0 3
Retinitis pigmentosa 14 2 1 0 3
Retinitis pigmentosa 40 2 1 0 3
Spinocerebellar ataxia type 14 0 3 0 3
Transient infantile hypertriglyceridemia and hepatosteatosis 0 3 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 2 0 2
ALG11-congenital disorder of glycosylation 0 2 0 2
ALG2-congenital disorder of glycosylation 0 2 0 2
Achromatopsia 3 2 0 0 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 2 0 2
Arrhythmogenic right ventricular dysplasia 9 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 8 0 2 0 2
Autosomal recessive spinocerebellar ataxia 16 0 2 0 2
Bardet-Biedl syndrome 14 0 2 0 2
Benign familial hematuria 0 2 0 2
COACH syndrome 1 2 0 0 2
Cataract 10 multiple types 1 1 0 2
Cataract 16 multiple types 0 2 0 2
Cataract 9 multiple types 1 1 0 2
Charcot-Marie-Tooth disease axonal type 2O 0 2 0 2
Charcot-Marie-Tooth disease type 4C 2 0 0 2
Charcot-Marie-Tooth disease type 4H 0 2 0 2
Childhood onset GLUT1 deficiency syndrome 2 1 1 0 2
Choroideremia 0 2 0 2
Cockayne syndrome type 1 2 0 0 2
Cockayne syndrome type 2 0 2 0 2
Coenzyme Q10 deficiency, primary, 1 0 2 0 2
Cohen syndrome 0 2 0 2
Combined PSAP deficiency 0 2 0 2
Cone dystrophy with supernormal rod response 0 2 0 2
Cone-rod dystrophy 12 1 1 0 2
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2 0 0 2
Congenital stationary night blindness 1C 1 1 0 2
Congenital stationary night blindness autosomal dominant 1 0 2 0 2
Cystinuria 1 1 0 2
Deficiency of guanidinoacetate methyltransferase 2 0 0 2
Developmental and epileptic encephalopathy, 4 1 1 0 2
Donnai-Barrow syndrome 0 2 0 2
Ellis-van Creveld syndrome 0 2 0 2
Exudative vitreoretinopathy 4 0 2 0 2
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 2 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 2
Focal segmental glomerulosclerosis 5 1 1 0 2
Glycogen storage disease, type V 0 2 0 2
Hereditary spastic paraplegia 10 1 1 0 2
Hereditary spastic paraplegia 30 0 2 0 2
Hereditary spastic paraplegia 4 0 2 0 2
Hereditary spastic paraplegia 49 0 2 0 2
Hypertrophic cardiomyopathy 2 0 2 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2 0 0 2
Kartagener syndrome 2 0 0 2
Leber congenital amaurosis 9 2 0 0 2
Long QT syndrome 3 1 1 0 2
Microcephaly 5, primary, autosomal recessive 0 2 0 2
Mitochondrial DNA depletion syndrome 13 0 2 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 2 0 2
Myopathy with abnormal lipid metabolism 2 0 0 2
Nemaline myopathy 2 2 0 0 2
Neurofibromatosis, type 1 0 2 0 2
Neurofibromatosis-Noonan syndrome 2 0 0 2
Noonan syndrome 1 1 1 0 2
Ocular albinism, type I 0 2 0 2
Patterned macular dystrophy 1 0 2 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 0 2 0 2
Polycystic kidney disease 4 0 2 0 2
Polycystic kidney disease, adult type 2 0 0 2
Polyglucosan body myopathy type 1 0 2 0 2
Primary ciliary dyskinesia 24 0 2 0 2
Primary hyperoxaluria, type I 2 0 0 2
Protoporphyria, erythropoietic, 1 0 2 0 2
Retinitis pigmentosa 11 1 1 0 2
Retinitis pigmentosa 28 2 0 0 2
Retinitis pigmentosa 73 2 0 0 2
Retinitis pigmentosa 76 2 0 0 2
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 0 2 0 2
Spinocerebellar ataxia type 29 0 2 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 2 0 2
Stickler syndrome type 2 0 2 0 2
Sudden cardiac failure, infantile 0 2 0 2
Type 2 diabetes mellitus 2 0 0 2
Tyrosinase-positive oculocutaneous albinism 0 2 0 2
Ullrich congenital muscular dystrophy 1A 0 2 0 2
Vasculitis due to ADA2 deficiency 0 2 0 2
X-linked Alport syndrome 0 2 0 2
X-linked cone-rod dystrophy 3 2 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 1
ALG1-congenital disorder of glycosylation 0 1 0 1
Adult hypophosphatasia 0 1 0 1
Aicardi-Goutieres syndrome 2 1 0 0 1
Alkaptonuria 0 1 0 1
Aortic aneurysm, familial thoracic 6 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 1
Arrhythmogenic right ventricular dysplasia 2 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Arts syndrome 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 0 1
Autosomal dominant hypocalcemia 2 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 17 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 2A 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 1 0 1
Autosomal recessive congenital ichthyosis 6 1 0 0 1
Autosomal recessive early-onset Parkinson disease 7 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 12 0 1 0 1
Autosomal recessive spastic paraplegia type 76 0 1 0 1
Axenfeld-Rieger syndrome type 1 0 1 0 1
BENTA disease 0 1 0 1
Bardet-Biedl syndrome 2 0 1 0 1
Bardet-Biedl syndrome 4 0 1 0 1
Becker muscular dystrophy 0 1 0 1
Blau syndrome 0 1 0 1
Branchiootic syndrome 3 0 1 0 1
Capillary malformation-arteriovenous malformation 1 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 1
Cataract 20 multiple types 0 1 0 1
Cataract 6 multiple types 0 1 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2N 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate B 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 1 0 1
Charcot-Marie-Tooth disease recessive intermediate D 0 1 0 1
Charcot-Marie-Tooth disease type 1C 0 1 0 1
Charcot-Marie-Tooth disease type 4B2 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 0 1
Charcot-Marie-Tooth disease, type IA 0 1 0 1
Chorea-acanthocytosis 1 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 1 0 1
Combined oxidative phosphorylation defect type 13 0 1 0 1
Cone-rod dystrophy 2 1 0 0 1
Cone-rod dystrophy 9 1 0 0 1
Cone-rod dystrophy and hearing loss 1 0 1 0 1
Congenital adrenal hypoplasia, X-linked 0 1 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 1 0 0 1
Congenital myasthenic syndrome 7 1 0 0 1
Congenital myotonia, autosomal dominant form 0 1 0 1
Congenital stationary night blindness 1A 0 1 0 1
Corneal dystrophy-perceptive deafness syndrome 1 0 0 1
Cutis laxa, X-linked 0 1 0 1
Desmin-related myofibrillar myopathy 0 1 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 1
Developmental and epileptic encephalopathy, 31 0 1 0 1
Developmental and epileptic encephalopathy, 36 1 0 0 1
Developmental and epileptic encephalopathy, 47 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 1
Developmental and epileptic encephalopathy, 67 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 1 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 1
Dilated cardiomyopathy 1HH 0 1 0 1
Dilated cardiomyopathy 1NN 0 1 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 1 0 1
Dystonia 16 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 1
Exudative vitreoretinopathy 1 0 1 0 1
Facioscapulohumeral muscular dystrophy 2 0 1 0 1
Familial cancer of breast 0 1 0 1
Familial meningioma 0 1 0 1
Germ cell tumor of testis 1 0 0 1
Glaucoma 3A 1 0 0 1
Glioma susceptibility 1 0 1 0 1
Glioma susceptibility 2 1 0 0 1
Gonadotropin-independent familial sexual precocity 0 1 0 1
Harel-Yoon syndrome 1 0 0 1
Hearing loss, autosomal dominant 73 0 1 0 1
Hereditary motor and sensory neuropathy with optic atrophy 1 0 0 1
Hereditary spastic paraplegia 15 0 1 0 1
Hereditary spastic paraplegia 2 0 1 0 1
Hereditary spastic paraplegia 26 1 0 0 1
Hereditary spastic paraplegia 57 0 1 0 1
Hereditary spherocytosis type 2 0 1 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 1
Hogue-Janssens syndrome 1 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 1
Hypertrophic cardiomyopathy 4 0 1 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 1
Idiopathic basal ganglia calcification 1 0 1 0 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 1 0 1
Infantile hypophosphatasia 0 1 0 1
Infantile onset spinocerebellar ataxia 1 0 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 1 0 1
Intellectual disability, X-linked 102 0 1 0 1
Intellectual disability, X-linked 61 0 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 1 0 1
Intellectual disability, X-linked, with or without seizures, arx-related 0 1 0 1
Intellectual disability, autosomal dominant 42 0 1 0 1
Intellectual disability, autosomal dominant 43 1 0 0 1
Intellectual disability, autosomal recessive 65 0 1 0 1
Isolated focal non-epidermolytic palmoplantar keratoderma 0 1 0 1
Joubert syndrome 3 1 0 0 1
Juvenile retinoschisis 1 0 0 1
Kabuki syndrome 1 0 1 0 1
Kahrizi syndrome 1 0 0 1
Knuckle pads, deafness AND leukonychia syndrome 1 0 0 1
Lamb-Shaffer syndrome 1 0 0 1
Late-onset retinal degeneration 1 0 0 1
Leber congenital amaurosis 7 1 0 0 1
Lesch-Nyhan syndrome 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 1
Long QT syndrome 2 0 1 0 1
Lynch syndrome 4 1 0 0 1
Macular dystrophy with central cone involvement 0 1 0 1
Malignant tumor of prostate 0 1 0 1
Marfan syndrome 0 1 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 0 1
Metabolic myopathy due to lactate transporter defect 0 1 0 1
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 1 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 1
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 0 1 0 1
Mitochondrial complex I deficiency 0 1 0 1
Mowat-Wilson syndrome 0 1 0 1
Multiple endocrine neoplasia, type 1 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 2 0 1 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 1 0 1
Myopathy, tubular aggregate, 1 0 1 0 1
Neonatal severe primary hyperparathyroidism 0 1 0 1
Nephrotic syndrome, type 9 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 1 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 0 1 0 1
Neuronopathy, distal hereditary motor, type 5B 0 1 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 0 1 0 1
Noonan syndrome 5 1 0 0 1
Noonan syndrome 8 0 1 0 1
Oculocerebrofacial syndrome, Kaufman type 0 1 0 1
Oculocutaneous albinism type 4 1 0 0 1
Oculodentodigital dysplasia 0 1 0 1
Oculofaciocardiodental syndrome 1 0 0 1
PCWH syndrome 1 0 0 1
PHARC syndrome 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 1
Paragangliomas 5 0 1 0 1
Pierpont syndrome 0 1 0 1
Polycystic kidney disease 2 1 0 0 1
Pontocerebellar hypoplasia type 1B 0 1 0 1
Pontocerebellar hypoplasia type 4 0 1 0 1
Primary ciliary dyskinesia 28 0 1 0 1
Primrose syndrome 0 1 0 1
Pyruvate carboxylase deficiency 0 1 0 1
Retinitis pigmentosa 13 1 0 0 1
Retinitis pigmentosa 2 1 0 0 1
Retinitis pigmentosa 25 0 1 0 1
Retinitis pigmentosa 26 0 1 0 1
Retinitis pigmentosa 33 1 0 0 1
Retinitis pigmentosa 36 1 0 0 1
Retinitis pigmentosa 4 1 0 0 1
Retinitis pigmentosa 54 0 1 0 1
Retinitis pigmentosa 66 0 1 0 1
Retinitis pigmentosa 75 0 1 0 1
Retinitis pigmentosa 78 0 1 0 1
Ritscher-Schinzel syndrome 1 0 1 0 1
Schinzel-Giedion syndrome 0 1 0 1
Schwannomatosis 2 0 1 0 1
Severe combined immunodeficiency due to CTPS1 deficiency 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Sialic acid storage disease, severe infantile type 0 1 0 1
Sialuria 0 1 0 1
Sotos syndrome 0 1 0 1
Spastic ataxia 2 1 0 0 1
Spastic paraplegia 80, autosomal dominant 0 1 0 1
Spinocerebellar ataxia type 21 0 1 0 1
Spondylometaphyseal dysplasia, Kozlowski type 0 1 0 1
Syndromic microphthalmia type 5 1 0 0 1
Torsion dystonia 4 0 1 0 1
Transcobalamin II deficiency 1 0 0 1
Tuberous sclerosis 2 0 1 0 1
Vitelliform macular dystrophy 2 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 1
X-linked myopathy with postural muscle atrophy 1 0 0 1

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