ClinVar Miner

Variants from Division of Human Genetics, Children's Hospital of Philadelphia

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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
98 73 137 1 0 1 310

Gene and significance breakdown #

Total genes and gene combinations: 203
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
MYO15A 4 1 5 0 1 11
OTOG 0 1 7 0 0 8
LOXHD1 0 1 6 0 0 7
GJB2 5 0 0 0 0 5
PAH 3 2 0 0 0 5
AKAP9 0 0 4 0 0 4
RYR2 0 0 4 0 0 4
SCN5A 2 0 2 0 0 4
ABCA4 3 0 0 0 0 3
AGL 1 2 0 0 0 3
CD36 0 2 0 1 0 3
CFTR 3 0 0 0 0 3
DHCR7 2 1 0 0 0 3
DSP 0 1 2 0 0 3
FOXF1 1 2 0 0 0 3
G6PD 3 0 0 0 0 3
OTOF 0 0 3 0 0 3
PCDH15 1 0 2 0 0 3
POLG, POLGARF 2 1 0 0 0 3
STRC 0 1 2 0 0 3
TTN 0 1 2 0 0 3
USH2A 0 1 2 0 0 3
WHRN 0 0 3 0 0 3
ANK2 0 0 2 0 0 2
ATM 2 0 0 0 0 2
BBS10 1 1 0 0 0 2
BTD 2 0 0 0 0 2
CACNA1D 0 1 1 0 0 2
CDH23 0 0 2 0 0 2
CYP17A1 2 0 0 0 0 2
DNAH5 1 1 0 0 0 2
GNAS 0 0 2 0 0 2
ITGA2B 0 0 2 0 0 2
KCNB1 0 1 1 0 0 2
KCNQ1 1 1 0 0 0 2
LDLR 1 1 0 0 0 2
MMACHC 1 0 1 0 0 2
MUTYH 1 1 0 0 0 2
MYH14 0 0 2 0 0 2
MYH7 1 0 1 0 0 2
MYPN 0 0 2 0 0 2
NEXN 0 0 2 0 0 2
NPC1 2 0 0 0 0 2
PYGM 1 1 0 0 0 2
RASGRP2 0 1 1 0 0 2
RBM20 0 0 2 0 0 2
RNASEH2C 0 1 1 0 0 2
RUNX1 0 1 1 0 0 2
SERPINA1 2 0 0 0 0 2
SHANK3 0 0 2 0 0 2
SI 2 0 0 0 0 2
SLC12A3 2 0 0 0 0 2
SLC26A4 2 0 0 0 0 2
TBCEL-TECTA, TECTA 0 0 2 0 0 2
TMC1 0 0 2 0 0 2
TPRN 0 0 2 0 0 2
TRPM4 0 0 2 0 0 2
VCL 0 0 2 0 0 2
VWF 0 0 2 0 0 2
WNT10A 1 1 0 0 0 2
AARS2, POLR1C 0 0 1 0 0 1
ABCA3 0 1 0 0 0 1
ABCB11 1 0 0 0 0 1
ACADSB 1 0 0 0 0 1
ACADVL 0 1 0 0 0 1
ACTB 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 0 1 0 0 0 1
ADGRV1 0 0 1 0 0 1
ALDOB 0 1 0 0 0 1
ALMS1 0 0 1 0 0 1
ALPL 0 1 0 0 0 1
AP4S1 0 1 0 0 0 1
APC 1 0 0 0 0 1
ARSA 0 0 1 0 0 1
ASPA, SPATA22 1 0 0 0 0 1
ASXL3 0 1 0 0 0 1
ATM, C11orf65 1 0 0 0 0 1
ATP7B 0 1 0 0 0 1
BRCA1 1 0 0 0 0 1
CACNB2 0 0 1 0 0 1
CAV3, OXTR 0 0 1 0 0 1
CCDST, FLG 1 0 0 0 0 1
CENPJ, RNF17 0 1 0 0 0 1
CHAT 0 0 1 0 0 1
CHD4 0 1 0 0 0 1
CHRNA4 0 0 1 0 0 1
CHRNA4, LOC126863087 0 0 1 0 0 1
CLCN1 0 1 0 0 0 1
COCH, LOC100506071 0 1 0 0 0 1
COL11A2 0 0 1 0 0 1
COL3A1 0 0 1 0 0 1
COL6A2 0 0 1 0 0 1
COL6A3 0 1 0 0 0 1
COL7A1 1 0 0 0 0 1
COL9A2 0 0 1 0 0 1
CPS1 0 1 0 0 0 1
CYP1B1 1 0 0 0 0 1
CYP24A1 1 0 0 0 0 1
DSC2 0 0 1 0 0 1
DSG2 0 0 1 0 0 1
DYNC1H1 0 0 1 0 0 1
EDAR, RANBP2 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 1
ENAM 0 1 0 0 0 1
ESPN 0 0 1 0 0 1
EXOSC3 1 0 0 0 0 1
EYA1 0 1 0 0 0 1
FANCC 0 1 0 0 0 1
FBLN5 0 0 1 0 0 1
FERMT3 0 0 1 0 0 1
FGF3 1 0 0 0 0 1
FLG 0 1 0 0 0 1
GABRA1 0 1 0 0 0 1
GALT 1 0 0 0 0 1
GATAD1, PEX1 1 0 0 0 0 1
GBA1, LOC106627981 1 0 0 0 0 1
GFI1B 0 0 1 0 0 1
GLB1 0 1 0 0 0 1
GLDC 1 0 0 0 0 1
GNE 1 0 0 0 0 1
GP1BA 0 0 1 0 0 1
GP9 0 1 0 0 0 1
GPHN 0 0 1 0 0 1
GPHN, RDH12 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HEXA 1 0 0 0 0 1
HGF 0 0 1 0 0 1
HNRNPU 1 0 0 0 0 1
HSD17B10 0 0 1 0 0 1
HSD17B4 0 1 0 0 0 1
IDUA 1 0 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 1
KANK1 0 0 1 0 0 1
KCNE1 0 1 0 0 0 1
KCNH2 1 0 0 0 0 1
LIPA 1 0 0 0 0 1
LOC126806431, TTN 0 0 1 0 0 1
LOC127814297, POU4F3 0 0 1 0 0 1
LOC130055403, TINF2 0 1 0 0 0 1
MAN1B1 1 0 0 0 0 1
MARVELD2 0 0 1 0 0 1
MCCC2 0 0 1 0 0 1
MFSD2A 0 0 1 0 0 1
MLH1 0 1 0 0 0 1
MMAA 1 0 0 0 0 1
MTFMT 1 0 0 0 0 1
MYBPC3 0 1 0 0 0 1
MYH11, NDE1 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYH9 1 0 0 0 0 1
MYO3A 0 0 1 0 0 1
MYO6 0 0 1 0 0 1
MYO7A 0 0 1 0 0 1
NBEAL2 0 0 1 0 0 1
NDUFAF5 0 1 0 0 0 1
NDUFS1 0 0 1 0 0 1
NGLY1 0 0 1 0 0 1
NPHS1 1 0 0 0 0 1
NR2E3 1 0 0 0 0 1
NR2F1 0 0 1 0 0 1
OBSL1 1 0 0 0 0 1
OCA2 0 1 0 0 0 1
OTOA 0 0 1 0 0 1
PEX1 1 0 0 0 0 1
PEX7 1 0 0 0 0 1
PIGT 0 0 1 0 0 1
PKHD1 0 1 0 0 0 1
PLEC 0 1 0 0 0 1
PLXNA3 0 0 1 0 0 1
PMM2 1 0 0 0 0 1
PNKP 0 0 1 0 0 1
POLR3A 0 0 1 0 0 1
PTCHD1 0 0 1 0 0 1
RAB27A 0 1 0 0 0 1
RAD51C 1 0 0 0 0 1
RANBP2 0 0 1 0 0 1
RAPSN 1 0 0 0 0 1
RHO 1 0 0 0 0 1
RYR1 0 1 0 0 0 1
SELENON 1 0 0 0 0 1
SGCD 0 0 1 0 0 1
SIX1 0 1 0 0 0 1
SLC17A5 0 1 0 0 0 1
SLC25A13 0 1 0 0 0 1
SLC26A2 0 1 0 0 0 1
SLC2A10 0 1 0 0 0 1
SMPX 0 1 0 0 0 1
SNTA1 0 0 1 0 0 1
SPG11 0 0 1 0 0 1
SQSTM1 0 1 0 0 0 1
STX11 0 1 0 0 0 1
STXBP2 0 0 1 0 0 1
TAF1 0 0 1 0 0 1
TG 1 0 0 0 0 1
TMPO 0 0 1 0 0 1
TMPRSS3 0 0 1 0 0 1
TNFRSF13B 1 0 0 0 0 1
TNNI3 0 1 0 0 0 1
USH1C 0 1 0 0 0 1
WDR45 1 0 0 0 0 1
WFS1 0 0 1 0 0 1
ZIC2 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 216
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Condition pathogenic likely pathogenic uncertain significance likely benign not provided total
Autosomal recessive nonsyndromic hearing loss 3 4 1 5 0 1 11
Autosomal recessive nonsyndromic hearing loss 18B 0 1 7 0 0 8
Autosomal recessive nonsyndromic hearing loss 77 0 1 6 0 0 7
Phenylketonuria 3 2 0 0 0 5
Alveolar capillary dysplasia with pulmonary venous misalignment 1 3 0 0 0 4
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 0 0 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 1A 4 0 0 0 0 4
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 1 3 0 0 4
Long QT syndrome 11 0 0 4 0 0 4
Long QT syndrome 3 2 0 2 0 0 4
Ataxia-telangiectasia syndrome 3 0 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 16 0 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 1 0 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 0 0 3 0 0 3
Cone-rod dystrophy 3 3 0 0 0 0 3
Cystic fibrosis 3 0 0 0 0 3
Glycogen storage disease type III 1 2 0 0 0 3
Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 0 2 0 1 0 3
Progressive sclerosing poliodystrophy 2 1 0 0 0 3
Smith-Lemli-Opitz syndrome 2 1 0 0 0 3
Usher syndrome type 2A 0 1 2 0 0 3
Aicardi-Goutieres syndrome 3 0 1 1 0 0 2
Alpha-1-antitrypsin deficiency 2 0 0 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia 8 0 0 2 0 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 4 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 79 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 0 0 2 0 0 2
Biotinidase deficiency 2 0 0 0 0 2
Cardiac arrhythmia, ankyrin-B-related 0 0 2 0 0 2
Cobalamin C disease 1 0 1 0 0 2
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia 0 0 2 0 0 2
Deficiency of steroid 17-alpha-monooxygenase 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 26 0 1 1 0 0 2
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 0 0 2 0 0 2
Dilated cardiomyopathy 1DD 0 0 2 0 0 2
Dilated cardiomyopathy 1KK 0 0 2 0 0 2
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 2 0 0 2
Familial adenomatous polyposis 2; Neoplasm of stomach 1 1 0 0 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 2
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 1 1 0 0 2
Hypercholesterolemia, familial, 1 1 1 0 0 0 2
Ichthyosis vulgaris 1 1 0 0 0 2
Long QT syndrome 1 1 1 0 0 0 2
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 0 2
Mitochondrial complex I deficiency 0 1 1 0 0 2
Niemann-Pick disease, type C1 2 0 0 0 0 2
Odonto-onycho-dermal dysplasia; SchC6pf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 1 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 0 2
Phelan-McDermid syndrome 0 0 2 0 0 2
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 0 0 2 0 0 2
Platelet-type bleeding disorder 18 0 1 1 0 0 2
Primary ciliary dyskinesia 3 1 1 0 0 0 2
Progressive familial heart block type IB 0 0 2 0 0 2
Sucrase-isomaltase deficiency 2 0 0 0 0 2
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 0 0 2 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 0 0 1
3M syndrome 2 1 0 0 0 0 1
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 0 1 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 1 0 0 0 1
Alstrom syndrome 0 0 1 0 0 1
Amelogenesis imperfecta type 1C 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 2 0 0 1 0 0 1
Arterial tortuosity syndrome 0 1 0 0 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 0 1
Autism; Microtia 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 31 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 0 0 1
Autosomal recessive polycystic kidney disease 0 1 0 0 0 1
Baraitser-Winter syndrome 1 0 0 1 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 0 1
Bardet-Biedl syndrome 10 0 1 0 0 0 1
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 1 0 0 0 0 1
Bernard Soulier syndrome 0 1 0 0 0 1
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 0 0 1 0 0 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 0 1 0 0 0 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 0 0 1 0 0 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 1 0 0 1
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 0 1 0 0 0 1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 0 1
Childhood hypophosphatasia 0 1 0 0 0 1
Citrullinemia type II; Neonatal intrahepatic cholestasis due to citrin deficiency 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 15 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 8 0 0 1 0 0 1
Congenital disorder of deglycosylation 0 0 1 0 0 1
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 0 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 1 0 0 0 1
Congenital stationary night blindness autosomal dominant 1 1 0 0 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 1 0 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 0 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 1
Dilated cardiomyopathy 1L 0 0 1 0 0 1
Dilated cardiomyopathy 1T 0 0 1 0 0 1
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 0 1 0 0 0 1
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; beta Thalassemia 1 0 0 0 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 0 0 1 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 0 1 0 0 0 1
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5 0 0 1 0 0 1
Familial acute necrotizing encephalopathy 0 0 1 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 4 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 0 1 0 0 1
Familial infantile myasthenia 0 0 1 0 0 1
Fanconi anemia complementation group C 0 1 0 0 0 1
Fanconi anemia complementation group O 1 0 0 0 0 1
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 1 0 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 0 1
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 1 0 0 0 1
GNE myopathy 1 0 0 0 0 1
GNE myopathy; Sialuria 1 0 0 0 0 1
Gaucher disease type I 1 0 0 0 0 1
Glaucoma 3A; Irido-corneo-trabecular dysgenesis 1 0 0 0 0 1
Gray platelet syndrome 0 0 1 0 0 1
Griscelli syndrome type 2 0 1 0 0 0 1
HSD10 mitochondrial disease 0 0 1 0 0 1
Hearing loss, X-linked 4 0 1 0 0 0 1
Hereditary fructosuria 0 1 0 0 0 1
Hereditary spastic paraplegia 11 0 0 1 0 0 1
Holoprosencephaly 5 0 1 0 0 0 1
Hurler syndrome 1 0 0 0 0 1
Hypercalcemia, infantile, 1 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 1 0 0 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 1 0 0 0 1
Immunodeficiency, common variable, 2 1 0 0 0 0 1
Immunoglobulin A deficiency 2 1 0 0 0 0 1
Intellectual disability and seizures 1 0 0 0 0 1
Interstitial lung disease due to ABCA3 deficiency 0 1 0 0 0 1
Iodotyrosyl coupling defect 1 0 0 0 0 1
Leber congenital amaurosis 13 0 1 0 0 0 1
Leukocyte adhesion deficiency 3 0 0 1 0 0 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 0 1 0 0 1
Long QT syndrome 12 0 0 1 0 0 1
Long QT syndrome 5 0 1 0 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 0 1
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2 0 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Metachromatic leukodystrophy 0 0 1 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 1
Microcephaly 15, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 0 1 0 0 0 1
Microcephaly, seizures, and developmental delay 0 0 1 0 0 1
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-I-H/S 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-I-S 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 0 1
Non-ketotic hyperglycinemia 1 0 0 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 0 1
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 1 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 1 0 0 0 0 1
Peroxisome biogenesis disorder 1B 1 0 0 0 0 1
Platelet-type bleeding disorder 17 0 0 1 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 1
Rafiq syndrome 1 0 0 0 0 1
Retinitis pigmentosa 37 1 0 0 0 0 1
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 0 1 0 0 0 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 1 0 0 0 0 1
Salla disease 0 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 0 1
Short QT syndrome type 1; Long QT syndrome 2 1 0 0 0 0 1
Sialic acid storage disease, severe infantile type 0 1 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Sinoatrial node dysfunction and deafness 0 0 1 0 0 1
Spastic paraplegia 52, autosomal recessive 0 1 0 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0 0 1 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Transient bullous dermolysis of the newborn 1 0 0 0 0 1
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0 1 0 0 0 1
Usher syndrome type 2C 0 0 1 0 0 1
Usher syndrome type 2D 0 0 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Wilson disease 0 1 0 0 0 1
X-linked dystonia-parkinsonism 0 0 1 0 0 1

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