ClinVar Miner

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

Location: United States — Primary collection method: research
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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
97 70 137 1 0 1 306

Gene and significance breakdown #

Total genes and gene combinations: 198
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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
TTN 0 1 3 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
G6PD 3 0 0 0 0 3
OTOF 0 0 3 0 0 3
PCDH15 1 0 2 0 0 3
POLG 2 1 0 0 0 3
STRC 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
CHRNA4 0 0 2 0 0 2
CYP17A1 2 0 0 0 0 2
DNAH5 1 1 0 0 0 2
FLG 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
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 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
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, NSUN6 0 0 1 0 0 1
CAV3 0 0 1 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
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
GABRA1 0 1 0 0 0 1
GALT 1 0 0 0 0 1
GATAD1, PEX1 1 0 0 0 0 1
GBA, 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
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
POU4F3 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
TINF2 0 1 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: 215
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign not provided total
Deafness, autosomal recessive 3 4 1 5 0 1 11
Deafness, autosomal recessive 18b 0 1 7 0 0 8
Deafness, autosomal recessive 77 0 1 6 0 0 7
Phenylketonuria 3 2 0 0 0 5
Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 4 0 0 4
Deafness, autosomal recessive 1A 4 0 0 0 0 4
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 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
Cone-rod dystrophy 3 3 0 0 0 0 3
Cystic fibrosis 3 0 0 0 0 3
Deafness, autosomal recessive 16 0 1 2 0 0 3
Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 1 0 2 0 0 3
Deafness, autosomal recessive 9 0 0 3 0 0 3
Glycogen storage disease type III 1 2 0 0 0 3
Platelet glycoprotein IV deficiency; Coronary heart disease 7; Susceptibility to malaria 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
22q13.3 deletion syndrome 0 0 2 0 0 2
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 cardiomyopathy, type 8 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
Ciliary dyskinesia, primary, 3 1 1 0 0 0 2
Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia 0 0 2 0 0 2
Deafness, autosomal recessive 12 0 0 2 0 0 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 2 0 0 0 0 2
Deafness, autosomal recessive 31; Usher syndrome, type 2D 0 0 2 0 0 2
Deafness, autosomal recessive 79 0 0 2 0 0 2
Deafness, autosomal recessive 7; Deafness, autosomal dominant 36 0 0 2 0 0 2
Deficiency of steroid 17-alpha-monooxygenase 2 0 0 0 0 2
Dilated cardiomyopathy 1CC; Familial 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; Familial hypertrophic cardiomyopathy 15 0 0 2 0 0 2
Enlarged vestibular aqueduct 2 0 0 0 0 2
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 0 2 0 0 2
Epileptic encephalopathy, early infantile, 26 0 1 1 0 0 2
Familial hypercholesterolemia 1 1 0 0 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 0 0 2
Familial platelet disorder with associated myeloid malignancy 0 1 1 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 2
Ichthyosis vulgaris 1 1 0 0 0 2
Long QT syndrome 1 1 1 0 0 0 2
MYH-associated polyposis; Neoplasm of stomach 1 1 0 0 0 2
Methylmalonic acidemia with homocystinuria 1 0 1 0 0 2
Mitochondrial complex I deficiency 0 1 1 0 0 2
Niemann-Pick disease type C1 2 0 0 0 0 2
Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 1 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 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
Progressive familial heart block type 1B 0 0 2 0 0 2
Sucrase-isomaltase deficiency 2 0 0 0 0 2
Susceptibility to malaria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 0 2
Von Willebrand disease, recessive form; von Willebrand disease type 1; von Willebrand disease type 2 0 0 2 0 0 2
2-methyl-3-hydroxybutyric aciduria 0 0 1 0 0 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 1 0 0 1
Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 0 1 0 0 0 1
Age-related macular degeneration 3; Autosomal recessive cutis laxa type IA; Cutis laxa, autosomal dominant 2 0 0 1 0 0 1
Alstrom syndrome 0 0 1 0 0 1
Amelogenesis imperfecta, type IC 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 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
Autistic disorder of childhood onset; Microtia 0 0 1 0 0 1
Autosomal dominant hypohidrotic ectodermal dysplasia 1 0 0 0 0 1
Autosomal recessive polycystic kidney disease 0 1 0 0 0 1
Bainbridge-Ropers syndrome 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 2; Progressive familial intrahepatic cholestasis 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
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Susceptibility to malaria; beta Thalassemia 1 0 0 0 0 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 0 1 0 0 0 1
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive 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 3; Deafness, autosomal dominant 23 0 1 0 0 0 1
Branchiootic syndrome; Melnick-Fraser syndrome; Otofaciocervical syndrome 1 0 1 0 0 0 1
Breast-ovarian cancer, familial 1 1 0 0 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Carbohydrate-deficient glycoprotein syndrome type I 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 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 caused by citrin deficiency 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 15 1 0 0 0 0 1
Combined oxidative phosphorylation deficiency 8 0 0 1 0 0 1
Common variable immunodeficiency 2 1 0 0 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 (LAMM) 1 0 0 0 0 1
Deafness, X-linked 4 0 1 0 0 0 1
Deafness, autosomal dominant 11 0 0 1 0 0 1
Deafness, autosomal dominant 12 0 0 1 0 0 1
Deafness, autosomal dominant 12; Deafness, autosomal recessive 21 0 0 1 0 0 1
Deafness, autosomal dominant 13 0 0 1 0 0 1
Deafness, autosomal dominant 15 0 0 1 0 0 1
Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 0 0 1 0 0 1
Deafness, autosomal dominant 22 0 0 1 0 0 1
Deafness, autosomal dominant 4 0 0 1 0 0 1
Deafness, autosomal dominant 4; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 0 1 0 0 1
Deafness, autosomal dominant 9 0 1 0 0 0 1
Deafness, autosomal dominant nonsyndromic sensorineural 17 1 0 0 0 0 1
Deafness, autosomal recessive 18 0 1 0 0 0 1
Deafness, autosomal recessive 22 0 0 1 0 0 1
Deafness, autosomal recessive 30 0 0 1 0 0 1
Deafness, autosomal recessive 31 0 0 1 0 0 1
Deafness, autosomal recessive 36, with or without vestibular involvement 0 0 1 0 0 1
Deafness, autosomal recessive 39 0 0 1 0 0 1
Deafness, autosomal recessive 49 0 0 1 0 0 1
Deafness, autosomal recessive 8 0 0 1 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; Familial 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; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 1 0 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0 1 0 0 0 1
Dysostosis multiplex 1 0 0 0 0 1
Dystonia 3, torsion, X-linked 0 0 1 0 0 1
Early infantile epileptic encephalopathy 10 0 0 1 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 serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9; Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease; Distal myopathy, Tateyama type 0 0 1 0 0 1
Encephalopathy, acute, infection-induced, 3, suceptibility to 0 0 1 0 0 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; Epidermolysis bullosa simplex with nail dystrophy 0 1 0 0 0 1
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19 0 1 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 1 0 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
Finnish congenital nephrotic syndrome 1 0 0 0 0 1
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 1 0 0 0 1
Gaucher's disease, type 1 1 0 0 0 0 1
Glaucoma 3, primary congenital, A; 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
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 1 0 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 4 0 1 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 5 0 0 1 0 0 1
Hereditary fructosuria 0 1 0 0 0 1
Holoprosencephaly 5 0 1 0 0 0 1
Hypomyelinating leukodystrophy 7 0 0 1 0 0 1
Idiopathic hypercalcemia of infancy 1 0 0 0 0 1
Immunoglobulin A deficiency 2 1 0 0 0 0 1
Inclusion body myopathy 2 1 0 0 0 0 1
Intellectual disability and seizures 1 0 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, type III 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
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 1
Mental retardation, autosomal recessive 15 1 0 0 0 0 1
Metachromatic leukodystrophy 0 0 1 0 0 1
Methylmalonic aciduria cblA type 1 0 0 0 0 1
Molybdenum cofactor deficiency, complementation group C 0 0 1 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; Dysostosis multiplex; 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
Multiple epiphyseal dysplasia 2; Intervertebral disc disorder; Stickler syndrome, type 5 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
Nonaka myopathy; Sialuria 1 0 0 0 0 1
Paget disease of bone, familial; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 1 0 0 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 1 0 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; 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
Primary aldosteronism, seizures, and neurologic abnormalities 0 1 0 0 0 1
Primary autosomal recessive microcephaly 15 0 0 1 0 0 1
Primary autosomal recessive microcephaly 6; Seckel syndrome 4 0 1 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
Short QT syndrome 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 11, autosomal recessive 0 0 1 0 0 1
Spastic paraplegia 52, autosomal recessive 0 1 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 0 0 1 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 3 0 1 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Three M syndrome 2 1 0 0 0 0 1
Transient bullous dermolysis of the newborn 1 0 0 0 0 1
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 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
WFS1-Related Disorders 0 0 1 0 0 1
Wilson disease 0 1 0 0 0 1

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