ClinVar Miner

Variants from Lifecell International Pvt. Ltd

Location: India  Primary collection method: clinical testing
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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 total
159 179 17 0 1 355

Gene and significance breakdown #

Total genes and gene combinations: 234
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
SCN1A 9 11 7 0 26
LOC102724058, SCN1A 5 7 7 0 19
G6PD 8 2 1 0 11
CYP21A2, LOC106780800 3 2 1 0 6
HBB, LOC106099062, LOC107133510 6 0 0 0 6
PKHD1 3 2 0 0 5
CFTR 3 1 0 0 4
CHD7 1 3 0 0 4
GALT 3 0 0 1 4
GCDH 2 2 0 0 4
GJB2 3 1 0 0 4
MECP2 2 2 0 0 4
ABCD1 1 2 0 0 3
ALDH7A1 1 2 0 0 3
CAPN3 2 1 0 0 3
FOXG1 1 2 0 0 3
NEB 1 2 0 0 3
PTPN11 3 0 0 0 3
ABCB4 0 2 0 0 2
APTX 1 1 0 0 2
CA5A 0 2 0 0 2
CANT1 0 1 1 0 2
CD40LG 0 2 0 0 2
CHD2 1 1 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 2
DEGS1 1 1 0 0 2
DHCR7 1 1 0 0 2
DMD 1 1 0 0 2
DYRK1A 0 2 0 0 2
DYSF 1 1 0 0 2
F8 1 1 0 0 2
FAH 1 1 0 0 2
FBP1 0 2 0 0 2
GFAP 1 1 0 0 2
HGSNAT 1 1 0 0 2
KCNQ2 1 1 0 0 2
KMT2D 0 2 0 0 2
MLC1 1 1 0 0 2
RYR1 1 1 0 0 2
SOX5 1 1 0 0 2
SPG11 1 1 0 0 2
WAS 1 1 0 0 2
ABCA12 1 0 0 0 1
ABHD14A-ACY1, ACY1 1 0 0 0 1
ACAT1 1 0 0 0 1
ACOX1 0 1 0 0 1
ADGRG1 1 0 0 0 1
AHI1 1 0 0 0 1
ALDH5A1 0 1 0 0 1
ALPK3 1 0 0 0 1
AMER1 1 0 0 0 1
ANO5 1 0 0 0 1
ARG1 0 1 0 0 1
ARG1, MED23 0 1 0 0 1
ARSA 0 1 0 0 1
ASL 0 1 0 0 1
ASPA, SPATA22 1 0 0 0 1
ATG7 0 1 0 0 1
ATM, C11orf65 1 0 0 0 1
ATP7B 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1
AVPR2 1 0 0 0 1
BBS1 1 0 0 0 1
BCKDHA 1 0 0 0 1
BCKDHB 0 1 0 0 1
BRCA2 1 0 0 0 1
BTD 1 0 0 0 1
C17orf107, CHRNE 0 1 0 0 1
CACNA1A 1 0 0 0 1
CAPN1 1 0 0 0 1
CAST, LOC101929710, PCSK1 0 1 0 0 1
CCNO 0 1 0 0 1
CDKL5 0 1 0 0 1
CEP85L, PLN 1 0 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHD7, LOC126860403 0 1 0 0 1
CLCN1 1 0 0 0 1
CLCN5 1 0 0 0 1
CLCN7 0 1 0 0 1
CLMP 0 1 0 0 1
CLN6 0 1 0 0 1
COL6A3 0 1 0 0 1
CPLANE1 0 1 0 0 1
CREBBP 1 0 0 0 1
CYP17A1 1 0 0 0 1
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1
DCLRE1C 0 1 0 0 1
DCX 1 0 0 0 1
DDX3X 0 1 0 0 1
DHTKD1 0 1 0 0 1
EFNB1 1 0 0 0 1
EHMT1 0 1 0 0 1
ELANE 0 1 0 0 1
EMC1 0 1 0 0 1
EPB41 0 1 0 0 1
ERCC6 0 1 0 0 1
EVC2 1 0 0 0 1
EXOSC3 1 0 0 0 1
EXT1 0 1 0 0 1
FANCA 1 0 0 0 1
FANCG 0 1 0 0 1
FBN1 1 0 0 0 1
FGF23 1 0 0 0 1
FGFR1, LOC102723716 0 1 0 0 1
FGG 0 1 0 0 1
FLG 1 0 0 0 1
G6PC1 1 0 0 0 1
GALC 1 0 0 0 1
GALNS, LOC130059762, TRAPPC2L 1 0 0 0 1
GBA1, LOC106627981 1 0 0 0 1
GCH1 0 1 0 0 1
GFI1B 0 1 0 0 1
GJC2 1 0 0 0 1
GNE 1 0 0 0 1
GNPTAB 1 0 0 0 1
GPX4 0 1 0 0 1
GSN 0 1 0 0 1
HADH 0 1 0 0 1
HBA1, LOC106804613 0 1 0 0 1
HEXB 1 0 0 0 1
HGD 1 0 0 0 1
HPS4 0 1 0 0 1
HRAS, LRRC56 0 1 0 0 1
IDS, LOC106050102 0 1 0 0 1
IFIH1 0 1 0 0 1
IGHMBP2, LOC126861245 0 1 0 0 1
IL17RC 0 1 0 0 1
IL2RG 1 0 0 0 1
ITGB6 0 1 0 0 1
JAK3 0 1 0 0 1
KCNH2 0 1 0 0 1
KCTD7 0 1 0 0 1
KIF1A, LOC126806583 0 1 0 0 1
KIF5C 1 0 0 0 1
KRT10 0 1 0 0 1
LAMA2 0 1 0 0 1
LAMA5 0 1 0 0 1
LAMB3 0 1 0 0 1
LIG1 0 1 0 0 1
LIPA 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 0 1 0 0 1
LOC126859690, PKHD1 0 1 0 0 1
LOC126861878, TTC5 1 0 0 0 1
LOC130007700, PRICKLE1 1 0 0 0 1
LTBP4 0 1 0 0 1
LYRM7 0 1 0 0 1
MAPRE2 0 1 0 0 1
MCCC1 0 1 0 0 1
MED17 0 1 0 0 1
MICU1 1 0 0 0 1
MMAB 0 1 0 0 1
MMACHC 1 0 0 0 1
MMP20 0 1 0 0 1
MRE11 1 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYBPC3 1 0 0 0 1
MYO15A 0 1 0 0 1
MYT1L 0 1 0 0 1
NDUFB3 1 0 0 0 1
NDUFS4 0 1 0 0 1
NIPBL 0 1 0 0 1
NOD2 1 0 0 0 1
NPHS2 0 1 0 0 1
NRAS 1 0 0 0 1
OCLN 0 1 0 0 1
ODAD1 0 1 0 0 1
OPA1 0 1 0 0 1
PACS2 1 0 0 0 1
PANK2 0 1 0 0 1
PAX2 1 0 0 0 1
PCCB 1 0 0 0 1
PDHX 0 1 0 0 1
PEX26 0 1 0 0 1
PHEX, PTCHD1 0 1 0 0 1
PKD1 1 0 0 0 1
PKD2 0 1 0 0 1
PKP2 1 0 0 0 1
PLA2G6 1 0 0 0 1
PLD1 0 1 0 0 1
PLVAP 0 1 0 0 1
PPP2R5D 0 1 0 0 1
PPT1 0 1 0 0 1
PQBP1 1 0 0 0 1
PRSS12 0 1 0 0 1
PTCHD1 0 1 0 0 1
PURA 1 0 0 0 1
PUS7 0 1 0 0 1
PYGM 1 0 0 0 1
QDPR 1 0 0 0 1
RAD51C 0 1 0 0 1
RMND1 1 0 0 0 1
RNASEH2C 1 0 0 0 1
SACS 0 1 0 0 1
SASS6 0 1 0 0 1
SBDS 1 0 0 0 1
SCN2A 0 1 0 0 1
SETD5 1 0 0 0 1
SETX 1 0 0 0 1
SGSH 0 1 0 0 1
SLC22A5 1 0 0 0 1
SLC26A3 1 0 0 0 1
SLC26A4 0 1 0 0 1
SLC2A2 1 0 0 0 1
SLC3A1 0 1 0 0 1
SLC6A5 0 1 0 0 1
SLURP1 0 1 0 0 1
SON 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 1 0 0 1
SPG7 0 1 0 0 1
SPTAN1 0 1 0 0 1
SRD5A3 1 0 0 0 1
SURF1 1 0 0 0 1
SYNE2 0 1 0 0 1
TGM1 0 1 0 0 1
THAP1 0 1 0 0 1
TINF2 1 0 0 0 1
TMEM231 1 0 0 0 1
TNFRSF11A 0 1 0 0 1
TNXB 1 0 0 0 1
TP63 1 0 0 0 1
TPM1 0 1 0 0 1
TRMT1 0 1 0 0 1
TSFM 0 1 0 0 1
TTN 1 0 0 0 1
TUBA1A 0 1 0 0 1
TUBB4A 1 0 0 0 1
TUBGCP6 0 1 0 0 1
UBAP1 1 0 0 0 1
UBR1 0 1 0 0 1
USH2A 1 0 0 0 1
WDR45 1 0 0 0 1
WDR72 0 1 0 0 1
ZC4H2 1 0 0 0 1
ZMPSTE24 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 238
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Severe myoclonic epilepsy in infancy 8 10 8 0 26
Generalized epilepsy with febrile seizures plus, type 2 5 2 5 0 12
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8 2 1 0 11
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 5 3 1 0 9
Polycystic kidney disease 4 3 3 0 0 6
Beta-thalassemia HBB/LCRB 5 0 0 0 5
CHARGE association 1 4 0 0 5
Developmental and epileptic encephalopathy 6B 0 4 1 0 5
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 0 1 4
Glutaric aciduria, type 1 2 2 0 0 4
Adrenoleukodystrophy 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A 2 1 0 0 3
Cystic fibrosis 2 1 0 0 3
Noonan syndrome 1 3 0 0 0 3
Pyridoxine-dependent epilepsy 1 2 0 0 3
Rett syndrome 2 1 0 0 3
Rett syndrome, congenital variant 1 2 0 0 3
Alexander disease 1 1 0 0 2
Arginase deficiency 0 2 0 0 2
Arthrogryposis multiplex congenita 6 1 1 0 0 2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 1 0 0 2
DYRK1A-related intellectual disability syndrome 0 2 0 0 2
Desbuquois dysplasia 1 0 1 1 0 2
Developmental and epileptic encephalopathy 94 1 1 0 0 2
Developmental and epileptic encephalopathy, 7 1 1 0 0 2
Duchenne muscular dystrophy 1 1 0 0 2
Fructose-biphosphatase deficiency 0 2 0 0 2
Hereditary factor VIII deficiency disease 1 1 0 0 2
Hereditary spastic paraplegia 11 1 1 0 0 2
Hyper-IgM syndrome type 1 0 2 0 0 2
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 0 2 0 0 2
Kabuki syndrome 1 0 2 0 0 2
Lamb-Shaffer syndrome 1 1 0 0 2
Leukodystrophy, hypomyelinating, 18 1 1 0 0 2
Maple syrup urine disease 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-C 1 1 0 0 2
Progressive familial intrahepatic cholestasis type 3 0 2 0 0 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 1 0 0 2
Smith-Lemli-Opitz syndrome 1 1 0 0 2
Tyrosinemia type I 1 1 0 0 2
X-linked severe congenital neutropenia 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 1 0 0 1
Acroerythrokeratoderma 0 1 0 0 1
Acyl-CoA oxidase deficiency 0 1 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 1
Aicardi-Goutieres syndrome 3 1 0 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 0 1
Alkaptonuria 1 0 0 0 1
Amelogenesis imperfecta hypomaturation type 2A2 0 1 0 0 1
Amelogenesis imperfecta hypomaturation type 2A3 0 1 0 0 1
Amelogenesis imperfecta type 1H 0 1 0 0 1
Aminoacylase 1 deficiency 1 0 0 0 1
Amyotrophic lateral sclerosis type 4 1 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 1 0 0 1
Argininosuccinate lyase deficiency 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 1
Ataxia-telangiectasia-like disorder 1 1 0 0 0 1
Autism, susceptibility to, X-linked 3 0 1 0 0 1
Autism, susceptibility to, X-linked 4 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 4 1 0 0 0 1
Autosomal dominant hypophosphatemic rickets 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 1 0 0 0 1
Autosomal recessive Parkinson disease 14 1 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 0 1
Autosomal recessive osteopetrosis 4 0 1 0 0 1
Autosomal recessive osteopetrosis 7 0 1 0 0 1
Autosomal recessive spastic paraplegia type 76 1 0 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 1
Bilateral frontoparietal polymicrogyria 1 0 0 0 1
Biotinidase deficiency 1 0 0 0 1
Blau syndrome 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 0 0 1
Bullous ichthyosiform erythroderma 0 1 0 0 1
Candidiasis, familial, 9 0 1 0 0 1
Cardiac valvular defect, developmental 0 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 1 0 0 0 1
Central core myopathy 0 1 0 0 1
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 1 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 1
Cobalamin C disease 1 0 0 0 1
Cockayne syndrome type 2 0 1 0 0 1
Combined oxidative phosphorylation defect type 11 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 2 1 0 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 1 0 0 0 1
Congenital myasthenic syndrome 4A 0 1 0 0 1
Congenital myotonia, autosomal recessive form 1 0 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 1
Congenital short bowel syndrome, autosomal recessive 0 1 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
Costello syndrome 0 1 0 0 1
Craniofrontonasal syndrome 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 1 0 0 1
Cystinuria 0 1 0 0 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 0 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 1
Deficiency of steroid 17-alpha-monooxygenase 1 0 0 0 1
Dent disease type 1 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 1
Diarrhea 10, protein-losing enteropathy type 0 1 0 0 1
Dihydropteridine reductase deficiency 1 0 0 0 1
Dilated cardiomyopathy 1G 1 0 0 0 1
Dilated cardiomyopathy 1P 1 0 0 0 1
Dyskeratosis congenita, autosomal dominant 3 1 0 0 0 1
Dystonia 5 0 1 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 0 0 1
Elliptocytosis 1 0 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 1 0 0 1
Epilepsy, progressive myoclonic, 1B 1 0 0 0 1
Episodic ataxia type 2 1 0 0 0 1
Erythrocytosis, familial, 7 0 1 0 0 1
Exostoses, multiple, type 1 0 1 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 1
Familial dysfibrinogenemia 0 1 0 0 1
Fanconi anemia complementation group A 1 0 0 0 1
Fanconi anemia complementation group G 0 1 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 1 0 0 1
GNE myopathy 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 0 1
Gaucher disease perinatal lethal 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 1
Glycogen storage disease, type V 1 0 0 0 1
Hb SS disease 1 0 0 0 1
Hereditary pancreatitis 1 0 0 0 1
Hereditary spastic paraplegia 44 1 0 0 0 1
Hereditary spastic paraplegia 7 0 1 0 0 1
Hermansky-Pudlak syndrome 4 0 1 0 0 1
Hogue-Janssens syndrome 1 0 1 0 0 1
Hyperekplexia 3 0 1 0 0 1
Hypertrophic cardiomyopathy 3 0 1 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 0 1
Hypomyelinating leukodystrophy 6 1 0 0 0 1
Ichthyosis vulgaris 1 0 0 0 1
Immunodeficiency 96 0 1 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 68 0 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 1
Intellectual disability, autosomal recessive 1 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 1
Johanson-Blizzard syndrome 0 1 0 0 1
Joubert syndrome 17 0 1 0 0 1
Joubert syndrome 20 1 0 0 0 1
Joubert syndrome 3 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 1 0 0 1
Kleefstra syndrome 1 0 1 0 0 1
Lethal tight skin contracture syndrome 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 1
Long QT syndrome 2 0 1 0 0 1
Lysosomal acid lipase deficiency 0 1 0 0 1
Marfan syndrome 1 0 0 0 1
Meretoja syndrome 0 1 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 1
Metachromatic leukodystrophy 0 1 0 0 1
Methylmalonic aciduria, cblB type 0 1 0 0 1
Microcephaly 14, primary, autosomal recessive 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 1 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 25 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 8 0 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 0 0 1
Nemaline myopathy 2 0 1 0 0 1
Nephrotic syndrome, IIa 26 0 1 0 0 1
Nephrotic syndrome, type 2 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 0 1
Obesity due to prohormone convertase I deficiency 0 1 0 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Pendred syndrome 0 1 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 0 1 0 0 1
Pigmentary pallidal degeneration 0 1 0 0 1
Platelet-type bleeding disorder 17 0 1 0 0 1
Polycystic kidney disease 2 0 1 0 0 1
Polycystic kidney disease, adult type 1 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 1
Primary ciliary dyskinesia 20 0 1 0 0 1
Primary ciliary dyskinesia 29 0 1 0 0 1
Progressive myoclonic epilepsy type 3 0 1 0 0 1
Propionic acidemia 1 0 0 0 1
Proximal myopathy with extrapyramidal signs 1 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 1
Pseudo-TORCH syndrome 1 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 1
Renal carnitine transport defect 1 0 0 0 1
Renal coloboma syndrome 1 0 0 0 1
Renpenning syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
SRD5A3-congenital disorder of glycosylation 1 0 0 0 1
Sandhoff disease 1 0 0 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Skin creases, congenital symmetric circumferential, 2 0 1 0 0 1
Spastic paraplegia 80, autosomal dominant 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 31 0 1 0 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 0 1 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 1 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 1 0 0 1
Teebi hypertelorism syndrome 1 0 1 0 0 1
Torsion dystonia 6 0 1 0 0 1
Ullrich congenital muscular dystrophy 1A 0 1 0 0 1
Usher syndrome type 2A 1 0 0 0 1
Wieacker-Wolff syndrome, female-restricted 1 0 0 0 1
Wilson disease 0 1 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1
ZTTK syndrome 0 1 0 0 1

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