Kasturba Medical College, Manipal (Manipal Academy of Higher Education), KMC-MU

General information

Kasturba Medical College, Manipal, KMC-MU
Manipal Academy of Higher Education
Madhav Nagar
Manipal
Karnataka
India - 576104
http://www.manipal.edu
Organization ID: 505991

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 151

Gene

GeneSubmissionsLast Updated
ABCC82May 6, 2021
ADCY51Aug 17, 2021
ADGRG11Oct 20, 2021
ADGRV11Jun 4, 2018
AIMP21Jun 20, 2017
AP3B21May 6, 2021
AP4S11Jan 31, 2021
ARID1B1Jan 31, 2021
ARSA5Oct 28, 2021
B9D21Aug 7, 2019
BNIP11Mar 12, 2021
BTD1Aug 12, 2021
CAPN32Aug 9, 2021
CARMIL21Jul 12, 2021
CC2D2A2Aug 29, 2019
CD79A1Mar 27, 2021
CEP2903Aug 28, 2019
CLN62Aug 16, 2021
COL27A12Oct 20, 2019
COMP5Mar 10, 2020
CPEB1-AS11May 6, 2021
CREBBP1Oct 20, 2021
CYFIP21May 6, 2021
DARS22Oct 18, 2021
DMD1Aug 9, 2021
DYNC1H11May 6, 2021
DYRK1A1May 6, 2021
ECEL11Mar 27, 2021
EDN31Jun 1, 2018
EDNRB4Apr 7, 2021
EDNRB-AS12Apr 7, 2021
EIF2B41Feb 11, 2021
EVC21Jan 31, 2021
FGF121May 6, 2021
FGF131Jul 24, 2021
FOXG11Aug 17, 2021
FUCA11May 6, 2021
GALC1Feb 11, 2021
GALNT21May 6, 2021
GCDH2Jan 31, 2021
GFAP1Oct 4, 2021
GJB21Jun 4, 2018
HEXB1Jan 31, 2021
HHAT1Mar 27, 2021
HIVEP21Oct 1, 2021
IL12RB11Nov 13, 2021
ISCA12Oct 4, 2021
KCNJ101May 6, 2021
KCNT11Aug 16, 2021
KCTD71May 6, 2021
KIF26A1Jun 23, 2017
KLHL71Jul 6, 2017
KMT2D1Aug 10, 2021
L1CAM1Feb 11, 2021
L2HGDH1Oct 7, 2021
LAMA24Oct 4, 2021
LOC1027240581May 6, 2021
MGME11Jun 20, 2017
MITF4May 23, 2018
MLC11May 5, 2021
MPDU11Jan 31, 2021
MT-ND41Jul 8, 2021
MTHFR2May 5, 2021
MYOD11May 20, 2019
NDUFV12Oct 7, 2021
OBSL11Jun 1, 2020
OCLN1May 6, 2021
OPA31Mar 27, 2021
PAX35Apr 7, 2021
PAX61Mar 27, 2021
PCDH121May 5, 2021
PDHA11Oct 20, 2021
PEX31May 6, 2021
PIBF11Jul 6, 2017
PNPT11Jan 31, 2021
POLR2F3May 5, 2021
POLR3A2Jan 31, 2021
PTH1R2May 17, 2019
PTH2R1Mar 27, 2017
PURA1Aug 6, 2020
QRICH11Aug 10, 2021
RARS21Oct 20, 2021
RNASEH2C1Jan 31, 2021
RTTN1Jul 9, 2021
SACS1Aug 2, 2021
SCN1A1May 6, 2021
SERPINF11Apr 15, 2021
SETBP11May 5, 2021
SHMT21May 6, 2021
SMARCA21Jun 30, 2021
SMARCD11Sep 11, 2021
SNX141Nov 14, 2016
SOX103May 5, 2021
STRA61Apr 15, 2021
STXBP12Jul 9, 2021
TBCK2Jul 31, 2021
TCF121Aug 10, 2021
TF1Jun 23, 2021
TJP21Aug 17, 2021
TMEM671Aug 29, 2019
TPK11May 5, 2021
TPP12Jan 31, 2021
TRAPPC121May 7, 2021
TRAPPC42Jun 16, 2021
TRIP111May 16, 2021
TUBB4A1Aug 10, 2021
TXNDC151Aug 7, 2019
TYR1Jun 4, 2018
UGDH1Jan 31, 2021
VARS12Feb 11, 2021
WAS1Nov 15, 2021

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Mar 27, 2021
Achondrogenesis, type IA1May 16, 2021
Agammaglobulinemia 3, autosomal recessive1Mar 27, 2021
Aicardi Goutieres syndrome 31Jan 31, 2021
Alexander Disease1Oct 4, 2021
Arthrogryposis multiplex congenita1May 20, 2019
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation1Aug 2, 2021
Atransferrinemia1Jun 23, 2021
Biotinidase deficiency1Aug 12, 2021
Ceroid lipofuscinosis neuronal 22Jan 31, 2021
Chondrodysplasia-pseudohermaphroditism syndrome1Mar 27, 2021
Coffin-Siris syndrome 11Jan 31, 2021
Coffin-Siris syndrome 111Sep 11, 2021
Coloboma, ocular, autosomal dominant1Mar 27, 2021
Combined oxidative phosphorylation deficiency 131Jan 31, 2021
Congenital disorder of glycosylation, type iit1May 6, 2021
Congenital sensorineural hearing impairment1May 23, 2018
Craniosynostosis 31Aug 10, 2021
Curry-Hall syndrome1Jan 31, 2021
Deafness, autosomal recessive 1A1Jun 4, 2018
Developmental and epileptic encephalopathy, 651May 6, 2021
Developmental and epileptic encephalopathy, 841Jan 31, 2021
Developmental and epileptic encephalopathy, 901Jul 24, 2021
Diencephalic-mesencephalic junction dysplasia syndrome 11May 5, 2021
Distal arthrogryposis type 5D1Mar 27, 2021
Duchenne muscular dystrophy1Aug 9, 2021
Dyskinesia, familial, with facial myokymia1Aug 17, 2021
EAST syndrome1May 6, 2021
Early infantile epileptic encephalopathy 141Aug 16, 2021
Early infantile epileptic encephalopathy 42Jul 9, 2021
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1May 7, 2021
Eiken syndrome2May 17, 2019
Epilepsy, progressive myoclonic 31May 6, 2021
Epileptic encephalopathy, early infantile, 471May 6, 2021
Epileptic encephalopathy, early infantile, 481May 6, 2021
Fucosidosis1May 6, 2021
Galactosylceramide beta-galactosidase deficiency1Feb 11, 2021
Generalized epilepsy with febrile seizures plus, type 21May 6, 2021
Glutaric aciduria, type 12Jan 31, 2021
Hereditary spastic paraplegia1Jun 23, 2017
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2May 5, 2021
Hyperinsulinemic hypoglycemia, familial, 12May 6, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jul 31, 2021
Immunodeficiency 301Nov 13, 2021
Joubert syndrome1Jul 6, 2017
Kabuki syndrome 11Aug 10, 2021
L-2-hydroxyglutaric aciduria1Oct 7, 2021
Leber optic atrophy1Jul 8, 2021
Leukodystrophy, hypomyelinating, 61Aug 10, 2021
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation2Oct 18, 2021
Leukoencephalopathy with vanishing white matter1Feb 11, 2021
Limb-girdle muscular dystrophy, type 2A2Aug 9, 2021
MASA syndrome1Feb 11, 2021
MPDU1-CDG1Jan 31, 2021
Matthew-Wood syndrome1Apr 15, 2021
Meckel syndrome type 62Aug 29, 2019
Meckel syndrome, type 101Aug 7, 2019
Meckel syndrome, type 31Aug 29, 2019
Meckel syndrome, type 43Aug 28, 2019
Meckel-Gruber syndrome1Aug 7, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 11May 5, 2021
Mental retardation, autosomal dominant 131May 6, 2021
Mental retardation, autosomal dominant 291May 5, 2021
Mental retardation, autosomal dominant 311Aug 6, 2020
Mental retardation, autosomal dominant 431Oct 1, 2021
Mental retardation, autosomal dominant 71May 6, 2021
Merosin deficient congenital muscular dystrophy4Oct 4, 2021
Metachromatic leukodystrophy5Oct 28, 2021
Microcephaly, short stature, and polymicrogyria with or without seizures1Jul 9, 2021
Mitochondrial DNA depletion syndrome 111Jun 20, 2017
Mitochondrial complex 1 deficiency, nuclear type 42Oct 7, 2021
Multiple mitochondrial dysfunctions syndrome1Jan 31, 2017
Multiple mitochondrial dysfunctions syndrome 51Oct 4, 2021
Myopathy, centronuclear, 11May 20, 2019
Neonatal pseudo-hydrocephalic progeroid syndrome2Jan 31, 2021
Neurodevelopmental abnormality1Jun 20, 2017
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities1May 6, 2021
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy2Jun 16, 2021
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Feb 11, 2021
Neuronal ceroid lipofuscinosis 62Aug 16, 2021
Nicolaides-Baraitser syndrome1Jun 30, 2021
Oculocutaneous albinism1Jun 4, 2018
Osteogenesis imperfecta, type VI1Apr 15, 2021
PERCHING syndrome1Jul 6, 2017
Partial albinism1May 18, 2021
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1May 5, 2021
Peroxisome biogenesis disorder 10A1May 6, 2021
Polymicrogyria, bilateral frontoparietal1Oct 20, 2021
Pontocerebellar hypoplasia type 61Oct 20, 2021
Progressive familial intrahepatic cholestasis 41Aug 17, 2021
Pseudo-TORCH syndrome 11May 6, 2021
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome5Mar 10, 2020
Pyruvate dehydrogenase E1-alpha deficiency1Oct 20, 2021
Rett syndrome, congenital variant1Aug 17, 2021
Rubinstein-Taybi syndrome1Oct 20, 2021
Sandhoff disease1Jan 31, 2021
Severe combined immunodeficiency due to CARMIL2 deficiency1Jul 12, 2021
Spastic paraplegia 52, autosomal recessive1Jan 31, 2021
Spinocerebellar ataxia, autosomal recessive 201Nov 14, 2016
Spondyloepiphyseal dysplasia congenita1Mar 12, 2021
Steel syndrome2Oct 20, 2019
Syndromic intellectual disability1Mar 27, 2017
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1May 5, 2021
Three M syndrome 21Jun 1, 2020
Tietz syndrome1May 23, 2018
Usher syndrome, type 2C1Jun 4, 2018
Ververi-Brady syndrome1Aug 10, 2021
Waardenburg syndrome type 14Apr 7, 2021
Waardenburg syndrome type 2A3May 23, 2018
Waardenburg syndrome type 2E2May 24, 2018
Waardenburg syndrome type 31Apr 7, 2021
Waardenburg syndrome type 4A4Apr 7, 2021
Waardenburg syndrome type 4B1Jun 1, 2018
Waardenburg syndrome type 4C1May 24, 2018
Wiskott-Aldrich syndrome1Nov 15, 2021
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