U.S. flag

An official website of the United States government

Department of Medical Genetics (Sanjay Gandhi Post Graduate Institute of Medical Sciences), SGPGIMS

General information

Department of Medical Genetics, SGPGIMS
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Raebareli road
Lucknow
Uttar Pradesh
India - 226014
http://sgpgi.ac.in/
Organization ID: 505943

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 223

Gene

GeneSubmissionsLast Updated
AIMP11Apr 16, 2022
AIMP21Oct 27, 2020
ANKLE21Nov 2, 2021
ARX1Feb 7, 2025
ASPM1Apr 5, 2021
ATP6V0A21Feb 9, 2024
ATRIP2Nov 2, 2021
ATRIP-TREX12Nov 2, 2021
BBIP11May 3, 2019
BBS11Aug 7, 2019
BBS101May 11, 2019
BBS121May 7, 2019
BBS41Aug 7, 2019
C2orf691Apr 7, 2023
CASK1Apr 16, 2022
CDK51Jul 9, 2025
CENPF1Apr 5, 2021
CFAP4182Aug 8, 2019
CFAP418-AS11Aug 8, 2019
CHST34Feb 7, 2025
CIT3Apr 5, 2021
CLASP12Dec 29, 2020
CLASP1-AS12Dec 29, 2020
CLN61Apr 17, 2022
COASY1Oct 26, 2020
COL1A11Jan 16, 2025
COL2A11Apr 9, 2025
COL4A11Oct 28, 2020
COL6A21Feb 9, 2024
COL6A31Feb 9, 2024
COL7A110Apr 27, 2021
CREBBP1Jul 10, 2025
CTSA1Jan 9, 2025
CTSK10Oct 23, 2020
CUL71Sep 30, 2024
DCTN21Dec 30, 2021
DEAF11Apr 16, 2022
DES1Feb 9, 2024
DOK72Dec 12, 2022
DVL31May 7, 2019
ECEL12May 11, 2019
EPG51Apr 20, 2022
ERCC62Dec 30, 2020
ERMARD1Dec 30, 2021
FAR11Mar 22, 2023
FBLN51Feb 9, 2024
FBN11Dec 12, 2024
FBXO111Oct 18, 2021
FLNB1Feb 9, 2024
GALK11Mar 2, 2021
GAPDH1Dec 30, 2020
GLI31May 12, 2019
GLRA11Jan 2, 2018
GNPTAB1Jul 11, 2025
HMBS3Oct 18, 2023
IDS54Mar 12, 2021
ITGB41Mar 2, 2021
KIF5B1Jul 11, 2025
L1CAM1Apr 9, 2025
LGI41Oct 12, 2018
LMNA2Dec 12, 2024
LOC1053715201Apr 16, 2022
LOC10605010221Feb 24, 2021
LOC1228890111Feb 9, 2024
LOC1300007841Aug 8, 2019
LOC1300687811Feb 19, 2021
MECP21Dec 30, 2020
MFN21Feb 9, 2024
MINPP11Oct 20, 2021
MSH61Oct 18, 2021
MTHFR3Oct 15, 2021
NALCN1Sep 25, 2021
NCAPD21Dec 30, 2020
NFIX2May 7, 2019
NIPBL1Apr 16, 2022
NPC12Apr 17, 2022
NPR25Jan 10, 2017
OBSL13Jul 15, 2025
ORC11Oct 27, 2020
P3H13Jul 10, 2025
PC1Jan 2, 2018
PCNT3Oct 26, 2020
PEX71Nov 22, 2020
PGBD31Dec 30, 2020
PHKG21Dec 15, 2024
PLA2G61Feb 9, 2024
PLOD11Feb 9, 2024
PLXNA11Jul 4, 2025
PNKP1Oct 20, 2021
PNPLA81Dec 29, 2021
POLR3B1Apr 16, 2022
POMGNT11Apr 16, 2022
PQBP11Dec 30, 2020
PSAP1Apr 16, 2022
PYCR11Feb 9, 2024
RAB3GAP11Sep 26, 2017
RNASEH2A2Apr 17, 2023
RNU4ATAC2Dec 29, 2020
ROR22May 7, 2019
SLC13A51Apr 5, 2021
SLC2A21Oct 30, 2017
SNAP291Dec 30, 2020
SPAG81Jan 10, 2017
TBX51May 1, 2019
TCF41Oct 26, 2020
TENM32Jan 5, 2018
THSD11Apr 12, 2023
TMEM1071Apr 16, 2022
TMEM671Jan 13, 2025
TMTC31Feb 9, 2024
TPM31Feb 9, 2024
TRAPPC121Jul 10, 2025
TRAPPC12-AS11Jul 10, 2025
TRAPPC91Oct 24, 2020
TREX11Nov 2, 2021
TRIT12Oct 20, 2021
TRPS11May 11, 2019
TUBA1A1Dec 28, 2020
TYMP2Sep 29, 2017
UBE3B1Apr 16, 2022
UMOD1Nov 9, 2017
VARS12Dec 31, 2020
VIPAS391May 7, 2019
VPS33B1May 7, 2019
WDR621Oct 28, 2020
ZC4H21Apr 16, 2022
ZNF6991Feb 7, 2025
ZRANB31Sep 26, 2017

Condition

NameSubmissionsLast Updated
3M syndrome 11Sep 30, 2024
3M syndrome 23Jul 15, 2025
Abnormal radial ray morphology1May 1, 2019
Achondrogenesis type II2Jul 12, 2025
Acromesomelic dysplasia 1, Maroteaux type5Jan 10, 2017
Acute intermittent porphyria3Oct 18, 2023
Aicardi-Goutieres syndrome 11Nov 2, 2021
Aicardi-Goutieres syndrome 42Apr 17, 2023
Anteverted nares1May 7, 2019
Arthrogryposis multiplex congenita 2, neurogenic type1Oct 12, 2018
Arthrogryposis, renal dysfunction, and cholestasis 11May 7, 2019
Arthrogryposis, renal dysfunction, and cholestasis 21May 7, 2019
Atrial septal defect1May 1, 2019
Autosomal recessive Robinow syndrome2May 7, 2019
Autosomal recessive cutis laxa type 2B1Feb 9, 2024
Babinski sign1May 12, 2019
Bardet-Biedl syndrome 11Aug 7, 2019
Bardet-Biedl syndrome 101May 11, 2019
Bardet-Biedl syndrome 121May 7, 2019
Bardet-Biedl syndrome 41Aug 7, 2019
Bardet-biedl syndrome 212Aug 8, 2019
Basilar invagination1May 12, 2019
Blue nevus1May 1, 2019
Blue sclerae1May 7, 2019
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY1Mar 22, 2023
CEDNIK syndrome1Dec 30, 2020
Ceroid lipofuscinosis, neuronal, 6A1Apr 17, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Feb 9, 2024
Clinodactyly of the 5th finger1May 7, 2019
Clubbing of fingers1May 1, 2019
Cockayne syndrome type 22Dec 30, 2020
Combined deficiency of sialidase AND beta galactosidase1Jan 9, 2025
Combined oxidative phosphorylation deficiency 352Oct 20, 2021
Combined oxidative phosphorylation deficiency 531Apr 7, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Sep 25, 2021
Congenital laryngomalacia1May 7, 2019
Congenital muscular dystrophy due to LMNA mutation1Feb 9, 2024
Congenital myopathy 4A, autosomal dominant1Feb 9, 2024
Cornelia de Lange syndrome 11Apr 16, 2022
Cutis laxa with osteodystrophy1Feb 9, 2024
Cutis laxa, autosomal recessive, type 1A1Feb 9, 2024
DEGCAGS syndrome1Feb 7, 2025
Dental crowding1May 7, 2019
Desmin-related myofibrillar myopathy1Feb 9, 2024
Developmental and epileptic encephalopathy, 251Apr 5, 2021
Distal arthrogryposis type 5D2May 11, 2019
Distal ulnar hypoplasia1May 7, 2019
Downslanted palpebral fissures1May 3, 2019
Dworschak-Punetha neurodevelopmental syndrome1Jul 4, 2025
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Jul 10, 2025
Ehlers-Danlos syndrome, kyphoscoliotic type 11Feb 9, 2024
Epidermolysis bullosa pruriginosa2Mar 4, 2021
FG syndrome 41Apr 16, 2022
Familial juvenile hyperuricemic nephropathy type 11Nov 9, 2017
Fanconi-Bickel syndrome1Oct 30, 2017
Fetal akinesia deformation sequence 32Dec 12, 2022
Flat nasal alae1May 3, 2019
Genu valgum1May 7, 2019
Global developmental delay1May 7, 2019
Glycogen storage disease IXc1Dec 15, 2024
High, narrow palate1May 7, 2019
Homocystinuria due to methylene tetrahydrofolate reductase deficiency3Oct 15, 2021
Hutchinson-Gilford syndrome1Dec 12, 2024
Hyperekplexia 11Jan 2, 2018
Hyperreflexia1May 12, 2019
Hypogonadotropic hypogonadism 7 with or without anosmia1May 3, 2019
Hypomyelinating leukodystrophy 31Apr 16, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1Apr 16, 2022
Hypoplasia of the corpus callosum1May 7, 2019
Infantile neuroaxonal dystrophy1Feb 9, 2024
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Oct 18, 2021
Intellectual disability, autosomal recessive 131Oct 24, 2020
Intellectual disability-epilepsy-extrapyramidal syndrome1Apr 16, 2022
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata1Nov 22, 2020
Junctional epidermolysis bullosa with pyloric atresia1Mar 2, 2021
Larsen syndrome1Feb 9, 2024
Leukodystrophy, hypomyelinating, 171Oct 27, 2020
Lissencephaly 7 with cerebellar hypoplasia1Jul 9, 2025
Lissencephaly 81Feb 9, 2024
Lissencephaly due to TUBA1A mutation1Dec 28, 2020
Long fingers1May 7, 2019
Long toe1May 7, 2019
Lumbar hyperlordosis1May 7, 2019
Lymphatic malformation 131Apr 12, 2023
Lymphatic malformation 62Jul 11, 2025
Marfan syndrome1Dec 12, 2024
Marshall-Smith syndrome1Jan 9, 2018
Meckel syndrome, type 32Jul 25, 2025
Megalocornea1May 7, 2019
Meier-Gorlin syndrome 11Oct 27, 2020
Microcephalic osteodysplastic primordial dwarfism type II3Oct 26, 2020
Microcephaly1Oct 28, 2020
Microcephaly 16, primary, autosomal recessive1Nov 2, 2021
Microcephaly 17, primary, autosomal recessive3Apr 5, 2021
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Oct 28, 2020
Microcephaly 21, primary, autosomal recessive1Dec 30, 2020
Microcephaly 5, primary, autosomal recessive1Apr 5, 2021
Microcephaly, seizures, and developmental delay1Oct 20, 2021
Micropenis1May 3, 2019
Microphthalmia, isolated, with coloboma 92Jan 5, 2018
Midface retrusion2May 7, 2019
Mitochondrial DNA depletion syndrome 12Sep 29, 2017
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Dec 29, 2021
Mucolipidosis type II1Jul 11, 2025
Mucopolysaccharidosis, MPS-II55May 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Apr 16, 2022
Narrow forehead1May 3, 2019
Neurodevelopmental delay1May 7, 2019
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Dec 31, 2020
Niemann-Pick disease, type C12Apr 17, 2022
Noonan syndrome 101Jul 12, 2025
Obesity1May 3, 2019
Oculocerebrofacial syndrome, Kaufman type1Apr 16, 2022
Orofaciodigital syndrome 161Apr 16, 2022
Osteodysplastic primordial dwarfism, type 12Dec 29, 2020
Osteogenesis imperfecta type 83Jul 10, 2025
Osteogenesis imperfecta, perinatal lethal1Jan 16, 2025
Pitt-Hopkins syndrome1Oct 26, 2020
Pointed chin1May 7, 2019
Polysyndactyly of hallux1May 12, 2019
Pontocerebellar hypoplasia, type 121Oct 26, 2020
Pontoneocerebellar hypoplasia1Oct 20, 2021
Postaxial hand polydactyly2May 12, 2019
Proptosis1May 7, 2019
Proximal placement of thumb1May 7, 2019
Ptosis1May 12, 2019
Pyknodysostosis10Oct 23, 2020
Pyruvate carboxylase deficiency1Jan 2, 2018
Recessive dystrophic epidermolysis bullosa8Apr 27, 2021
Renpenning syndrome1Dec 30, 2020
Rett syndrome1Dec 30, 2020
Rod-cone dystrophy1May 3, 2019
Round face1May 3, 2019
Rubinstein-Taybi syndrome due to CREBBP mutations1Jul 10, 2025
Seckel syndrome1Oct 27, 2020
See cases2Dec 30, 2021
Short finger1May 7, 2019
Short nose1May 7, 2019
Short palpebral fissure1May 12, 2019
Short stature1May 7, 2019
Short toe1May 7, 2019
Skeletal dysplasia1Jul 11, 2025
Small thenar eminence1May 1, 2019
Specific learning disability1May 3, 2019
Sphingolipid activator protein 1 deficiency1Apr 16, 2022
Split hand-foot malformation 11Jun 19, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations4Feb 7, 2025
Strabismus1May 7, 2019
Stromme syndrome1Apr 5, 2021
Tented upper lip vermilion1May 7, 2019
Thumb deformity1May 1, 2019
Trichorhinophalangeal dysplasia type I1May 11, 2019
Ullrich congenital muscular dystrophy 1A2Feb 9, 2024
Umbilical hernia1May 12, 2019
Vici syndrome1Apr 20, 2022
Warburg micro syndrome 11Sep 26, 2017
Wieacker-Wolff syndrome1Apr 16, 2022
X-linked hydrocephalus syndrome1Apr 9, 2025
X-linked lissencephaly with abnormal genitalia1Feb 7, 2025