ClinVar Miner

Variants from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Location: India  Primary collection method: clinical testing
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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 total
103 59 19 0 0 181

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
IDS 23 8 1 32
IDS, LOC106050102 13 7 1 21
COL7A1 5 3 2 10
CTSK 5 2 3 10
NPR2 4 0 0 4
CHST3 3 0 0 3
CIT 1 1 1 3
HMBS 2 1 0 3
MTHFR 2 1 0 3
PCNT 3 0 0 3
CLASP1, RNU4ATAC 2 0 0 2
DOK7 0 2 0 2
ECEL1 2 0 0 2
NFIX 1 1 0 2
NPC1 1 1 0 2
RNASEH2A 0 2 0 2
ROR2 0 2 0 2
TENM3 0 2 0 2
TRIT1 2 0 0 2
TYMP 2 0 0 2
VARS1 0 2 0 2
AFF2, CD99L2, CXorf51A, CXorf51B, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FMR1, FMR1NB, FRAXA, FRAXE, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDS, LINC00850, LINC02927, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC109396974, LOC121627983, LOC122319696, LOC125467790, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC129929048, LOC129929049, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, MAGEA11, MAGEA8, MAGEA9, MAGEA9B, MAMLD1, MIR2114, MIR4330, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, SLITRK2, SPANXN1, TMEM185A 1 0 0 1
AIMP1 0 0 1 1
AIMP2 0 1 0 1
ANKLE2 0 0 1 1
ARPC1A, ARPC1B, ASB4, ASNS, ATP5MF, ATP5MF-PTCD1, AZGP1, BAIAP2L1, BET1, BHLHA15, BRI3, BUD31, C7orf76, CALCR, CASD1, CDK6, COL1A2, COPS6, CPSF4, CYP3A4, CYP3A43, CYP3A5, CYP3A7, DLX5, DLX6, DYNC1I1, FAM200A, GJC3, GNG11, GNGT1, HEPACAM2, KPNA7, LMTK2, MIR489, NPTX2, OCM2, OR2AE1, PDAP1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, PTCD1, SAMD9, SAMD9L, SDHAF3, SEM1, SGCE, SLC25A13, SMURF1, TAC1, TECPR1, TFPI2, TMEM130, TRIM4, TRRAP, VPS50, ZKSCAN1, ZKSCAN5, ZNF3, ZNF394, ZNF655, ZNF789, ZSCAN21, ZSCAN25 1 0 0 1
ASPM 1 0 0 1
ATRIP, ATRIP-TREX1 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 1
BBIP1 1 0 0 1
BBS1 0 1 0 1
BBS10 1 0 0 1
BBS12 0 1 0 1
BBS4 0 1 0 1
C2orf69 0 1 0 1
CASK 0 1 0 1
CENPF 0 0 1 1
CFAP418 0 1 0 1
CFAP418, LOC130000784 0 1 0 1
CLN6 0 0 1 1
COASY 0 1 0 1
COL4A1 0 1 0 1
DCTN2 0 0 1 1
DEAF1 1 0 0 1
DVL3 0 1 0 1
EPG5 1 0 0 1
ERCC6 1 0 0 1
ERCC6, PGBD3 1 0 0 1
ERMARD 0 0 1 1
FAR1 0 1 0 1
FBXO11, MSH6 1 0 0 1
GALK1, ITGB4 1 0 0 1
GAPDH, NCAPD2 1 0 0 1
GLI3 0 1 0 1
GLRA1 1 0 0 1
IDS, LOC130068781 1 0 0 1
LGI4 1 0 0 1
LOC105371520, TMEM107 0 0 1 1
MECP2 1 0 0 1
MINPP1 1 0 0 1
NALCN 0 1 0 1
NIPBL 0 1 0 1
NPR2, SPAG8 1 0 0 1
ORC1 0 1 0 1
PC 1 0 0 1
PEX7 0 1 0 1
PNKP 1 0 0 1
PNPLA8 0 0 1 1
POLR3B 0 0 1 1
POMGNT1 0 1 0 1
PQBP1 1 0 0 1
PSAP 1 0 0 1
RAB3GAP1 1 0 0 1
SLC13A5 0 0 1 1
SLC2A2 0 1 0 1
SNAP29 1 0 0 1
TBX5 0 1 0 1
TCF4 1 0 0 1
THSD1 1 0 0 1
TRAPPC9 1 0 0 1
TRPS1 1 0 0 1
TUBA1A 1 0 0 1
UBE3B 1 0 0 1
UMOD 0 1 0 1
VIPAS39 0 1 0 1
VPS33B 0 1 0 1
WDR62 0 1 0 1
ZC4H2 0 0 1 1

Condition and significance breakdown #

Total conditions: 83
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Condition pathogenic likely pathogenic uncertain significance total
Mucopolysaccharidosis, MPS-II 38 15 2 55
Pyknodysostosis 5 2 3 10
Recessive dystrophic epidermolysis bullosa 4 2 2 8
Acromesomelic dysplasia 1, Maroteaux type 5 0 0 5
Acute intermittent porphyria 2 1 0 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2 1 0 3
Microcephalic osteodysplastic primordial dwarfism type II 3 0 0 3
Microcephaly 17, primary, autosomal recessive 1 1 1 3
Spondyloepiphyseal dysplasia with congenital joint dislocations 3 0 0 3
Aicardi-Goutieres syndrome 4 0 2 0 2
Autosomal recessive Robinow syndrome 0 2 0 2
Bardet-biedl syndrome 21 0 2 0 2
Cockayne syndrome type 2 2 0 0 2
Combined oxidative phosphorylation deficiency 35 2 0 0 2
Distal arthrogryposis type 5D 2 0 0 2
Epidermolysis bullosa pruriginosa 1 1 0 2
Fetal akinesia deformation sequence 3 0 2 0 2
Microphthalmia, isolated, with coloboma 9 0 2 0 2
Mitochondrial DNA depletion syndrome 1 2 0 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 2 0 2
Niemann-Pick disease, type C1 1 1 0 2
Osteodysplastic primordial dwarfism, type 1 2 0 0 2
See cases 0 0 2 2
Aicardi-Goutieres syndrome 1 1 0 0 1
Arthrogryposis multiplex congenita 2, neurogenic type 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 0 1 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 1 0 1
Bardet-Biedl syndrome 1 0 1 0 1
Bardet-Biedl syndrome 10 1 0 0 1
Bardet-Biedl syndrome 12 0 1 0 1
Bardet-Biedl syndrome 4 0 1 0 1
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 0 1 0 1
CEDNIK syndrome 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 0 1 1
Combined oxidative phosphorylation deficiency 53 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 1
Congenital laryngomalacia; Megalocornea; Global developmental delay; Pointed chin; Hypoplasia of the corpus callosum; Blue sclerae; Proptosis; Proximal placement of thumb; Short nose; Strabismus; High, narrow palate; Distal ulnar hypoplasia; Long toe; Midface retrusion; Long fingers 0 1 0 1
Cornelia de Lange syndrome 1 0 1 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 1
FG syndrome 4 0 1 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 1
Fanconi-Bickel syndrome 0 1 0 1
Hyperekplexia 1 1 0 0 1
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure 0 1 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Obesity; Downslanted palpebral fissures; Narrow forehead; Round face; Specific learning disability; Micropenis; Rod-cone dystrophy; Postaxial hand polydactyly; Flat nasal alae 1 0 0 1
Hypomyelinating leukodystrophy 3 0 0 1 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 1 0 0 1
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 1
Leukodystrophy, hypomyelinating, 17 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Lymphatic malformation 13 1 0 0 1
Marshall-Smith syndrome 1 0 0 1
Meier-Gorlin syndrome 1 0 1 0 1
Microcephaly 0 1 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 1
Microcephaly 21, primary, autosomal recessive 1 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 1
Microcephaly, seizures, and developmental delay 1 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 1
Oculocerebrofacial syndrome, Kaufman type 1 0 0 1
Orofaciodigital syndrome 16 0 0 1 1
Pitt-Hopkins syndrome 1 0 0 1
Pontocerebellar hypoplasia, type 12 0 1 0 1
Pontoneocerebellar hypoplasia 1 0 0 1
Pyruvate carboxylase deficiency 1 0 0 1
Renpenning syndrome 1 0 0 1
Rett syndrome 1 0 0 1
Seckel syndrome 1 0 0 1
Short stature; Dental crowding; Genu valgum; Anteverted nares; Clinodactyly of the 5th finger; Short toe; Lumbar hyperlordosis; Short finger; Tented upper lip vermilion; Midface retrusion; Neurodevelopmental delay 0 1 0 1
Sphingolipid activator protein 1 deficiency 1 0 0 1
Split hand-foot malformation 1 1 0 0 1
Stromme syndrome 0 0 1 1
Thumb deformity; Atrial septal defect; Small thenar eminence; Clubbing of fingers; Blue nevus; Abnormal radial ray morphology 0 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 1
Vici syndrome 1 0 0 1
Warburg micro syndrome 1 1 0 0 1
Wieacker-Wolff syndrome 0 0 1 1

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