GenTIGS

Variants in ClinVar from 539 of 916 Rare Genetic Disorders of GenTIGS

An Autosomal dominant, Autosomal recessive, X-linked dominant, MT inheritance mode(s) within the Eye disorders category

Conflicting classifications of pathogenicity 4

Likely pathogenic 5

Pathogenic 2

Pathogenic/Likely pathogenic 4

Uncertain significance 4

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	Single nucleotide variant	Chr16:56497760	Pathogenic	Nonsense\|non-coding transcript variant	rs762047808	.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)	Single nucleotide variant	Chr4:15599587	Likely pathogenic	Missense variant	rs1577406415	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_201253.3(CRB1):c.948T>G (p.Cys316Trp)	Single nucleotide variant	Chr1:197347439	Uncertain significance	Missense variant\|non-coding transcript variant\|intron variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_201253.3(CRB1):c.2676+2T>G	Single nucleotide variant	Chr1:197428003	Likely pathogenic	Splice donor variant\|intron variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_201253.3(CRB1):c.2120G>T (p.Cys707Phe)	Single nucleotide variant	Chr1:197421948	Likely pathogenic	Missense variant\|non-coding transcript variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)	Single nucleotide variant	Chr6:63778036	Conflicting classifications of pathogenicity	Missense variant	rs559824825	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)	Insertion	Chr14:67729222 - 67729223	Likely pathogenic	Frameshift variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_152443.3(RDH12):c.211A>G (p.Arg71Gly)	Single nucleotide variant	Chr14:67725122	Uncertain significance	Missense variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)	Single nucleotide variant	Chr8:43192376	Pathogenic/Likely pathogenic	Nonsense	rs1804568176	.Lifecell International Pvt. Ltd
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	Single nucleotide variant	Chr8:43182163	Pathogenic/Likely pathogenic	Missense variant	rs766835582	.Lifecell International Pvt. Ltd
NM_014714.4(IFT140):c.489C>T (p.Gly163=)	Single nucleotide variant	Chr16:1592469	Uncertain significance	Synonymous variant	rs776597097	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_004744.5(LRAT):c.*98C>T	Single nucleotide variant	Chr4:154749234	Conflicting classifications of pathogenicity	3 prime UTR variant	rs529360609	.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	Single nucleotide variant	Chr20:3918717	Pathogenic/Likely pathogenic	Missense variant\|non-coding transcript variant	rs137852967	.Human Genetics Research Lab, Central University of Jammu
NM_001005484.2(OR4F5):c.9+1354del	Deletion	Chr1:66927	Uncertain significance	Intron variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	Single nucleotide variant	Chr4:15991259	Conflicting classifications of pathogenicity	Missense variant	rs761911901	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM
NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter)	Single nucleotide variant	Chr8:54628518	Likely pathogenic	Nonsense\|intron variant	rs1806147660	.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
NM_000329.3(RPE65):c.529del (p.Ala177fs)	Deletion	Chr1:68440967	Pathogenic	Frameshift variant		.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	Single nucleotide variant	Chr1:46193315	Conflicting classifications of pathogenicity	Missense variant	rs762972459	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	Single nucleotide variant	Chr14:88841196	Pathogenic/Likely pathogenic	Synonymous variant\|5 prime UTR variant\|non-coding transcript variant	rs119103286	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution