GenTIGS

Variants in ClinVar from 582 of 1004 Rare Genetic Disorders of GenTIGS

An Autosomal dominant mode(s) within the Cancer disorders category

Conflicting classifications of pathogenicity 1

Pathogenic 1

Pathogenic/Likely pathogenic 2

Uncertain significance 1

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)	Single nucleotide variant	Chr12:120994351	Uncertain significance	Missense variant	rs555681479	.Molecular Genetics, Madras Diabetes Research Foundation
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	Single nucleotide variant	Chr17:37739490	Pathogenic/Likely pathogenic	Missense variant	rs121918675	.Molecular Genetics, Madras Diabetes Research Foundation
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	Single nucleotide variant	Chr3:10149805	Pathogenic	Missense variant\|3 prime UTR variant	rs730882035	.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	Single nucleotide variant	Chr3:10149822	Pathogenic/Likely pathogenic	Missense variant\|3 prime UTR variant	rs5030820	.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	Single nucleotide variant	Chr3:10142019	Conflicting classifications of pathogenicity	Missense variant	rs757781272	.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution