GenTIGS

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

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

Conflicting classifications of pathogenicity 1

Likely pathogenic 2

Pathogenic 5

Pathogenic/Likely pathogenic 1

Uncertain significance 4

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_001399.5(EDA):c.686dup (p.Gly230fs)	Duplication	ChrX:70028011 - 70028012	Pathogenic	Frameshift variant	rs1602618442	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_001399.5(EDA):c.180C>A (p.Cys60Ter)	Single nucleotide variant	ChrX:69616488	Pathogenic	Nonsense	rs1131692034	.Centre for Genetic Disorders, Banaras Hindu University
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	Single nucleotide variant	Chr13:20223218	Pathogenic	Missense variant	rs28937872
NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)	Single nucleotide variant	Chr14:35404617	Pathogenic	Nonsense	rs2502188897	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_030916.3(NECTIN4):c.374A>C (p.Tyr125Ser)	Single nucleotide variant	Chr1:161079655	Uncertain significance	Missense variant		.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_002742.3(PRKD1):c.1906-1G>T	Single nucleotide variant	Chr14:29599818	Likely pathogenic	Splice acceptor variant		.Uttarilli Lab, Institute of Bioinformatics
NM_002742.3(PRKD1):c.1982A>G (p.Lys661Arg)	Single nucleotide variant	Chr14:29599741	Uncertain significance	Missense variant		.Uttarilli Lab, Institute of Bioinformatics
NM_002742.3(PRKD1):c.647G>A (p.Arg216His)	Single nucleotide variant	Chr14:29663748	Uncertain significance	Missense variant		.Uttarilli Lab, Institute of Bioinformatics
NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	Single nucleotide variant	Chr3:189866717	Conflicting classifications of pathogenicity	Missense variant	rs2108801803	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_003722.5(TP63):c.953G>A (p.Arg318His)	Single nucleotide variant	Chr3:189867903	Pathogenic/Likely pathogenic	Missense variant	rs121908840	.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)	Single nucleotide variant	Chr3:189867905	Pathogenic	Missense variant	rs121908839	.Lifecell International Pvt. Ltd
NM_025132.4(WDR19):c.98+5G>T	Single nucleotide variant	Chr4:39185822	Uncertain significance	Intron variant	rs2474999448	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)	Single nucleotide variant	Chr4:39253916	Likely pathogenic	Nonsense	rs1460409474	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution