GenTIGS

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

An Autosomal recessive mode(s) within the Multisystemic disorders category

Conflicting classifications of pathogenicity 1

Likely pathogenic 2

Pathogenic 1

Pathogenic/Likely pathogenic 1

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_001278716.2(FBXL4):c.1703-2A>G	Single nucleotide variant	Chr6:98874443	Likely pathogenic	Splice acceptor variant		.Department of Pediatrics, GMC Srinagar, Government Medical College Srinagar
NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)	Deletion	Chr6:98874357	Likely pathogenic	Frameshift variant\|non-coding transcript variant	rs2128374840	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_130837.3(OPA1):c.4_5+2del	Deletion	Chr3:193692130 - 193692133	Conflicting classifications of pathogenicity	Splice donor variant	rs754411271	.Lifecell International Pvt. Ltd
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	Single nucleotide variant	Chr15:89329055	Pathogenic/Likely pathogenic	Missense variant	rs121918044	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)	Single nucleotide variant	Chr22:50527606	Pathogenic	Missense variant	rs761665644	.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution