GenTIGS

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

An X-linked dominant mode(s) within the Immune disorders category

Conflicting classifications of pathogenicity 1

Likely pathogenic 1

Pathogenic 4

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)	Single nucleotide variant	ChrX:101375159	Pathogenic	Nonsense	rs2147448164	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000061.3(BTK):c.164dup (p.Ile56fs)	Duplication	ChrX:101374611 - 101374612	Pathogenic	Frameshift variant	rs2147447605	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000061.3(BTK):c.1632-2A>T	Single nucleotide variant	ChrX:101353990	Pathogenic	Splice acceptor variant	rs886039555	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)	Single nucleotide variant	ChrX:101357510	Pathogenic	Nonsense\|intron variant	rs782429199	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	Single nucleotide variant	ChrX:101359345	Likely pathogenic	Nonsense	rs2147431031	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000061.3(BTK):c.998A>G (p.His333Arg)	Single nucleotide variant	ChrX:101358414	Conflicting classifications of pathogenicity	Missense variant	rs193922133	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution