GenTIGS

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

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

Conflicting classifications of pathogenicity 8

Pathogenic 8

Pathogenic/Likely pathogenic 5

Uncertain significance 1

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_001148.6(ANK2):c.10243A>G (p.Thr3415Ala)	Single nucleotide variant	Chr4:113358861	Uncertain significance	Intron variant\|missense variant	rs864321653	.Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)	Single nucleotide variant	Chr12:2610661	Conflicting classifications of pathogenicity	Missense variant	rs373124557	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)	Single nucleotide variant	Chr7:150947728	Conflicting classifications of pathogenicity	Missense variant	rs199473011	.Lifecell International Pvt. Ltd
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)	Single nucleotide variant	Chr7:150951473	Pathogenic	Missense variant	rs199472970	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1686-2A>G	Single nucleotide variant	Chr11:2776984	Pathogenic/Likely pathogenic	Splice acceptor variant	rs878854350	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)	Single nucleotide variant	Chr11:2572087	Conflicting classifications of pathogenicity	Missense variant	rs794728513	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1733-1G>C	Single nucleotide variant	Chr11:2777975	Pathogenic	Splice acceptor variant	rs878854348	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	Deletion	Chr11:2527984	Pathogenic	Frameshift variant	rs878854347	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	Single nucleotide variant	Chr11:2585230	Conflicting classifications of pathogenicity	Missense variant	rs779383393	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	Single nucleotide variant	Chr11:2570707	Pathogenic/Likely pathogenic	Missense variant	rs794728568	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)	Single nucleotide variant	Chr11:2778005	Conflicting classifications of pathogenicity	Missense variant	rs794728536	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)	Single nucleotide variant	Chr11:2775966	Conflicting classifications of pathogenicity	Missense variant	rs199472793	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	Microsatellite	Chr11:2572890 - 2572892	Pathogenic	Inframe_indel\|inframe_deletion	rs397508127	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)	Microsatellite	Chr11:2572886 - 2572888	Pathogenic/Likely pathogenic	Inframe_indel\|inframe_deletion	rs397508126	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	Single nucleotide variant	Chr11:2570685	Pathogenic	Missense variant	rs199473394	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	Single nucleotide variant	Chr11:2570652	Pathogenic	Missense variant	rs179489	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)	Single nucleotide variant	Chr11:2777003	Pathogenic/Likely pathogenic	Missense variant	rs199472806	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	Single nucleotide variant	Chr11:2583545	Pathogenic	Synonymous variant	rs1800171	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	Single nucleotide variant	Chr11:2572963	Conflicting classifications of pathogenicity	Missense variant	rs120074187	.Bioinformatics dept., Datar Cancer Genetics Limited, India
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	Single nucleotide variant	Chr11:2570719	Pathogenic/Likely pathogenic	Missense variant	rs120074178	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)	Single nucleotide variant	Chr3:38550679	Conflicting classifications of pathogenicity	Missense variant	rs370694515	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)	Single nucleotide variant	Chr3:38606058	Pathogenic	Missense variant	rs72549410	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution