GenTIGS

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

An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category

Conflicting classifications of pathogenicity 1

Likely pathogenic 9

Pathogenic 7

Uncertain significance 2

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)	Deletion	Chr17:80112695 - 80112703	Likely pathogenic	Inframe_deletion	rs2510381693	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)	Single nucleotide variant	Chr17:80117081	Likely pathogenic	Missense variant	rs2510396780	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.935del (p.Leu312fs)	Deletion	Chr17:80107876	Likely pathogenic	Frameshift variant	rs2510359539	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.2481+1G>T	Single nucleotide variant	Chr17:80117750	Likely pathogenic	Splice donor variant	rs2510400033	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)	Single nucleotide variant	Chr17:80110814	Likely pathogenic	Nonsense	rs2510374041	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)	Single nucleotide variant	Chr17:80112684	Conflicting classifications of pathogenicity	Missense variant	rs1327361418	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)	Single nucleotide variant	Chr17:80110742	Uncertain significance	Missense variant	rs1337100943	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	Single nucleotide variant	Chr17:80118789	Uncertain significance	Missense variant	rs1403885484	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)	Single nucleotide variant	Chr17:80108337	Likely pathogenic	Missense variant	rs202095215	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	Single nucleotide variant	Chr17:80112643	Likely pathogenic	Missense variant	rs1393386120	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1551+1G>T	Single nucleotide variant	Chr17:80110841	Pathogenic	Splice donor variant	rs770780848	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	Single nucleotide variant	Chr17:80113002	Likely pathogenic	Missense variant	rs778418246	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	Single nucleotide variant	Chr17:80112622	Pathogenic	Missense variant	rs377544304	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	Single nucleotide variant	Chr17:80112664	Likely pathogenic	Missense variant	rs369531647	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	Single nucleotide variant	Chr17:80110837	Pathogenic	Nonsense	rs140826989	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	Single nucleotide variant	Chr17:80112929	Pathogenic	Missense variant	rs536906561	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.1A>G (p.Met1Val)	Single nucleotide variant	Chr17:80104587	Pathogenic	Missense variant\|initiator_codon_variant	rs786204467	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	Single nucleotide variant	Chr17:80107818	Pathogenic	Missense variant	rs121907945	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
NM_000152.5(GAA):c.-32-13T>G	Single nucleotide variant	Chr17:80104542	Pathogenic	Intron variant	rs386834236	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution