GenTIGS

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

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

Conflicting classifications of pathogenicity 1

Likely pathogenic 3

Pathogenic 4

Pathogenic/Likely pathogenic 3

Uncertain significance 3

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NG_012059.2:g.1_302925del	Deletion	ChrX:108141550 - 108444474	Likely pathogenic			.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_000091.5(COL4A3):c.3725G>A (p.Gly1242Asp)	Single nucleotide variant	Chr2:227297833	Uncertain significance	Missense variant		.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_000091.5(COL4A3):c.172_178dup (p.Pro60fs)	Duplication	Chr2:227240168 - 227240169	Pathogenic	Frameshift variant		.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
NM_000091.5(COL4A3):c.1526T>A (p.Leu509Ter)	Single nucleotide variant	Chr2:227269931	Pathogenic	Nonsense	rs2469677416	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_000092.5(COL4A4):c.4217-8_4217-7del	Deletion	Chr2:227012304 - 227012305	Uncertain significance	Intron variant		.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_000092.5(COL4A4):c.3818-1G>A	Single nucleotide variant	Chr2:227030599	Pathogenic/Likely pathogenic	Splice acceptor variant	rs2473284144	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_033380.3(COL4A5):c.1862G>T (p.Gly621Val)	Single nucleotide variant	ChrX:108598784	Uncertain significance	Missense variant	rs1569494322	.General Medicine, Assam Medical College and Hospital
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)	Deletion	ChrX:108687543	Pathogenic/Likely pathogenic	Frameshift variant	rs1603323174	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_033380.3(COL4A5):c.2918-1G>A	Single nucleotide variant	ChrX:108624235	Pathogenic	Splice acceptor variant	rs104886372	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs)	Deletion	ChrX:108680712	Likely pathogenic	Frameshift variant	rs1131692246	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg)	Single nucleotide variant	ChrX:108597479	Pathogenic/Likely pathogenic	Missense variant	rs281874674	.Dhiti Omics Technologies Pvt. Ltd.
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	Single nucleotide variant	ChrX:108666549	Conflicting classifications of pathogenicity	Missense variant	rs104886237	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)	Single nucleotide variant	ChrX:108655403	Pathogenic	Missense variant	rs104886225	.GenePathDx, GenePath diagnostics
NG_011977.1:g.1_264622del	Deletion	ChrX:108434924 - 108699545	Likely pathogenic			.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution