GenTIGS

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

alpha Thalassemia

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

Benign 1

Conflicting classifications of pathogenicity 1

Likely pathogenic 1

Pathogenic 4

Pathogenic/Likely pathogenic 4

Uncertain significance 1

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)	Single nucleotide variant	ChrX:77681834	Conflicting classifications of pathogenicity	Missense variant	rs782785569	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NG_000006.1(HBA1):g.34247_38050del	Deletion	Chr16:172871 - 176674	Pathogenic			.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN
NM_000517.6(HBA2):c.123G>C (p.Lys41Asn)	Single nucleotide variant	Chr16:173152	Uncertain significance	Missense variant	rs281864471	.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN
NM_000517.6(HBA2):c.93_94del	Deletion	Chr16:173692 - 173693	Pathogenic/Likely pathogenic	3 prime UTR variant	rs63751268	.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	Single nucleotide variant	Chr16:173171	Pathogenic/Likely pathogenic	Missense variant	rs281864834
NM_000518.5(HBB):c.92+5G>C	Single nucleotide variant	Chr11:5226925	Pathogenic	Intron variant	rs33915217	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	Deletion	Chr11:5226763 - 5226766	Pathogenic/Likely pathogenic	Frameshift variant	rs80356821	.Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	Single nucleotide variant	Chr11:5227002	Pathogenic	Missense variant	rs334	.Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	Single nucleotide variant	Chr11:5226943	Pathogenic	Missense variant	rs33950507	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics
NM_000517.6(HBA2):c.*107A>G	Single nucleotide variant	Chr16:173707	Benign	3 prime UTR variant	rs2541640	.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	Single nucleotide variant	Chr16:173599	Pathogenic/Likely pathogenic	Stop lost	rs41321345	.Neuberg Centre For Genomic Medicine, NCGM
NM_000558.5(HBA1):c.300+1G>A	Single nucleotide variant	Chr16:177134	Likely pathogenic	Splice donor variant	rs758093235	.Lifecell International Pvt. Ltd

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution