GenTIGS

Variants from 496 rare genetic disorders, with a total of 857 reported, submitted from India

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

Likely pathogenic 1

Pathogenic 1

Pathogenic/Likely pathogenic 4

Variant name	Variant type	Germline classification	Molecular consequence	Grch38 Location	dbSNP_ID	Submitter
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	nonsense	Chr10:49470701	rs144445150	.Lifecell International Pvt. Ltd
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)	Deletion	Likely pathogenic	frameshift variant	Chr10:49470846 - 49470847	rs1850765501	.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
NM_000124.4(ERCC6):c.4063-1G>C	single nucleotide variant	Pathogenic/Likely pathogenic	splice acceptor variant	Chr10:49459235	rs766980240	.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	single nucleotide variant	Pathogenic	nonsense\|5 prime UTR variant	Chr10:49524073	rs121917902	.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	nonsense\|5 prime UTR variant	Chr5:60922147	rs1749618632	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	missense variant\|intron variant	Chr5:60904792	rs148393161	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar