GenTIGS

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

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

Likely pathogenic 1

Pathogenic 1

Pathogenic/Likely pathogenic 4

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_198239.2(CCN6):c.298T>A (p.Cys100Ser)	Single nucleotide variant	Chr6:112061240	Likely pathogenic	Missense variant\|non-coding transcript variant		.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
NM_198239.2(CCN6):c.49-1G>A	Single nucleotide variant	Chr6:112060990	Pathogenic/Likely pathogenic	Splice acceptor variant	rs781864926	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)	Indel	Chr6:112061238 - 112061240	Pathogenic/Likely pathogenic	Missense variant\|non-coding transcript variant	rs2546920176	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)	Single nucleotide variant	Chr6:112061175	Pathogenic/Likely pathogenic	Missense variant\|non-coding transcript variant	rs1562595388	.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani .Neuberg Centre For Genomic Medicine, NCGM
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)	Single nucleotide variant	Chr6:112069565	Pathogenic/Likely pathogenic	Missense variant\|non-coding transcript variant	rs781986930	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics
NM_198239.2(CCN6):c.589+1G>A	Single nucleotide variant	Chr6:112064998	Pathogenic	Splice donor variant	rs879255273	.Human Genetics Research Lab, Central University of Jammu

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution