GenTIGS

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

Primary ciliary dyskinesia

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

Likely pathogenic 4

Pathogenic 8

Pathogenic/Likely pathogenic 2

Uncertain significance 2

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_017950.4(CCDC40):c.967C>T (p.Gln323Ter)	Single nucleotide variant	Chr17:80050091	Pathogenic	Nonsense	rs2510290432	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)	Single nucleotide variant	Chr5:55232380	Likely pathogenic	Nonsense\|non-coding transcript variant	rs2478547859	.Lifecell International Pvt. Ltd
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu)	Single nucleotide variant	Chr7:21864644	Uncertain significance	Missense variant	rs1783201954	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His)	Single nucleotide variant	Chr5:13718888	Pathogenic	Missense variant	rs1744666930	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser)	Single nucleotide variant	Chr5:13780875	Uncertain significance	Missense variant	rs756306722	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter)	Single nucleotide variant	Chr6:38894749	Pathogenic	Nonsense	rs149070832	.Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
NM_001481.3(DRC4):c.495+1G>T	Single nucleotide variant	Chr16:90032925	Likely pathogenic	Splice donor variant	rs2543473366	.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp)	Single nucleotide variant	Chr17:35752643	Pathogenic	Missense variant	rs2509920625	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	Single nucleotide variant	Chr19:12897824	Pathogenic/Likely pathogenic	Missense variant\|non-coding transcript variant	rs121434369	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics
NM_001270974.2(HYDIN):c.12444-1G>A	Single nucleotide variant	Chr16:70850656	Likely pathogenic	Splice acceptor variant	rs1396390185	.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
NM_001270974.2(HYDIN):c.2065dup (p.Ile689fs)	Duplication	Chr16:71067299 - 71067300	Likely pathogenic	Frameshift variant	rs2082305577	.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)	Single nucleotide variant	Chr5:55222336	Pathogenic	Missense variant	rs2478513916	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)	Single nucleotide variant	Chr11:59211893	Pathogenic	Missense variant	rs2496452431	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe)	Single nucleotide variant	Chr4:102566991	Pathogenic	Missense variant	rs1387606271	.Pulmonary Medicine, Postgraduate Institute of Medical Education and Research
NM_001364171.2(ODAD1):c.1246C>T (p.Gln416Ter)	Single nucleotide variant	Chr19:48298335	Pathogenic	Nonsense	rs1303454567	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)	Single nucleotide variant	Chr19:48312029	Pathogenic/Likely pathogenic	Nonsense	rs752269093	.Lifecell International Pvt. Ltd

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution