GenTIGS

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

An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders category

Conflicting classifications of pathogenicity 1

Likely pathogenic 4

Pathogenic 3

Pathogenic/Likely pathogenic 6

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_018368.4(LMBRD1):c.562+4_562+7del	Deletion	Chr6:69741782 - 69741785	Likely pathogenic	Splice donor variant	rs1767108423	.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)	Deletion	Chr6:69752265	Pathogenic/Likely pathogenic	Frameshift variant	rs1562112648	.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	Single nucleotide variant	Chr1:45508329	Pathogenic	Nonsense	rs121918241	.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	Single nucleotide variant	Chr2:149570119	Pathogenic/Likely pathogenic	Missense variant	rs118204046	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)	Single nucleotide variant	Chr1:11791302	Pathogenic	Nonsense	rs2100499494	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)	Single nucleotide variant	Chr1:11801299	Likely pathogenic	Missense variant	rs147257424	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	Single nucleotide variant	Chr1:11801177	Pathogenic/Likely pathogenic	Missense variant	rs767890671	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	Single nucleotide variant	Chr1:11794825	Pathogenic/Likely pathogenic	Missense variant	rs977038830	.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)	Single nucleotide variant	Chr1:11800322	Likely pathogenic	Missense variant	rs1644355976	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)	Single nucleotide variant	Chr1:11793920	Conflicting classifications of pathogenicity	Missense variant	rs764650203	.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)	Single nucleotide variant	Chr1:11794029	Pathogenic	Nonsense	rs139645527	.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	Single nucleotide variant	Chr1:11800250	Pathogenic/Likely pathogenic	Missense variant	rs574132670	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)	Single nucleotide variant	Chr1:11802915	Pathogenic/Likely pathogenic	Missense variant	rs763539350	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)	Indel	Chr2:44301097 - 44301120	Likely pathogenic	Inframe_indel	rs2465939469	.Lifecell International Pvt. Ltd

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution