GenTIGS

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

Conflicting classifications of pathogenicity 1

Likely benign 1

Likely pathogenic 1

Uncertain significance 3

Variant name	Variant type	Phenotype	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_024757.5(EHMT1):c.3461+1G>C	Single nucleotide variant	Kleefstra syndrome 1	Likely pathogenic	splice donor variant	rs2538750175	.Lifecell International Pvt. Ltd
NM_024757.5(EHMT1):c.1332G>A (p.Arg444=)	Single nucleotide variant	Kleefstra syndrome 1	Likely benign	synonymous variant	rs1588533740	.Centre for Medical Genetics, Mumbai
NM_170606.3(KMT2C):c.13273G>A (p.Asp4425Asn)	Single nucleotide variant	Kleefstra syndrome 2	Uncertain significance	missense variant	rs2129095473	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)	Single nucleotide variant	Kleefstra syndrome 2	Uncertain significance	missense variant	rs2129137318	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile)	Single nucleotide variant	Kleefstra syndrome 2	Uncertain significance	missense variant	rs747180312	.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)	Single nucleotide variant	Global developmental delay Cerebellar atrophy Kleefstra syndrome 2 Kleefstra syndrome 2	Conflicting classifications of pathogenicity	nonsense	rs58528565	.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology .Neuberg Centre For Genomic Medicine, NCGM

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