"Molecular Genetics, Madras Diabetes Research Foundation"[submitter] A - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526011	NM_000207.3(INS):c.326G>T (p.Cys109Phe)	INS-IGF2, INS (C109F)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526010	NM_000207.3(INS):c.322T>G (p.Tyr108Asp)	INS, INS-IGF2 (Y108D)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526009	NM_000207.3(INS):c.293G>T (p.Ser98Ile)	INS, INS-IGF2 (S98I)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 13387	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	INS, INS-IGF2 (C96Y)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +2 more	GConflicting classifications of pathogenicity
Select item 21117	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	INS, INS-IGF2 (R89C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13389	NM_000207.3(INS):c.143T>G (p.Phe48Cys)	INS-IGF2, INS (F48C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GLikely pathogenic/Likely risk allele
Select item 1526013	NM_000207.3(INS):c.103C>A (p.Leu35Met)	INS, INS-IGF2 (L35M)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526012	NM_000207.3(INS):c.101A>C (p.His34Pro)	INS, INS-IGF2 (H34P)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 21122	NM_000207.3(INS):c.94G>A (p.Gly32Ser)	INS, INS-IGF2 (G32S)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GPathogenic/Likely pathogenic