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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526007	NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg)	ABCC8 (H1536R +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526020	NM_000352.6(ABCC8):c.4361T>G (p.Leu1454Arg)	ABCC8 (L1453R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 1526006	NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr)	ABCC8 (S1421T +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526005	NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)	ABCC8 (A1262V +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 434047	NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)	ABCC8 (P1198L +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 210076	NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	ABCC8 (R1182W +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +7 more	GPathogenic/Likely pathogenic
Select item 1526004	NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys)	ABCC8 (R1014C +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GUncertain significance
Select item 1525997	NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val)	ABCC8 (E970V +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1526019	NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter)	ABCC8 (W897* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 594977	NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)	ABCC8 (A848T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1526018	NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)	ABCC8 (L723P +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GConflicting classifications of pathogenicity
Select item 434056	NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	ABCC8 (R598* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic
Select item 1526003	NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)	ABCC8 (F535L +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526017	NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)	ABCC8 (Q443* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 21170	NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)	ABCC8 (L225P)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 1526002	NM_000352.6(ABCC8):c.643G>A (p.Val215Ile)	ABCC8 (V215I)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526001	NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr)	ABCC8 (D212Y)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 9102	NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)	ABCC8 (F132L)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 210074	NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	ABCC8 (G111R)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +3 more	GPathogenic/Likely pathogenic
Select item 1526016	NM_000352.6(ABCC8):c.267del (p.Ile89fs)	ABCC8 (I89fs)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 551343	NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)	ABCC8 (G70R)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 555848	NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)	ABCC8 (I49F)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 1526015	NM_000352.6(ABCC8):c.61del (p.Val21fs)	ABCC8 (V21fs)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
Select item 1526014	NM_000352.6(ABCC8):c.1del (p.Met1fs)	ABCC8 (M1fs)	Deletion (frameshift variant +2 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic

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Items: 24