C2931832[trait identifier] AND "Pars Genome Lab"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157705	NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	ABCC8, KCNJ11 (V1572I +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +10 more	GConflicting classifications of pathogenicity
Select item 157704	NM_000352.6(ABCC8):c.4609-40A>G	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1169205	NM_000352.6(ABCC8):c.4608+54G>C	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +4 more	GBenign
Select item 35612	NM_000352.6(ABCC8):c.4120-19C>T	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 157700	NM_000352.6(ABCC8):c.4120-27T>C	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1177452	NM_000352.6(ABCC8):c.4119+93G>T	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 157699	NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	ABCC8 (A1369S +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +9 more	GBenign
Select item 157698	NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +9 more	GBenign
Select item 157694	NM_000352.6(ABCC8):c.2820+17A>G	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +7 more	GConflicting classifications of pathogenicity
Select item 157691	NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GBenign
Select item 1177448	NM_000352.6(ABCC8):c.2390+219T>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177449	NM_000352.6(ABCC8):c.2390+123C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177450	NM_000352.6(ABCC8):c.2390+93C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177451	NM_000352.6(ABCC8):c.2256-50T>C	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 157688	NM_000352.6(ABCC8):c.2117-3C>T	ABCC8	Single nucleotide variant (intron variant)	Leucine-induced hypoglycemia +7 more	GBenign
Select item 157686	NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GConflicting classifications of pathogenicity
Select item 157684	NM_000352.6(ABCC8):c.1686C>T (p.His562=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GConflicting classifications of pathogenicity
Select item 210067	NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	ABCC8 (C418R +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +8 more	GConflicting classifications of pathogenicity
Select item 157707	NM_000352.6(ABCC8):c.579+14C>T	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +7 more	GConflicting classifications of pathogenicity
Select item 157687	NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GConflicting classifications of pathogenicity

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Items: 20