"ABCC8-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188836	NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	ABCC8 (L1543P +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +6 more	GPathogenic/Likely pathogenic
Select item 585348	NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)	ABCC8 (R1538Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2628701	NM_000352.6(ABCC8):c.4589G>A (p.Arg1530His)	ABCC8 (R1529H +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 3032305	NM_000352.6(ABCC8):c.4577C>G (p.Ala1526Gly)	ABCC8 (A1525G +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 2635444	NM_000352.6(ABCC8):c.4538T>C (p.Met1513Thr)	ABCC8 (M1512T +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GLikely pathogenic
Select item 2630438	NM_000352.6(ABCC8):c.4533T>G (p.Ile1511Met)	ABCC8 (I1510M +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 35619	NM_000352.6(ABCC8):c.4412-14C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +10 more	GConflicting classifications of pathogenicity
Select item 1134831	NM_000352.6(ABCC8):c.4359C>T (p.Ala1453=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1102107	NM_000352.6(ABCC8):c.4307+8C>G	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +1 more	GLikely benign
Select item 1096994	NM_000352.6(ABCC8):c.4284C>T (p.Pro1428=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +1 more	GLikely benign
Select item 743591	NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 196880	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	ABCC8 (F1388del +3 more)	Deletion (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GPathogenic
Select item 585346	NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)	ABCC8 (R1379H +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +3 more	GPathogenic/Likely pathogenic
Select item 989957	NM_000352.6(ABCC8):c.4119+10C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +3 more	GConflicting classifications of pathogenicity
Select item 793518	NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1339207	NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn)	ABCC8 (D1353N +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GUncertain significance
Select item 9088	NM_000352.6(ABCC8):c.3989-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hyperinsulinism +6 more	GPathogenic
Select item 1961048	NM_000352.6(ABCC8):c.3926G>A (p.Gly1309Glu)	ABCC8 (G1308E +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GUncertain significance
Select item 765816	NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +1 more	GBenign/Likely benign
Select item 1092255	NM_000352.6(ABCC8):c.3867+7G>C	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +1 more	GLikely benign
Select item 446771	NM_000352.6(ABCC8):c.3867+7G>A	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 303758	NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 3041607	NM_000352.6(ABCC8):c.3834C>T (p.Gly1278=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition	GLikely benign
Select item 1526005	NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)	ABCC8 (A1262V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ABCC8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 877890	NM_000352.6(ABCC8):c.3650+4C>G	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2630579	NM_000352.6(ABCC8):c.3622G>A (p.Glu1208Lys)	ABCC8 (E1207K +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 740559	NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 706690	NM_000352.6(ABCC8):c.3516C>T (p.Ile1172=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +2 more	GLikely benign
Select item 303763	NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 1166162	NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +1 more	GBenign/Likely benign
Select item 210075	NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2636684	NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)	ABCC8 (S1038R +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 706691	NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 594977	NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)	ABCC8 (A848T +3 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension +3 more	GUncertain significance
Select item 2163111	NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)	ABCC8, LOC110121471 (V769M +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GUncertain significance
Select item 1533896	NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)	ABCC8 (T756R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877185	NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)	ABCC8 (A736S +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +8 more	GUncertain significance
Select item 2631665	NM_000352.6(ABCC8):c.2117-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	ABCC8-related condition	GPathogenic
Select item 962983	NM_000352.6(ABCC8):c.2117-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	ABCC8-related condition +3 more	GPathogenic
Select item 303778	NM_000352.6(ABCC8):c.2041-12C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2635754	NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)	ABCC8 (R652W +2 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 596784	NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)	ABCC8 (A625V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1696124	NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile)	ABCC8 (V600I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 434056	NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	ABCC8 (R598* +1 more)	Single nucleotide variant (nonsense +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GPathogenic
Select item 1697229	NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3036764	NM_000352.6(ABCC8):c.1672-4A>G	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition	GLikely benign
Select item 3048235	NM_000352.6(ABCC8):c.1672-26G>C	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition	GLikely benign
Select item 3050519	NM_000352.6(ABCC8):c.1644G>A (p.Thr548=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition	GLikely benign
Select item 303783	NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)	ABCC8 (A513T +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +6 more	GConflicting classifications of pathogenicity
Select item 736485	NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2631658	NM_000352.6(ABCC8):c.1525C>A (p.Leu509Met)	ABCC8 (L508M +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 434037	NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 3045024	NM_000352.6(ABCC8):c.1468-41G>A	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition	GLikely benign
Select item 804489	NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)	ABCC8 (Q473R +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +3 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 446763	NM_000352.6(ABCC8):c.1177-56G>A	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2443399	NM_000352.6(ABCC8):c.1168G>A (p.Ala390Thr)	ABCC8 (A389T +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GUncertain significance
Select item 3052544	NM_000352.6(ABCC8):c.1104G>T (p.Leu368=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition	GLikely benign
Select item 2576215	NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)	ABCC8 (D309V +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GUncertain significance
Select item 2628538	NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)	ABCC8 (R305L +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1693115	NM_000352.6(ABCC8):c.878A>G (p.His293Arg)	ABCC8 (H292R +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +2 more	GUncertain significance
Select item 157708	NM_000352.6(ABCC8):c.823-8C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1580937	NM_000352.6(ABCC8):c.702C>T (p.Asn234=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GLikely benign
Select item 749718	NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)	ABCC8 (G163S)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 303786	NM_000352.6(ABCC8):c.486C>T (p.Ile162=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +6 more	GConflicting classifications of pathogenicity
Select item 303788	NM_000352.6(ABCC8):c.291-3C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1677653	NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	ABCC8 (G70R)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 303789	NM_000352.6(ABCC8):c.105G>A (p.Pro35=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 1152313	NM_000352.6(ABCC8):c.90G>A (p.Ala30=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related condition +1 more	GLikely benign
Select item 3047756	NM_000352.6(ABCC8):c.88G>A (p.Ala30Thr)	ABCC8 (A30T)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition	GUncertain significance
Select item 1390642	NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	ABCC8 (Y15*)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2137020	NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)	ABCC8 (G7R)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +3 more	GLikely pathogenic
Select item 992071	NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)	ABCC8 (P2T)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 3039886	NM_000352.6(ABCC8):c.-10C>G	ABCC8	Single nucleotide variant (5 prime UTR variant +1 more)	ABCC8-related condition	GLikely benign
Select item 3056721	NC_000011.10:g.17476972A>G	ABCC8	Single nucleotide variant	ABCC8-related condition	GLikely benign

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Items: 75