Related gene-specific medical variations for Gene (Select 110121471) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3128850	NM_000352.6(ABCC8):c.2371A>T (p.Ser791Cys)	ABCC8, LOC110121471 (S790C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2987805	NM_000352.6(ABCC8):c.2391-19C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981401	NM_000352.6(ABCC8):c.2407G>A (p.Glu803Lys)	ABCC8, LOC110121471 (E802K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955569	NM_000352.6(ABCC8):c.2292-17C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905503	NM_000352.6(ABCC8):c.2390+19G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905499	NM_000352.6(ABCC8):c.2292-13C>G	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893214	NM_000352.6(ABCC8):c.2475+16T>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853846	NM_000352.6(ABCC8):c.2390+7del	ABCC8, LOC110121471	Deletion (intron variant)	not provided	GLikely benign
Select item 2841625	NM_000352.6(ABCC8):c.2390+18G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823664	NM_000352.6(ABCC8):c.2391-11A>G	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809349	NM_000352.6(ABCC8):c.2409A>G (p.Glu803=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793055	NM_000352.6(ABCC8):c.2292-13C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754399	NM_000352.6(ABCC8):c.2453del (p.Asp818fs)	ABCC8, LOC110121471 (D818fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2750367	NM_000352.6(ABCC8):c.2475+1G>T	ABCC8, LOC110121471	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2741957	NM_000352.6(ABCC8):c.2390+13C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728214	NM_000352.6(ABCC8):c.2400G>T (p.Met800Ile)	ABCC8, LOC110121471 (M800I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2716233	NM_000352.6(ABCC8):c.2391-17G>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705315	NM_000352.6(ABCC8):c.2391-4C>G	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2678187	NM_000352.6(ABCC8):c.2388del (p.Gln796fs)	ABCC8, LOC110121471 (Q795fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2675870	NM_000352.6(ABCC8):c.2305_2327del (p.Val769fs)	ABCC8, LOC110121471 (V768fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2576209	NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)	ABCC8, LOC110121471 (E784del +3 more)	Microsatellite (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2163111	NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)	LOC110121471, ABCC8 (V769M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2142799	NM_000352.6(ABCC8):c.2390+14G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137015	NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)	ABCC8, LOC110121471 (D812N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2135530	NM_000352.6(ABCC8):c.2298_2308del (p.Arg766fs)	ABCC8, LOC110121471 (R765fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2115463	NM_000352.6(ABCC8):c.2431_2435dup (p.Asp812fs)	ABCC8, LOC110121471 (D811fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2089360	NM_000352.6(ABCC8):c.2295G>A (p.Lys765=)	LOC110121471, ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2036787	NM_000352.6(ABCC8):c.2391-7A>T	LOC110121471, ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035542	NM_000352.6(ABCC8):c.2390+1G>A	ABCC8, LOC110121471	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2031019	NM_000352.6(ABCC8):c.2415C>T (p.Cys805=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029750	NM_000352.6(ABCC8):c.2325del (p.Lys775fs)	ABCC8, LOC110121471 (K776fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2028123	NM_000352.6(ABCC8):c.2385A>G (p.Lys795=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014496	NM_000352.6(ABCC8):c.2301C>T (p.Gly767=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007792	NM_000352.6(ABCC8):c.2334G>T (p.Leu778=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960621	NM_000352.6(ABCC8):c.2421G>A (p.Leu807=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952575	NM_000352.6(ABCC8):c.2442G>A (p.Leu814=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935640	NM_000352.6(ABCC8):c.2475+2T>A	ABCC8, LOC110121471	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1923364	NM_000352.6(ABCC8):c.2319G>T (p.Ser773=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1823791	NM_000352.6(ABCC8):c.2292-16G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806524	NM_000352.6(ABCC8):c.2384A>G (p.Lys795Arg)	LOC110121471, ABCC8 (K794R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1725152	NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)	ABCC8, LOC110121471 (S772* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 1699520	NM_000352.6(ABCC8):c.2457G>C (p.Gln819His)	ABCC8, LOC110121471 (Q818H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687740	NM_000352.6(ABCC8):c.2368G>A (p.Glu790Lys)	ABCC8, LOC110121471 (E789K +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1664782	NM_000352.6(ABCC8):c.2391-17G>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	Diabetes mellitus, transient neonatal, 2 +5 more	GBenign
Select item 1634354	NM_000352.6(ABCC8):c.2328A>G (p.Pro776=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1626109	NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GLikely benign
Select item 1619990	NM_000352.6(ABCC8):c.2292-14C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603431	NM_000352.6(ABCC8):c.2475+8del	ABCC8, LOC110121471	Deletion (intron variant)	not provided	GLikely benign
Select item 1570337	NM_000352.6(ABCC8):c.2376C>G (p.Pro792=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531780	NM_000352.6(ABCC8):c.2391-10C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1459956	NM_000352.6(ABCC8):c.2391-1G>A	ABCC8, LOC110121471	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1338583	NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)	ABCC8, LOC110121471 (R796W +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 1338575	NM_000352.6(ABCC8):c.2414G>A (p.Cys805Tyr)	ABCC8, LOC110121471 (C804Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338472	NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)	ABCC8, LOC110121471 (R824W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1275687	NM_000352.6(ABCC8):c.2291+284dup	ABCC8, LOC110121471	Duplication (intron variant)	not provided	GBenign
Select item 1273188	NM_000352.6(ABCC8):c.2391-189C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225865	NM_000352.6(ABCC8):c.2292-114C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223219	NM_000352.6(ABCC8):c.2292-149G>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221520	NM_000352.6(ABCC8):c.2291+225TTTTCTT[3]	ABCC8, LOC110121471	Microsatellite (intron variant)	not provided	GBenign
Select item 1215881	NM_000352.6(ABCC8):c.2291+299del	ABCC8, LOC110121471	Deletion (intron variant)	not provided	GLikely benign
Select item 1201061	NM_000352.6(ABCC8):c.2390+181T>C	LOC110121471, ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195809	NM_000352.6(ABCC8):c.2391-140G>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188359	NM_000352.6(ABCC8):c.2390+17G>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	Diabetes mellitus, transient neonatal, 2 +5 more	GBenign/Likely benign
Select item 1188041	NM_000352.6(ABCC8):c.2390+187_2390+206del	ABCC8, LOC110121471	Deletion (intron variant)	not provided	GLikely benign
Select item 1179557	NM_000352.6(ABCC8):c.2475+146T>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178017	NM_000352.6(ABCC8):c.2291+283T>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1165583	NM_000352.6(ABCC8):c.2292-36C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1159081	NM_000352.6(ABCC8):c.2382C>T (p.Asn794=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1152010	NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1144538	NM_000352.6(ABCC8):c.2391-8C>A	LOC110121471, ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143221	NM_000352.6(ABCC8):c.2391-9C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1130363	NM_000352.6(ABCC8):c.2390+7G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128416	NM_000352.6(ABCC8):c.2451A>G (p.Gly817=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1124011	NM_000352.6(ABCC8):c.2412C>T (p.Ala804=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1121151	NM_000352.6(ABCC8):c.2390+8C>G	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112089	NM_000352.6(ABCC8):c.2418T>C (p.Ser806=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1100107	NM_000352.6(ABCC8):c.2301C>A (p.Gly767=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1094216	NM_000352.6(ABCC8):c.2319G>A (p.Ser773=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1092233	NM_000352.6(ABCC8):c.2403C>A (p.Val801=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086716	NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GLikely benign
Select item 1081601	NM_000352.6(ABCC8):c.2433C>T (p.Ile811=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1078201	NM_000352.6(ABCC8):c.2316T>G (p.Ala772=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1065991	NM_000352.6(ABCC8):c.2475+1G>A	ABCC8, LOC110121471	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 990403	NM_000352.6(ABCC8):c.2391-5G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 870666	NM_000352.6(ABCC8):c.2368G>T (p.Glu790Ter)	LOC110121471, ABCC8 (E812* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 797672	NM_000352.6(ABCC8):c.2391-6C>T	LOC110121471, ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 556366	NM_000352.6(ABCC8):c.2475+19G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 552425	NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)	ABCC8, LOC110121471	Deletion (inframe_indel +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 434054	NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)	ABCC8, LOC110121471 (R767fs +3 more)	Indel (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 303773	NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	ABCC8, LOC110121471 (Q808K +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +3 more	GConflicting classifications of pathogenicity
Select item 255929	NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 157690	NM_000352.6(ABCC8):c.2292-34T>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 9090	NM_000352.6(ABCC8):c.2292-1G>A	ABCC8, LOC110121471	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity

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Items: 96