Related gene-specific medical variations for Gene (Select 6833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370289	NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)	ABCC8 (R835Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3362451	NM_000352.6(ABCC8):c.1844C>G (p.Ser615Cys)	ABCC8 (S614C +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 3360486	NM_000352.6(ABCC8):c.3380A>C (p.Asp1127Ala)	ABCC8 (D1126A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359937	NM_000352.6(ABCC8):c.1448A>G (p.Gln483Arg)	ABCC8 (Q482R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253423	NM_000352.6(ABCC8):c.2474G>A (p.Arg825Gln)	ABCC8, LOC110121471 (R824Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252445	NM_000352.6(ABCC8):c.2332C>A (p.Leu778Met)	ABCC8, LOC110121471 (L777M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251923	NM_000352.6(ABCC8):c.2368G>C (p.Glu790Gln)	ABCC8, LOC110121471 (E789Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244727	NC_000011.9:g.(?_17496907)_(17498208_?)del	ABCC8	Deletion	not provided	GLikely pathogenic
Select item 3244726	NC_000011.9:g.(?_17426039)_(17430084_?)del	ABCC8	Deletion	not provided	GPathogenic
Select item 3244725	NC_000011.9:g.(?_17416699)_(17416842_?)del	ABCC8	Deletion	not provided	GPathogenic
Select item 3241920	NM_000352.6(ABCC8):c.4549_4550del (p.Asn1517fs)	ABCC8 (N1516fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241877	NM_000352.6(ABCC8):c.864G>A (p.Trp288Ter)	ABCC8 (W287* +1 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241777	NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)	ABCC8, LOC110121471 (E823* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 3241710	NM_000352.6(ABCC8):c.580-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241628	NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)	ABCC8 (S1150* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241413	NM_000352.6(ABCC8):c.2256-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240020	NM_000352.6(ABCC8):c.2791_2792del (p.Met931fs)	ABCC8 (M930fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240007	NM_000352.6(ABCC8):c.585C>A (p.Tyr195Ter)	ABCC8 (Y195*)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240002	NM_000352.6(ABCC8):c.4119+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239911	NM_000352.6(ABCC8):c.131dup (p.Ile46fs)	ABCC8 (I46fs)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239837	NM_000352.6(ABCC8):c.3007dup (p.Tyr1003fs)	ABCC8 (Y1002fs +3 more)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239828	NM_000352.6(ABCC8):c.2806C>T (p.Gln936Ter)	ABCC8 (Q935* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 3239757	NM_000352.6(ABCC8):c.2760_2770del (p.Glu920fs)	ABCC8 (E919fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239749	NM_000352.6(ABCC8):c.984del (p.Lys329fs)	ABCC8 (K328fs +1 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
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 3065098	NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)	ABCC8 (G1432R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	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 (missense 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 2690805	NM_000352.6(ABCC8):c.553G>A (p.Val185Met)	ABCC8 (V185M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2679008	NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)	ABCC8 (Q713* +2 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678995	NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT	ABCC8	Indel (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678915	NM_000352.6(ABCC8):c.149-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678855	NM_000352.6(ABCC8):c.836_852dup (p.Ile287fs)	ABCC8 (I286fs +1 more)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2678807	NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)	ABCC8 (Y891* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678632	NM_000352.6(ABCC8):c.1813del (p.Leu604_Val605insTer)	ABCC8	Deletion (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678581	NM_000352.6(ABCC8):c.4412-2A>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678521	NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)	ABCC8 (R194*)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678490	NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)	ABCC8 (I1313fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678380	NM_000352.6(ABCC8):c.3162+2T>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2678241	NM_000352.6(ABCC8):c.160C>T (p.Gln54Ter)	ABCC8 (Q54*)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2678207	NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)	ABCC8 (N1268fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
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 2677934	NM_000352.6(ABCC8):c.857_859delinsGCAT (p.Ala286fs)	ABCC8 (A285fs +1 more)	Indel (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677918	NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)	ABCC8 (L1100fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677865	NM_000352.6(ABCC8):c.2040+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677767	NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)	ABCC8 (F1111fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677467	NM_000352.6(ABCC8):c.2557-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677432	NM_000352.6(ABCC8):c.4414G>A (p.Ala1472Thr)	ABCC8 (A1471T +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2677414	NM_000352.6(ABCC8):c.4545+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677374	NM_000352.6(ABCC8):c.3329+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2677217	NM_000352.6(ABCC8):c.290+2del	ABCC8	Deletion (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676995	NM_000352.6(ABCC8):c.3329+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GPathogenic
Select item 2676857	NM_000352.6(ABCC8):c.1289G>A (p.Trp430Ter)	ABCC8 (W429* +1 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2676820	NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)	ABCC8 (P1330fs +3 more)	Insertion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676810	NM_000352.6(ABCC8):c.945del (p.Pro317fs)	ABCC8 (P316fs +1 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2676590	NM_000352.6(ABCC8):c.619_629del (p.Pro207fs)	ABCC8 (P207fs)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2676532	NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)	ABCC8 (L884* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676438	NM_000352.6(ABCC8):c.1817+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676391	NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)	ABCC8 (C1077fs +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 2675844	NM_000352.6(ABCC8):c.3330-1G>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2675358	NM_000352.6(ABCC8):c.1822C>T (p.Gln608Ter)	ABCC8 (Q607* +1 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 2675201	NM_000352.6(ABCC8):c.1817+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GPathogenic
Select item 2665044	NM_000352.6(ABCC8):c.1672-473T>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2584636	NM_000352.6(ABCC8):c.1468-52G>A	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
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 2502243	NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)	ABCC8 (H894L +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502242	NM_000352.6(ABCC8):c.1012-7C>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502222	NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)	ABCC8 (Y637S +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502195	NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)	ABCC8 (T523M +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502193	NM_000352.6(ABCC8):c.1332+3A>G	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502189	NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)	ABCC8 (A1309S +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502187	NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)	ABCC8 (R701H +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2502170	NM_000352.6(ABCC8):c.421G>A (p.Val141Met)	ABCC8 (V141M)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 2501665	NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)	ABCC8 (L1042fs +3 more)	Indel (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 2438743	NM_000352.6(ABCC8):c.3408A>G (p.Pro1136=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2438742	NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)	ABCC8 (E1557D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438741	NM_000352.6(ABCC8):c.1468-48G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438740	NM_000352.6(ABCC8):c.2725A>T (p.Arg909Trp)	ABCC8 (R908W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438739	NM_000352.6(ABCC8):c.1363A>G (p.Ile455Val)	ABCC8 (I454V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided	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

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