ClinVar for MedGen (Select 41523) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064083	NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)	SLC30A8 (Q149* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GUncertain significance
Select item 3024553	NM_000458.4(HNF1B):c.*100del	HNF1B	Deletion (3 prime UTR variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2953395	NM_001626.6(AKT2):c.1311G>A (p.Arg437=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2950331	NM_001626.6(AKT2):c.1366+19C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2949360	NM_001626.6(AKT2):c.597C>T (p.Thr199=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 2946586	NM_001626.6(AKT2):c.582C>T (p.Val194=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2944308	NM_001626.6(AKT2):c.380C>T (p.Pro127Leu)	AKT2 (P127L +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2942455	NM_001626.6(AKT2):c.327C>T (p.Ser109=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940916	NM_001626.6(AKT2):c.1125C>T (p.Pro375=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940438	NM_001626.6(AKT2):c.1264-4G>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940072	NM_001626.6(AKT2):c.288-14G>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2939093	NM_001626.6(AKT2):c.574-16C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2938255	NM_001626.6(AKT2):c.46+20C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2937939	NM_001626.6(AKT2):c.990C>T (p.Ala330=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2935896	NM_001626.6(AKT2):c.527G>T (p.Arg176Leu)	AKT2 (R176L +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2934793	NM_001626.6(AKT2):c.640-20C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2931125	NM_001626.6(AKT2):c.708+8G>A	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 2926089	NM_001626.6(AKT2):c.822C>G (p.Arg274=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2925323	NM_001626.6(AKT2):c.283G>A (p.Glu95Lys)	AKT2 (E95K +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2924811	NM_001626.6(AKT2):c.387C>T (p.Asp129=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2924223	NM_001626.6(AKT2):c.792G>A (p.Glu264=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2924222	NM_001626.6(AKT2):c.576T>G (p.Asp192Glu)	AKT2 (D130E +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2923403	NM_001626.6(AKT2):c.709-14C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
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 2678897	NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)	ABCC8 (Y637* +1 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely 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 2678780	NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)	ABCC8 (M1393R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2678076	NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)	ABCC8 (N32K)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GPathogenic
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 2677454	NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)	ABCC8 (Q832* +3 more)	Single nucleotide variant (nonsense +1 more)	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 2677316	NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)	ABCC8 (P1412L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
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 2676601	NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)	ABCC8 (S1275fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2676211	NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)	KCNJ11 (C166fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676210	NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)	KCNJ11 (E195* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676209	NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)	KCNJ11 (S244fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676208	NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)	KCNJ11 (W3* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676207	NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)	KCNJ11 (S186fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676206	NM_000525.4(KCNJ11):c.399del (p.Phe133fs)	KCNJ11 (F133fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676205	NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)	KCNJ11 (A96T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676204	NM_000525.4(KCNJ11):c.639del (p.Thr214fs)	KCNJ11 (T127fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676203	NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)	KCNJ11 (K245fs +1 more)	Duplication (frameshift variant)	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 2665083	NM_005456.4(MAPK8IP1):c.1666+5T>C	MAPK8IP1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2630405	NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)	KCNJ11 (A126T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 2585372	NM_000352.6(ABCC8):c.4016C>A (p.Pro1339Gln)	ABCC8 (P1338Q +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GUncertain significance
Select item 2584633	NM_000236.3(LIPC):c.88+8C>A	LIPC	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2584620	NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)	KCNJ11 (P21T)	Single nucleotide variant (missense variant +2 more)	Diabetes mellitus type 1 +3 more	GUncertain significance
Select item 2584566	NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)	PAX4	Deletion (inframe_deletion)	Diabetes mellitus, ketosis-prone +2 more	GUncertain significance
Select item 2581150	NM_017774.3(CDKAL1):c.1241del (p.Lys414fs)	CDKAL1 (K414fs)	Deletion (frameshift variant)	Type 2 diabetes mellitus	Gnot provided
Select item 2576205	NM_000352.6(ABCC8):c.3163-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +1 more	GPathogenic
Select item 2576202	NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	ABCC8 (L1146R +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 2576198	NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)	ABCC8 (P1358L +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 2576195	NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	ABCC8 (R1419H +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely pathogenic
Select item 2502275	NM_000162.5(GCK):c.360G>C (p.Glu120Asp)	GCK (E119D +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2502270	NM_000236.3(LIPC):c.274-5C>T	LIPC	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2502241	NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)	LIPC (R344Q)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502235	NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)	LIPC (G118E)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502226	NM_001366110.1(PAX4):c.779dup (p.Gly261fs)	PAX4 (G261fs)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 9 +1 more	GUncertain significance
Select item 2502224	NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)	LIPC (A126D)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502223	NM_000458.4(HNF1B):c.11A>G (p.Lys4Arg)	HNF1B (K4R)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2502204	NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)	LIPC (V342I)	Single nucleotide variant (missense variant)	Hyperlipidemia due to hepatic triglyceride lipase deficiency +2 more	GUncertain significance
Select item 2502186	NM_175914.5(HNF4A):c.50-4589G>A	HNF4A (V33M)	Single nucleotide variant (missense variant +2 more)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 2502166	NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)	PAX4 (V152I)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +1 more	GUncertain significance
Select item 2500233	NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)	GCK (M40fs +2 more)	Insertion (frameshift variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GLikely pathogenic
Select item 2500039	NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)	GCK (D77Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 2441736	NM_000162.5(GCK):c.692A>T (p.Asn231Ile)	GCK (N230I +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 2438958	NM_001626.6(AKT2):c.831+4A>G	AKT2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2419815	NM_001626.6(AKT2):c.709-11T>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2419701	NM_001626.6(AKT2):c.1040G>A (p.Arg347His)	AKT2 (R285H +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance

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