ClinVar for Gene (Select 94160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298753	NM_001393797.1(ABCC12):c.3539T>C (p.Ile1180Thr)	ABCC12 (I1180T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298649	NM_001393797.1(ABCC12):c.1319C>T (p.Thr440Ile)	ABCC12 (T440I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298618	NM_001393797.1(ABCC12):c.3976G>A (p.Val1326Ile)	ABCC12 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298543	NM_001393797.1(ABCC12):c.7G>A (p.Gly3Ser)	ABCC12 (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298442	NM_001393797.1(ABCC12):c.3151A>G (p.Ile1051Val)	ABCC12 (I1051V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298355	NM_001393797.1(ABCC12):c.905T>G (p.Met302Arg)	ABCC12 (M302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298251	NM_001393797.1(ABCC12):c.2488C>T (p.Pro830Ser)	ABCC12 (P830S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298150	NM_001393797.1(ABCC12):c.3806G>A (p.Arg1269Gln)	ABCC12 (R143Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298087	NM_001393797.1(ABCC12):c.1616T>G (p.Val539Gly)	ABCC12 (V539G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298009	NM_001393797.1(ABCC12):c.517G>A (p.Glu173Lys)	ABCC12 (E173K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297915	NM_001393797.1(ABCC12):c.254C>T (p.Ser85Leu)	ABCC12 (S85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297820	NM_001393797.1(ABCC12):c.367G>A (p.Val123Met)	ABCC12 (V123M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297726	NM_001393797.1(ABCC12):c.1769A>G (p.Tyr590Cys)	ABCC12 (Y590C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297642	NM_001393797.1(ABCC12):c.1909G>A (p.Val637Met)	ABCC12 (V637M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297523	NM_001393797.1(ABCC12):c.52C>T (p.Arg18Trp)	ABCC12 (R18W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127885	NM_001393797.1(ABCC12):c.982A>G (p.Ile328Val)	ABCC12 (I328V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127882	NM_001393797.1(ABCC12):c.889A>G (p.Lys297Glu)	ABCC12 (K297E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127875	NM_001393797.1(ABCC12):c.772A>T (p.Ile258Phe)	ABCC12 (I258F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127871	NM_001393797.1(ABCC12):c.703G>A (p.Ala235Thr)	ABCC12 (A235T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127849	NM_001393797.1(ABCC12):c.3934G>A (p.Ala1312Thr)	ABCC12 (A1312T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127840	NM_001393797.1(ABCC12):c.3839T>G (p.Leu1280Arg)	ABCC12 (L123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127821	NM_001393797.1(ABCC12):c.3547G>A (p.Val1183Met)	ABCC12 (V57M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127816	NM_001393797.1(ABCC12):c.3532A>G (p.Ile1178Val)	ABCC12 (I52V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127812	NM_001393797.1(ABCC12):c.340G>A (p.Val114Met)	ABCC12 (V114M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127786	NM_001393797.1(ABCC12):c.3083G>T (p.Arg1028Ile)	ABCC12 (R1028I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127779	NM_001393797.1(ABCC12):c.2950C>T (p.Arg984Trp)	ABCC12, LOC130058951 (R984W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127764	NM_001393797.1(ABCC12):c.2689A>G (p.Met897Val)	ABCC12 (M897V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127754	NM_001393797.1(ABCC12):c.2466G>T (p.Lys822Asn)	ABCC12 (K822N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127752	NM_001393797.1(ABCC12):c.2425G>A (p.Ala809Thr)	ABCC12 (A809T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127742	NM_001393797.1(ABCC12):c.2293C>A (p.Gln765Lys)	ABCC12 (Q765K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127739	NM_001393797.1(ABCC12):c.2218C>T (p.Pro740Ser)	ABCC12 (P740S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127731	NM_001393797.1(ABCC12):c.1831A>T (p.Ile611Phe)	ABCC12 (I611F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127722	NM_001393797.1(ABCC12):c.1736G>T (p.Cys579Phe)	ABCC12 (C579F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127717	NM_001393797.1(ABCC12):c.1709A>G (p.Gln570Arg)	ABCC12 (Q570R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127716	NM_001393797.1(ABCC12):c.1709A>C (p.Gln570Pro)	ABCC12 (Q570P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127686	NM_001393797.1(ABCC12):c.1126G>A (p.Val376Met)	ABCC12 (V376M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672634	NM_001393797.1(ABCC12):c.2549T>C (p.Val850Ala)	ABCC12 (V850A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2646497	NM_001393797.1(ABCC12):c.366C>T (p.Arg122=)	ABCC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646496	NM_001393797.1(ABCC12):c.2979C>T (p.Ser993=)	ABCC12, LOC130058951	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646495	NM_001393797.1(ABCC12):c.3110C>A (p.Thr1037Asn)	ABCC12 (T1037N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646494	NM_001393797.1(ABCC12):c.3237G>A (p.Glu1079=)	ABCC12	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2646493	NM_001393797.1(ABCC12):c.3238A>G (p.Thr1080Ala)	ABCC12 (T1080A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2623220	NM_001393797.1(ABCC12):c.1856C>T (p.Ser619Phe)	ABCC12 (S619F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617532	NM_001393797.1(ABCC12):c.2879T>C (p.Val960Ala)	ABCC12 (V960A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615080	NM_001393797.1(ABCC12):c.1376A>G (p.Gln459Arg)	ABCC12 (Q459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608541	NM_001393797.1(ABCC12):c.2091A>T (p.Lys697Asn)	ABCC12 (K697N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606599	NM_001393797.1(ABCC12):c.2204T>C (p.Ile735Thr)	ABCC12 (I735T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601891	NM_001393797.1(ABCC12):c.2062T>G (p.Leu688Val)	ABCC12 (L688V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599667	NM_001393797.1(ABCC12):c.19T>C (p.Tyr7His)	ABCC12 (Y7H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593520	NM_001393797.1(ABCC12):c.1286A>G (p.Asp429Gly)	ABCC12 (D429G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588737	NM_001393797.1(ABCC12):c.659T>C (p.Val220Ala)	ABCC12 (V220A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552691	NM_001393797.1(ABCC12):c.72A>T (p.Arg24Ser)	ABCC12 (R24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549971	NM_001393797.1(ABCC12):c.1252A>G (p.Lys418Glu)	ABCC12 (K418E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549375	NM_001393797.1(ABCC12):c.4036G>C (p.Asp1346His)	ABCC12 (D1346H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548169	NM_001393797.1(ABCC12):c.1604G>A (p.Gly535Glu)	ABCC12 (G535E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528764	NM_001393797.1(ABCC12):c.728C>A (p.Thr243Asn)	ABCC12 (T243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520018	NM_001393797.1(ABCC12):c.3761G>A (p.Gly1254Glu)	ABCC12 (G128E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519968	NM_001393797.1(ABCC12):c.3224G>C (p.Arg1075Pro)	ABCC12 (R1075P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491893	NM_001393797.1(ABCC12):c.38A>T (p.Asp13Val)	ABCC12 (D13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485153	NM_001393797.1(ABCC12):c.2015T>C (p.Ile672Thr)	ABCC12 (I672T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484988	NM_001393797.1(ABCC12):c.1574C>G (p.Ala525Gly)	ABCC12 (A525G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481109	NM_001393797.1(ABCC12):c.3227C>G (p.Thr1076Arg)	ABCC12 (T1076R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480754	NM_001393797.1(ABCC12):c.4013C>G (p.Pro1338Arg)	ABCC12 (P212R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475552	NM_001393797.1(ABCC12):c.3940C>A (p.Arg1314Ser)	ABCC12 (R157S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472205	NM_001393797.1(ABCC12):c.3757A>C (p.Asn1253His)	ABCC12 (N127H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472119	NM_001393797.1(ABCC12):c.3068G>C (p.Arg1023Thr)	ABCC12 (R1023T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471476	NM_001393797.1(ABCC12):c.3295C>T (p.Pro1099Ser)	ABCC12 (P1099S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2422825	NC_000016.9:g.(?_46694384)_(48258199_?)dup	ABCC11, ABCC12 +9 more	Duplication	Glycogen storage disease IXb	GUncertain significance
Select item 2407871	NM_001393797.1(ABCC12):c.3367A>G (p.Arg1123Gly)	ABCC12 (R1123G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406014	NM_001393797.1(ABCC12):c.1149G>A (p.Met383Ile)	ABCC12 (M383I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405079	NM_001393797.1(ABCC12):c.887A>G (p.Asp296Gly)	ABCC12 (D296G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392736	NM_001393797.1(ABCC12):c.2771C>T (p.Pro924Leu)	ABCC12 (P924L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392045	NM_001393797.1(ABCC12):c.2647T>G (p.Ser883Ala)	ABCC12 (S883A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388424	NM_001393797.1(ABCC12):c.2863G>A (p.Val955Met)	ABCC12 (V955M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357463	NM_001393797.1(ABCC12):c.3299A>C (p.Glu1100Ala)	ABCC12 (E1100A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355727	NM_001393797.1(ABCC12):c.1547G>A (p.Gly516Glu)	ABCC12 (G516E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346034	NM_001393797.1(ABCC12):c.248A>C (p.Tyr83Ser)	ABCC12 (Y83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345136	NM_001393797.1(ABCC12):c.3368G>A (p.Arg1123Lys)	ABCC12 (R1123K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2324830	NM_001393797.1(ABCC12):c.3784C>T (p.Arg1262Cys)	ABCC12 (R105C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311489	NM_001393797.1(ABCC12):c.1609G>A (p.Val537Met)	ABCC12 (V537M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308175	NM_001393797.1(ABCC12):c.1729C>T (p.Arg577Cys)	ABCC12 (R577C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305577	NM_001393797.1(ABCC12):c.2618T>C (p.Phe873Ser)	ABCC12 (F873S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303674	NM_001393797.1(ABCC12):c.23T>A (p.Leu8His)	ABCC12 (L8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296108	NM_001393797.1(ABCC12):c.1240A>G (p.Ile414Val)	ABCC12 (I414V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287900	NM_001393797.1(ABCC12):c.2363C>T (p.Ala788Val)	ABCC12 (A788V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283314	NM_001393797.1(ABCC12):c.3610C>T (p.Pro1204Ser)	ABCC12 (P78S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267007	NM_001393797.1(ABCC12):c.173C>T (p.Ser58Phe)	ABCC12 (S58F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255999	NM_001393797.1(ABCC12):c.3309T>A (p.His1103Gln)	ABCC12 (H1103Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237360	NM_001393797.1(ABCC12):c.814A>G (p.Ile272Val)	ABCC12 (I272V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227687	NM_001393797.1(ABCC12):c.1787T>C (p.Ile596Thr)	ABCC12 (I596T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224769	NM_001393797.1(ABCC12):c.1168T>C (p.Ser390Pro)	ABCC12 (S390P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221296	NM_001393797.1(ABCC12):c.1795C>T (p.Arg599Trp)	ABCC12 (R599W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217925	NM_001393797.1(ABCC12):c.2842T>C (p.Phe948Leu)	ABCC12 (F948L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 797111	NM_001393797.1(ABCC12):c.1845C>T (p.Arg615=)	ABCC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784623	NM_001393797.1(ABCC12):c.2681A>T (p.Lys894Met)	ABCC12 (K894M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781323	NM_001393797.1(ABCC12):c.197_198del (p.Lys66fs)	ABCC12 (K66fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 781322	NM_001393797.1(ABCC12):c.3572A>C (p.Glu1191Ala)	ABCC12 (E1191A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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