GCN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 3099088	NM_006836.2(GCN1):c.7979A>T (p.Asp2660Val)	GCN1 (D2660V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528625	NM_006836.2(GCN1):c.7976C>T (p.Ala2659Val)	GCN1 (A2659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217262	NM_006836.2(GCN1):c.7949G>A (p.Arg2650Lys)	GCN1 (R2650K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099087	NM_006836.2(GCN1):c.7946G>A (p.Arg2649Gln)	GCN1 (R2649Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409454	NM_006836.2(GCN1):c.7866G>A (p.Met2622Ile)	GCN1 (M2622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509604	NM_006836.2(GCN1):c.7853A>G (p.Asn2618Ser)	GCN1 (N2618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099085	NM_006836.2(GCN1):c.7837G>A (p.Asp2613Asn)	GCN1 (D2613N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495080	NM_006836.2(GCN1):c.7802C>T (p.Thr2601Ile)	GCN1 (T2601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643394	NM_006836.2(GCN1):c.7653T>C (p.Leu2551=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099084	NM_006836.2(GCN1):c.7643C>T (p.Pro2548Leu)	GCN1 (P2548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622329	NM_006836.2(GCN1):c.7567C>T (p.Pro2523Ser)	GCN1 (P2523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334981	NM_006836.2(GCN1):c.7556C>T (p.Ala2519Val)	GCN1 (A2519V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529807	NM_006836.2(GCN1):c.7508G>A (p.Gly2503Asp)	GCN1 (G2503D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457237	NM_006836.2(GCN1):c.7507G>A (p.Gly2503Ser)	GCN1 (G2503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240501	NM_006836.2(GCN1):c.7486G>T (p.Ala2496Ser)	GCN1 (A2496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099080	NM_006836.2(GCN1):c.7471G>A (p.Val2491Met)	GCN1 (V2491M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230602	NM_006836.2(GCN1):c.7430T>C (p.Ile2477Thr)	GCN1 (I2477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275007	NM_006836.2(GCN1):c.7410G>T (p.Leu2470Phe)	GCN1 (L2470F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099079	NM_006836.2(GCN1):c.7169A>G (p.Asn2390Ser)	GCN1 (N2390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099077	NM_006836.2(GCN1):c.7082G>T (p.Arg2361Leu)	GCN1 (R2361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275886	NM_006836.2(GCN1):c.6982G>A (p.Glu2328Lys)	GCN1 (E2328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745329	NM_006836.2(GCN1):c.6972G>A (p.Ala2324=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568849	NM_006836.2(GCN1):c.6971C>T (p.Ala2324Val)	GCN1 (A2324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327129	NM_006836.2(GCN1):c.6907G>A (p.Val2303Met)	GCN1 (V2303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208137	NM_006836.2(GCN1):c.6754C>G (p.Pro2252Ala)	GCN1 (P2252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252742	NM_006836.2(GCN1):c.6707A>C (p.His2236Pro)	GCN1 (H2236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099076	NM_006836.2(GCN1):c.6633G>C (p.Glu2211Asp)	GCN1 (E2211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712125	NM_006836.2(GCN1):c.6612C>T (p.Ser2204=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3099075	NM_006836.2(GCN1):c.6589C>G (p.Leu2197Val)	GCN1 (L2197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310134	NM_006836.2(GCN1):c.6523C>T (p.Leu2175Phe)	GCN1 (L2175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254510	NM_006836.2(GCN1):c.6481C>T (p.Arg2161Cys)	GCN1 (R2161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297383	NM_006836.2(GCN1):c.6436G>A (p.Asp2146Asn)	GCN1 (D2146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349578	NM_006836.2(GCN1):c.6274C>T (p.Arg2092Trp)	GCN1 (R2092W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317146	NM_006836.2(GCN1):c.6226G>A (p.Val2076Met)	GCN1 (V2076M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768592	NM_006836.2(GCN1):c.6157-8C>G	GCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2274445	NM_006836.2(GCN1):c.6106A>G (p.Ile2036Val)	GCN1 (I2036V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672525	NM_006836.2(GCN1):c.6046G>T (p.Asp2016Tyr)	GCN1 (D2016Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734930	NM_006836.2(GCN1):c.6018C>T (p.Leu2006=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2522215	NM_006836.2(GCN1):c.5986C>T (p.Arg1996Trp)	GCN1 (R1996W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776756	NM_006836.2(GCN1):c.5817A>G (p.Ala1939=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252118	NM_006836.2(GCN1):c.5816C>G (p.Ala1939Gly)	GCN1 (A1939G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099074	NM_006836.2(GCN1):c.5767C>A (p.Leu1923Ile)	GCN1 (L1923I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099073	NM_006836.2(GCN1):c.5749C>T (p.Arg1917Cys)	GCN1 (R1917C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099072	NM_006836.2(GCN1):c.5731G>A (p.Val1911Ile)	GCN1 (V1911I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276882	NM_006836.2(GCN1):c.5708C>T (p.Ala1903Val)	GCN1 (A1903V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257058	NM_006836.2(GCN1):c.5678G>A (p.Arg1893His)	GCN1 (R1893H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613301	NM_006836.2(GCN1):c.5419A>G (p.Met1807Val)	GCN1 (M1807V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326874	NM_006836.2(GCN1):c.5408G>A (p.Arg1803Gln)	GCN1 (R1803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099071	NM_006836.2(GCN1):c.5251C>T (p.His1751Tyr)	GCN1 (H1751Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099070	NM_006836.2(GCN1):c.5106G>C (p.Glu1702Asp)	GCN1 (E1702D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099069	NM_006836.2(GCN1):c.4940A>G (p.Asp1647Gly)	GCN1 (D1647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099068	NM_006836.2(GCN1):c.4900A>T (p.Met1634Leu)	GCN1 (M1634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643395	NM_006836.2(GCN1):c.4893G>A (p.Thr1631=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099067	NM_006836.2(GCN1):c.4669G>T (p.Ala1557Ser)	GCN1 (A1557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320136	NM_006836.2(GCN1):c.4585C>T (p.Pro1529Ser)	GCN1 (P1529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532926	NM_006836.2(GCN1):c.4529C>T (p.Ser1510Leu)	GCN1 (S1510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361561	NM_006836.2(GCN1):c.4483G>T (p.Val1495Leu)	GCN1 (V1495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486362	NM_006836.2(GCN1):c.4427G>T (p.Arg1476Leu)	GCN1 (R1476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544447	NM_006836.2(GCN1):c.4297C>T (p.Arg1433Cys)	GCN1 (R1433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306295	NM_006836.2(GCN1):c.4256T>C (p.Met1419Thr)	GCN1 (M1419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538284	NM_006836.2(GCN1):c.4252A>C (p.Met1418Leu)	GCN1 (M1418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208336	NM_006836.2(GCN1):c.4180C>T (p.Arg1394Cys)	GCN1 (R1394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609021	NM_006836.2(GCN1):c.4124G>C (p.Gly1375Ala)	GCN1 (G1375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610760	NM_006836.2(GCN1):c.4108A>G (p.Ile1370Val)	GCN1 (I1370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302935	NM_006836.2(GCN1):c.4060C>A (p.Gln1354Lys)	GCN1 (Q1354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216172	NM_006836.2(GCN1):c.3923A>G (p.Asn1308Ser)	GCN1 (N1308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249575	NM_006836.2(GCN1):c.3878A>G (p.Asn1293Ser)	GCN1 (N1293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610171	NM_006836.2(GCN1):c.3635C>T (p.Pro1212Leu)	GCN1 (P1212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339308	NM_006836.2(GCN1):c.3593T>C (p.Met1198Thr)	GCN1 (M1198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692308	NM_006836.2(GCN1):c.3581C>A (p.Ala1194Glu)	GCN1 (A1194E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 2355160	NM_006836.2(GCN1):c.3565C>T (p.Arg1189Cys)	GCN1 (R1189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347807	NM_006836.2(GCN1):c.3541G>A (p.Glu1181Lys)	GCN1 (E1181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099062	NM_006836.2(GCN1):c.3518C>T (p.Ala1173Val)	GCN1 (A1173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309075	NM_006836.2(GCN1):c.3463G>C (p.Asp1155His)	GCN1 (D1155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550277	NM_006836.2(GCN1):c.3169G>A (p.Val1057Ile)	GCN1 (V1057I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536959	NM_006836.2(GCN1):c.3118A>T (p.Met1040Leu)	GCN1 (M1040L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099061	NM_006836.2(GCN1):c.3068C>G (p.Pro1023Arg)	GCN1 (P1023R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551494	NM_006836.2(GCN1):c.2993A>G (p.Glu998Gly)	GCN1 (E998G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099060	NM_006836.2(GCN1):c.2980C>T (p.His994Tyr)	GCN1 (H994Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342320	NM_006836.2(GCN1):c.2969C>T (p.Thr990Met)	GCN1 (T990M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551229	NM_006836.2(GCN1):c.2912C>T (p.Ala971Val)	GCN1 (A971V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722612	NM_006836.2(GCN1):c.2832G>A (p.Ser944=)	GCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2550315	NM_006836.2(GCN1):c.2684C>G (p.Pro895Arg)	GCN1 (P895R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252795	NM_006836.2(GCN1):c.2629A>C (p.Ile877Leu)	GCN1 (I877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356321	NM_006836.2(GCN1):c.2573C>T (p.Ala858Val)	GCN1 (A858V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099059	NM_006836.2(GCN1):c.2510A>G (p.Gln837Arg)	GCN1 (Q837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731458	NM_006836.2(GCN1):c.2436+10C>T	GCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2227117	NM_006836.2(GCN1):c.2357G>A (p.Ser786Asn)	GCN1 (S786N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207643	NM_006836.2(GCN1):c.2356A>G (p.Ser786Gly)	GCN1 (S786G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099058	NM_006836.2(GCN1):c.2278C>T (p.Arg760Trp)	GCN1 (R760W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099057	NM_006836.2(GCN1):c.2266C>T (p.Arg756Cys)	GCN1 (R756C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278092	NM_006836.2(GCN1):c.2248G>A (p.Val750Met)	GCN1 (V750M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321490	NM_006836.2(GCN1):c.2212G>T (p.Val738Phe)	GCN1 (V738F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099056	NM_006836.2(GCN1):c.2210G>T (p.Arg737Leu)	GCN1 (R737L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099055	NM_006836.2(GCN1):c.2210G>A (p.Arg737Gln)	GCN1 (R737Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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