AMER3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 148546	GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	AMER3, ARHGEF4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 154209	GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 149080	GRCh38/hg38 2q21.1(chr2:130720159-131196705)x1	AMER3, ARHGEF4 +12 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152346	GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1	AMER3, ARHGEF4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 155407	GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3	AMER3, ARHGEF4 +16 more	Copy number gain	See cases	GLikely benign
Select item 545243	NC_000002.12:g.(?_130725519)_(131168548_?)del	AMER3, ARHGEF4 +12 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 148063	GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1	AMER3, ARHGEF4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 148042	GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	AMER3, ARHGEF4 +24 more	Copy number loss	See cases	GUncertain significance
Select item 144151	GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2339893	NM_152698.3(AMER3):c.14G>C (p.Arg5Thr)	AMER3 (R5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480045	NM_152698.3(AMER3):c.69C>G (p.Asp23Glu)	AMER3 (D23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471259	NM_152698.3(AMER3):c.121C>G (p.Pro41Ala)	AMER3 (P41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539730	NM_152698.3(AMER3):c.148G>A (p.Glu50Lys)	AMER3 (E50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115386	NM_152698.3(AMER3):c.269G>A (p.Arg90Gln)	AMER3 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304424	NM_152698.3(AMER3):c.296C>T (p.Ser99Phe)	AMER3 (S99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278068	NM_152698.3(AMER3):c.299G>C (p.Gly100Ala)	AMER3 (G100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292620	NM_152698.3(AMER3):c.326G>A (p.Gly109Glu)	AMER3 (G109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567904	NM_152698.3(AMER3):c.370C>T (p.Arg124Trp)	AMER3 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241131	NM_152698.3(AMER3):c.373C>T (p.Arg125Cys)	AMER3 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597560	NM_152698.3(AMER3):c.388C>T (p.Arg130Cys)	AMER3 (R130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597334	NM_152698.3(AMER3):c.389G>A (p.Arg130His)	AMER3 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465713	NM_152698.3(AMER3):c.400C>G (p.Pro134Ala)	AMER3 (P134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292651	NM_152698.3(AMER3):c.407T>C (p.Met136Thr)	AMER3 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681228	NM_152698.3(AMER3):c.411C>T (p.Pro137=)	AMER3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2561181	NM_152698.3(AMER3):c.431A>G (p.Lys144Arg)	AMER3 (K144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289161	NM_152698.3(AMER3):c.500G>A (p.Arg167Gln)	AMER3 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406132	NM_152698.3(AMER3):c.509A>C (p.Lys170Thr)	AMER3 (K170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306015	NM_152698.3(AMER3):c.524C>T (p.Ala175Val)	AMER3 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292577	NM_152698.3(AMER3):c.527C>G (p.Ser176Trp)	AMER3 (S176W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214394	NM_152698.3(AMER3):c.535G>A (p.Ala179Thr)	AMER3 (A179T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356292	NM_152698.3(AMER3):c.538G>A (p.Glu180Lys)	AMER3 (E180K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273549	NM_152698.3(AMER3):c.545A>G (p.Lys182Arg)	AMER3 (K182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362206	NM_152698.3(AMER3):c.580G>T (p.Gly194Trp)	AMER3 (G194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366919	NM_152698.3(AMER3):c.587G>A (p.Arg196Gln)	AMER3 (R196Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540739	NM_152698.3(AMER3):c.603C>G (p.Phe201Leu)	AMER3 (F201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371486	NM_152698.3(AMER3):c.611C>T (p.Pro204Leu)	AMER3 (P204L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242403	NM_152698.3(AMER3):c.626G>A (p.Gly209Glu)	AMER3 (G209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292588	NM_152698.3(AMER3):c.647A>C (p.Asp216Ala)	AMER3 (D216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217631	NM_152698.3(AMER3):c.652T>G (p.Leu218Val)	AMER3 (L218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211869	NM_152698.3(AMER3):c.673G>A (p.Asp225Asn)	AMER3 (D225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552220	NM_152698.3(AMER3):c.676G>T (p.Ala226Ser)	AMER3 (A226S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598631	NM_152698.3(AMER3):c.688C>T (p.Leu230Phe)	AMER3 (L230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292570	NM_152698.3(AMER3):c.712G>A (p.Val238Met)	AMER3 (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292641	NM_152698.3(AMER3):c.737C>T (p.Ser246Leu)	AMER3 (S246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292609	NM_152698.3(AMER3):c.787C>G (p.Leu263Val)	AMER3 (L263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292662	NM_152698.3(AMER3):c.815C>T (p.Pro272Leu)	AMER3 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612734	NM_152698.3(AMER3):c.842G>A (p.Ser281Asn)	AMER3 (S281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292673	NM_152698.3(AMER3):c.877G>C (p.Glu293Gln)	AMER3 (E293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279477	NM_152698.3(AMER3):c.920C>T (p.Thr307Ile)	AMER3 (T307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115482	NM_152698.3(AMER3):c.958C>G (p.Gln320Glu)	AMER3 (Q320E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612263	NM_152698.3(AMER3):c.964C>T (p.Arg322Cys)	AMER3 (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356419	NM_152698.3(AMER3):c.1033G>T (p.Ala345Ser)	AMER3 (A345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372842	NM_152698.3(AMER3):c.1045G>C (p.Glu349Gln)	AMER3 (E349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292631	NM_152698.3(AMER3):c.1106C>T (p.Thr369Ile)	AMER3 (T369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308481	NM_152698.3(AMER3):c.1109G>A (p.Gly370Asp)	AMER3 (G370D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215211	NM_152698.3(AMER3):c.1130C>T (p.Pro377Leu)	AMER3 (P377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115282	NM_152698.3(AMER3):c.1238C>T (p.Pro413Leu)	AMER3 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115287	NM_152698.3(AMER3):c.1240C>G (p.Arg414Gly)	AMER3 (R414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115291	NM_152698.3(AMER3):c.1282G>A (p.Asp428Asn)	AMER3 (D428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470426	NM_152698.3(AMER3):c.1364C>T (p.Thr455Met)	AMER3 (T455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115295	NM_152698.3(AMER3):c.1399G>A (p.Glu467Lys)	AMER3 (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533755	NM_152698.3(AMER3):c.1439G>A (p.Ser480Asn)	AMER3 (S480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289026	NM_152698.3(AMER3):c.1498A>T (p.Thr500Ser)	AMER3 (T500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115311	NM_152698.3(AMER3):c.1537C>T (p.Arg513Cys)	AMER3 (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380353	NM_152698.3(AMER3):c.1544G>T (p.Gly515Val)	AMER3 (G515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292599	NM_152698.3(AMER3):c.1556G>A (p.Arg519His)	AMER3 (R519H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115314	NM_152698.3(AMER3):c.1637G>C (p.Gly546Ala)	AMER3 (G546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524977	NM_152698.3(AMER3):c.1649T>C (p.Leu550Pro)	AMER3 (L550P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115319	NM_152698.3(AMER3):c.1669G>A (p.Ala557Thr)	AMER3 (A557T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115324	NM_152698.3(AMER3):c.1735G>A (p.Ala579Thr)	AMER3 (A579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520288	NM_152698.3(AMER3):c.1738G>A (p.Gly580Arg)	AMER3 (G580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292561	NM_152698.3(AMER3):c.1793A>T (p.Asp598Val)	AMER3 (D598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301440	NM_152698.3(AMER3):c.1802G>A (p.Arg601Gln)	AMER3 (R601Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115334	NM_152698.3(AMER3):c.1852T>C (p.Ser618Pro)	AMER3 (S618P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292550	NM_152698.3(AMER3):c.1882G>A (p.Gly628Ser)	AMER3 (G628S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250017	NM_152698.3(AMER3):c.1889A>C (p.Asn630Thr)	AMER3 (N630T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280789	NM_152698.3(AMER3):c.2056A>C (p.Ser686Arg)	AMER3 (S686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482938	NM_152698.3(AMER3):c.2087C>T (p.Pro696Leu)	AMER3 (P696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396527	NM_152698.3(AMER3):c.2108G>A (p.Ser703Asn)	AMER3 (S703N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471630	NM_152698.3(AMER3):c.2126G>A (p.Arg709His)	AMER3 (R709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916554	NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter)	AMER3 (R746*)	Single nucleotide variant (nonsense)	Tracheoesophageal fistula	GLikely pathogenic
Select item 3115357	NM_152698.3(AMER3):c.2281G>A (p.Gly761Arg)	AMER3 (G761R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255318	NM_152698.3(AMER3):c.2290G>A (p.Val764Ile)	AMER3 (V764I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526607	NM_152698.3(AMER3):c.2308G>A (p.Val770Met)	AMER3 (V770M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455882	NM_152698.3(AMER3):c.2340G>C (p.Glu780Asp)	AMER3 (E780D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295852	NM_152698.3(AMER3):c.2362G>A (p.Gly788Ser)	AMER3 (G788S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3292682	NM_152698.3(AMER3):c.2384C>G (p.Pro795Arg)	AMER3 (P795R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621876	NM_152698.3(AMER3):c.2404C>T (p.Arg802Trp)	AMER3 (R802W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335324	NM_152698.3(AMER3):c.2443C>G (p.Leu815Val)	AMER3 (L815V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491016	NM_152698.3(AMER3):c.2467G>A (p.Gly823Arg)	AMER3 (G823R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366745	NM_152698.3(AMER3):c.2468G>C (p.Gly823Ala)	AMER3 (G823A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115380	NM_152698.3(AMER3):c.2471G>C (p.Gly824Ala)	AMER3 (G824A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484726	NM_152698.3(AMER3):c.2498G>A (p.Arg833His)	AMER3 (R833H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236688	NM_152698.3(AMER3):c.2516G>A (p.Arg839His)	AMER3 (R839H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560184	NM_152698.3(AMER3):c.2581C>A (p.Leu861Met)	AMER3 (L861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1808259	GRCh37/hg19 2q21.1(chr2:131452093-132035609)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance

<< First< Prev

Page of 2