ACSM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 747986	NM_001318890.3(ACSM1):c.603G>A (p.Ser201=)	ACSM1, ACSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2472570	NM_001318890.3(ACSM1):c.599G>A (p.Arg200Gln)	ACSM1, ACSM3 (R200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140263	NM_001318890.3(ACSM1):c.571C>A (p.His191Asn)	ACSM1, ACSM3 (H191N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300009	NM_001318890.3(ACSM1):c.538C>G (p.Pro180Ala)	ACSM1, ACSM3 (P180A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464463	NM_001318890.3(ACSM1):c.494T>C (p.Ile165Thr)	ACSM1, ACSM3 (I165T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408075	NM_001318890.3(ACSM1):c.446A>T (p.Asp149Val)	ACSM1, ACSM3 (D149V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140250	NM_001318890.3(ACSM1):c.290G>A (p.Arg97His)	ACSM1, ACSM3 (R97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140243	NM_001318890.3(ACSM1):c.287G>A (p.Arg96His)	ACSM1, ACSM3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140239	NM_001318890.3(ACSM1):c.245A>C (p.Asp82Ala)	ACSM1, ACSM3 (D82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776989	NM_001318890.3(ACSM1):c.192+9T>A	ACSM1, ACSM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3140233	NM_001318890.3(ACSM1):c.178G>C (p.Ala60Pro)	ACSM1, ACSM3 (A60P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289157	NM_001318890.3(ACSM1):c.89G>A (p.Arg30Gln)	ACSM1, ACSM3 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525057	NM_001318890.3(ACSM1):c.71C>T (p.Pro24Leu)	ACSM1, ACSM3 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367406	NM_001318890.3(ACSM1):c.19T>C (p.Phe7Leu)	ACSM1, ACSM3 (F7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366631	NM_017736.5(THUMPD1):c.1034C>G (p.Ser345Cys)	ACSM3, THUMPD1 (S345C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487250	NM_017736.5(THUMPD1):c.964A>G (p.Thr322Ala)	ACSM3, THUMPD1 (T322A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177257	NM_017736.5(THUMPD1):c.875C>G (p.Ala292Gly)	ACSM3, THUMPD1 (A292G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067876	NM_017736.5(THUMPD1):c.848A>T (p.Asn283Ile)	ACSM3, THUMPD1 (N283I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech delay and variable ocular anomalies	GUncertain significance
Select item 1333101	NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del)	ACSM3, THUMPD1 (L258del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2390203	NM_017736.5(THUMPD1):c.743G>T (p.Cys248Phe)	ACSM3, THUMPD1 (C248F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460335	NM_017736.5(THUMPD1):c.736G>T (p.Ala246Ser)	ACSM3, THUMPD1 (A246S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333096	NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	ACSM3, THUMPD1 (Q236*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech delay and variable ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 2403105	NM_017736.5(THUMPD1):c.698C>A (p.Thr233Asn)	ACSM3, THUMPD1 (T233N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333102	NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)	ACSM3, THUMPD1 (E212fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 3177255	NM_017736.5(THUMPD1):c.617G>A (p.Ser206Asn)	ACSM3, THUMPD1 (S206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293418	NM_017736.5(THUMPD1):c.511G>C (p.Ala171Pro)	ACSM3, THUMPD1 (A171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333095	NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)	ACSM3, THUMPD1 (S166fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 1333100	NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)	ACSM3, THUMPD1 (P164S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 2544837	NM_017736.5(THUMPD1):c.485T>C (p.Met162Thr)	ACSM3, THUMPD1 (M162T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333099	NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)	ACSM3, THUMPD1 (R157*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 3177254	NM_017736.5(THUMPD1):c.443T>C (p.Met148Thr)	ACSM3, THUMPD1 (M148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333097	NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)	ACSM3, THUMPD1 (L114*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1333098	NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)	ACSM3, THUMPD1 (E102fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2682550	NM_017736.5(THUMPD1):c.290del (p.Ala97fs)	ACSM3, THUMPD1 (A97fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech delay and variable ocular anomalies	GPathogenic
Select item 2358846	NM_017736.5(THUMPD1):c.253C>T (p.Pro85Ser)	ACSM3, THUMPD1 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177253	NM_017736.5(THUMPD1):c.238G>T (p.Asp80Tyr)	ACSM3, THUMPD1 (D80Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543774	NM_017736.5(THUMPD1):c.215T>C (p.Met72Thr)	ACSM3, THUMPD1 (M72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220979	NM_017736.5(THUMPD1):c.197A>G (p.Asn66Ser)	ACSM3, THUMPD1 (N66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539343	NM_017736.5(THUMPD1):c.176A>G (p.Glu59Gly)	ACSM3, LOC130058602 +1 more (E59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308423	NM_017736.5(THUMPD1):c.134G>C (p.Gly45Ala)	ACSM3, LOC130058602 +1 more (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333103	NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser)	ACSM3, LOC130058602 +1 more (G45S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2509899	NM_017736.5(THUMPD1):c.98C>T (p.Ala33Val)	ACSM3, LOC130058603 +1 more (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621627	NM_017736.5(THUMPD1):c.74C>T (p.Ala25Val)	ACSM3, LOC130058603 +1 more (A25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177256	NM_017736.5(THUMPD1):c.73G>A (p.Ala25Thr)	ACSM3, LOC130058603 +1 more (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140492	NM_005622.4(ACSM3):c.11G>T (p.Arg4Leu)	ACSM3 (R4L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140538	NM_005622.4(ACSM3):c.32G>A (p.Arg11His)	ACSM3 (R11H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2646285	NM_005622.4(ACSM3):c.75G>A (p.Val25=)	ACSM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646286	NM_005622.4(ACSM3):c.93T>C (p.Asp31=)	ACSM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140502	NM_005622.4(ACSM3):c.130G>C (p.Glu44Gln)	ACSM3 (E44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516104	NM_005622.4(ACSM3):c.202T>G (p.Trp68Gly)	ACSM3 (W68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375733	NM_005622.4(ACSM3):c.364C>T (p.Arg122Trp)	ACSM3 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348981	NM_005622.4(ACSM3):c.563G>C (p.Cys188Ser)	ACSM3 (C188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321053	NM_005622.4(ACSM3):c.627G>C (p.Lys209Asn)	ACSM3 (K209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462129	NM_005622.4(ACSM3):c.646A>C (p.Ser216Arg)	ACSM3, ERI2 (L303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480887	NM_005622.4(ACSM3):c.699C>G (p.Phe233Leu)	ACSM3, ERI2 (F233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369873	NM_005622.4(ACSM3):c.725C>T (p.Pro242Leu)	ACSM3, ERI2 (P242L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140557	NM_005622.4(ACSM3):c.779G>C (p.Gly260Ala)	ACSM3, ERI2 (G260A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226967	NM_005622.4(ACSM3):c.783G>C (p.Arg261Ser)	ACSM3, ERI2 (R261S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140562	NM_005622.4(ACSM3):c.803C>G (p.Pro268Arg)	ACSM3, ERI2 (P268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301958	NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)	ACSM3, ERI2 (S276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140568	NM_005622.4(ACSM3):c.833C>T (p.Thr278Met)	ACSM3, ERI2 (T278M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026207	NM_005622.4(ACSM3):c.834G>A (p.Thr278=)	ACSM3, ERI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3140570	NM_005622.4(ACSM3):c.857G>T (p.Ser286Ile)	ERI2, ACSM3 (S286I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319655	NM_005622.4(ACSM3):c.871C>T (p.Pro291Ser)	ACSM3, ERI2 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379701	NM_005622.4(ACSM3):c.872C>T (p.Pro291Leu)	ACSM3, ERI2 (P291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140581	NM_005622.4(ACSM3):c.884G>A (p.Gly295Glu)	ACSM3, ERI2 (G295E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140584	NM_005622.4(ACSM3):c.956C>T (p.Pro319Leu)	ACSM3, ERI2 (P319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247648	NM_005622.4(ACSM3):c.988T>C (p.Tyr330His)	ACSM3, ERI2 (Y330H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537351	NM_005622.4(ACSM3):c.1109T>C (p.Leu370Pro)	ACSM3, ERI2 (L370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324723	NM_005622.4(ACSM3):c.1154G>C (p.Cys385Ser)	ACSM3, ERI2 (C385S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348798	NM_005622.4(ACSM3):c.1162T>G (p.Phe388Val)	ACSM3, ERI2 (F388V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517691	NM_005622.4(ACSM3):c.1202C>T (p.Pro401Leu)	ACSM3, ERI2 (P401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322831	NM_005622.4(ACSM3):c.1298G>A (p.Arg433Gln)	ACSM3, ERI2 (R433Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550952	NM_005622.4(ACSM3):c.1324G>A (p.Val442Ile)	ACSM3, ERI2 (V442I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326957	NM_005622.4(ACSM3):c.1330A>C (p.Asn444His)	ACSM3, ERI2 (N444H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140508	NM_005622.4(ACSM3):c.1370A>G (p.Tyr457Cys)	ACSM3, ERI2 (Y457C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465480	NM_005622.4(ACSM3):c.1466G>T (p.Gly489Val)	ACSM3, ERI2 (G489V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532200	NM_005622.4(ACSM3):c.1478T>C (p.Val493Ala)	ACSM3, ERI2 (V493A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321772	NM_005622.4(ACSM3):c.1573G>A (p.Val525Ile)	ACSM3, ERI2 (V525I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2622477	NM_005622.4(ACSM3):c.1667C>A (p.Pro556His)	ACSM3, ERI2 (P556H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552875	NM_005622.4(ACSM3):c.1708A>G (p.Ser570Gly)	ACSM3, ERI2 (S570G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140530	NM_005622.4(ACSM3):c.1742A>C (p.Lys581Thr)	ACSM3, ERI2 (K581T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1808385	GRCh37/hg19 16p12.3(chr16:20631242-20784335)x1	ACSM1, ACSM3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	SPNS1, SULT1A1 +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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