ACSM1[gene] - ClinVar

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Items: 63

	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 145632	GRCh38/hg38 16p12.3(chr16:20229045-20627132)x1	ACSM1, ACSM2A +6 more	Copy number loss	See cases	GUncertain significance
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 2569250	NM_001318890.3(ACSM1):c.1709G>A (p.Arg570Gln)	ACSM1 (R570Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335819	NM_001318890.3(ACSM1):c.1691T>C (p.Ile564Thr)	ACSM1 (I564T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140222	NM_001318890.3(ACSM1):c.1664A>G (p.Glu555Gly)	ACSM1 (E555G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624154	NM_001318890.3(ACSM1):c.1631A>G (p.Tyr544Cys)	ACSM1 (Y544C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611479	NM_001318890.3(ACSM1):c.1588A>T (p.Thr530Ser)	ACSM1 (T530S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264142	NM_001318890.3(ACSM1):c.1555C>T (p.Pro519Ser)	ACSM1 (P519S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281262	NM_001318890.3(ACSM1):c.1424C>T (p.Ser475Phe)	ACSM1 (S475F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371887	NM_001318890.3(ACSM1):c.1346A>G (p.Asn449Ser)	ACSM1 (N449S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646284	NM_001318890.3(ACSM1):c.1284C>A (p.Leu428=)	ACSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537798	NM_001318890.3(ACSM1):c.1283T>C (p.Leu428Pro)	ACSM1 (L428P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470376	NM_001318890.3(ACSM1):c.1271G>A (p.Arg424Lys)	ACSM1 (R424K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227032	NM_001318890.3(ACSM1):c.1262A>G (p.Lys421Arg)	ACSM1 (K421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552557	NM_001318890.3(ACSM1):c.1225C>T (p.Pro409Ser)	ACSM1 (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140189	NM_001318890.3(ACSM1):c.1127G>T (p.Cys376Phe)	ACSM1 (C376F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526887	NM_001318890.3(ACSM1):c.1123A>C (p.Ile375Leu)	ACSM1 (I375L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140181	NM_001318890.3(ACSM1):c.1109C>T (p.Ser370Leu)	ACSM1 (S370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140180	NM_001318890.3(ACSM1):c.1061A>T (p.Glu354Val)	ACSM1 (E354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544025	NM_001318890.3(ACSM1):c.1045C>T (p.Pro349Ser)	ACSM1 (P349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286272	NM_001318890.3(ACSM1):c.1043T>C (p.Leu348Ser)	ACSM1 (L348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244738	NM_001318890.3(ACSM1):c.1007C>T (p.Ala336Val)	ACSM1 (A336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591282	NM_001318890.3(ACSM1):c.940T>G (p.Phe314Val)	ACSM1 (F314V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399140	NM_001318890.3(ACSM1):c.937C>A (p.His313Asn)	ACSM1 (H313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484403	NM_001318890.3(ACSM1):c.872T>C (p.Ile291Thr)	ACSM1 (I291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261651	NM_001318890.3(ACSM1):c.829T>A (p.Trp277Arg)	ACSM1 (W277R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255840	NM_001318890.3(ACSM1):c.781G>A (p.Asp261Asn)	ACSM1 (D261N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786939	NM_001318890.3(ACSM1):c.773A>G (p.Lys258Arg)	ACSM1 (K258R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2407933	NM_001318890.3(ACSM1):c.768C>G (p.Ser256Arg)	ACSM1 (S256R)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 815809	GRCh37/hg19 16p12.3(chr16:20488078-20759727)x3	ACSM2B, ACSM2A +2 more	Copy number gain	not provided	GLikely benign
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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442613	GRCh37/hg19 16p12.3(chr16:20515332-20717903)x1	ACSM1, ACSM2B	Copy number loss	See cases	GUncertain significance
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 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
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 63