ACSM5[gene] - ClinVar

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Items: 70

	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 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 147965	GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4	ACSM5, GP2 +5 more	Copy number gain	See cases	GUncertain significance
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 2646280	NM_017888.3(ACSM5):c.165C>T (p.Phe55=)	ACSM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263293	NM_017888.3(ACSM5):c.245A>G (p.Asn82Ser)	ACSM5 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140719	NM_017888.3(ACSM5):c.262A>G (p.Ile88Val)	ACSM5 (I88V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488141	NM_017888.3(ACSM5):c.310A>C (p.Asn104His)	ACSM5 (N104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263298	NM_017888.3(ACSM5):c.340C>T (p.Pro114Ser)	ACSM5 (P114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140725	NM_017888.3(ACSM5):c.404G>A (p.Cys135Tyr)	ACSM5 (C135Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234442	NM_017888.3(ACSM5):c.404G>T (p.Cys135Phe)	ACSM5 (C135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263271	NM_017888.3(ACSM5):c.469C>T (p.Arg157Trp)	ACSM5 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140730	NM_017888.3(ACSM5):c.583A>T (p.Ser195Cys)	ACSM5 (S195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464078	NM_017888.3(ACSM5):c.589C>T (p.Arg197Trp)	ACSM5 (R197W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409109	NM_017888.3(ACSM5):c.622C>T (p.Arg208Trp)	ACSM5 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140740	NM_017888.3(ACSM5):c.638A>C (p.Glu213Ala)	ACSM5 (E213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140745	NM_017888.3(ACSM5):c.742G>A (p.Gly248Arg)	ACSM5 (G248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263772	NM_017888.3(ACSM5):c.760A>G (p.Ser254Gly)	ACSM5 (S254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562812	NM_017888.3(ACSM5):c.763G>A (p.Gly255Arg)	ACSM5 (G255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244185	NM_017888.3(ACSM5):c.769C>T (p.Arg257Trp)	ACSM5 (R257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263304	NM_017888.3(ACSM5):c.796A>G (p.Ile266Val)	ACSM5 (I266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140753	NM_017888.3(ACSM5):c.845T>C (p.Leu282Pro)	ACSM5 (L282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233898	NM_017888.3(ACSM5):c.857G>T (p.Trp286Leu)	ACSM5 (W286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615011	NM_017888.3(ACSM5):c.911T>C (p.Val304Ala)	ACSM5 (V304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465182	NM_017888.3(ACSM5):c.923C>T (p.Thr308Ile)	ACSM5 (T308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218755	NM_017888.3(ACSM5):c.940A>G (p.Ile314Val)	ACSM5 (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140763	NM_017888.3(ACSM5):c.994C>G (p.Leu332Val)	ACSM5 (L332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769418	NM_017888.3(ACSM5):c.1001+10G>A	ACSM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3140659	NM_017888.3(ACSM5):c.1033A>C (p.Thr345Pro)	ACSM5 (T345P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646281	NM_017888.3(ACSM5):c.1059C>T (p.Asp353=)	ACSM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263282	NM_017888.3(ACSM5):c.1060G>A (p.Val354Met)	ACSM5 (V354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140663	NM_017888.3(ACSM5):c.1074G>T (p.Trp358Cys)	ACSM5 (W358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769419	NM_017888.3(ACSM5):c.1079A>G (p.His360Arg)	ACSM5 (H360R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3140664	NM_017888.3(ACSM5):c.1123A>G (p.Thr375Ala)	ACSM5 (T375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684520	NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr)	ACSM5 (K386T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2612840	NM_017888.3(ACSM5):c.1214A>G (p.Asp405Gly)	ACSM5 (D405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546229	NM_017888.3(ACSM5):c.1223G>A (p.Gly408Asp)	ACSM5 (G408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646282	NM_017888.3(ACSM5):c.1259C>T (p.Ala420Val)	ACSM5 (A420V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3140673	NM_017888.3(ACSM5):c.1274C>G (p.Pro425Arg)	ACSM5 (P425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140674	NM_017888.3(ACSM5):c.1336G>A (p.Glu446Lys)	ACSM5 (E446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409498	NM_017888.3(ACSM5):c.1373G>T (p.Arg458Leu)	ACSM5 (R458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356765	NM_017888.3(ACSM5):c.1386T>A (p.Asp462Glu)	ACSM5 (D462E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140690	NM_017888.3(ACSM5):c.1409G>T (p.Arg470Ile)	ACSM5 (R470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290682	NM_017888.3(ACSM5):c.1409G>A (p.Arg470Lys)	ACSM5 (R470K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140694	NM_017888.3(ACSM5):c.1421T>A (p.Val474Glu)	ACSM5 (V474E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140699	NM_017888.3(ACSM5):c.1526T>C (p.Ile509Thr)	ACSM5 (I509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328619	NM_017888.3(ACSM5):c.1532G>T (p.Gly511Val)	ACSM5 (G511V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294873	NM_017888.3(ACSM5):c.1558C>G (p.Leu520Val)	ACSM5 (L520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456783	NM_017888.3(ACSM5):c.1598C>T (p.Thr533Met)	ACSM5 (T533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140711	NM_017888.3(ACSM5):c.1619T>A (p.Val540Glu)	ACSM5 (V540E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140715	NM_017888.3(ACSM5):c.1639T>C (p.Tyr547His)	ACSM5 (Y547H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616335	NM_017888.3(ACSM5):c.1648C>T (p.Pro550Ser)	ACSM5 (P550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263313	NM_017888.3(ACSM5):c.1724A>G (p.Gln575Arg)	ACSM5 (R570G +1 more)	Single nucleotide variant (missense variant)	not specified	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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
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	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394788	GRCh37/hg19 16p12.3(chr16:20363600-20498071)x3	ACSM2A, ACSM5 +2 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +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: 70