ACSM2B[gene] - ClinVar

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Items: 48

	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 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 3140461	NM_001105069.2(ACSM2B):c.1557C>A (p.Asp519Glu)	ACSM2B (D440E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219916	NM_001105069.2(ACSM2B):c.1478T>A (p.Val493Glu)	ACSM2B (V493E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387915	NM_001105069.2(ACSM2B):c.1460C>A (p.Ala487Asp)	ACSM2B (A408D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206336	NM_001105069.2(ACSM2B):c.1382G>A (p.Arg461Gln)	ACSM2B (R461Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348160	NM_001105069.2(ACSM2B):c.1381C>T (p.Arg461Trp)	ACSM2B (R461W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610181	NM_001105069.2(ACSM2B):c.1349A>C (p.Lys450Thr)	ACSM2B (K371T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468381	NM_001105069.2(ACSM2B):c.1298C>T (p.Thr433Ile)	ACSM2B (T354I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334396	NM_001105069.2(ACSM2B):c.1247C>G (p.Pro416Arg)	ACSM2B (P337R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606915	NM_001105069.2(ACSM2B):c.1184T>C (p.Ile395Thr)	ACSM2B (I395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320561	NM_001105069.2(ACSM2B):c.1181T>A (p.Val394Asp)	ACSM2B (V394D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373279	NM_001105069.2(ACSM2B):c.1154C>T (p.Thr385Met)	ACSM2B (T306M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214022	NM_001105069.2(ACSM2B):c.1126A>G (p.Met376Val)	ACSM2B (M376V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282059	NM_001105069.2(ACSM2B):c.1118C>T (p.Ser373Phe)	ACSM2B (S373F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411695	NM_001105069.2(ACSM2B):c.1016A>C (p.Glu339Ala)	ACSM2B (E339A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263138	NM_001105069.2(ACSM2B):c.971C>G (p.Ser324Cys)	ACSM2B (S245C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786754	NM_001105069.2(ACSM2B):c.936T>C (p.Pro312=)	ACSM2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776988	NM_001105069.2(ACSM2B):c.913A>G (p.Ile305Val)	ACSM2B (I305V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773578	NM_001105069.2(ACSM2B):c.816A>C (p.Ser272=)	ACSM2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315612	NM_001105069.2(ACSM2B):c.730A>G (p.Met244Val)	ACSM2B (M165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381523	NM_001105069.2(ACSM2B):c.646T>A (p.Ser216Thr)	ACSM2B (S137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460873	NM_001105069.2(ACSM2B):c.597T>G (p.Asn199Lys)	ACSM2B (N120K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531938	NM_001105069.2(ACSM2B):c.453G>A (p.Met151Ile)	ACSM2B (M72I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342358	NM_001105069.2(ACSM2B):c.415C>A (p.Gln139Lys)	ACSM2B (Q60K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234401	NM_001105069.2(ACSM2B):c.272A>G (p.Gln91Arg)	ACSM2B (Q91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365797	NM_001105069.2(ACSM2B):c.158A>T (p.His53Leu)	ACSM2B (H53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355254	NM_001105069.2(ACSM2B):c.122C>T (p.Pro41Leu)	ACSM2B (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140459	NM_001105069.2(ACSM2B):c.14G>A (p.Arg5Gln)	ACSM2B (R5Q)	Single nucleotide variant (missense variant +1 more)	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 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	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 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	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
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: 48