ACMSD[gene] - ClinVar

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Items: 47

	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 3137034	NM_138326.3(ACMSD):c.8T>C (p.Ile3Thr)	ACMSD (I3T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365890	NM_138326.3(ACMSD):c.14T>C (p.Ile5Thr)	ACMSD (I5T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 767825	NM_138326.3(ACMSD):c.33A>T (p.Pro11=)	ACMSD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3137020	NM_138326.3(ACMSD):c.62T>A (p.Phe21Tyr)	ACMSD (F21Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242705	NM_138326.3(ACMSD):c.76T>C (p.Trp26Arg)	ACMSD (W26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515464	NM_138326.3(ACMSD):c.113A>C (p.Lys38Thr)	ACMSD (K38T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136971	NM_138326.3(ACMSD):c.117G>T (p.Leu39Phe)	ACMSD (L39F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136975	NM_138326.3(ACMSD):c.270A>C (p.Leu90Phe)	ACMSD (L32F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255485	NM_138326.3(ACMSD):c.282G>C (p.Gln94His)	ACMSD (Q36H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561025	NM_138326.3(ACMSD):c.392G>A (p.Arg131His)	ACMSD (R73H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598546	NM_138326.3(ACMSD):c.418G>A (p.Gly140Arg)	ACMSD (G140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136990	NM_138326.3(ACMSD):c.453C>A (p.Asp151Glu)	ACMSD (D93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136995	NM_138326.3(ACMSD):c.454C>G (p.Leu152Val)	ACMSD (L94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764622	NM_138326.3(ACMSD):c.456G>A (p.Leu152=)	ACMSD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603296	NM_138326.3(ACMSD):c.461C>T (p.Ala154Val)	ACMSD (A96V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402322	NM_138326.3(ACMSD):c.470T>C (p.Leu157Pro)	ACMSD (L99P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386367	NM_138326.3(ACMSD):c.485C>T (p.Ala162Val)	ACMSD (A104V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058017	NM_138326.3(ACMSD):c.486+10G>A	ACMSD	Single nucleotide variant (intron variant)	ACMSD-related disorder	GLikely benign
Select item 2279189	NM_138326.3(ACMSD):c.538A>G (p.Met180Val)	ACMSD, CCNT2-AS1 (M122V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137014	NM_138326.3(ACMSD):c.622A>G (p.Met208Val)	ACMSD, CCNT2-AS1 (M208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406185	NM_138326.3(ACMSD):c.667G>A (p.Ala223Thr)	ACMSD, CCNT2-AS1 (A223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931507	NM_138326.3(ACMSD):c.677-14G>T	ACMSD, CCNT2-AS1	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3137022	NM_138326.3(ACMSD):c.713A>G (p.His238Arg)	ACMSD, CCNT2-AS1 (H238R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651379	NM_138326.3(ACMSD):c.715G>A (p.Gly239Arg)	ACMSD, CCNT2-AS1 (G181R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456661	NM_138326.3(ACMSD):c.721A>C (p.Ser241Arg)	ACMSD, CCNT2-AS1 (S183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137023	NM_138326.3(ACMSD):c.750C>A (p.Asp250Glu)	ACMSD, CCNT2-AS1 (D192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058305	NM_138326.3(ACMSD):c.765G>A (p.Pro255=)	ACMSD, CCNT2-AS1	Single nucleotide variant (synonymous variant)	ACMSD-related disorder	GLikely benign
Select item 2388309	NM_138326.3(ACMSD):c.808G>C (p.Asp270His)	ACMSD, CCNT2-AS1 (D212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255532	NM_138326.3(ACMSD):c.824A>G (p.Lys275Arg)	ACMSD, CCNT2-AS1 (K217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 668229	NM_138326.3(ACMSD):c.850-3dup	ACMSD, CCNT2-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 3137033	NM_138326.3(ACMSD):c.866G>A (p.Gly289Glu)	ACMSD, CCNT2-AS1 (G231E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261789	NM_138326.3(ACMSD):c.943A>G (p.Thr315Ala)	ACMSD, CCNT2-AS1 (T257A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690830	NM_138326.3(ACMSD):c.948+1G>A	ACMSD, CCNT2-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 686084	GRCh37/hg19 2q21.2-21.3(chr2:134363657-135605291)x3	ACMSD, MGAT5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 47