ACMSD[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	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