ASB9[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2343577	NM_001031739.3(ASB9):c.844G>A (p.Val282Ile)	ASB9 (V282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392993	NM_001031739.3(ASB9):c.739C>A (p.Gln247Lys)	ASB9 (Q237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299728	NM_001031739.3(ASB9):c.602C>T (p.Ser201Phe)	ASB9 (S191F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206096	NM_001031739.3(ASB9):c.542C>T (p.Ala181Val)	ASB9 (A171V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3130212	NM_001031739.3(ASB9):c.533A>G (p.Gln178Arg)	ASB9 (Q178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602181	NM_001031739.3(ASB9):c.496C>T (p.His166Tyr)	ASB9 (H166Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130211	NM_001031739.3(ASB9):c.479T>C (p.Ile160Thr)	ASB9 (I150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660043	NM_001031739.3(ASB9):c.448_449del (p.Val150fs)	ASB9 (V150fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2660044	NM_001031739.3(ASB9):c.427A>G (p.Arg143Gly)	ASB9 (R143G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2365944	NM_001031739.3(ASB9):c.395G>C (p.Ser132Thr)	ASB9 (S132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130210	NM_001031739.3(ASB9):c.22A>C (p.Met8Leu)	ASB9 (M8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130209	NM_001031739.3(ASB9):c.16G>A (p.Gly6Arg)	ASB9 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980833	GRCh37/hg19 Xp22.2(chrX:15069608-15277654)x3	ASB9	Copy number gain	not provided	GUncertain significance