Related gene-specific medical variations for Gene (Select 200403) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189266	NM_144992.5(VWA3B):c.977A>G (p.Lys326Arg)	LOC126806278, VWA3B (K326R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042295	NM_144992.5(VWA3B):c.879C>T (p.His293=)	LOC126806278, VWA3B	Single nucleotide variant (synonymous variant +1 more)	VWA3B-related condition	GLikely benign
Select item 2572060	NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)	VWA3B (E641A +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 22	GUncertain significance
Select item 2248982	NM_144992.5(VWA3B):c.905T>C (p.Val302Ala)	LOC126806278, VWA3B (V302A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526884	GRCh37/hg19 2q11.2(chr2:98855690-98881182)	VWA3B	Copy number loss	not specified	GUncertain significance
Select item 1213771	NM_144992.5(VWA3B):c.544G>A (p.Val182Ile)	VWA3B (V182I)	Single nucleotide variant (non-coding transcript variant +1 more)	Spinocerebellar ataxia, autosomal recessive 22	GUncertain significance
Select item 718005	NM_144992.5(VWA3B):c.889G>A (p.Glu297Lys)	LOC126806278, VWA3B (E297K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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