Related gene-specific medical variations for Gene (Select 9711) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067820	NM_014687.4(RUBCN):c.1786+2595_1786+2596del	RUBCN (S621fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 2775435	NM_014687.4(RUBCN):c.2647-2A>G	RUBCN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 15	GPathogenic
Select item 2435492	NM_014687.4(RUBCN):c.1474-5G>T	RUBCN	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 980661	GRCh37/hg19 3q29(chr3:197386179-197446948)x1	RUBCN	Copy number loss	not provided	GUncertain significance
Select item 686139	GRCh37/hg19 3q29(chr3:197398202-197448788)x3	RUBCN	Copy number gain	not provided	GUncertain significance
Select item 377027	NM_014687.4(RUBCN):c.2209C>T (p.Arg737Trp)	RUBCN (R692W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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