Related gene-specific medical variations for Gene (Select 9358) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111539	NM_004791.3(ITGBL1):c.1456G>C (p.Glu486Gln)	FGF14, ITGBL1 (E345Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2607298	NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)	FGF14, ITGBL1 (D407N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340992	NM_004791.3(ITGBL1):c.1301G>A (p.Cys434Tyr)	FGF14, ITGBL1 (C293Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527795	GRCh37/hg19 13q33.1(chr13:102206035-102268797)	ITGBL1	Copy number loss	not specified	GUncertain significance
Select item 1527794	GRCh37/hg19 13q33.1(chr13:102179717-102322729)	ITGBL1	Copy number loss	not specified	GUncertain significance
Select item 873432	NM_004115.4(FGF14):c.652G>T (p.Val218Phe)	ITGBL1, FGF14 (V223F +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27	GUncertain significance

ClinVar