Related gene-specific medical variations for Gene (Select 55351) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270743	NM_018659.3(CYTL1):c.53C>G (p.Pro18Arg)	CYTL1, STK32B (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707634	GRCh37/hg19 4p16.2(chr4:5147197-5432416)x1	STK32B	Copy number loss	Syndromic anorectal malformation	Gassociation
Select item 1341274	GRCh37/hg19 4p16.2(chr4:5109395-5270117)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 562887	GRCh37/hg19 4p16.2(chr4:5221537-5440181)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 562886	GRCh37/hg19 4p16.2(chr4:5133065-5319773)x1	STK32B	Copy number loss	not provided	GUncertain significance

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