Related gene-specific medical variations for Gene (Select 7881) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685094	GRCh37/hg19 3q25.31(chr3:155773538-155928270)x1	KCNAB1	Copy number loss	not provided	GUncertain significance
Select item 2496520	NM_172160.3(KCNAB1):c.388G>C (p.Glu130Gln)	KCNAB1, LOC126806853 (E112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527047	GRCh37/hg19 3q25.31(chr3:155774023-155935321)	KCNAB1	Copy number loss	not specified	GUncertain significance
Select item 980071	GRCh37/hg19 3q25.31(chr3:155758452-156039017)x3	KCNAB1	Copy number gain	not provided	GUncertain significance

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