Related gene-specific medical variations for Gene (Select 10242) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113436	NM_181361.3(KCNMB2):c.704G>A (p.Arg235Lys)	KCNMB2, KCNMB2-AS1 (R235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113435	NM_181361.3(KCNMB2):c.431A>G (p.Tyr144Cys)	KCNMB2, KCNMB2-AS1 (Y144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496177	NM_181361.3(KCNMB2):c.352G>A (p.Val118Ile)	KCNMB2, KCNMB2-AS1 (V118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468877	NM_181361.3(KCNMB2):c.445G>A (p.Gly149Arg)	KCNMB2, KCNMB2-AS1 (G149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370525	NM_181361.3(KCNMB2):c.242A>T (p.Glu81Val)	KCNMB2, KCNMB2-AS1 (E81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288222	NM_181361.3(KCNMB2):c.65A>G (p.Tyr22Cys)	KCNMB2, KCNMB2-AS1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273272	NM_181361.3(KCNMB2):c.564A>C (p.Thr188=)	KCNMB2, KCNMB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686046	GRCh37/hg19 3q26.32(chr3:178235536-178650773)x1	KCNMB2	Copy number loss	not provided	GUncertain significance
Select item 685787	GRCh37/hg19 3q26.32(chr3:177582022-178452545)x3	KCNMB2	Copy number gain	not provided	GUncertain significance

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