Related gene-specific medical variations for Gene (Select 3779) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287709	NM_004137.4(KCNMB1):c.40A>T (p.Thr14Ser)	KCNIP1, KCNMB1 (T14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287707	NM_004137.4(KCNMB1):c.232T>C (p.Trp78Arg)	KCNIP1, KCNMB1 (W78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287706	NM_004137.4(KCNMB1):c.82G>A (p.Val28Ile)	KCNIP1, KCNMB1 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113434	NM_004137.4(KCNMB1):c.436G>A (p.Val146Ile)	KCNIP1, KCNMB1 (V146I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049582	NM_004137.4(KCNMB1):c.418C>T (p.Arg140Trp)	KCNIP1, KCNMB1 (R140W)	Single nucleotide variant (missense variant +1 more)	KCNMB1-related disorder	GBenign
Select item 3043247	NM_004137.4(KCNMB1):c.240C>T (p.Asn80=)	KCNIP1, KCNMB1	Single nucleotide variant (synonymous variant +1 more)	KCNMB1-related disorder	GLikely benign
Select item 2596722	NM_004137.4(KCNMB1):c.13C>A (p.Leu5Met)	KCNIP1, KCNMB1 (L5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534126	NM_004137.4(KCNMB1):c.527C>A (p.Ala176Asp)	KCNIP1, KCNMB1 (A176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533850	NM_004137.4(KCNMB1):c.94T>C (p.Tyr32His)	KCNIP1, KCNMB1 (Y32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469837	NM_004137.4(KCNMB1):c.299A>G (p.Asn100Ser)	KCNIP1, KCNMB1 (N100S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377700	NM_004137.4(KCNMB1):c.379T>A (p.Phe127Ile)	KCNIP1, KCNMB1 (F127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372588	NM_004137.4(KCNMB1):c.241G>C (p.Val81Leu)	KCNIP1, KCNMB1 (V81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354643	NM_004137.4(KCNMB1):c.320C>T (p.Pro107Leu)	KCNIP1, KCNMB1 (P107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269024	NM_004137.4(KCNMB1):c.479C>G (p.Ser160Cys)	KCNIP1, KCNMB1 (S160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225607	NM_004137.4(KCNMB1):c.413C>T (p.Ala138Val)	KCNIP1, KCNMB1 (A138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224163	NM_004137.4(KCNMB1):c.278C>T (p.Thr93Met)	KCNIP1, KCNMB1 (T93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217355	NM_004137.4(KCNMB1):c.434G>A (p.Ser145Asn)	KCNIP1, KCNMB1 (S145N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211828	NM_004137.4(KCNMB1):c.337T>G (p.Tyr113Asp)	KCNIP1, KCNMB1 (Y113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206806	NM_004137.4(KCNMB1):c.290G>A (p.Arg97Gln)	KCNIP1, KCNMB1 (R97Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779246	NM_004137.4(KCNMB1):c.54C>T (p.Cys18=)	KCNIP1, KCNMB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 5941	NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys)	KCNIP1, KCNMB1 (E65K)	Single nucleotide variant (missense variant +1 more)	KCNMB1-related disorder +1 more	GBenign; protective

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Links from Gene

Items: 21