Related gene-specific medical variations for Gene (Select 3783) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689294	NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)	KCNN4 (P204R)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2689293	NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)	KCNN4	Deletion (nonsense)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2689292	NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)	KCNN4 (L7P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433022	NM_002250.3(KCNN4):c.766G>A (p.Val256Met)	KCNN4 (V256M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433021	NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)	KCNN4 (G3E)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433020	NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)	KCNN4 (L280Q)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433017	NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)	KCNN4 (G263S)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433016	NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)	KCNN4 (L131I)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433015	NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)	KCNN4, LOC128598884 (M88R)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433013	NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)	KCNN4 (Q424H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433012	NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)	KCNN4 (R97S)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 1675750	NM_002250.3(KCNN4):c.256-5G>A	LOC128598884, KCNN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1272988	NM_002250.3(KCNN4):c.256-8A>C	KCNN4, LOC128598884	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249984	NM_002250.3(KCNN4):c.256-10C>T	KCNN4, LOC128598884	Single nucleotide variant (intron variant)	not provided	GBenign