ClinVar for MedGen (Select 908701) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689296	NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)	KCNN4 (R14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2689295	NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)	KCNN4 (M302L)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
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 2578032	NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)	KCNN4 (R15G)	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 2433018	NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)	KCNN4 (V114L)	Single nucleotide variant (missense variant)	not provided +2 more	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)	not provided +1 more	GUncertain significance
Select item 2433014	NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)	KCNN4 (T398M)	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 2349305	NM_002250.3(KCNN4):c.970A>G (p.Met324Val)	KCNN4 (M324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1333884	NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val)	KCNN4 (A336V)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 790207	NM_002250.3(KCNN4):c.820-2dup	KCNN4	Duplication (splice acceptor variant)	Dehydrated hereditary stomatocytosis 2 +1 more	GBenign/Likely benign
Select item 372186	NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)	KCNN4 (V282E)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic
Select item 372185	NM_002250.3(KCNN4):c.844G>A (p.Val282Met)	KCNN4 (V282M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic
Select item 252601	NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)	KCNN4 (R352H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2 +1 more	GPathogenic

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Items: 22