"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KCNN4"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2650070	NM_002250.3(KCNN4):c.918G>A (p.Gln306=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650071	NM_002250.3(KCNN4):c.683+333G>C	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675750	NM_002250.3(KCNN4):c.256-5G>A	LOC128598884, KCNN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1511648	NM_002250.2(KCNN4):c.-365G>T	KCNN4	Single nucleotide variant	not provided +1 more	GBenign/Likely benign

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