"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KCNN4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209966	NM_002250.3(KCNN4):c.1169G>A (p.Arg390Gln)	KCNN4 (R390Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2007816	NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)	KCNN4 (H340N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3380622	NM_002250.3(KCNN4):c.707A>G (p.His236Arg)	KCNN4 (H236R)	Single nucleotide variant (missense variant)	not provided	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 2349860	NM_002250.3(KCNN4):c.233C>T (p.Ala78Val)	KCNN4 (A78V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380623	NM_002250.3(KCNN4):c.-5G>T	KCNN4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

ClinVar