"Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 67568	NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2 (R82W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 67569	NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	KCNJ2 (R82Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GPathogenic/Likely pathogenic
Select item 446416	NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)	KCNJ2 (T130A)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 67581	NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	KCNJ2 (T192A)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GPathogenic
Select item 67585	NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	KCNJ2 (R218Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 637983	NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)	KCNJ2 (S265F)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 67594	NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	KCNJ2 (R312C)	Single nucleotide variant (missense variant)	KCNJ2-related condition +3 more	GPathogenic/Likely pathogenic
Select item 190820	NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	KCNJ2 (R312H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 161257	NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)	KCNJ2	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 190821	NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	KCNJ2 (R325C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 637982	NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)	KCNJ2 (S399T)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance