"KCNJ2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1784208	NM_000891.3(KCNJ2):c.-1G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	KCNJ2-related condition +1 more	GConflicting classifications of pathogenicity
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 137986	NM_000891.3(KCNJ2):c.1035C>T (p.His345=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1409288	NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr)	KCNJ2 (P403T)	Single nucleotide variant (missense variant)	KCNJ2-related condition +2 more	GUncertain significance
Select item 1230618	NM_000891.3(KCNJ2):c.*10del	KCNJ2	Deletion (3 prime UTR variant)	KCNJ2-related condition +1 more	GLikely benign

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