ClinVar for MedGen (Select 481430) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431874	NM_002240.5(KCNJ6):c.22A>G (p.Met8Val)	KCNJ6 (M8V)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	GUncertain significance
Select item 1342550	NM_002240.5(KCNJ6):c.25+11980A>G	KCNJ6	Single nucleotide variant (intron variant)	Keppen-Lubinsky syndrome	GUncertain significance
Select item 1232299	NM_002240.5(KCNJ6):c.191A>G (p.Asn64Ser)	KCNJ6, KCNJ6-AS1 (N64S)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	GUncertain significance
Select item 1170806	NM_002240.5(KCNJ6):c.1032C>T (p.Asp344=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	Keppen-Lubinsky syndrome +1 more	GBenign
Select item 1165658	NM_002240.5(KCNJ6):c.495A>G (p.Pro165=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	Keppen-Lubinsky syndrome +1 more	GBenign
Select item 585052	NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met)	KCNJ6 (K3M)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	Gnot provided
Select item 431712	NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg)	KCNJ6, KCNJ6-AS1 (L171R)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	GLikely pathogenic
Select item 189255	NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser)	KCNJ6, KCNJ6-AS1 (G154S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 189254	NM_002240.5(KCNJ6):c.452CCA[1] (p.Thr152del)	KCNJ6, KCNJ6-AS1 (T152del)	Microsatellite (inframe_deletion)	Keppen-Lubinsky syndrome	GPathogenic