KCNJ6[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342550	NM_002240.5(KCNJ6):c.25+11980A>G	KCNJ6	Single nucleotide variant (intron variant)	Keppen-Lubinsky syndrome	GUncertain significance
Select item 1247407	NM_002240.5(KCNJ6):c.25+275T>C	KCNJ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252456	NM_002240.5(KCNJ6):c.25+103T>C	KCNJ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079202	NM_002240.5(KCNJ6):c.25+8G>A	KCNJ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745621	NM_002240.5(KCNJ6):c.25+7A>G	KCNJ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 585052	NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met)	KCNJ6 (K3M)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	Gnot provided
Select item 2663540	NM_002240.5(KCNJ6):c.2T>C (p.Met1Thr)	KCNJ6 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1226048	NM_002240.5(KCNJ6):c.-27-9C>T	KCNJ6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3361670	NM_002240.5(KCNJ6):c.1189A>C (p.Thr397Pro)	KCNJ6 (T397P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676465	NM_002240.5(KCNJ6):c.472C>T (p.Arg158Trp)	KCNJ6 (R158W)	Single nucleotide variant	not provided	GUncertain significance