"Baylor Genetics"[submitter] AND "KCNK9"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033821	NM_001282534.2(KCNK9):c.467T>C (p.Met156Thr)	KCNK9 (M156T)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GUncertain significance
Select item 372887	NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	KCNK9 (R131H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic