"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982629	NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	KCNK9 (A237D)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome	GLikely pathogenic
Select item 983124	NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys)	KCNK9 (R131C)	Single nucleotide variant (missense variant +1 more)	Birk-Barel syndrome +1 more	GConflicting classifications of pathogenicity