"Institute of Human Genetics, University of Goettingen"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228387	NM_001031710.3(KLHL7):c.223+5G>C	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GLikely pathogenic
Select item 1228389	NM_001031710.3(KLHL7):c.815T>C (p.Leu272Pro)	KLHL7 (L224P +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GLikely pathogenic