"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 1285582	NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr)	KLHL7 (N145Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 42	GLikely pathogenic
Select item 1009	NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	KLHL7 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic