"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249124	NM_001031710.3(KLHL7):c.62G>C (p.Arg21Pro)	KLHL7 (R21P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 438051	NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)	KLHL7 (N145D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1010	NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)	KLHL7 (A153T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 1009	NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	KLHL7 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 3249052	NM_001031710.3(KLHL7):c.575A>G (p.His192Arg)	KLHL7 (H144R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249258	NM_001031710.3(KLHL7):c.583A>G (p.Asn195Asp)	KLHL7 (N147D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance

ClinVar