"Blueprint Genetics"[submitter] AND "KLHL7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865975	NM_001031710.3(KLHL7):c.410T>C (p.Leu137Ser)	KLHL7 (L137S +1 more)	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)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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
Select item 867023	NM_001031710.3(KLHL7):c.472T>C (p.Cys158Arg)	KLHL7 (C110R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 865758	NM_001031710.3(KLHL7):c.820C>G (p.Pro274Ala)	KLHL7 (P226A +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 731601	NM_001031710.3(KLHL7):c.936+9T>A	KLHL7	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866031	NM_001031710.3(KLHL7):c.1380-12T>G	KLHL7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar