"Blueprint Genetics"[submitter] AND "AIPL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867131	NM_014336.5(AIPL1):c.941_960dup (p.Leu321fs)	AIPL1 (L258fs +6 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 5565	NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	AIPL1 (W278* +6 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 4 +5 more	GPathogenic
Select item 866735	NM_014336.5(AIPL1):c.784+21G>A	AIPL1 (G261R)	Single nucleotide variant (missense variant +1 more)	AIPL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 324614	NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)	AIPL1 (Y246S +7 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 324620	NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)	AIPL1 (M126K +4 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 867104	NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)	AIPL1 (G25R +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 99790	NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp)	AIPL1 (R53W +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +2 more	GUncertain significance

ClinVar