C1858386[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333409	NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs)	AIPL1 (T269fs +6 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 4	GLikely pathogenic
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 1687296	NM_014336.5(AIPL1):c.814del (p.Arg272fs)	AIPL1 (R209fs +6 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 4	GLikely pathogenic
Select item 2444393	NM_014336.5(AIPL1):c.623T>C (p.Leu208Pro)	AIPL1 (L145P +6 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 870936	NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	AIPL1 (G100R +4 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis +3 more	GPathogenic/Likely pathogenic
Select item 1333528	NM_014336.5(AIPL1):c.113G>A (p.Arg38His)	AIPL1 (R38H)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2444096	NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)	AIPL1 (K14E)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GLikely pathogenic

ClinVar