"Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048159	NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	ABCA4, LOC126805793 (P1660S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 99332	NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	ABCA4, LOC126805793 (S1642R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +6 more	GPathogenic/Likely pathogenic; other
Select item 866120	NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)	ABCA4, LOC126805793 (L1627fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812203	NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	ABCA4, LOC126805793 (W1618C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1480040	NM_000350.3(ABCA4):c.4852T>C (p.Trp1618Arg)	ABCA4, LOC126805793 (W1618R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 866320	NM_000350.3(ABCA4):c.4849-1G>A	ABCA4, LOC126805793	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 3238643	NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)	ABCA4, LOC126805793 (I1602fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 866944	NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	Stargardt disease +2 more	GPathogenic/Likely pathogenic