"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthc - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546599	NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	ABCA4 (K2078Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 829831	NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)	ABCA4 (R2038P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 522459	NM_000350.3(ABCA4):c.5899-1G>T	ABCA4	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 3	GPathogenic
Select item 265997	NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	ABCA4 (M1778K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 635493	NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)	ABCA4, LOC126805793 (L1566F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522465	NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	ABCA4 (Q1523* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 236099	NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	ABCA4 (G1032fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 830003	NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)	ABCA4 (A1021fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 635441	NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	ABCA4 (R653L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 635539	NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)	ABCA4 (W559*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 438087	NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)	ABCA4 (W499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265996	NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	ABCA4 (Q447*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 599103	NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter)	ABCA4 (W239*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GPathogenic
Select item 829880	NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	ABCA4 (L163fs)	Deletion (frameshift variant)	not provided	GPathogenic