C1855465[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866510	NM_000350.3(ABCA4):c.6817-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
Select item 3065861	NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)	ABCA4 (G1941V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 190983	NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)	ABCA4	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99343	NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	ABCA4 (V1693I +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
Select item 236121	NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	ABCA4, LOC126805793 (L1580S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99219	NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	ABCA4 (R1108H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 1184970	NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)	ABCA4 (S1096L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99200	NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)	ABCA4 (R1055W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 99104	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 19 +3 more	GPathogenic
Select item 99083	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	ABCA4 (A60V)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 281139	NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	ABCB4 (A934T)	Single nucleotide variant (missense variant +1 more)	Progressive familial intrahepatic cholestasis type 1 +7 more	GConflicting classifications of pathogenicity
Select item 291252	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	ABCB4 (N510S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity