"Genome-Nilou Lab"[submitter] AND "ABCA4"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +11 more	GBenign
Select item 99426	NM_000350.3(ABCA4):c.6006-16G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 136234	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +11 more	GBenign/Likely benign
Select item 99408	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +10 more	GBenign/Likely benign
Select item 255925	NM_000350.3(ABCA4):c.5836-43C>A	ABCA4	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 99407	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +11 more	GBenign/Likely benign
Select item 99404	NM_000350.3(ABCA4):c.5715-25A>C	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign
Select item 99396	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 19 +11 more	GBenign/Likely benign
Select item 99389	NM_000350.3(ABCA4):c.5585-70C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +4 more	GBenign
Select item 255923	NM_000350.3(ABCA4):c.4774-17_4774-16del	ABCA4, LOC126805793	Deletion (intron variant)	not specified +9 more	GBenign
Select item 99319	NM_000350.3(ABCA4):c.4773+48C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1188983	NM_000350.3(ABCA4):c.4352+54A>G	ABCA4	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 678757	NM_000350.3(ABCA4):c.4128+156C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +4 more	GBenign
Select item 1342853	NM_000350.3(ABCA4):c.4128+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 1070817	NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)	ABCA4 (K583fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 99037	NM_000350.3(ABCA4):c.1240-14C>T	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 1188845	NM_000350.3(ABCA4):c.1240-65del	ABCA4	Deletion (intron variant)	Severe early-childhood-onset retinal dystrophy +4 more	GBenign
Select item 99189	NM_000350.3(ABCA4):c.302+26A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +5 more	GBenign
Select item 166618	NM_000350.3(ABCA4):c.141A>G (p.Pro47=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +5 more	GBenign

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Items: 20