"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +13 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 99311	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	ABCA4, LOC126805793 (I1562T +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99239	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4, LOC126805794 (T1253M +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 7903	NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	ABCA4 (L1201R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 99301	NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	ABCA4 (R152Q)	Single nucleotide variant (missense variant)	ABCA4-related condition +4 more	GConflicting classifications of pathogenicity