C1855465[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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Items: 20

	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)	Severe early-childhood-onset retinal dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +6 more	GPathogenic/Likely pathogenic
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 1805915	NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)	ABCA4 (G1969S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +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 99343	NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	ABCA4 (V1693I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic; other
Select item 236116	NM_000350.3(ABCA4):c.4539+2028C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 99286	NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	ABCA4 (C1488F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99260	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	ABCA4 (W1408R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic; other
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +10 more	GPathogenic/Likely pathogenic
Select item 7880	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4 (V931M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 212727	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	ABCA4 (F655C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1805043	NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)	ABCA4 (F503S)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99471	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4 (R220C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GPathogenic/Likely pathogenic
Select item 99166	NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	ABCA4 (N96D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 854791	NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)	ABCA4 (S84fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1806281	NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)	ABCA4 (N58I)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance

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Items: 20