C1858806[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689736	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4 (G2074V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
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 99383	NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	ABCA4 (I1846T +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 99340	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	ABCA4	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy +7 more	GPathogenic
Select item 99284	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4 (C1488R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99263	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4 (Q1412* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +6 more	GPathogenic
Select item 99211	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4 (E1087K +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GPathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GPathogenic/Likely pathogenic
Select item 377402	NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	ABCA4 (R511C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 7898	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4 (R212C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic