"Genomics England Pilot Project, Genomics England"[submitter] AND "ABC - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	ABCA4-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 143076	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4 (R2040Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +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 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Stargardt disease +7 more	GPathogenic/Likely pathogenic
Select item 1184497	NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile)	ABCA4 (M1882I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +7 more	GPathogenic/Likely pathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99303	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4 (T1526M +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +5 more	GPathogenic
Select item 99145	NM_000350.3(ABCA4):c.2571del (p.Asp858fs)	ABCA4 (D858fs)	Deletion (frameshift variant)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 99104	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 812208	NM_000350.3(ABCA4):c.834del (p.Asp279fs)	ABCA4 (D279fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic