C1866422[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99456	NM_000350.3(ABCA4):c.6386+2C>G	ABCA4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 14 +9 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)	Cone-rod dystrophy 3 +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 2412706	NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)	ABCA4 (F1880fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 99294	NM_000350.3(ABCA4):c.4539+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 99174	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4 (T972N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 265012	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	ABCA4 (Q636*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +8 more	GPathogenic/Likely pathogenic
Select item 99035	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4 (R408*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 99478	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	ABCA4 (K223fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic