CN239167[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298215	NM_000350.3(ABCA4):c.*372A>G	ABCA4	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 298216	NM_000350.3(ABCA4):c.*299G>C	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 873737	NM_000350.3(ABCA4):c.*284T>C	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-Related Disorders	GUncertain significance
Select item 873738	NM_000350.3(ABCA4):c.*254C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-Related Disorders	GUncertain significance
Select item 873739	NM_000350.3(ABCA4):c.*228A>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-Related Disorders	GUncertain significance
Select item 298217	NM_000350.3(ABCA4):c.*147C>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +4 more	GUncertain significance
Select item 298218	NM_000350.3(ABCA4):c.*136G>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298219	NM_000350.3(ABCA4):c.*134G>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +5 more	GBenign/Likely benign
Select item 298220	NM_000350.3(ABCA4):c.*55G>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +4 more	GLikely benign
Select item 298221	NM_000350.3(ABCA4):c.*26C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +4 more	GLikely benign
Select item 874697	NM_000350.3(ABCA4):c.*23C>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-Related Disorders	GUncertain significance
Select item 874698	NM_000350.3(ABCA4):c.*10C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-Related Disorders	GUncertain significance
Select item 866026	NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)	ABCA4 (R2269Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 874699	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	ABCA4 (R2269* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GUncertain significance
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +11 more	GBenign
Select item 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +10 more	GBenign
Select item 99482	NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 7885	NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	ABCA4 (D2177N +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GBenign/Likely benign
Select item 377410	NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 875640	NM_000350.3(ABCA4):c.6439G>A (p.Ala2147Thr)	ABCA4 (A2147T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 298222	NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)	ABCA4 (R2139P +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298223	NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)	ABCA4 (V2114M +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 99444	NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +7 more	GBenign
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 99441	NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 99440	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +11 more	GBenign/Likely benign
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 876639	NM_000350.3(ABCA4):c.6147+8A>C	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders	GUncertain significance
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +11 more	GBenign
Select item 298224	NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe)	ABCA4 (L1985F +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +4 more	GUncertain significance
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	ABCA4-Related Disorders +5 more	GPathogenic
Select item 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +5 more	GConflicting classifications of pathogenicity
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 236140	NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	ABCA4 (G1961R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 136234	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +11 more	GBenign/Likely benign
Select item 99413	NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	ABCA4 (P1948L +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 99408	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +10 more	GBenign/Likely benign
Select item 99407	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +11 more	GBenign/Likely benign
Select item 873792	NM_000350.3(ABCA4):c.5737C>A (p.Pro1913Thr)	ABCA4 (P1913T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 298225	NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +7 more	GConflicting classifications of pathogenicity
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 99396	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +11 more	GBenign/Likely benign
Select item 874746	NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)	ABCA4 (F1880L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298226	NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu)	ABCA4 (F1870L +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +4 more	GUncertain significance
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +11 more	GConflicting classifications of pathogenicity
Select item 874747	NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)	ABCA4 (H1865Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 874748	NM_000350.3(ABCA4):c.5533C>T (p.Leu1845Phe)	ABCA4 (L1845F +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 874749	NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr)	ABCA4 (A1827T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +1 more	GUncertain significance
Select item 874750	NM_000350.3(ABCA4):c.5471G>C (p.Arg1824Thr)	ABCA4 (R1824T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 298227	NM_000350.3(ABCA4):c.5460+6C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GUncertain significance
Select item 298228	NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 7912	NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	ABCA4 (P1780A +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 875687	NM_000350.3(ABCA4):c.5312+11T>C	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632118	NM_000350.3(ABCA4):c.5312+3A>T	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875688	NM_000350.3(ABCA4):c.5281C>A (p.Pro1761Thr)	ABCA4 (P1761T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 875689	NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298229	NM_000350.3(ABCA4):c.5197-4C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298230	NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys)	ABCA4 (N1707K +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +5 more	GUncertain significance
Select item 632119	NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	ABCA4 (R1705W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 875690	NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99341	NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	ABCA4 (V1686M +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 876682	NM_000350.3(ABCA4):c.5018T>C (p.Val1673Ala)	ABCA4, LOC126805793 (V1673A +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 298231	NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser)	ABCA4, LOC126805793 (P1649S +1 more)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +5 more	GUncertain significance
Select item 298232	NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)	LOC126805793, ABCA4 (S1642I +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 298233	NM_000350.3(ABCA4):c.4848+13T>C	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298234	NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +4 more	GUncertain significance
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 99308	NM_000350.3(ABCA4):c.4668-15C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 632120	NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer)	ABCA4	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236118	NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 876683	NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298235	NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 298236	NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 873849	NM_000350.3(ABCA4):c.4549C>T (p.Arg1517Cys)	ABCA4 (R1517C +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders	GUncertain significance
Select item 298237	NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)	ABCA4 (P1511L +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 873850	NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 298238	NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys)	ABCA4 (E1504K +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +5 more	GUncertain significance
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +5 more	GPathogenic
Select item 377404	NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	ABCA4 (C1455R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 516858	NM_000350.3(ABCA4):c.4352+14C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 99280	NM_000350.3(ABCA4):c.4352+13G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 874797	NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99278	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4 (R1443H +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GPathogenic/Likely pathogenic
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99271	NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)	ABCA4 (T1428M +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +7 more	GBenign/Likely benign
Select item 298239	NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)	ABCA4 (M1419T +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +7 more	GConflicting classifications of pathogenicity
Select item 298240	NM_000350.3(ABCA4):c.4253+13G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 255922	NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +7 more	GBenign/Likely benign
Select item 99258	NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +6 more	GBenign/Likely benign
Select item 236109	NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	ABCA4 (E1399* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 298241	NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 7904	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4 (P1380L +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +8 more	GPathogenic/Likely pathogenic
Select item 874798	NM_000350.3(ABCA4):c.4128+12G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429378	NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 298242	NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 298243	NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly)	ABCA4 (A1326G +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GUncertain significance
Select item 875736	NM_000350.3(ABCA4):c.3971C>T (p.Ala1324Val)	ABCA4 (A1324V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 298244	NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala)	ABCA4 (D1316A +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +4 more	GUncertain significance

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