CN239309[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 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 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 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 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 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 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 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 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 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 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 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 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 255923	NM_000350.3(ABCA4):c.4774-17_4774-16del	ABCA4, LOC126805793	Deletion (intron variant)	Age related macular degeneration 2 +9 more	GBenign
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 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 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 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 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 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 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 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 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
Select item 99246	NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)	ABCA4 (R1300Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GBenign/Likely benign
Select item 298245	NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])	ABCA4, LOC126805794	Deletion (inframe_deletion +1 more)	Cone-Rod Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 298246	NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 136241	NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 298247	NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)	ABCA4, LOC126805794 (C1224G +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GUncertain significance
Select item 143075	NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)	LOC126805794, ABCA4 (M1209T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +7 more	GBenign/Likely benign
Select item 298248	NM_000350.3(ABCA4):c.3607+13C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 7903	NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	ABCA4 (L1201R +1 more)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +7 more	GBenign/Likely benign
Select item 298249	NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser)	ABCA4 (T1196S +1 more)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GUncertain significance
Select item 298250	NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	ABCA4 (G1183C +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +7 more	GConflicting classifications of pathogenicity
Select item 136239	NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 298252	NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)	ABCA4 (K1069R +1 more)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298253	NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 99193	NM_000350.3(ABCA4):c.3051-14T>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +5 more	GBenign/Likely benign
Select item 99179	NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +6 more	GBenign/Likely benign
Select item 99169	NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 236095	NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	ABCA4 (T959A +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 7913	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	ABCA4 (R943Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 298254	NM_000350.3(ABCA4):c.2744-5C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 99153	NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	ABCA4 (T897I +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 298255	NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +7 more	GBenign/Likely benign
Select item 298256	NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 298257	NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val)	ABCA4 (L760V)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +5 more	GUncertain significance
Select item 99101	NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	ABCA4 (V643M)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 236084	NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GConflicting classifications of pathogenicity
Select item 193990	NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)	ABCA4 (V552I)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 236083	NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	ABCA4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 99064	NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)	ABCA4 (R537H)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +5 more	GBenign/Likely benign
Select item 283387	NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	ABCA4 (R511H)	Single nucleotide variant (missense variant)	ABCA4-related condition +7 more	GConflicting classifications of pathogenicity
Select item 298259	NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly)	ABCA4 (D498G)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GUncertain significance
Select item 298260	NM_000350.3(ABCA4):c.1356+14dup	ABCA4	Duplication (intron variant)	Cone-Rod Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 193579	NM_000350.3(ABCA4):c.1356+10dup	ABCA4	Duplication (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GBenign
Select item 298261	NM_000350.3(ABCA4):c.1356+6_1356+7insC	ABCA4	Insertion (intron variant)	Cone-Rod Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 99048	NM_000350.3(ABCA4):c.1356+5_1356+6insC	ABCA4	Insertion (intron variant)	Stargardt Disease, Recessive +5 more	GBenign/Likely benign
Select item 298262	NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)	ABCA4 (Y440C)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +5 more	GUncertain significance
Select item 99041	NM_000350.3(ABCA4):c.1269C>T (p.His423=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +7 more	GBenign/Likely benign
Select item 99040	NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)	ABCA4 (H423R)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GBenign/Likely benign
Select item 298263	NM_000350.3(ABCA4):c.1240-8G>C	ABCA4	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 99037	NM_000350.3(ABCA4):c.1240-14C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +10 more	GBenign
Select item 298264	NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related condition +6 more	GConflicting classifications of pathogenicity
Select item 298265	NM_000350.3(ABCA4):c.791G>A (p.Arg264His)	ABCA4 (R264H)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 298266	NM_000350.3(ABCA4):c.741C>T (p.Asn247=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 99454	NM_000350.3(ABCA4):c.635G>A (p.Arg212His)	ABCA4 (R212H)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 298267	NM_000350.3(ABCA4):c.468C>T (p.Ile156=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 298268	NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln)	ABCA4 (E111Q)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Recessive +3 more	GUncertain significance
Select item 236075	NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)	ABCA4 (Y106F)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 298269	NM_000350.3(ABCA4):c.-92C>T	ABCA4	Single nucleotide variant (5 prime UTR variant)	Cone-Rod Dystrophy, Recessive +5 more	GBenign/Likely benign
Select item 368834	NM_001193300.2(SEMA4A):c.-254-12C>T	SEMA4A	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +1 more	GUncertain significance

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