C1855465[trait identifier] AND "Institute of Human Genetics, Univ. Reg - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +7 more	GConflicting classifications of pathogenicity
Select item 236150	NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	ABCA4 (Q2238R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely 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 236149	NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	ABCA4 (A2216V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99473	NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	ABCA4 (Y2203* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 236148	NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)	ABCA4 (K2172R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 236147	NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)	ABCA4 (L2109P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 99447	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4 (R2106C +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 236146	NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG	ABCA4	Indel (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99441	NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +7 more	GConflicting classifications of pathogenicity
Select item 236145	NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)	ABCA4 (R2077Q +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99438	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4 (R2077W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GPathogenic/Likely pathogenic
Select item 236131	NM_000350.2(ABCA4):c.[5381C>A;6148G>C]	ABCA4 (V2050L +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 99430	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4 (R2038W +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 236143	NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236142	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	ABCA4 (T1981R +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +1 more	GLikely pathogenic
Select item 99422	NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)	ABCA4 (T1979I +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	ABCA4-related disorder +5 more	GPathogenic
Select item 236141	NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)	ABCA4 (L1970P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
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 +4 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)	Severe early-childhood-onset retinal dystrophy +12 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)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236139	NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)	ABCA4 (L1943P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 236138	NM_000350.3(ABCA4):c.5714+4C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GConflicting classifications of pathogenicity
Select item 236137	NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)	ABCA4 (G1886R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236136	NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)	ABCA4 (P1869L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 236135	NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)	ABCA4 (A1853D +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 197055	NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	ABCA4 (L1850P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236134	NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	ABCA4 (H1838R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236133	NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	ABCA4 (H1838N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99380	NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	ABCA4 (H1838D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236132	NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
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 236130	NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)	ABCA4 (P1788L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236129	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4 (A1773V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +6 more	GPathogenic/Likely pathogenic
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 99365	NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)	ABCA4 (L1763P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236127	NM_000350.3(ABCA4):c.5196+1056A>G	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 236126	NM_000350.3(ABCA4):c.5196+1013A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 99355	NM_000350.3(ABCA4):c.5196+2T>C	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Age related macular degeneration 2 +3 more	GPathogenic
Select item 236125	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4 (W1730* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236124	NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)	ABCA4 (Q1713K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99346	NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)	ABCA4 (R1705L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99344	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	ABCA4 (S1696N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 99342	NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	ABCA4 (S1689P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99338	NM_000350.3(ABCA4):c.5018+2T>C	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236123	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	ABCA4, LOC126805793 (P1660L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +6 more	GPathogenic/Likely pathogenic; other
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 236122	NM_000350.3(ABCA4):c.4773+3A>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GPathogenic
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 236121	NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	ABCA4, LOC126805793 (L1580S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 236120	NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)	ABCA4 (K1547fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236119	NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
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 99306	NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	ABCA4 (T1537M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 99304	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4 (D1532N +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 236117	NM_000350.3(ABCA4):c.4540-2036C>A	ABCA4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 236116	NM_000350.3(ABCA4):c.4539+2028C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 236115	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4 (G1507R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	Abnormal retinal morphology +5 more	GPathogenic
Select item 99285	NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)	ABCA4 (C1488Y +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99284	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4 (C1488R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +5 more	GPathogenic/Likely pathogenic
Select item 99283	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4 (P1486L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 236114	NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	ABCA4 (E1452* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 236113	NM_000350.3(ABCA4):c.4352+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236112	NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)	ABCA4 (W1449C +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99278	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4 (R1443H +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +5 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 236111	NM_000350.3(ABCA4):c.4254-1G>C	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236110	NM_000350.3(ABCA4):c.4253+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 99263	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4 (Q1412* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic
Select item 99260	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	ABCA4 (W1408R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic; other
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 99256	NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)	ABCA4 (E1399K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 236108	NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236107	NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 236106	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	ABCA4 (Q1291* +1 more)	Single nucleotide variant (nonsense)	Age related macular degeneration 2 +2 more	GPathogenic
Select item 236105	NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	ABCA4, LOC126805794 (I1272T +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236104	NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99240	NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)	ABCA4, LOC126805794 (E1270* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 99239	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4, LOC126805794 (T1253M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 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)	Macular degeneration +7 more	GBenign/Likely benign
Select item 236103	NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)	ABCA4 (S1178fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 236102	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4 (R1161H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99224	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4 (R1129L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 236101	NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)	ABCA4 (L1126P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99220	NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)	ABCA4 (R1108L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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