CN239167[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +11 more	GBenign
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 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 3041838	NM_000350.3(ABCA4):c.6721C>T (p.Leu2241=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder	GLikely benign
Select item 99482	NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +3 more	GPathogenic/Likely pathogenic
Select item 7885	NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	ABCA4 (D2177N +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 377410	NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 1660443	NM_000350.3(ABCA4):c.6333C>T (p.Asn2111=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
Select item 1513044	NM_000350.3(ABCA4):c.6301A>T (p.Met2101Leu)	ABCA4 (M2101L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99444	NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	Retinitis Pigmentosa, Recessive +10 more	GBenign/Likely benign
Select item 99440	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +11 more	GBenign/Likely benign
Select item 1083296	NM_000350.3(ABCA4):c.6147+9T>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +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)	Severe early-childhood-onset retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +11 more	GBenign
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)	Retinitis pigmentosa +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 136234	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +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)	Age related macular degeneration 2 +8 more	GConflicting classifications of pathogenicity
Select item 99408	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +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)	ABCA4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1013243	NM_000350.3(ABCA4):c.5692C>T (p.Arg1898Cys)	ABCA4 (R1898C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +10 more	GConflicting classifications of pathogenicity
Select item 1303027	NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp)	ABCA4 (G1844D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298228	NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis Pigmentosa, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 99367	NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4 (W1772* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 166621	NM_000350.3(ABCA4):c.5312+8G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 99343	NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	ABCA4 (V1693I +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +4 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 disorder +3 more	GConflicting classifications of pathogenicity
Select item 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +3 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 236116	NM_000350.3(ABCA4):c.4539+2028C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +3 more	GPathogenic
Select item 1653366	NM_000350.3(ABCA4):c.4536C>T (p.Pro1512=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 92868	NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)	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)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 725000	NM_000350.3(ABCA4):c.4284G>A (p.Thr1428=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 99265	NM_000350.3(ABCA4):c.4253+43G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +3 more	GConflicting classifications of pathogenicity
Select item 99267	NM_000350.3(ABCA4):c.4253+5G>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +2 more	GPathogenic
Select item 2631548	NM_000350.3(ABCA4):c.4231G>T (p.Gly1411Trp)	ABCA4 (G1337W +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder	GUncertain significance
Select item 255922	NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 99258	NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +6 more	GBenign/Likely benign
Select item 429378	NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1650758	NM_000350.3(ABCA4):c.4026G>A (p.Pro1342=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 875737	NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3061301	NM_000350.3(ABCA4):c.3863-8C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GLikely benign
Select item 99239	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4, LOC126805794 (T1253M +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1102348	NM_000350.3(ABCA4):c.3636T>A (p.Val1212=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 1133925	NM_000350.3(ABCA4):c.3603G>A (p.Leu1201=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 298250	NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	ABCA4 (G1183C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 92867	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4 (R1108C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 384346	NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +2 more	GBenign/Likely benign
Select item 136239	NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +9 more	GPathogenic/Likely pathogenic
Select item 99196	NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	ABCA4 (E1022K +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 1215505	NM_000350.3(ABCA4):c.3050+362_3050+370del	ABCA4	Deletion (intron variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 1604133	NM_000350.3(ABCA4):c.2982T>C (p.Ile994=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 1658090	NM_000350.3(ABCA4):c.2884C>T (p.Leu962=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2968413	NM_000350.3(ABCA4):c.2865G>A (p.Glu955=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 7913	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	ABCA4 (R943Q +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +8 more	GConflicting classifications of pathogenicity
Select item 99162	NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)	ABCA4 (R943W +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +2 more	GPathogenic/Likely pathogenic
Select item 99155	NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	ABCA4 (T901A +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +2 more	GConflicting classifications of pathogenicity
Select item 236093	NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	ABCA4 (P870L +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 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)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 2155638	NM_000350.3(ABCA4):c.2418T>C (p.Thr806=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 99118	NM_000350.3(ABCA4):c.2127G>A (p.Ser709=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 681135	NM_000350.3(ABCA4):c.1962T>C (p.Cys654=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 417982	NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)	ABCA4 (R653H)	Single nucleotide variant (missense variant)	ABCA4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3053609	NM_000350.3(ABCA4):c.1937+425C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GLikely benign
Select item 255916	NM_000350.3(ABCA4):c.1937+15C>T	ABCA4	Single nucleotide variant (intron variant)	not specified +2 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 +7 more	GConflicting classifications of pathogenicity
Select item 99070	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4 (G550R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 236083	NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GConflicting classifications of pathogenicity
Select item 283387	NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	ABCA4 (R511H)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 99041	NM_000350.3(ABCA4):c.1269C>T (p.His423=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +7 more	GBenign/Likely benign
Select item 99040	NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)	ABCA4 (H423R)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 866460	NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99037	NM_000350.3(ABCA4):c.1240-14C>T	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +10 more	GBenign
Select item 298264	NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 166617	NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 99516	NM_000350.3(ABCA4):c.981C>T (p.Pro327=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 859348	NM_000350.3(ABCA4):c.859-9T>C	ABCA4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3030638	NM_000350.3(ABCA4):c.859-529GTT[5]	ABCA4	Microsatellite (intron variant)	ABCA4-related disorder	GBenign
Select item 265010	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	ABCA4 (M280L)	Single nucleotide variant (missense variant)	ABCA4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 497258	NM_000350.3(ABCA4):c.769-3C>T	ABCA4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2578578	NM_000350.3(ABCA4):c.769-784C>T	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	Stargardt disease +7 more	GPathogenic/Likely pathogenic
Select item 99454	NM_000350.3(ABCA4):c.635G>A (p.Arg212His)	ABCA4 (R212H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 99434	NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	ABCA4 (S206R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 939644	NM_000350.3(ABCA4):c.570+7G>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +1 more	GLikely benign
Select item 1454995	NM_000350.3(ABCA4):c.470T>A (p.Leu157Ter)	ABCA4 (L157*)	Single nucleotide variant (nonsense)	ABCA4-related disorder +1 more	GPathogenic

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