ClinVar for Gene (Select 24) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384111	NM_000350.3(ABCA4):c.607_611del (p.Ile203fs)	ABCA4 (I203fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3384108	NM_000350.3(ABCA4):c.749del (p.Phe250fs)	ABCA4 (F250fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3384098	NM_000350.3(ABCA4):c.2657del (p.Cys886fs)	ABCA4 (C812fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3383231	NM_000350.3(ABCA4):c.1838A>G (p.Asp613Gly)	ABCA4 (D613G)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 3382304	NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)	ABCA4 (Q612P)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GLikely pathogenic
Select item 3381910	NM_000350.3(ABCA4):c.5461-6T>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GLikely pathogenic
Select item 3381909	NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)	ABCA4 (N688fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 3381789	NM_000350.3(ABCA4):c.4924_4927del (p.Ser1642fs)	ABCA4, LOC126805793 (S1568fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381785	NM_000350.3(ABCA4):c.3965del (p.Pro1322fs)	ABCA4 (P1248fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3375458	NM_000350.3(ABCA4):c.5939C>T (p.Thr1980Ile)	ABCA4 (T1906I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3370420	NM_000350.3(ABCA4):c.1597C>T (p.Gln533Ter)	ABCA4 (Q533*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3370411	NM_000350.3(ABCA4):c.4539+1G>C	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3370285	NM_000350.3(ABCA4):c.291_292del (p.Tyr97_Asn98delinsTer)	ABCA4	Microsatellite (nonsense)	Cone-rod dystrophy 3	GPathogenic
Select item 3369802	NM_000350.3(ABCA4):c.1320CTT[1] (p.Phe442del)	ABCA4 (F442del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3369623	NM_000350.3(ABCA4):c.5444T>C (p.Leu1815Ser)	ABCA4 (L1741S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367083	NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)	ABCA4 (T1954R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 3359855	NM_000350.3(ABCA4):c.1645G>T (p.Ala549Ser)	ABCA4 (A549S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358725	NM_000350.3(ABCA4):c.859-529GTT[6]	ABCA4	Microsatellite (intron variant)	ABCA4-related disorder	GLikely benign
Select item 3358545	NM_000350.3(ABCA4):c.4540-2038C>G	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GLikely benign
Select item 3350325	NM_000350.3(ABCA4):c.4539+2061G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GBenign
Select item 3344881	NM_000350.3(ABCA4):c.4320del (p.Phe1440fs)	ABCA4 (F1366fs +1 more)	Deletion (frameshift variant)	ABCA4-related disorder	GPathogenic
Select item 3338946	NM_000350.3(ABCA4):c.6148-471C>T	ABCA4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338800	NM_000350.3(ABCA4):c.6559C>T (p.Gln2187Ter)	ABCA4 (Q2113* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338646	NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)	ABCA4 (L760P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 3338127	NM_000350.3(ABCA4):c.4254-17T>A	ABCA4	Single nucleotide variant (intron variant)	Visual impairment	GLikely pathogenic
Select item 3282765	NM_000350.3(ABCA4):c.1670A>T (p.Tyr557Phe)	ABCA4 (Y557F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282673	NM_000350.3(ABCA4):c.1129C>A (p.Leu377Met)	ABCA4 (L377M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282587	NM_000350.3(ABCA4):c.112G>A (p.Val38Ile)	ABCA4 (V38I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282493	NM_000350.3(ABCA4):c.5033T>C (p.Val1678Ala)	ABCA4 (V1678A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282394	NM_000350.3(ABCA4):c.1537G>A (p.Val513Ile)	ABCA4 (V513I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282116	NM_000350.3(ABCA4):c.2214G>T (p.Leu738Phe)	ABCA4 (L738F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281928	NM_000350.3(ABCA4):c.6632C>A (p.Ser2211Tyr)	ABCA4 (S2211Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281829	NM_000350.3(ABCA4):c.4642A>G (p.Ser1548Gly)	ABCA4 (S1548G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255560	NM_000350.3(ABCA4):c.2894A>T (p.Asn965Ile)	ABCA4 (N965I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 3251963	NM_000350.3(ABCA4):c.2654-2A>C	ABCA4	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 3 +2 more	GLikely pathogenic
Select item 3251920	NM_000350.3(ABCA4):c.3382G>A (p.Asp1128Asn)	ABCA4 (D1128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251392	NM_000350.3(ABCA4):c.3274G>T (p.Val1092Leu)	ABCA4 (V1092L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3249666	NM_000350.3(ABCA4):c.4289T>C (p.Leu1430Pro)	ABCA4 (L1356P +1 more)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 3249039	NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)	ABCA4 (W339*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3248846	NM_000350.3(ABCA4):c.2744-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 3247891	NC_000001.10:g.(?_94483475)_(94488958_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247890	NC_000001.10:g.(?_94525884)_(94528259_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247889	NC_000001.10:g.(?_94564009)_(94564419_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247888	NC_000001.10:g.(?_94458738)_(94505703_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247887	NC_000001.10:g.(?_94506745)_(94517274_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247886	NC_000001.10:g.(?_94530866)_(94544327_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247883	NC_000001.10:g.(?_94568551)_(94568718_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247882	NC_000001.10:g.(?_94520647)_(94520891_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247881	NC_000001.10:g.(?_94528648)_(94528893_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3239436	NM_000350.3(ABCA4):c.2604A>G (p.Pro868=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3238953	NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)	ABCA4 (G2000C +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 3238646	NM_000350.3(ABCA4):c.6282+3A>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 3238645	NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)	ABCA4 (E2058* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3238644	NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)	ABCA4 (Y1705H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3238643	NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)	ABCA4, LOC126805793 (I1602fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3237364	NM_000350.3(ABCA4):c.438del (p.Ile146fs)	ABCA4 (I146fs)	Deletion (frameshift variant)	Stargardt disease 3	GLikely pathogenic
Select item 3237363	NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)	ABCA4 (E89*)	Single nucleotide variant (nonsense)	Stargardt disease 3	GLikely pathogenic
Select item 3237362	NM_000350.3(ABCA4):c.67-1dup	ABCA4	Duplication (splice acceptor variant)	Stargardt disease 3	GPathogenic
Select item 3235181	NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)	ABCA4 (I410M)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 3234697	NM_000350.3(ABCA4):c.3737T>A (p.Leu1246His)	ABCA4, LOC126805794 (L1172H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233608	NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)	ABCA4	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 3233596	NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)	ABCA4 (L1710P +1 more)	Single nucleotide variant (missense variant)	Stargardt disease	GPathogenic
Select item 3103137	NM_000350.3(ABCA4):c.839T>A (p.Met280Lys)	ABCA4 (M280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103055	NM_000350.3(ABCA4):c.6626A>G (p.Gln2209Arg)	ABCA4 (Q2209R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103010	NM_000350.3(ABCA4):c.6588T>G (p.Ser2196Arg)	ABCA4 (S2196R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102365	NM_000350.3(ABCA4):c.4183C>T (p.Pro1395Ser)	ABCA4 (P1321S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101957	NM_000350.3(ABCA4):c.3723A>C (p.Arg1241Ser)	ABCA4, LOC126805794 (R1167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101713	NM_000350.3(ABCA4):c.3357C>G (p.His1119Gln)	ABCA4 (H1119Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101644	NM_000350.3(ABCA4):c.3002T>C (p.Val1001Ala)	ABCA4 (V927A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101629	NM_000350.3(ABCA4):c.2767C>G (p.Pro923Ala)	ABCA4 (P849A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101411	NM_000350.3(ABCA4):c.2089T>C (p.Trp697Arg)	ABCA4 (W697R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065861	NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)	ABCA4 (G1941V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3061301	NM_000350.3(ABCA4):c.3863-8C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GLikely benign
Select item 3053609	NM_000350.3(ABCA4):c.1937+425C>T	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder	GLikely benign
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 3030638	NM_000350.3(ABCA4):c.859-529GTT[5]	ABCA4	Microsatellite (intron variant)	ABCA4-related disorder	GBenign
Select item 3028166	NM_000350.3(ABCA4):c.153T>C (p.His51=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028162	NM_000350.3(ABCA4):c.284C>T (p.Ser95Leu)	ABCA4 (S95L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028157	NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)	ABCA4 (L113V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028150	NM_000350.3(ABCA4):c.341T>C (p.Met114Thr)	ABCA4 (M114T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028145	NM_000350.3(ABCA4):c.443-5_443-2del	ABCA4	Deletion (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028138	NM_000350.3(ABCA4):c.570+2T>G	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028130	NM_000350.3(ABCA4):c.583G>A (p.Val195Ile)	ABCA4 (V195I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028078	NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)	ABCA4 (M316T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028074	NM_000350.3(ABCA4):c.1247C>G (p.Ser416Ter)	ABCA4 (S416*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028066	NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)	ABCA4 (I451L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027981	NM_000350.3(ABCA4):c.1862G>C (p.Arg621Thr)	ABCA4 (R621T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027958	NM_000350.3(ABCA4):c.2123T>A (p.Met708Lys)	ABCA4 (M708K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027940	NM_000350.3(ABCA4):c.2331C>A (p.Ile777=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027929	NM_000350.3(ABCA4):c.2464A>G (p.Ser822Gly)	ABCA4 (S748G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027893	NM_000350.3(ABCA4):c.2857_2877del (p.Phe953_Thr959del)	ABCA4	Deletion (inframe_deletion +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027869	NM_000350.3(ABCA4):c.3117G>C (p.Gln1039His)	ABCA4 (Q1039H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027850	NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027841	NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027837	NM_000350.3(ABCA4):c.3422C>T (p.Ser1141Leu)	ABCA4 (S1067L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027833	NM_000350.3(ABCA4):c.3528C>T (p.Thr1176=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027823	NM_000350.3(ABCA4):c.3613G>A (p.Val1205Ile)	ABCA4, LOC126805794 (V1131I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027819	NM_000350.3(ABCA4):c.3625A>C (p.Met1209Leu)	ABCA4, LOC126805794 (M1135L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027812	NM_000350.3(ABCA4):c.3727T>G (p.Tyr1243Asp)	ABCA4, LOC126805794 (Y1169D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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