ClinVar for MedGen (Select 349030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370285	NM_000350.3(ABCA4):c.291_292del (p.Tyr97_Asn98delinsTer)	ABCA4	Microsatellite (nonsense)	Cone-rod dystrophy 3	GPathogenic
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 2499508	NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)	ABCA4 (Y1400* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GPathogenic
Select item 2429001	NM_000350.3(ABCA4):c.5461-10T>G	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3	GPathogenic
Select item 1698912	NM_206933.4(USH2A):c.126C>G (p.Asn42Lys)	USH2A (N42K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3	GUncertain significance
Select item 1524182	NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)	ABCA4 (V1737M +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 1488510	NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)	ABCA4 (Q2187R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1447532	NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer)	ABCA4, LOC126805793	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1435338	NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)	ABCA4 (T2061fs)	Deletion (frameshift variant)	Cone-rod dystrophy 3 +2 more	GPathogenic
Select item 1312247	NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	ABCA4 (S2127P +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 1213963	NM_000350.3(ABCA4):c.3344T>G (p.Met1115Arg)	ABCA4 (M1115R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 1188983	NM_000350.3(ABCA4):c.4352+54A>G	ABCA4	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1188845	NM_000350.3(ABCA4):c.1240-65del	ABCA4	Deletion (intron variant)	Severe early-childhood-onset retinal dystrophy +4 more	GBenign
Select item 1065669	NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	ABCA4 (G1844C +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 1058365	NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	ABCA4 (R107Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1048166	NM_000350.3(ABCA4):c.[52C>T;5603A>T]	ABCA4 (R18W +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048163	NM_000350.3(ABCA4):c.[1610G>A;5603A>T]	ABCA4 (R537H +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048134	NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]	ABCA4 (N1868I +1 more)	Single nucleotide variant (intron variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048133	NM_000350.3(ABCA4):c.571-2A>T	ABCA4	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 1048132	NM_000350.3(ABCA4):c.[2588G>C;5603A>T]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048131	NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048127	NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)	ABCA4 (Y245fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 1048126	NM_000350.3(ABCA4):c.[3322C>T;6320G>A]	ABCA4 (R1108C +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1034173	NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His)	ABCA4 (Q1332H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3	GUncertain significance
Select item 1023776	NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)	ABCA4 (R943L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 1003784	NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)	ABCA4 (F1026L +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GUncertain significance
Select item 968588	NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)	ABCA4 (V256L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 967712	NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)	ABCA4	Indel (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 966011	NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)	ABCA4 (Y245*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 937179	NM_000350.3(ABCA4):c.303-3C>T	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +4 more	GUncertain significance
Select item 934230	NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg)	ABCA4 (L844R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 916723	NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg)	ABCA4	Single nucleotide variant (stop lost)	Cone-rod dystrophy 3	GUncertain significance
Select item 874699	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	ABCA4 (R2269* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +5 more	GUncertain significance
Select item 866492	NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)	ABCA4 (Q859R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 866082	NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)	ABCA4 (Q1713R +1 more)	Indel (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866045	NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	ABCA4, LOC126805793 (V1589M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 865830	NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)	ABCA4 (Y1139C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 854791	NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)	ABCA4 (S84fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 853893	NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)	ABCA4 (A1881V +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 849480	NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)	ABCA4 (V598M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GUncertain significance
Select item 839263	NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	ABCA4 (L1795V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 830003	NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)	ABCA4 (A1021fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 814001	NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)	ABCA4 (K583N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 812193	NM_000350.3(ABCA4):c.[1411G>A;5693G>A]	ABCA4 (E471K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812192	NM_000350.3(ABCA4):c.[1531C>T;872C>T]	ABCA4 (P291L +1 more)	Single nucleotide variant (missense variant)	maculopathy	GLikely pathogenic
Select item 689736	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4 (G2074V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 678757	NM_000350.3(ABCA4):c.4128+156C>T	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +4 more	GBenign
Select item 635979	NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)	ABCA4 (W871* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 635539	NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)	ABCA4 (W559*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 635493	NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)	ABCA4, LOC126805793 (L1566F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635441	NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	ABCA4 (R653L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 635154	NM_000350.2(ABCA4):c.[5512C>G;5882G>A]	ABCA4 (G1961E +3 more)	Single nucleotide variant (missense variant)	Stargardt disease	GPathogenic
Select item 599103	NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter)	ABCA4 (W239*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3	GPathogenic
Select item 587379	NM_000350.3(ABCA4):c.1765del (p.Trp589fs)	ABCA4 (W589fs)	Deletion (frameshift variant)	Cone-rod dystrophy 3 +1 more	GPathogenic
Select item 546600	NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	ABCA4 (L1473M +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GConflicting classifications of pathogenicity
Select item 546599	NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	ABCA4 (K2078Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 522787	NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 522465	NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	ABCA4 (Q1523* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 522459	NM_000350.3(ABCA4):c.5899-1G>T	ABCA4	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 3	GPathogenic
Select item 497936	NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	ABCA4, LOC126805793 (T1572M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 497057	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	ABCA4, LOC126805794 (G1203E +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 438087	NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)	ABCA4 (W499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 424760	NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]			Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 384319	NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	USH2A (G2313C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 377406	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	ABCA4 (Y1858N +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 377402	NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	ABCA4 (R511C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 374737	NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	ABCA4 (R124C)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 286835	NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)	ABCA4 (P940R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GUncertain significance
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 265997	NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	ABCA4 (M1778K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265996	NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	ABCA4 (Q447*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 265010	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	ABCA4 (M280L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 255925	NM_000350.3(ABCA4):c.5836-43C>A	ABCA4	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 255923	NM_000350.3(ABCA4):c.4774-17_4774-16del	ABCA4, LOC126805793	Deletion (intron variant)	not specified +9 more	GBenign
Select item 236149	NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	ABCA4 (A2216V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 236129	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4 (A1773V +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 236099	NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	ABCA4 (G1032fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 236087	NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	ABCA4 (F608I)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 236077	NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)	ABCA4 (F337L)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GUncertain significance
Select item 236071	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	ABCA4 (C54G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GLikely pathogenic
Select item 236068	NM_000350.2(ABCA4):c.[1A>G;6089G>A]	ABCA4 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Stargardt disease	GPathogenic
Select item 212727	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	ABCA4 (F655C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 166618	NM_000350.3(ABCA4):c.141A>G (p.Pro47=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +5 more	GBenign
Select item 143077	NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)	ABCA4 (R255C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +11 more	GBenign
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 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	not provided +11 more	GBenign
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 99471	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4 (R220C)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +6 more	GPathogenic/Likely pathogenic
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +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 99438	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4 (R2077W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 99433	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	ABCA4 (L2060R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GPathogenic
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	not provided +5 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 99426	NM_000350.3(ABCA4):c.6006-16G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign

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