ClinVar for MedGen (Select 400996) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2664496	NM_000350.3(ABCA4):c.6386+4A>G	ABCA4	Single nucleotide variant (intron variant)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 2664261	NM_000350.3(ABCA4):c.3286_3287del (p.Ser1096fs)	ABCA4 (S1096fs)	Deletion (frameshift variant)	Retinitis pigmentosa 19	GPathogenic
Select item 2664260	NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)	ABCA4 (F754S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2412706	NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)	ABCA4 (F1880fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1704303	NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)	ABCA4 (H566Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19	GPathogenic
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 1333445	NM_000350.3(ABCA4):c.3814-2A>T	ABCA4, LOC126805794	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 19	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 1213840	NM_000350.3(ABCA4):c.4849-8C>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Retinitis pigmentosa 19	GUncertain significance
Select item 1213839	NM_000350.3(ABCA4):c.2576_2579dup (p.Phe861fs)	ABCA4 (F861fs)	Duplication (frameshift variant)	Retinitis pigmentosa 19	GPathogenic
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 1184497	NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile)	ABCA4 (M1882I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1057512	NM_000350.3(ABCA4):c.4793C>G (p.Ala1598Gly)	ABCA4, LOC126805793 (A1598G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 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)	Severe early-childhood-onset retinal dystrophy +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 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 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 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 849480	NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)	ABCA4 (V598M)	Single nucleotide variant (missense variant)	not provided +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 812208	NM_000350.3(ABCA4):c.834del (p.Asp279fs)	ABCA4 (D279fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
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 635154	NM_000350.2(ABCA4):c.[5512C>G;5882G>A]	ABCA4 (G1961E +3 more)	Single nucleotide variant (missense variant)	Stargardt disease	GPathogenic
Select item 632119	NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	ABCA4 (R1705W +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +6 more	GConflicting classifications of pathogenicity
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 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)	Age related macular degeneration 2 +7 more	GConflicting classifications of pathogenicity
Select item 438109	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	ABCA4 (L296fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 427117	NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	ABCA4, LOC126805793 (H1625Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424760	NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]			Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 377406	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	ABCA4 (Y1858N +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +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 372289	NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	ABCA4 (W663*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372288	NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)	ABCA4 (Q612*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 286835	NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)	ABCA4 (P940R +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +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 265012	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	ABCA4 (Q636*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 265010	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	ABCA4 (M280L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +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 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 236090	NM_000350.3(ABCA4):c.2160+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 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)	Severe early-childhood-onset retinal dystrophy +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)	Severe early-childhood-onset 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 143076	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4 (R2040Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +11 more	GBenign
Select item 136234	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +11 more	GBenign/Likely benign
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 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +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 99478	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	ABCA4 (K223fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
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 99471	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4 (R220C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Blindness +5 more	GPathogenic
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 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +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 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)	Retinal dystrophy +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
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Retinitis pigmentosa 19 +5 more	GPathogenic
Select item 99408	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +10 more	GBenign/Likely benign
Select item 99407	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +11 more	GBenign/Likely benign
Select item 99404	NM_000350.3(ABCA4):c.5715-25A>C	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Stargardt disease +7 more	GPathogenic/Likely pathogenic
Select item 99396	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +11 more	GBenign/Likely benign
Select item 99389	NM_000350.3(ABCA4):c.5585-70C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +4 more	GBenign
Select item 99344	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	ABCA4 (S1696N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99340	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	ABCA4	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy +7 more	GPathogenic
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 99319	NM_000350.3(ABCA4):c.4773+48C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +5 more	GBenign
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	ABCA4-related disorder +7 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)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99303	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4 (T1526M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99294	NM_000350.3(ABCA4):c.4539+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	Cone-rod dystrophy 3 +2 more	GPathogenic

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