"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438230	Single allele	ABCA4, LOC112590828 +2 more	Deletion	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
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 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +5 more	GPathogenic
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 99450	NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	ABCA4 (W2110* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 +2 more	GPathogenic/Likely pathogenic
Select item 438106	NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)	ABCA4 (K2076E +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 438105	NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)	ABCA4 (L2033R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 438104	NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)	ABCA4 (L2033P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 417994	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4 (K1978E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 438103	NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)	ABCA4 (F1839S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 438102	NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 99371	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4 (A1794D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438101	NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter)	ABCA4 (W1772* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99349	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	ABCA4 (T1721fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 438099	NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)	ABCA4 (S1696R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 438098	NM_000350.3(ABCA4):c.5018+5G>A	ABCA4, LOC126805793	Single nucleotide variant (intron 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)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 438097	NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	ABCA4, LOC126805793 (L1576R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99311	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	ABCA4, LOC126805793 (I1562T +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +7 more	GConflicting classifications of pathogenicity
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 99293	NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	ABCA4 (Q1513R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 438096	NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)	ABCA4 (Q1513fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 236115	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4 (G1507R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 377404	NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	ABCA4 (C1455R +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 99277	NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)	ABCA4 (F1440S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236110	NM_000350.3(ABCA4):c.4253+5G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 99267	NM_000350.3(ABCA4):c.4253+5G>T	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 7904	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4 (P1380L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 438095	NM_000350.3(ABCA4):c.4129-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 99246	NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)	ABCA4 (R1300Q +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 30218	NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	ABCA4 (E1122K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99218	NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)	ABCA4 (W1101* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438094	NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)	ABCA4 (I1100N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 438093	NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	ABCA4 (E1087* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 372290	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4 (S1071fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 438092	NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)	ABCA4 (Y1027* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 99196	NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	ABCA4 (E1022K +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99180	NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	ABCA4 (V989A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 438216	NM_000350.3(ABCA4):c.2918+1060G>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GLikely benign
Select item 99174	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4 (T972N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 438091	NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	ABCA4 (F938S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99143	NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	ABCA4 (A854T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 288341	NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	ABCA4 (V675I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438090	NM_000350.3(ABCA4):c.1984dup (p.Ala662fs)	ABCA4 (A662fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 99106	NM_000350.3(ABCA4):c.1938-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Macular dystrophy +2 more	GPathogenic
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 99087	NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GPathogenic/Likely pathogenic
Select item 438089	NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)	ABCA4 (D586G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 99062	NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	ABCA4 (R537C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 438088	NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter)	ABCA4 (C519*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
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 438087	NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)	ABCA4 (W499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 99045	NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	ABCA4 (S445R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438086	NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)	ABCA4 (Y340H)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99513	NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	ABCA4 (P309R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438109	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	ABCA4 (L296fs)	Deletion (frameshift variant)	Retinitis pigmentosa 19 +2 more	GPathogenic
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 438108	NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg)	ABCA4 (I240R)	Single nucleotide variant (missense variant)	Macular dystrophy	GLikely pathogenic
Select item 438107	NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)	ABCA4 (Q238*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 99122	NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	ABCA4 (C75G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 84