ClinVar (all) for Orgtrack (Select 505832) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 177

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 236150	NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	ABCA4 (Q2238R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236149	NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	ABCA4 (A2216V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 236148	NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)	ABCA4 (K2172R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236147	NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)	ABCA4 (L2109P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236146	NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG	ABCA4	Indel (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236145	NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)	ABCA4 (R2077Q +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 236143	NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236142	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	ABCA4 (T1981R +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +1 more	GLikely pathogenic
Select item 236141	NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)	ABCA4 (L1970P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236140	NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	ABCA4 (G1961R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236139	NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)	ABCA4 (L1943P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236138	NM_000350.3(ABCA4):c.5714+4C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 236137	NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)	ABCA4 (G1886R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236136	NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)	ABCA4 (P1869L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 236135	NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)	ABCA4 (A1853D +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236134	NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	ABCA4 (H1838R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236133	NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	ABCA4 (H1838N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236132	NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 236131	NM_000350.2(ABCA4):c.[5381C>A;6148G>C]	ABCA4 (V2050L +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236130	NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)	ABCA4 (P1788L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236129	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4 (A1773V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +6 more	GPathogenic/Likely pathogenic
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 236127	NM_000350.3(ABCA4):c.5196+1056A>G	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 236126	NM_000350.3(ABCA4):c.5196+1013A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236125	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4 (W1730* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236124	NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)	ABCA4 (Q1713K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236123	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	ABCA4, LOC126805793 (P1660L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236122	NM_000350.3(ABCA4):c.4773+3A>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GPathogenic
Select item 236121	NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	ABCA4, LOC126805793 (L1580S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 236120	NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)	ABCA4 (K1547fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236119	NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236118	NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 236117	NM_000350.3(ABCA4):c.4540-2036C>A	ABCA4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 236116	NM_000350.3(ABCA4):c.4539+2028C>T	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 236115	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4 (G1507R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 236114	NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	ABCA4 (E1452* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 236113	NM_000350.3(ABCA4):c.4352+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236112	NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)	ABCA4 (W1449C +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236111	NM_000350.3(ABCA4):c.4254-1G>C	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236110	NM_000350.3(ABCA4):c.4253+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 236109	NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	ABCA4 (E1399* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236108	NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236107	NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 236106	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	ABCA4 (Q1291* +1 more)	Single nucleotide variant (nonsense)	Age related macular degeneration 2 +2 more	GPathogenic
Select item 236105	NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	ABCA4, LOC126805794 (I1272T +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236104	NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236103	NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)	ABCA4 (S1178fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 236102	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4 (R1161H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236101	NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)	ABCA4 (L1126P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236100	NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	ABCA4 (R1098C +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +3 more	GPathogenic/Likely pathogenic
Select item 236099	NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	ABCA4 (G1032fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 236098	NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)	ABCA4 (L980F +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236097	NM_000350.3(ABCA4):c.2919-10T>C	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 236096	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	ABCA4 (N965S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 236095	NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	ABCA4 (T959A +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 236094	NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)	ABCA4 (E898* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236093	NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	ABCA4 (P870L +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 236092	NM_000350.2(ABCA4):c.[2588G>C;5153T>G]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236091	NM_000350.2(ABCA4):c.[2588G>C;3289A>T]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
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 236089	NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)	ABCA4 (P640A)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236088	NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)	ABCA4 (G631R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236087	NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	ABCA4 (F608I)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 236086	NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)	ABCA4 (V598G)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236085	NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)	ABCA4 (M573I)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236084	NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 236083	NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 236082	NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	ABCA4 (Y528*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236081	NM_000350.3(ABCA4):c.1357-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic/Likely pathogenic
Select item 236080	NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	ABCA4 (W431*)	Single nucleotide variant (nonsense)	Age related macular degeneration 2 +2 more	GPathogenic
Select item 236079	NM_000350.3(ABCA4):c.1239+1G>C	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic
Select item 236078	NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	ABCA4 (Y362*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
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 236076	NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)	ABCA4 (L319R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 236075	NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)	ABCA4 (Y106F)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 236074	NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)	ABCA4 (W69*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 236073	NM_000350.3(ABCA4):c.180G>C (p.Ala60=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 236072	NM_000350.3(ABCA4):c.160+2T>C	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
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 236070	NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)	ABCA4 (L29R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 236069	NM_000350.3(ABCA4):c.67-1G>C	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 236068	NM_000350.2(ABCA4):c.[1A>G;6089G>A]	ABCA4 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 212727	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	ABCA4 (F655C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 197055	NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	ABCA4 (L1850P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193990	NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)	ABCA4 (V552I)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 166617	NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)	ABCA4	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 136238	NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)	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 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
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 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	ABCA4-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 99473	NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	ABCA4 (Y2203* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 99470	NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)	ABCA4 (R219T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 99447	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4 (R2106C +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 99441	NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2