"Eurofins Ntd Llc (ga)"[submitter] AND "ABCA4"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +6 more	GBenign/Likely benign
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 7885	NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	ABCA4 (D2177N +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +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)	Macular degeneration +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 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 497254	NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)	ABCA4 (R2107S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 99445	NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)	ABCA4 (E2096K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99444	NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
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)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 498228	NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)	ABCA4 (S2072N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 287181	NM_000350.3(ABCA4):c.6193G>C (p.Asp2065His)	ABCA4 (D2065H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282140	NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs)	ABCA4 (V2062fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99432	NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)	ABCA4 (K2056* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GConflicting classifications of pathogenicity
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 282260	NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)	ABCA4 (R2038Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
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 502046	NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val)	ABCA4 (M2014V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 502303	NM_000350.3(ABCA4):c.5899-2del	ABCA4	Deletion (splice acceptor variant)	Retinal dystrophy +1 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 498289	NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 99413	NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	ABCA4 (P1948L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 284077	NM_000350.3(ABCA4):c.5836-7C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 99396	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 19 +11 more	GBenign/Likely benign
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +10 more	GConflicting classifications of pathogenicity
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 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 166621	NM_000350.3(ABCA4):c.5312+8G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 502651	NM_000350.3(ABCA4):c.5289del (p.Val1764fs)	ABCA4 (V1764fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 196992	NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu)	ABCA4 (G1740E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99349	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	ABCA4 (T1721fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 99341	NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	ABCA4 (V1686M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 289420	NM_000350.3(ABCA4):c.4947del (p.Glu1650fs)	LOC126805793, ABCA4 (E1650fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	LOC126805793, ABCA4 (R1640W +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic; other
Select item 502461	NM_000350.3(ABCA4):c.4900G>T (p.Ala1634Ser)	ABCA4, LOC126805793 (A1634S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99319	NM_000350.3(ABCA4):c.4773+48C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +6 more	GConflicting classifications of pathogenicity
Select item 196811	NM_000350.3(ABCA4):c.4754G>A (p.Arg1585Gln)	ABCA4, LOC126805793 (R1585Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502045	NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala)	ABCA4, LOC126805793 (V1577A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 236118	NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +2 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)	Retinitis pigmentosa +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 92869	NM_000350.3(ABCA4):c.4540-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 99293	NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	ABCA4 (Q1513R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 502047	NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu)	ABCA4 (P1510L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 196609	NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter)	ABCA4 (Q1477* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 196608	NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 92868	NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 499759	NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)	ABCA4 (G1448R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99271	NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)	ABCA4 (T1428M +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +7 more	GBenign/Likely benign
Select item 290741	NM_000350.3(ABCA4):c.4254-5T>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 99260	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	ABCA4 (W1408R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic; other
Select item 255922	NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
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 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 136241	NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)	LOC126805794, ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +6 more	GConflicting classifications of pathogenicity
Select item 501982	NM_000350.3(ABCA4):c.3755A>T (p.Glu1252Val)	ABCA4, LOC126805794 (E1252V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 143075	NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)	ABCA4, LOC126805794 (M1209T +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +7 more	GBenign/Likely benign
Select item 99234	NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn)	ABCA4, LOC126805794 (D1204N +1 more)	Single nucleotide variant (missense variant)	not provided	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 7903	NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	ABCA4 (L1201R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +7 more	GBenign/Likely benign
Select item 195799	NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593846	NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 92867	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4 (R1108C +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 497940	NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser)	ABCA4 (P1088S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 284571	NM_000350.3(ABCA4):c.3139del (p.Glu1047fs)	ABCA4 (E1047fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +9 more	GPathogenic/Likely pathogenic
Select item 282022	NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu)	ABCA4 (Q1035E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289310	NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	ABCA4 (T1019M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +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)	Retinal dystrophy +1 more	GPathogenic
Select item 194919	NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg)	ABCA4 (G968R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 92866	NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)	ABCA4 (Q957K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 7913	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	ABCA4 (R943Q +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +8 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 7880	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	ABCA4 (V931M +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 92865	NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp)	ABCA4 (G928W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 99153	NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	ABCA4 (T897I +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +6 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)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99144	NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)	ABCA4 (W855* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
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

<< First< Prev

Page of 2