"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374182	NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)	ABCA4 (M2151I +1 more)	Single nucleotide variant (missense variant)	Visual impairment +3 more	GUncertain significance
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 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 930749	NM_000350.3(ABCA4):c.5977del (p.Ser1993fs)	ABCA4 (S1993fs)	Deletion (frameshift variant)	Age related macular degeneration 2	GPathogenic
Select item 236142	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	ABCA4 (T1981R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GLikely pathogenic
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 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 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 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 931805	NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr)	ABCA4 (M1882T +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2	GUncertain significance
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +10 more	GConflicting classifications of pathogenicity
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 99373	NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	ABCA4 (N1805D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 374183	NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	ABCA4 (T1726fs)	Duplication (frameshift variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99283	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4 (P1486L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 99265	NM_000350.3(ABCA4):c.4253+43G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 636147	NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)	ABCA4 (W1408fs)	Deletion (frameshift variant)	Age related macular degeneration 2	GPathogenic
Select item 236106	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	ABCA4 (Q1291* +1 more)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 298247	NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)	ABCA4, LOC126805794 (C1224G +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +6 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 99224	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4 (R1129L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 92867	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4 (R1108C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 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)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99213	NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)	ABCA4 (G1091E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 99211	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4 (E1087K +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GPathogenic
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 99153	NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	ABCA4 (T897I +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 930609	NM_000350.3(ABCA4):c.2318A>G (p.Tyr773Cys)	ABCA4 (Y773C)	Single nucleotide variant (missense variant)	Age related macular degeneration 2	GUncertain significance
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 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 236080	NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	ABCA4 (W431*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 931937	NM_000350.3(ABCA4):c.785A>G (p.Asp262Gly)	ABCA4 (D262G)	Single nucleotide variant (missense variant)	Age related macular degeneration 2	GUncertain significance
Select item 373916	NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)	ABCA4 (C230S)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +1 more	GPathogenic
Select item 930839	NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)	ABCA4 (R226S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99347	NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	ABCA4 (G172S)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
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 99273	NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	ABCA4 (P143L)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +2 more	GPathogenic/Likely pathogenic
Select item 99113	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4 (P68L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 92871	NM_000350.3(ABCA4):c.67-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic

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Items: 43