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Links from MedGen

Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
(Q612P)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GLikely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GLikely pathogenic
ABCA4
(N688fs)
Duplication
(frameshift variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GPathogenic
ABCA4
(L760P)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 19
GLikely pathogenic
ABCA4
Single nucleotide variant
(splice acceptor variant)
Cone-rod dystrophy 3
+2 more
GLikely pathogenic
ABCA4
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 19
GLikely pathogenic
ABCA4
(L1829P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 19
GLikely pathogenic
ABCA4
(S1096fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
(F754S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCA4
(F1880fs)
Deletion
(frameshift variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(H566Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
(V1737M +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+4 more
GUncertain significance
ABCA4
(Q2187R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCA4, LOC126805794
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
(S2127P +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+4 more
GConflicting classifications of pathogenicity
ABCA4, LOC126805793
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 19
GUncertain significance
ABCA4
(F861fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ABCA4
Deletion
(intron variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GBenign
ABCA4
(M1882I +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCA4
(R107Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCA4, LOC126805793
(A1598G +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCA4
(N1868I +1 more)
Single nucleotide variant
(intron variant +1 more)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(G863A +3 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(N1868I +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(R1108C +3 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(R943L +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+4 more
GUncertain significance
ABCA4
(F1026L +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+4 more
GUncertain significance
ABCA4
(V256L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCA4
Indel
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Age related macular degeneration 2
+4 more
GUncertain significance
ABCA4
(R2269* +1 more)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 3
+5 more
GUncertain significance
ABCA4
(Q859R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ABCA4, LOC126805793
(V1589M +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ABCA4
(Y1139C +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GUncertain significance
ABCA4
(V598M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCA4
(L1795V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
ABCA4
(D279fs)
Deletion
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic
ABCA4
(P291L +1 more)
Single nucleotide variant
(missense variant)
maculopathy
GLikely pathogenic
ABCA4
(G2074V +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 3
+4 more
GBenign
ABCA4
(G1961E +3 more)
Single nucleotide variant
(missense variant)
Stargardt disease
GPathogenic
ABCA4
(R1705W +1 more)
Single nucleotide variant
(missense variant)
ABCA4-related disorder
+6 more
GConflicting classifications of pathogenicity
ABCA4
(L1473M +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+5 more
GConflicting classifications of pathogenicity
ABCA4, LOC126805793
(T1572M +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GUncertain significance
ABCA4, LOC126805794
(G1203E +1 more)
Single nucleotide variant
(missense variant)
ABCA4-related disorder
+7 more
GConflicting classifications of pathogenicity
ABCA4
(L296fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 19
+2 more
GPathogenic
ABCA4
Single nucleotide variant
(intron variant)
Cone-rod dystrophy
+3 more
GPathogenic/Likely pathogenic
ABCA4, LOC126805793
(H1625Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
Severe early-childhood-onset retinal dystrophy
GPathogenic
ABCA4
(Y1858N +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+4 more
GPathogenic/Likely pathogenic
ABCA4
(R511C)
Single nucleotide variant
(missense variant)
ABCA4-related disorder
+5 more
GConflicting classifications of pathogenicity
ABCA4
(R124C)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(W663*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCA4
(Q612*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 19
+1 more
GPathogenic
ABCA4
(P940R +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GUncertain significance
ABCA4
Deletion
(intron variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
(Q636*)
Single nucleotide variant
(nonsense)
Severe early-childhood-onset retinal dystrophy
+3 more
GPathogenic
ABCA4
(M280L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+4 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
ABCA4, LOC126805793
Deletion
(intron variant)
not specified
+9 more
GBenign
ABCA4
(A2216V +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(L2026P +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
ABCA4
(A1773V +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GPathogenic/Likely pathogenic
ABCA4
(R1098C +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+5 more
GPathogenic/Likely pathogenic
ABCA4
(N965S +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
ABCA4
(F337L)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GUncertain significance
ABCA4
(C54G)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GLikely pathogenic
ABCA4
(M1V +2 more)
Single nucleotide variant
(missense variant +1 more)
Stargardt disease
GPathogenic
ABCA4
(F655C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+5 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 3
+5 more
GBenign
ABCA4
(R2040Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 3
+11 more
GBenign
ABCA4
Single nucleotide variant
(synonymous variant)
Macular degeneration
+11 more
GBenign/Likely benign
ABCA4
(E328V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Stargardt disease
+7 more
GPathogenic/Likely pathogenic
ABCA4
(R24H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
ABCA4
(S2255I +1 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
Macular degeneration
+10 more
GBenign
ABCA4
(K223fs)
Deletion
(frameshift variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GPathogenic
ABCA4
(Q2220* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
(R220C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
(R2149* +1 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 19
+2 more
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 2
+6 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Age related macular degeneration 2
+10 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(synonymous variant)
Macular degeneration
+11 more
GBenign/Likely benign
ABCA4
(L2060R +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+4 more
GPathogenic
ABCA4
(R2040* +1 more)
Single nucleotide variant
(nonsense)
Severe early-childhood-onset retinal dystrophy
+5 more
GPathogenic
ABCA4
(R2030Q +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+6 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Age related macular degeneration 2
+5 more
GBenign
ABCA4
Deletion
(nonsense +1 more)
Retinitis pigmentosa 19
+5 more
GPathogenic
ABCA4
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 3
+10 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-related disorder
+11 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(intron variant)
Age related macular degeneration 2
+5 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
+7 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 19
+11 more
GBenign/Likely benign
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