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Links from MedGen

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(H566Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
(V1737M +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GUncertain significance
ABCA4
(Q2187R +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+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)
not provided
+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)
Severe early-childhood-onset retinal dystrophy
+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)
Cone-rod dystrophy 3
+4 more
GConflicting classifications of pathogenicity
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)
not provided
+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)
not provided
+4 more
GUncertain significance
ABCA4
(R2269* +1 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GUncertain significance
ABCA4
(Q859R +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+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)
Cone-rod dystrophy 3
+4 more
GUncertain significance
ABCA4
(L1795V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCA4
(D279fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ABCA4
(P291L +1 more)
Single nucleotide variant
(missense variant)
maculopathy
GLikely pathogenic
ABCA4
(G2074V +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+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
(L1473M +1 more)
Single nucleotide variant
(missense variant)
not provided
+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 Disorders
+6 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
Retinal 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)
Cone-rod dystrophy 3
+4 more
GPathogenic/Likely pathogenic
ABCA4
(R511C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(R124C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+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)
not provided
+1 more
GPathogenic
ABCA4
(P940R +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+6 more
GUncertain significance
ABCA4
Deletion
(intron variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
(Q636*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 19
+3 more
GPathogenic
ABCA4
(M280L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ABCA4, LOC126805793
Deletion
(intron variant)
Age related macular degeneration 2
+9 more
GBenign
ABCA4
(L2026P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
(A1773V +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GPathogenic/Likely pathogenic
ABCA4
(G863A +3 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GPathogenic
ABCA4
(G863A +3 more)
Single nucleotide variant
(missense variant +1 more)
Severe early-childhood-onset retinal dystrophy
GPathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
Severe early-childhood-onset 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)
Severe early-childhood-onset retinal dystrophy
GPathogenic
ABCA4
(F655C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
ABCA4
(R2040Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Stargardt Disease, Recessive
+11 more
GBenign
ABCA4
Single nucleotide variant
(synonymous variant)
Stargardt Disease, Recessive
+11 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-related condition
+7 more
GPathogenic/Likely pathogenic
ABCA4
(S2255I +1 more)
Single nucleotide variant
(missense variant)
not specified
+11 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
ABCA4-Related Disorders
+10 more
GBenign
ABCA4
(K223fs)
Deletion
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic
ABCA4
(Q2220* +1 more)
Single nucleotide variant
(nonsense)
ABCA4-related condition
+3 more
GPathogenic/Likely pathogenic
ABCA4
(R220C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
+4 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-related condition
+6 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
Retinitis Pigmentosa, Recessive
+10 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-Related Disorders
+11 more
GBenign/Likely benign
ABCA4
(L2060R +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 19
+4 more
GPathogenic
ABCA4
(R2040* +1 more)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+5 more
GPathogenic
ABCA4
(R2030Q +1 more)
Single nucleotide variant
(missense variant)
ABCA4-related condition
+6 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ABCA4
Deletion
(nonsense +1 more)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
Single nucleotide variant
(intron variant)
ABCA4-Related Disorders
+10 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not specified
+11 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
ABCA4-Related Disorders
+7 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Retinitis Pigmentosa, Recessive
+11 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ABCA4
(S1696N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCA4
Deletion
(inframe_deletion +1 more)
Retinal dystrophy
+7 more
GPathogenic
ABCA4, LOC126805793
(R1640W +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GPathogenic/Likely pathogenic; other
ABCA4, LOC126805793
(A1598D +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
ABCA4, LOC126805793
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ABCA4
(I156V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
ABCA4
(D1532N +1 more)
Single nucleotide variant
(missense variant)
ABCA4-related condition
+4 more
GPathogenic/Likely pathogenic
ABCA4
(T1526M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ABCA4
(Q1513fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
ABCA4
(C1490Y +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
(C1488R +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
(P1486L +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
ABCA4
(Q1412* +1 more)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+6 more
GPathogenic
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