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Items: 1 to 100 of 4068

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129930966, LOC129930967
+548 more
Copy number gain
See cases
GPathogenic
ABCA4, LOC112590828
+2 more
Deletion
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Macular degeneration
+4 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-related disorder
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-related disorder
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-related disorder
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Cone-Rod Dystrophy, Recessive
+4 more
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Macular degeneration
+5 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Macular degeneration
+4 more
GLikely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Macular degeneration
+4 more
GLikely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-related disorder
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-related disorder
GUncertain significance
ABCA4
Single nucleotide variant
(stop lost)
Cone-rod dystrophy 3
GUncertain significance
ABCA4
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ABCA4
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(splice donor variant)
Stargardt disease
+1 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ABCA4
(Q2272R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
ABCA4
(R2269Q +1 more)
Single nucleotide variant
(missense variant)
ABCA4-related disorder
+2 more
GUncertain significance
ABCA4
(R2269* +1 more)
Single nucleotide variant
(nonsense)
ABCA4-related disorder
+5 more
GUncertain significance
ABCA4
(S2268R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(R2263fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4
(R2263Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCA4
(R2263L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA4
(R2189G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCA4
(R2263* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
ABCA4
(P2262R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(P2259S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2184V +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
ABCA4
(L2184F +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
ABCA4
(L2258I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(H2256N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(S2255I +1 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GBenign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(K2250fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(A2249D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(F2245fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
Macular degeneration
+7 more
GConflicting classifications of pathogenicity
ABCA4
(V2244E +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
Deletion
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
Macular degeneration
+10 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ABCA4
Deletion
(intron variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
ABCA4
(L2241P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-related disorder
GLikely benign
ABCA4
(L2241V +1 more)
Single nucleotide variant
(missense variant)
Stargardt disease
+2 more
GConflicting classifications of pathogenicity
ABCA4
(T2240A +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(V2236fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ABCA4
(Q2238R +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(T2237fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ABCA4
(T2237fs)
Insertion
(frameshift variant)
not provided
Gnot provided
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(V2236fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ABCA4
(S2235P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2229fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4
(E2233V +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(E2232K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-related disorder
+1 more
GConflicting classifications of pathogenicity
ABCA4
(I2231V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2229P +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(S2224fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ABCA4
Deletion
(splice acceptor variant +1 more)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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