U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 3828

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805769, LOC126805770
+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)
Cone-Rod Dystrophy, Recessive
+5 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Cone-Rod Dystrophy, Recessive
+4 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-Related Disorders
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-Related Disorders
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-Related Disorders
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)
Cone-Rod Dystrophy, Recessive
+5 more
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Cone-Rod Dystrophy, Recessive
+5 more
GBenign/Likely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Cone-Rod Dystrophy, Recessive
+4 more
GLikely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
Cone-Rod Dystrophy, Recessive
+4 more
GLikely benign
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-Related Disorders
GUncertain significance
ABCA4
Single nucleotide variant
(3 prime UTR variant)
ABCA4-Related Disorders
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)
not provided
+1 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)
not provided
+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)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
ABCA4
(R2269Q)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
ABCA4
(R2269*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 19
+5 more
GUncertain significance
ABCA4
(S2268R)
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)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCA4
(R2263L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ABCA4
(R2189G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ABCA4
(R2263*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
ABCA4
(P2262R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(P2259S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2258I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(H2256N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(S2255I)
Single nucleotide variant
(missense variant)
not provided
+10 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
(F2245fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GConflicting classifications of pathogenicity
ABCA4
(V2244E)
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)
not specified
+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)
Cone-rod dystrophy 3
+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)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCA4
(L2241V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA4
(T2240A)
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)
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)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2229fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4
(E2233V)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
GLikely pathogenic
ABCA4
(E2232K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
Single nucleotide variant
(synonymous variant)
ABCA4-Related Disorders
+1 more
GConflicting classifications of pathogenicity
ABCA4
(I2231V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4
(L2229P)
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
ABCA4
(Q2220*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA4
(I2218fs)
Deletion
(frameshift variant)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination