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Links from Gene

Items: 1 to 100 of 485

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAG
Single nucleotide variant
(synonymous variant)
SAG-related disorder
GLikely benign
SAG
Duplication
not provided
GUncertain significance
SAG
Deletion
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
(D204E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SAG
(A375V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SAG
(A368G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
SAG
(Y259*)
Single nucleotide variant
(nonsense)
Oguchi disease-1
GLikely pathogenic
SAG
Single nucleotide variant
(splice acceptor variant)
Oguchi disease-1
GLikely pathogenic
SAG
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
SAG
(R294K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
SAG
(R85T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
SAG
(G80C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
SAG
(F151S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Deletion
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
(P206T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(K240R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(H305Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(D128A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(P364S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(V78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(R358H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SAG
(V78M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SAG
(H208Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
(Q182*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SAG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
(S330P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(T234P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(G396R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SAG
(D86E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
(K57Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
(E109K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(T7P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(N275I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(G31E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(A101V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ACKR3, AGAP1
+79 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
SAG
(E306K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAG
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SAG
(A68D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SAG
Deletion
not provided
GPathogenic
SAG
(R91Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(A196E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(D321V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SAG
(V49L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SAG
(V245M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAG
Indel
(intron variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(L111R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(S146Y)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SAG
Deletion
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(G58R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(E164K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAG
(E266K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(V339L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Deletion
(intron variant)
not provided
GLikely benign
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAG
(D389E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(C67W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(Q141R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(V324I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
(R70H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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