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Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
ACTR1A, ARL3
+121 more
Copy number loss
See cases
GPathogenic
ACTR1A, ARL3
+135 more
Deletion
Desmoplastic/nodular medulloblastoma
GPathogenic
ARL3
(A179P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(A179T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ARL3
(V173A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(N171I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(M170I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(M170T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARL3
(M170V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ARL3
(V166I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(G165S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARL3
(L161R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(C158G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ARL3
(S157A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(R151Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(R151*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARL3
(D150N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+1 more
GBenign/Likely benign
ARL3
(R149H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ARL3
(R149C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(L143fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ARL3
(N144Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(A140V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(I139T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(P135L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GBenign/Likely benign
ARL3
(P135S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(K127E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(I123V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARL3
(V121A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARL3
(V119M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(C118F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
ARL3
(C118R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(E113fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(L110V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
(G104D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(T103M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARL3
(R99I)
Single nucleotide variant
(missense variant)
Progressive cone degeneration
GPathogenic
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(D96E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(D93N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(Y90S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(Y90C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARL3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARL3
Microsatellite
(intron variant)
not provided
GLikely benign
ARL3
Deletion
(intron variant)
Joubert syndrome 35
GBenign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Deletion
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARL3
(D86N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(Y81D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
(R72K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(Q71*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARL3
(G70R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(D67V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(D67N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 83
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+1 more
GBenign/Likely benign
ARL3
(Q57*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARL3
(V56I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(S55N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(K54*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ARL3
(N52T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
ARL3
(N52S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
(F51L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARL3
(Q49R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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