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Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL3, BAD
+107 more
Copy number loss
See cases
GLikely pathogenic
ATL3
Deletion
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(3 prime UTR variant)
ATL3-related condition
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(A522S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATL3
(D537N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GBenign
ATL3
(R533K +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(D510fs +1 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
ATL3
(T507A +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(T504I +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(G501D +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(G501S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(I500V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ATL3
(H499R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(S497A +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1F
GBenign
ATL3
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Duplication
(intron variant)
not provided
GLikely benign
ATL3
Duplication
(intron variant)
not provided
GLikely benign
ATL3
Deletion
(intron variant)
not provided
GBenign
ATL3
Microsatellite
(intron variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GBenign
ATL3
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(Y491S +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(A490V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATL3
(A490T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ATL3
(A484S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATL3
(G483del +1 more)
Deletion
(inframe_deletion)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(G483* +1 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(G483R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
+2 more
GBenign/Likely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GConflicting classifications of pathogenicity
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(R497L +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(R479H +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(R479C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(Y474F +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(W469* +1 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(T486I +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(L466P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(L479Q +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
+2 more
GBenign/Likely benign
ATL3
(M458R +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(M458V +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(N456K +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GUncertain significance
ATL3
(F455L +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(Q471H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(G465fs +1 more)
Duplication
(frameshift variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(I446M +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(I446V +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(T443S +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(T443I +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(L442F +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(L442V +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GBenign/Likely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GBenign
ATL3
(A439V +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GUncertain significance
ATL3
(Y437F +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(G432S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(T431K +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(T449M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATL3
(T431A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
+1 more
GBenign/Likely benign
ATL3
(R424Q +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3
(R424* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATL3
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3
(F420I +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3, LOC126861231
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
LOC126861231, ATL3
(K417N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3, LOC126861231
(N414S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATL3, LOC126861231
(C411Y +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3, LOC126861231
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3, LOC126861231
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1F
GLikely benign
ATL3, LOC126861231
(Q396H +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3, LOC126861231
(R394H +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
ATL3, LOC126861231
(R394C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATL3, LOC126861231
(F393L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATL3, LOC126861231
(D390N +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1F
GUncertain significance
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