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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL1
(L250R)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
+1 more
Gnot provided
ATL1
Deletion
(splice donor variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
Insertion
(intron variant)
not provided
+2 more
GBenign
ATL1
Deletion
(intron variant)
Neuropathy, hereditary sensory, type 1D
+2 more
GBenign
ATL1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1D
+2 more
GBenign
ATL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ATL1
(P540L +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
GUncertain significance
ATL1
(T278I)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
GUncertain significance
ATL1
(L57F)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+1 more
GBenign
ATL1
Insertion
(intron variant)
Neuropathy, hereditary sensory, type 1D
+1 more
GBenign
ATL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ATL1
(M371fs)
Duplication
(frameshift variant)
Neuropathy, hereditary sensory, type 1D
GLikely pathogenic
ATL1
(V326fs)
Deletion
(frameshift variant)
Neuropathy, hereditary sensory, type 1D
+1 more
GConflicting classifications of pathogenicity
ATL1
(D102E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+2 more
GBenign/Likely benign
ATL1
(S519N)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATL1, MAP4K5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign/Likely benign
ATL1
(D230N)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GUncertain significance
ATL1
(E308K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+2 more
GConflicting classifications of pathogenicity
ATL1
Duplication
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+5 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+6 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+5 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GBenign
ATL1
(E66Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATL1
(N355K)
Single nucleotide variant
(missense variant)
Osteomyelitis leading to amputation due to slow healing fractures
+3 more
GPathogenic
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign
ATL1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GBenign
ATL1
(R239C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+3 more
GPathogenic/Likely pathogenic
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