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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DST
Deletion
(intron variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GBenign
DST
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GBenign/Likely benign
DST
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GLikely benign
DST
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GBenign
DST
(A2379T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
DST
(T2134M)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GConflicting classifications of pathogenicity
DST
(H1927R)
Single nucleotide variant
(missense variant +1 more)
DST-related disorder
+3 more
GBenign/Likely benign
DST
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GConflicting classifications of pathogenicity
DST
(P247A +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DST
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DST
Single nucleotide variant
(synonymous variant)
DST-related disorder
+1 more
GLikely benign
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