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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS19
(R38G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ADAMTS19
(G190S)
Single nucleotide variant
(missense variant)
ADAMTS19-related disorder
GLikely benign
ADAMTS19
(I359N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ADAMTS19
Single nucleotide variant
(splice acceptor variant)
ADAMTS19-related disorder
GUncertain significance
ADAMTS19
(S633R)
Single nucleotide variant
(missense variant)
ADAMTS19-related disorder
GLikely benign
ADAMTS19
(F732I)
Single nucleotide variant
(missense variant)
ADAMTS19-related disorder
GUncertain significance
ADAMTS19
(R975*)
Single nucleotide variant
(nonsense)
ADAMTS19-related disorder
GLikely pathogenic
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