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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS13
(I143V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTS13
(D187H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTS13
(R386C +1 more)
Single nucleotide variant
(missense variant)
Upshaw-Schulman syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS13
(V573I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTS13
(R1060W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ADAMTS13
(T1067A +1 more)
Single nucleotide variant
(missense variant +1 more)
Upshaw-Schulman syndrome
GUncertain significance
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