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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WAS
(T45M)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+4 more
GConflicting classifications of pathogenicity
WAS
(V106fs)
Duplication
(frameshift variant)
Wiskott-Aldrich syndrome
GLikely pathogenic
WAS
(A129P)
Single nucleotide variant
(missense variant)
Wiskott-Aldrich syndrome
+2 more
GUncertain significance
WAS
(D224G)
Single nucleotide variant
(missense variant)
Wiskott-Aldrich syndrome
GLikely pathogenic
WAS
Single nucleotide variant
(splice acceptor variant)
Wiskott-Aldrich syndrome
GLikely pathogenic
WAS
(P354del)
Microsatellite
(inframe_deletion)
Thrombocytopenia 1
+2 more
GConflicting classifications of pathogenicity
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