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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRWD3
(T1569A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BRWD3
(E1380K)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 93
GUncertain significance
BRWD3
(C1300fs)
Duplication
(frameshift variant)
Intellectual disability, X-linked 93
GLikely pathogenic
BRWD3
(I1242V)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 93
+1 more
GUncertain significance
BRWD3
(R897W)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 93
GUncertain significance
BRWD3
(R190*)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 93
GPathogenic
BRWD3
(L32fs)
Duplication
(frameshift variant)
Intellectual disability, X-linked 93
GLikely pathogenic
BRWD3
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 93
GUncertain significance
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