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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBM10
(E125* +1 more)
Single nucleotide variant
(nonsense +1 more)
TARP syndrome
GPathogenic
RBM10
(A553P +4 more)
Single nucleotide variant
(missense variant)
TARP syndrome
+1 more
GBenign/Likely benign
RBM10
(W580C +4 more)
Single nucleotide variant
(missense variant)
TARP syndrome
GLikely pathogenic
RBM10
(Q587fs +4 more)
Microsatellite
(frameshift variant)
TARP syndrome
GPathogenic
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