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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBM8A
Single nucleotide variant
(nonsense)
Radial aplasia-thrombocytopenia syndrome
GPathogenic
LOC126805851, RBM8A
(V70fs)
Insertion
(frameshift variant)
Radial aplasia-thrombocytopenia syndrome
GPathogenic
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Radial aplasia-thrombocytopenia syndrome
+5 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
RBM8A-related condition
+2 more
GConflicting classifications of pathogenicity; other
LIX1L, ANKRD35
+10 more
Deletion
Radial aplasia-thrombocytopenia syndrome
GPathogenic
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