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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805851, RBM8A
Single nucleotide variant
(intron variant)
Radial aplasia-thrombocytopenia syndrome
+1 more
GBenign/Likely benign
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Radial aplasia-thrombocytopenia syndrome
GBenign/Likely benign
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Global developmental delay
+5 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
LIX1L-AS1, LOC126805851
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
RBM8A-related disorder
+2 more
GConflicting classifications of pathogenicity; other
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