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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTAP
Single nucleotide variant
(intron variant)
MTAP-related disorder
+1 more
GBenign
MTAP
(I46L)
Single nucleotide variant
(missense variant)
Diaphyseal medullary stenosis-bone malignancy syndrome
+1 more
GBenign/Likely benign
MTAP
Single nucleotide variant
(synonymous variant)
MTAP-related disorder
+1 more
GBenign/Likely benign
MTAP
(R187H +1 more)
Single nucleotide variant
(missense variant +1 more)
MTAP-related disorder
GLikely benign
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