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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH2D1A
Single nucleotide variant
(synonymous variant)
Mullegama-Klein-Martinez syndrome
+4 more
GBenign/Likely benign
SH2D1A
(K18R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity