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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TINF2, TGM1
(E281K +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TGM1
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic