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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SREBF1
(R557C +9 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary mucoepithelial dysplasia
+2 more
GPathogenic
MBTPS2
(R429H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic