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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998021, TWIST1
(L159H)
Single nucleotide variant
(missense variant +1 more)
Saethre-Chotzen syndrome
GLikely pathogenic
LOC129998021, TWIST1
Duplication
(inframe_insertion +1 more)
Saethre-Chotzen syndrome
+1 more
GPathogenic/Likely pathogenic