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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCOF1
(S341fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TCOF1
Deletion
(frameshift variant)
Treacher Collins syndrome
Gnot provided
TCOF1
(A875fs +1 more)
Duplication
(frameshift variant)
Treacher Collins syndrome
Gnot provided
TCOF1
(K1381fs +5 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
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