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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCOF1
(K1269R +5 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 1
GUncertain significance
TCOF1
(E1376fs +5 more)
Indel
(frameshift variant)
Treacher Collins syndrome 1
GLikely pathogenic