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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1C, TCTE1
(E310K)
Single nucleotide variant
(missense variant +1 more)
TCTE1-related disorder
GLikely benign
POLR1C, TCTE1
(L183F)
Single nucleotide variant
(missense variant +1 more)
TCTE1-related disorder
GLikely benign