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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1A
(L656P)
Single nucleotide variant
(missense variant)
Acrofacial dysostosis Cincinnati type
GUncertain significance
POLR1A
(R504H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity