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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FREM1
(S1471N)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 2
+5 more
GConflicting classifications of pathogenicity
FREM1, LOC126860582
(P888L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance