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Items: 4

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
(T681I)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+2 more
GUncertain significance
FREM1
(I596V)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
GUncertain significance
FREM1
(V34L)
Single nucleotide variant
(missense variant +1 more)
BNAR syndrome
+1 more
GUncertain significance
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