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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARCN1
(R312* +1 more)
Single nucleotide variant
(nonsense)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
GPathogenic
ARCN1
(W352* +1 more)
Single nucleotide variant
(nonsense)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
GLikely pathogenic