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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNG
(N40fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
CHRNG
(R86C)
Single nucleotide variant
(missense variant)
Autosomal recessive multiple pterygium syndrome
+3 more
GPathogenic/Likely pathogenic