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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(V18L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance