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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM3AP
(V1272M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MCM3AP
Single nucleotide variant
(intron variant)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
+2 more
GConflicting classifications of pathogenicity