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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM3AP-AS1, MCM3AP
(T1944M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MCM3AP, MCM3AP-AS1
(G1733C)
Single nucleotide variant
(missense variant)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
+1 more
GUncertain significance
MCM3AP, MCM3AP-AS1
(D1402N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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