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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MCM5
(T277N)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 8
+1 more
GUncertain significance
MCM5
(T466I)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 8
GPathogenic
MCM5
(R284fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
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