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Items: 3

  • The following term was not found in ClinVar: Herrea.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
(T124M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+9 more
GPathogenic
MPZ
(H39P)
Single nucleotide variant
(missense variant)
MPZ-related disorder
+4 more
GPathogenic/Likely pathogenic
GNE
(M712T +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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