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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZ
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
MPZ
(W101C)
Single nucleotide variant
(missense variant)
MPZ-related disorder
GLikely pathogenic
MPZ
(W101*)
Single nucleotide variant
(nonsense)
MPZ-related disorder
+4 more
GPathogenic
MPZ
(H39P)
Single nucleotide variant
(missense variant)
MPZ-related disorder
+4 more
GPathogenic/Likely pathogenic
MPZ
Single nucleotide variant
(5 prime UTR variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MPZ, SDHC
Duplication
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth, Intermediate
+9 more
GBenign
MPZ
Duplication
not specified
GUncertain significance
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