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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMP22
(G150C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GConflicting classifications of pathogenicity
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+5 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PMP22
(S72L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
PMP22
(W39*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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