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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMP22
(Q86fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 1E
GLikely pathogenic
CDRT15, CDRT4
+7 more
Copy number gain
Charcot-Marie-Tooth disease type 1E
GPathogenic
PMP22
(W140R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Guillain-Barre syndrome, familial
+5 more
GUncertain significance
PMP22
(H121R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMP22
(C85W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GUncertain significance
PMP22
(E160K)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+6 more
GUncertain significance
PMP22
(G150V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+9 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+9 more
GBenign/Likely benign
PMP22
(W39C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(L62R)
Single nucleotide variant
(missense variant +1 more)
Roussy-Lévy syndrome
+8 more
GUncertain significance
PMP22
(G94fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GPathogenic
PMP22
(R157W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
PMP22
Deletion
(inframe_deletion +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
PMP22
(W28R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
PMP22
(A67P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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