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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMP22
Duplication
Charcot-Marie-Tooth disease, type IA
GPathogenic
PMP22
(C42R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
+1 more
GUncertain significance
PMP22
(T23M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type IA
+1 more
GUncertain significance
PMP22
(H34Q)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
GUncertain significance
CDRT15, CDRT4
+7 more
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
PMP22
(A114V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
GUncertain significance
TEKT3
Copy number gain
Charcot-Marie-Tooth disease, type IA
Gnot provided
PMP22
Duplication
Charcot-Marie-Tooth disease, type IA
GPathogenic
PMP22
(L87P)
Single nucleotide variant
(missense variant +1 more)
Dejerine-Sottas disease
+6 more
GUncertain significance
PMP22
(H12R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GLikely pathogenic
PMP22
(W140R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
PMP22
(S131C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
+2 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Guillain-Barre syndrome, familial
+5 more
GUncertain significance
CDRT15, CDRT4
+9 more
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
CDRT15, CDRT4
+6 more
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
CDRT15, CDRT4
+6 more
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
CDRT15, CDRT4
+7 more
Duplication
Charcot-Marie-Tooth disease, type IA
GPathogenic
PMP22
(H121R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMP22
(C85W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+8 more
GUncertain significance
PMP22
(E160K)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+6 more
GUncertain significance
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease, type I
+9 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+9 more
GBenign/Likely benign
PMP22
(L145fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease, type I
+4 more
GPathogenic/Likely pathogenic
PMP22
(S79T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type IA
+1 more
GLikely pathogenic
PMP22
(L62R)
Single nucleotide variant
(missense variant +1 more)
Hereditary liability to pressure palsies
+8 more
GUncertain significance
PMP22
Copy number gain
Charcot-Marie-Tooth disease, type IA
GPathogenic
PMP22
(G94fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
PMP22
(S22F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type IA
+1 more
GPathogenic
PMP22
(A67T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
PMP22
(R95fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic/Likely pathogenic
PMP22
(S72L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+3 more
GPathogenic
PMP22
(M69K)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GPathogenic
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+6 more
GConflicting classifications of pathogenicity
PMP22
(S79C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
(L16P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
Duplication
Roussy-Lévy syndrome
+1 more
GPathogenic
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