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Links from MedGen

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDRT15, CDRT4
+6 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
CDRT15, CDRT4
+6 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
ADORA2B, ARHGAP44
+18 more
Copy number loss
Hereditary liability to pressure palsies
Gnot provided
PMP22
Copy number loss
Hereditary liability to pressure palsies
Gnot provided
PMP22
(Q66P)
Single nucleotide variant
(missense variant +1 more)
Hereditary liability to pressure palsies
GUncertain significance
PMP22
(Y136S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
(V25G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
PMP22
(T89N)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
(A115V)
Single nucleotide variant
(missense variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(intron variant)
Hereditary liability to pressure palsies
GLikely pathogenic
PMP22
(Y97fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PMP22
(W140R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely pathogenic
PMP22
(W124*)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease, type I
GPathogenic
PMP22
(W124*)
Single nucleotide variant
(nonsense +1 more)
Hereditary liability to pressure palsies
GUncertain significance
PMP22
(L145fs)
Duplication
(frameshift variant +1 more)
Hereditary liability to pressure palsies
GUncertain significance
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Guillain-Barre syndrome, familial
+5 more
GUncertain significance
CDRT15, CDRT4
+6 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
CDRT15, CDRT4
+8 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
CDRT15, CDRT4
+6 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
CDRT15, CDRT4
+5 more
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
MALL, NPHP1
Copy number loss
Hereditary liability to pressure palsies
GPathogenic
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
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
PMP22
(A135T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, type I
+3 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+9 more
GBenign/Likely benign
PMP22
Single nucleotide variant
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+2 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(intron variant)
Roussy-Lévy syndrome
+9 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+3 more
GBenign
PMP22
Microsatellite
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GConflicting classifications of pathogenicity
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+2 more
GBenign/Likely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
PMP22
Microsatellite
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GBenign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary liability to pressure palsies
+1 more
GUncertain significance
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
PMP22
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease, type I
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+5 more
GBenign/Likely benign
PMP22
(L62R)
Single nucleotide variant
(missense variant +1 more)
Roussy-Lévy syndrome
+8 more
GUncertain significance
LMNA
(L512P +2 more)
Single nucleotide variant
(missense variant)
Hereditary liability to pressure palsies
GUncertain significance
MIR4731, PMP22
Deletion
Autosomal recessive Dejerine-Sottas syndrome
+1 more
GPathogenic
PMP22
(S22F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type IA
+1 more
GPathogenic
PMP22
(R157W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
PMP22
(A67T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+2 more
GConflicting classifications of pathogenicity
PMP22
(R95fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
+2 more
GPathogenic/Likely pathogenic
PMP22
(S7fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
PMP22
(T118M)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CDRT15, CDRT3
+25 more
Deletion
Hereditary liability to pressure palsies
+2 more
GPathogenic
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