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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3TC2
(Q1201*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4C
GPathogenic
SH3TC2
(P1114fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4C
GPathogenic
SH3TC2
(R1109*)
Single nucleotide variant
(nonsense)
Susceptibility to mononeuropathy of the median nerve, mild
+4 more
GPathogenic
SH3TC2
(R954*)
Single nucleotide variant
(nonsense)
SH3TC2-Related Disorders
+8 more
GPathogenic/Likely pathogenic
SH3TC2
(Y943*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+2 more
GPathogenic
SH3TC2
(R904*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+2 more
GPathogenic
SH3TC2
(L832fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4
GPathogenic
SH3TC2
(R658C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
SH3TC2
(E657K)
Single nucleotide variant
(missense variant)
Susceptibility to mononeuropathy of the median nerve, mild
+2 more
GPathogenic/Likely pathogenic
SH3TC2
(R583fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4C
GPathogenic
SH3TC2
(R529H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3TC2
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
SH3TC2
(Y169H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+13 more
GConflicting classifications of pathogenicity
SH3TC2
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
GUncertain significance
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