U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3TC2
(R1171C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GPathogenic/Likely pathogenic
SH3TC2
(R1109*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+4 more
GPathogenic
SH3TC2
(R1101fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
SH3TC2
(T1098I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SH3TC2
(R1012W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GConflicting classifications of pathogenicity
SH3TC2
(S1006F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SH3TC2
(R954*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4C
+7 more
GPathogenic/Likely pathogenic
SH3TC2
(L882F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH3TC2
(R854G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH3TC2
(M704L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH3TC2
(R658C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4C
+5 more
GPathogenic/Likely pathogenic
SH3TC2
Indel
(missense variant)
not provided
GUncertain significance
SH3TC2
(D614N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SH3TC2
(Y579*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SH3TC2
(R529H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3TC2
(D449E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SH3TC2
(Q108R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3TC2
(D85V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
SH3TC2
(G3D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination