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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBF1
(C1872G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(A1811G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(R1824H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GConflicting classifications of pathogenicity
SBF1
(W1779S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R1708C +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SBF1
(Q1655H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GUncertain significance
SBF1
(V1587M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SBF1
(R1581W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(E1576K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(T1590A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBF1
(R1585W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(G1479S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(Y1353C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(R1321H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(A1304T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SBF1
(R1323Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(G1285R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R1283W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SBF1
Microsatellite
(inframe_insertion +1 more)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(A1270T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(T1263M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(A1258T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SBF1
(A1256T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(R1254H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(A1226T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(G1219S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(V1205L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(R1163H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R1116C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(A1109S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(P1084L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(R1053Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(I1021V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R1015Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R954H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(P942A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(L884V +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SBF1
(V823I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBF1
(N798S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBF1
(G784R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(L779F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(T752M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GConflicting classifications of pathogenicity
SBF1
(R732C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(V674M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R552Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(I548V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(M545T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(K476E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SBF1
(T96R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(A89V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(G19R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(R18P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBF1
(R18G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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