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Links from MedGen

Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBF1
(R1191C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
(T962I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
(V144E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4B3
GLikely pathogenic
SBF1
(L983P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
(A527T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
(R1358W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
SBF1
(Y1353C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(D996G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(R208S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GUncertain significance
SBF1
(R507W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(A913T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(T1023S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
(P1550L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(R1645W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GConflicting classifications of pathogenicity
SBF1
(S1096L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SBF1
(R1321H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(Y1796* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B3
GLikely pathogenic
SBF1
(E1603K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Microsatellite
(inframe_insertion +1 more)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(G1064E +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126863186, PPP6R2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
GPathogenic
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
GPathogenic
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
(R763H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GLikely pathogenic
SBF1
(V1587M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GConflicting classifications of pathogenicity
SBF1
(G980R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
(V566L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(W54*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B3
GLikely pathogenic
SBF1
(P1084L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
(G19R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(R888H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
(T1481I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
(R1522W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
SBF1
(A1811G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SBF1
(T357A +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GUncertain significance
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely pathogenic
SBF1
(E100A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
(P1618T +1 more)
Single nucleotide variant
(missense variant)
SBF1-related disorder
+2 more
GConflicting classifications of pathogenicity
SBF1
(T1847A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
(S1289G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
(T752M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBF1
(V930I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
(R1283W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+3 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
(A290T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GLikely benign
SBF1
(M524L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign/Likely benign
SBF1
(N798S +1 more)
Single nucleotide variant
(missense variant)
SBF1-related disorder
+2 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SBF1
(E640Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
SBF1
(R1824H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GConflicting classifications of pathogenicity
SBF1
(Q1655H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+2 more
GUncertain significance
SBF1
(G1273D +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GBenign
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