U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBF2
(T220R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC105369149, SBF2
+1 more
(W1721fs +3 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC101928008, SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B2
GLikely benign
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC101928008, SBF2
(W734fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4B2
GLikely pathogenic
SBF2
(P271L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2
(I273fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4B2
GLikely pathogenic
LOC105369149, SBF2
+1 more
(P1583fs +2 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4B2
GPathogenic
LOC101928008, SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GUncertain significance
SBF2
(H285R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GUncertain significance
LOC101928008, SBF2
(Y642* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B2
GPathogenic
SBF2, LOC101928008
(E696K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GLikely pathogenic
SBF2-AS1, SBF2
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
LOC101928008, SBF2
(M807T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(R500W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
LOC105369149, SBF2
+1 more
(Y1733C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2
(W54*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B2
GLikely pathogenic
LOC101928008, SBF2
(N965S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2, SBF2-AS1
(K1444fs +2 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4B2
GLikely pathogenic
SBF2
(H471Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC105369149, SBF2
+1 more
(G1712E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC105369149, SBF2
+1 more
(R1727G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GConflicting classifications of pathogenicity
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC101928008, SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC101928008, SBF2
(A633T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2-AS1, SBF2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC101928008, SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GConflicting classifications of pathogenicity
LOC101928008, SBF2
(K955E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
LOC101928008, SBF2
(M1001I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC105369149, SBF2
+1 more
(S1609A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2-AS1, SBF2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(L137V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(S147N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GConflicting classifications of pathogenicity
LOC130005303, SBF2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC130005303, SBF2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
LOC130005303, SBF2
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(P470T +1 more)
Single nucleotide variant
(missense variant)
SBF2-related disorder
+2 more
GConflicting classifications of pathogenicity
SBF2
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely pathogenic
SBF2, LOC101928008
(P866T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2
(R1271C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
LOC105369149, SBF2
+1 more
(Q1735* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B2
GPathogenic
LOC130005303, SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
LOC101928008, SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
SBF2, SBF2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
LOC101928008, SBF2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC105369149, SBF2
+1 more
(I1789V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SBF2, SBF2-AS1
(P1487S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
SBF2, LOC105369149
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B2
+2 more
GConflicting classifications of pathogenicity
LOC105369149, SBF2
+1 more
(R1679H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
LOC105369149, SBF2
+1 more
(Q1681* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(R342*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(R1312Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC101928008, SBF2
(A694V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SBF2, LOC101928008
(N808K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
+2 more
GUncertain significance
LOC101928008, SBF2
(I819M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
SBF2
(S1296L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
(K1602R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SBF2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LOC101928008, SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+3 more
GLikely benign
LOC101928008, SBF2
(A632T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+2 more
GBenign
SBF2
Single nucleotide variant
(synonymous variant)
SBF2-related disorder
+5 more
GConflicting classifications of pathogenicity
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
LOC101928008, SBF2
(I1055V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
+3 more
GUncertain significance
SBF2
(C160F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC101928008, SBF2
(R1145G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
+4 more
GUncertain significance
LOC101928008, SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+4 more
GBenign/Likely benign
LOC101928008, SBF2
(C656S +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
SBF2, SBF2-AS1
(L1521F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SBF2-AS1, SBF2
+1 more
(S1685W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SBF2, LOC101928008
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease
+3 more
GBenign/Likely benign
SBF2
(V1330A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
LOC105369149, SBF2
+1 more
(K1629del +1 more)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 4
+5 more
GUncertain significance
SBF2
(T1192A +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+2 more
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GConflicting classifications of pathogenicity
SBF2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
LOC101928008, SBF2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GLikely benign
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+4 more
GBenign/Likely benign
SBF2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B2
+6 more
GConflicting classifications of pathogenicity
SBF2
(E507K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SBF2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2
(R600Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination