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Items: 1 to 100 of 1212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC101928008, LOC105369149
+4 more
Deletion
Charcot-Marie-Tooth disease type 4
GLikely pathogenic
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
(A1806V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SBF2, SBF2-AS1
(S1801fs +2 more)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
SBF2, SBF2-AS1
(K1806R +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
(Q1833R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
SBF2, SBF2-AS1
(A1829T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
(C1828Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2-AS1, SBF2
(V1856M +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
(R1823H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Deletion
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
Duplication
(splice donor variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(A1814S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(K1813T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
(K1813E +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(D1769G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(M1804V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(A1757D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(A1800V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(A1757T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2-AS1, SBF2
+1 more
(A1792G +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(A1792V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(I1789V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC105369149, SBF2
+1 more
(C1742Y +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(Y1734C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(R1775H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
(R1775C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 4
GBenign
SBF2, SBF2-AS1
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2, SBF2-AS1
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Duplication
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2-AS1, LOC105369149
+1 more
(W1721S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, LOC105369149
+1 more
(R1720H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(P1762L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(R1753K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
+1 more
(K1752fs +2 more)
Insertion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC105369149, SBF2
+1 more
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 4
GPathogenic
LOC105369149, SBF2
+1 more
(L1750P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(T1749A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+3 more
GBenign/Likely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GConflicting classifications of pathogenicity
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(S1770C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(T1737S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
+1 more
(Q1735H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(Q1692L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(S1734R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(Y1733C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
(T1688M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(R1684Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
(N1680S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(N1680D +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(S1717F +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(S1717P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(E1745Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(G1712V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
LOC105369149, SBF2
+1 more
(R1701K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(T1693S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
(S1692P +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
SBF2-AS1, LOC105369149
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
(R1686S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+4 more
GConflicting classifications of pathogenicity
LOC105369149, SBF2
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SBF2-AS1, SBF2
+1 more
(S1685W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 4
GLikely pathogenic
LOC105369149, SBF2
+1 more
Deletion
(intron variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
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