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Items: 1 to 100 of 1601

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
ADM, ADM-DT
+135 more
Copy number gain
See cases
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
GBenign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GBenign
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
GBenign
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
GBenign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GBenign
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
GBenign
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
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
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
GBenign
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
SBF2-AS1, SBF2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GBenign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
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
GLikely benign
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)
not provided
+1 more
GBenign/Likely benign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
SBF2, SBF2-AS1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
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)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SBF2, SBF2-AS1
(C1857Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
(A1835T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B2
GUncertain significance
SBF2, SBF2-AS1
(Q1833R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
(G1789E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
Charcot-Marie-Tooth disease
+2 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, SBF2-AS1
(V1856M +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(synonymous variant)
SBF2-related condition
+1 more
GLikely benign
SBF2, SBF2-AS1
(R1823H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
SBF2, SBF2-AS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
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
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
LOC105369149, SBF2-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105369149, SBF2
+1 more
Deletion
(intron variant)
Charcot-Marie-Tooth disease type 4
GLikely benign
LOC105369149, SBF2
+1 more
Duplication
(intron variant)
not specified
+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
+2 more
GLikely benign
LOC105369149, SBF2
+1 more
Duplication
(splice donor variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
LOC105369149, SBF2
+1 more
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
SBF2-AS1, LOC105369149
+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
SBF2, SBF2-AS1
+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)
not provided
GLikely benign
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, LOC105369149
+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)
not provided
+2 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
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
GLikely benign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC105369149, SBF2
+1 more
Deletion
(intron variant)
not provided
GBenign
LOC105369149, SBF2
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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