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Items: 1 to 100 of 687

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC111718490, LOC112067719
+388 more
Copy number gain
See cases
GPathogenic
LOC130005104, LOC130005105
+271 more
Copy number gain
See cases
GPathogenic
STIM1-AS1, SYT8
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
ASCL2, BRSK2
+129 more
Copy number loss
See cases
GPathogenic
ASCL2, C11orf21
+115 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
ASCL2, C11orf21
+52 more
Copy number gain
See cases
GPathogenic
KCNQ1, KCNQ1OT1
Duplication
(intron variant)
KCNQ1-related disorder
+1 more
GBenign/Likely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Microsatellite
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Deletion
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Deletion
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
KCNQ1-related disorder
+1 more
GBenign/Likely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1OT1
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Deletion
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GBenign
KCNQ1, KCNQ1OT1
Microsatellite
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Deletion
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Deletion
(intron variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
KCNQ1, KCNQ1OT1
Duplication
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Microsatellite
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Insertion
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Deletion
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Deletion
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Insertion
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Insertion
(non-coding transcript variant +1 more)
not provided
GBenign
KCNQ1, KCNQ1OT1
Insertion
(non-coding transcript variant +1 more)
not provided
GLikely benign
KCNQ1, KCNQ1OT1
Duplication
(intron variant)
KCNQ1-related disorder
+1 more
GLikely benign
KCNQ1OT1, KCNQ1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
KCNQ1-related disorder
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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