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Items: 1 to 100 of 1309

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996786, LOC129996787
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
LOC129997072, LOC129997073
+147 more
Copy number gain
See cases
GPathogenic
CLVS2, FABP7
+91 more
Copy number loss
See cases
GPathogenic
CLVS2, FABP7
+75 more
Copy number loss
See cases
GUncertain significance
LOC129389631, LOC129389632
+8 more
Copy number gain
See cases
GUncertain significance
LOC129389631, LOC129389632
+8 more
Copy number gain
See cases
GUncertain significance
LOC129389631, LOC129389632
+8 more
Copy number gain
See cases
GLikely benign
LOC129389631, LOC129389632
+8 more
Copy number gain
See cases
GLikely benign
LOC129389631, LOC129389632
+8 more
Copy number gain
See cases
GUncertain significance
TRDN
Microsatellite
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LOC129389632, LOC129389633
+3 more
Duplication
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
TRDN, TRDN-AS1
+1 more
Duplication
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TRDN
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TRDN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TRDN
Single nucleotide variant
(stop lost)
Cardiovascular phenotype
GUncertain significance
TRDN
(Q729H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRDN
(Q729E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(Q729*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(G728V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
(G728R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TRDN
(Q727R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
(Q727*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GUncertain significance
TRDN
(Q726*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 5
+2 more
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
(G723R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(P722L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(P722A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
(Q718H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
(G717fs)
Deletion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(G717D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
(S716P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 5
GUncertain significance
TRDN
(S715G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
(G713E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TRDN
(P712L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
TRDN
(P712S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TRDN
(R711H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TRDN
(R711C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRDN
(D710E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
(A709E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRDN
(P708L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(P708S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
(F704I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
TRDN
(Q703H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(Q703R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(G699fs)
Deletion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TRDN
(N698S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRDN
(N698H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(N698D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TRDN
(Y697C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(Y697D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TRDN
(G696E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(D695V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TRDN
(V692I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
TRDN
(C691S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(S687N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Inversion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Indel
(splice donor variant)
Cardiovascular phenotype
GUncertain significance
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GBenign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(splice donor variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(splice donor variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
(V677G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(D676G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
TRDN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRDN
Deletion
(intron variant)
not provided
GBenign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
TRDN
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
TRDN
(E672K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
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