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Items: 1 to 100 of 742

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388571, LOC129388572
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Sacral defect with anterior meningocele
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
VANGL1, CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Duplication
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GLikely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Microsatellite
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
CASQ2, VANGL1
Deletion
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GLikely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Duplication
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
CASQ2, VANGL1
Deletion
(3 prime UTR variant)
Caudal regression sequence
+2 more
GLikely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+1 more
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GBenign/Likely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GBenign/Likely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+1 more
GUncertain significance
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+1 more
GConflicting classifications of pathogenicity
VANGL1, CASQ2
Single nucleotide variant
(3 prime UTR variant)
Caudal regression sequence
+2 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(3 prime UTR variant)
Caudal regression sequence
+4 more
GBenign/Likely benign
CASQ2
Single nucleotide variant
(3 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
Microsatellite
(inframe_insertion)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GConflicting classifications of pathogenicity
CASQ2
(E399A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
(D398del)
Microsatellite
(inframe_deletion)
not specified
GLikely benign
CASQ2
(E399K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+7 more
GBenign/Likely benign
CASQ2
(D398H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
(D398N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
(D396E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GLikely benign
CASQ2
(D396V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
(D398del)
Deletion
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GConflicting classifications of pathogenicity
CASQ2
(D396N)
Single nucleotide variant
(missense variant)
Progressive familial heart block
+5 more
GUncertain significance
CASQ2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
CASQ2
(D395fs)
Deletion
(frameshift variant)
not provided
GLikely benign
CASQ2, VANGL1
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+6 more
GBenign/Likely benign
CASQ2
(D395G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
(N390D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
(D389Y)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
(E387K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
(N384D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
Microsatellite
(inframe_insertion)
Catecholaminergic polymorphic ventricular tachycardia 2
+5 more
GConflicting classifications of pathogenicity
CASQ2
Microsatellite
(inframe_deletion)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
(D383E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
(D383del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CASQ2
(D383G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CASQ2
Microsatellite
(inframe_deletion)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
Deletion
(inframe_deletion +1 more)
Cardiovascular phenotype
GUncertain significance
CASQ2
(D379E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
CASQ2
(D379V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
CASQ2
(D378E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CASQ2
(E377del)
Deletion
(inframe_deletion)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
(E377D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GConflicting classifications of pathogenicity
CASQ2
(D376del)
Microsatellite
(inframe_deletion)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2
(D376G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASQ2
(D374G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
CASQ2
(D374V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
(D374N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
(L366P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GLikely pathogenic
CASQ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CASQ2
(D364fs)
Duplication
(frameshift variant)
not specified
GUncertain significance
CASQ2
(E363K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CASQ2
(I362T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASQ2
(I362L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
(W361*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CASQ2
(W361*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
GPathogenic
CASQ2
(W361S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GUncertain significance
CASQ2
(W361R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GLikely benign
CASQ2
(D351G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
CASQ2
(D351N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GLikely benign
CASQ2
(D351del)
Microsatellite
(inframe_indel +1 more)
Cardiovascular phenotype
GUncertain significance
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