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Items: 1 to 100 of 8023

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932646, LOC129932647
+967 more
Copy number gain
See cases
GPathogenic
LOC129932948, LOC129932949
+954 more
Copy number gain
See cases
GPathogenic
LOC129932666, LOC129932667
+954 more
Copy number gain
See cases
GPathogenic
LOC128772241, LOC128772242
+952 more
Copy number gain
See cases
GPathogenic
SCCPDH, SDCCAG8
+951 more
Copy number gain
See cases
GPathogenic
LOC129932613, LOC129932614
+949 more
Copy number gain
See cases
GPathogenic
LOC129932859, LOC129932860
+869 more
Copy number gain
See cases
GPathogenic
LOC129932775, LOC129932776
+655 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129932908, LOC129932909
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ACTN2, B3GALNT2
+88 more
Copy number gain
See cases
GPathogenic
LOC110121264, LOC110121265
+301 more
Copy number loss
See cases
GPathogenic
LOC129932885, LOC129932886
+9 more
Duplication
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
LOC126806066, RYR2
Copy number gain
See cases
GUncertain significance
RYR2
Single nucleotide variant
not provided
GBenign
RYR2
Single nucleotide variant
not provided
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC126806066, RYR2
Duplication
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
Deletion
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Microsatellite
(5 prime UTR variant)
not specified
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular dysplasia 2
+2 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RYR2
Single nucleotide variant
(5 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+1 more
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia
+1 more
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
RYR2
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
RYR2
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RYR2
(A2S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
(D3V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
(D3E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
(G4R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
(G4V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(G4A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+1 more
GConflicting classifications of pathogenicity
RYR2
(G5C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
RYR2
(G5D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(G7S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RYR2
(G7D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
(E10*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
RYR2
(E10A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
RYR2
(I11T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RYR2
(Q12H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
RYR2
(F13L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GConflicting classifications of pathogenicity
RYR2
(F13C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
(F13L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
RYR2
(L14P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Insertion
(inframe_insertion)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
(R15P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely pathogenic
RYR2
(T16A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RYR2
(T16fs)
Deletion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(splice donor variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
not provided
GBenign
RYR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
not provided
GBenign
RYR2
Single nucleotide variant
(intron variant)
not provided
GBenign
RYR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RYR2
Duplication
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GLikely benign
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