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Items: 1 to 100 of 1529

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
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
OR2T27, OR2T29
+655 more
Copy number gain
See cases
GPathogenic
LOC126806063, LOC126806064
+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
ACTN2, EDARADD
+29 more
Copy number gain
See cases
GUncertain significance
ACTN2, EDARADD
+28 more
Copy number gain
See cases
GUncertain significance
ACTN2, ADSS2
+301 more
Copy number loss
See cases
GPathogenic
ACTN2
Single nucleotide variant
not provided
GBenign
ACTN2
Single nucleotide variant
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
Single nucleotide variant
not provided
GLikely benign
ACTN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
Microsatellite
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTN2
Microsatellite
(5 prime UTR variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ACTN2
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign/Likely benign
LOC129932885, LOC129932886
+9 more
Duplication
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ACTN2
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ACTN2
Deletion
(inframe_deletion +2 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(M1V)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(N2K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(N2K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Q3R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Q3H)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(I4M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(P6S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(P6A)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(P6R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
ACTN2
(G7S)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, congenital, with structured cores and z-line abnormalities
+3 more
GConflicting classifications of pathogenicity
ACTN2
(V8L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ACTN2
(V8L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ACTN2
(V8M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
(Q9P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Q9R)
Single nucleotide variant
(missense variant +1 more)
ACTN2-related condition
+9 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
(N11H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
ACTN2
(N11S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Y12C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
(Y14C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ACTN2
(D15N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
ACTN2
(E16K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
(D17fs)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GLikely benign
ACTN2
(E18A)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Y19C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(M20V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ACTN2
(M20T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+5 more
GUncertain significance
ACTN2
(Q22*)
Single nucleotide variant
(nonsense +1 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
ACTN2
(Q22R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(Q22L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+3 more
GLikely benign
ACTN2
(E23Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(R28S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN2
(R28C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(D29N)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
ACTN2
(A35fs)
Deletion
(frameshift variant +1 more)
Cardiovascular phenotype
GUncertain significance
ACTN2
(A35T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(W36*)
Single nucleotide variant
(nonsense +1 more)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
ACTN2
(K38R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GBenign
ACTN2
(R41K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
ACTN2
Duplication
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GBenign
ACTN2
Deletion
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GBenign
ACTN2
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+2 more
GBenign
ACTN2
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Deletion
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN2
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTN2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+1 more
GLikely benign
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+5 more
GUncertain significance
ACTN2
(F44L)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
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