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Items: 1 to 100 of 559

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
ABCB10, ACBD3
+309 more
Copy number loss
See cases
GPathogenic
LOC129932859, LOC129932860
+869 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+313 more
Copy number loss
See cases
GPathogenic
LOC129932775, LOC129932776
+655 more
Copy number gain
See cases
GPathogenic
ACTA1
Duplication
not provided
GLikely benign
ACTA1
Single nucleotide variant
(3 prime UTR variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
(3 prime UTR variant)
Actin accumulation myopathy
+2 more
GUncertain significance
ACTA1
Duplication
(3 prime UTR variant)
not provided
GLikely benign
ACTA1
Single nucleotide variant
(stop lost)
Actin accumulation myopathy
GPathogenic
ACTA1
(F377S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
(C376Y)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(C376F)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic/Likely pathogenic
ACTA1
(K375N)
Single nucleotide variant
(missense variant)
Nemaline myopathy
GLikely pathogenic
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
ACTA1
(K375E)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(H373Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTA1
(I371M)
Single nucleotide variant
(missense variant)
Familial restrictive cardiomyopathy
+2 more
GUncertain significance
ACTA1
(S370Y)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(P369H)
Single nucleotide variant
(missense variant)
Myopathy
GUncertain significance
ACTA1
(P369L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ACTA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ACTA1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
(I359V)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(I359L)
Single nucleotide variant
(missense variant)
Congenital myopathy 2c, severe infantile, autosomal dominant
GPathogenic
ACTA1
(W358C)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(M357I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACTA1
(M357V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ACTA1
(F354S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACTA1
(A349fs)
Deletion
(frameshift variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(F354L)
Single nucleotide variant
(missense variant)
ACTA1-related myopathies
GLikely pathogenic
ACTA1
(T353A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACTA1
(S352F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(S352P)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
(S350W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(S350L)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(A349V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(L348Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTA1
(G345S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(G344D)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(G344S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(G344R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(I343M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(I343V)
Single nucleotide variant
(missense variant)
Progressive scapulohumeroperoneal distal myopathy
GUncertain significance
ACTA1
(S340A)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(Y339N)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(K338N)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(R337H)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(E336D)
Single nucleotide variant
(missense variant)
ACTA1-related disorder
GLikely pathogenic
ACTA1
(E336A)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(E336fs)
Deletion
(frameshift variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(P335R)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(P335L)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(P335Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTA1
(P335A)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(P334R)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(P334L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTA1
(P334S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+3 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(intron variant)
ACTA1-related disorder
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Microsatellite
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(intron variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACTA1
(K330fs)
Duplication
(frameshift variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(I329T)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(K328del)
Deletion
(inframe_deletion)
Actin accumulation myopathy
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
(K328N)
Single nucleotide variant
(missense variant)
Congenital myopathy 2c, severe infantile, autosomal dominant
GPathogenic
ACTA1
(M327I)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(M327K)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(S325R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
Deletion
(inframe_deletion)
Actin accumulation myopathy
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
Congenital myopathy with fiber type disproportion
+2 more
GUncertain significance
ACTA1
(L322Q)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
(L322V)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GUncertain significance
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
Single nucleotide variant
(synonymous variant)
Actin accumulation myopathy
GLikely benign
ACTA1
(E318D)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
+2 more
GUncertain significance
ACTA1
(D313fs)
Deletion
(frameshift variant)
Alpha-actinopathy
GLikely pathogenic
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