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Items: 1 to 100 of 2714

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD4, ACIN1
+780 more
Copy number gain
See cases
GPathogenic
LOC130055505, LOC130055506
+814 more
Copy number gain
See cases
GPathogenic
LOC129390619, LOC129390620
+859 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+3284 more
Copy number gain
See cases
GPathogenic
LOC112272545, LOC112272546
+3279 more
Copy number gain
See cases
GPathogenic
OR11H6, OR11H7
+399 more
Copy number gain
See cases
GPathogenic
LOC130055260, LOC130055261
+840 more
Copy number loss
See cases
GPathogenic
TRAJ3, TRAJ30
+529 more
Copy number gain
See cases
GLikely pathogenic
AP1G2, AP1G2-AS1
+45 more
Copy number gain
See cases
GUncertain significance
MYH6
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign/Likely benign
MYH6
(D1937E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH6
(D1937N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MYH6
(M1935I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(M1935I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
(M1935fs)
Duplication
(frameshift variant)
not provided
+2 more
GUncertain significance
MYH6
(M1935T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(M1935V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1932*)
Single nucleotide variant
(nonsense)
Atrial septal defect 3
+6 more
GUncertain significance
MYH6
(A1931fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYH6
(A1931V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
MYH6
(A1931T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
(G1930S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(G1930R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH6
(I1929V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(D1928N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYH6
(R1927H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+2 more
GUncertain significance
MYH6
(R1927L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
(R1927C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH6
(R1923*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 14
+2 more
GUncertain significance
MYH6
(N1920S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(Q1918L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(E1916D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH6
(A1915T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(D1913N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
MYH6
(A1912V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(R1911Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYH6
(R1911W)
Single nucleotide variant
(missense variant)
MYH6-related disorder
+1 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
MYH6
(D1906E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
MYH6
(D1906Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
(L1905P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(E1904Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(E1904K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(Q1902H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1900N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYH6
(R1899H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
(R1899C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(F1898L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(F1898L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYH6
(F1898L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(F1898V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(K1897R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYH6
(S1896F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(T1893A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
(N1892Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(E1889D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(E1888Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(E1888K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
+1 more
GConflicting classifications of pathogenicity
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
+4 more
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
MYH6
(A1887V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+8 more
GUncertain significance
MYH6
(E1886K)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+5 more
GUncertain significance
MYH6
(E1885G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYH6
(E1885K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MYH6
(Q1883L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(Q1883*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(R1882L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(R1882H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
MYH6
(R1882C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
MYH6
(K1881R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GConflicting classifications of pathogenicity
MYH6
(A1879T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYH6
(K1878E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH6
(V1877I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
MYH6
(K1876N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(K1876R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
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