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Items: 1 to 100 of 4861

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
AP1G2, AP1G2-AS1
+45 more
Copy number gain
See cases
GUncertain significance
LOC114827851, LOC126861897
+4 more
Duplication
Myosin, cardiac, heavy chain variant
GPathogenic
LOC114827851, LOC126861897
+4 more
Duplication
Hypertrophic cardiomyopathy
GUncertain significance
LOC114827851, MYH6
+1 more
Copy number loss
See cases
Gconflicting data from submitters
MYH6, MHRT
+4 more
Duplication
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
LOC114827851, MYH6
+1 more
Copy number gain
See cases
GUncertain significance
LOC114827851, MYH6
+1 more
Single nucleotide variant
(5 prime UTR variant)
MYH7-related skeletal myopathy
+7 more
GBenign/Likely benign
LOC114827851, MYH7
Single nucleotide variant
Hypertrophic cardiomyopathy
+5 more
GLikely benign
MYH7
Single nucleotide variant
not provided
GBenign
MYH7
Single nucleotide variant
not provided
GBenign
LOC126861897, MHRT
+2 more
Deletion
Primary dilated cardiomyopathy
GLikely pathogenic
MYH6, MYH7
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal myopathy
+8 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(3 prime UTR variant)
Scapuloperoneal myopathy
+7 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(3 prime UTR variant)
Myosin storage myopathy
+3 more
GUncertain significance
MYH7
Deletion
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(3 prime UTR variant)
not provided
+8 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MYH7
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(stop lost)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYH7
(E1934K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYH7
(N1933I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(N1933S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
MYH7
(N1933H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
MYH7
Deletion
(splice acceptor variant)
Cardiovascular phenotype
GUncertain significance
MYH7
Indel
(splice acceptor variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
MYH7-related disorder
GLikely benign
MYH7
Duplication
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7
Duplication
(intron variant)
not provided
GLikely benign
MYH7
Deletion
(intron variant)
not provided
GBenign
MYH7
Deletion
(intron variant)
not provided
GBenign
MYH7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
not provided
GBenign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
MYH7
Deletion
(splice donor variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(K1930T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+8 more
GConflicting classifications of pathogenicity
MYH7
(T1929M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MYH7
(G1928S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
(I1927F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MYH7
(R1925H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GUncertain significance
MYH7
(R1925G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
MYH7
(R1925C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
MYH7
(S1924T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(S1924I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
(S1924fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 4
+3 more
GConflicting classifications of pathogenicity
MYH7
(K1923E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
MYH7
(A1922V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
(R1921P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH7
(R1921Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
MYH7
(R1921G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(R1921W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
GLikely benign
MYH7
(K1919N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
MYH7
(N1918del)
Microsatellite
(inframe_deletion)
See cases
GUncertain significance
MYH7
(N1918K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MYH7
(N1918K)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 5
GPathogenic
MYH7
(V1917F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MYH7
(Q1916H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
MYH7
Deletion
(inframe_deletion)
not provided
GUncertain significance
MYH7
(Q1916*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYH7
(S1915C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
Indel
(inframe_indel)
Primary dilated cardiomyopathy
GLikely pathogenic
MYH7
(E1914D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
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