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Links from MedGen

Items: 1 to 100 of 370

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH7
(F494L)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
GUncertain significance
MYH7
(E1772K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+4 more
GUncertain significance
MHRT, LOC126861897
+1 more
Single nucleotide variant
(intron variant)
Myosin storage myopathy
GLikely pathogenic
MYH7
Single nucleotide variant
(splice donor variant)
Myosin storage myopathy
GLikely pathogenic
MYH7
Single nucleotide variant
(intron variant)
Myosin storage myopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(N1725del)
Deletion
(non-coding transcript variant +2 more)
Myosin storage myopathy
GUncertain significance
MYH7
(E1787D)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(E1564A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myosin storage myopathy
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
MHRT, MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYH7
(M90V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
LOC126861898, MYH7
(S851T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
MYH7
(S948L)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+6 more
GUncertain significance
MYH7
(Q1005E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
MYH7
(T1891I)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+6 more
GUncertain significance
MYH7
(R23Q)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+7 more
GUncertain significance
MYH7
(A627S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
LOC126861897, MHRT
+1 more
(N1679K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
+8 more
GUncertain significance
LOC126861898, MYH7
(E779K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYH7
(A326T)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+8 more
GUncertain significance
MYH7
(N1824D)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
MHRT, MYH7
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1S
+7 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(intron variant)
Myopathy, myosin storage, autosomal recessive
+4 more
GBenign
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
+6 more
GLikely benign
MYH7
Single nucleotide variant
(synonymous variant)
Myosin storage myopathy
+6 more
GLikely benign
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+6 more
GLikely benign
MYH7
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GLikely benign
MYH7
(G1036E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+8 more
GUncertain significance
MYH7
(P630T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(L1010F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
MYH7
(D3E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+7 more
GUncertain significance
MYH7
(M300T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
MYH7
(A26T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
MYH7
Single nucleotide variant
(splice donor variant)
not specified
+8 more
GUncertain significance
MYH7
Single nucleotide variant
(splice donor variant)
Myosin storage myopathy
GLikely pathogenic
MHRT, LOC126861897
+1 more
(A1660P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myosin storage myopathy
GUncertain significance
MHRT, MYH7
(M1429del)
Deletion
(non-coding transcript variant +1 more)
Myosin storage myopathy
GUncertain significance
MYH7
(A1241S)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+3 more
GUncertain significance
MYH7
(A1197T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
MYH7
(Q1237H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MHRT, LOC126861897
+1 more
(S1607G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myopathy with fiber type disproportion
+7 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH7
(D42N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+7 more
GConflicting classifications of pathogenicity
MHRT, MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+9 more
GBenign/Likely benign
MYH7
(M1067T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+8 more
GUncertain significance
MYH7
Indel
(splice acceptor variant)
Myopathy, myosin storage, autosomal recessive
+7 more
GUncertain significance
MYH7
(T1891A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GUncertain significance
MYH7
(Q1098H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
LOC126861897, MHRT
+1 more
(A1632T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+10 more
GUncertain significance
MYH7
(K940M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Myopathy, myosin storage, autosomal recessive
+7 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+8 more
GLikely benign
MYH7
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(A893T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
MYH7
(R1863W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+8 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+4 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+6 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(E1696G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1S
+3 more
GUncertain significance
LOC126861898, MYH7
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1S
+5 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+3 more
GUncertain significance
MYH7
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1S
+3 more
GUncertain significance
LOC126861897, MHRT
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYH7
(K994R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+5 more
GUncertain significance
MHRT, MYH7
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1S
+3 more
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1S
+4 more
GConflicting classifications of pathogenicity
MYH7
(M1046R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GUncertain significance
MYH7
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+8 more
GUncertain significance
MYH7
(S1037Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
MYH7
(I713V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GUncertain significance
MHRT, MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYH7
(A1153T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
MHRT, MYH7
(E1548V)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+7 more
GUncertain significance
MYH7
(R1909W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Myosin storage myopathy
+5 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+9 more
GBenign/Likely benign
MYH7
(R1289Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GUncertain significance
MYH7
(F312L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+4 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(A1586T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Conduction disorder of the heart
+8 more
GUncertain significance
MYH7
(D1077Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
MHRT, MYH7
(E1480D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+8 more
GUncertain significance
MYH7
(N1824G)
Indel
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
MYH7
(S1366L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GUncertain significance
MYH7
(M922T)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+6 more
GConflicting classifications of pathogenicity
MYH7
(N911Y)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
MYH7
(R1796W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GUncertain significance
MYH7
(G181R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126861897, MHRT
+1 more
(R1592Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1S
+7 more
GUncertain significance
MYH7
(D685fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+8 more
GUncertain significance
MYH7
(A1913T)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
MYH7
(L329F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH7
(R1820G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
LOC126861898, MYH7
(M852I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+8 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(synonymous variant)
MYH7-related skeletal myopathy
+6 more
GConflicting classifications of pathogenicity
MYH7
(E500del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy
GUncertain significance
LOC126861898, MYH7
(E861G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
MYH7
(R1260Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
MYH7
(I591T)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
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