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Links from MedGen

Items: 1 to 100 of 256

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH6
(N1367S)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
GUncertain significance
MYH6
(D1316N)
Single nucleotide variant
(missense variant)
MYH6-related cardiac defects
+2 more
GUncertain significance
MYH6
Single nucleotide variant
(splice donor variant)
Atrial septal defect 3
GUncertain significance
LOC114827851, MYH6
(N160D)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+2 more
GUncertain significance
MYH6
(G1156S)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+1 more
GUncertain significance
MYH6
(L1852P)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
GUncertain significance
MYH6
(R673H)
Single nucleotide variant
(missense variant)
MYH6-related disorder
+1 more
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1EE
+5 more
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GUncertain significance
MYH6
(R654Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
LOC114827851, MYH6
(Y109H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+5 more
GLikely benign
LOC126861896, MYH6
Single nucleotide variant
(intron variant)
Atrial septal defect 3
+4 more
GLikely benign
MYH6
(R1798W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYH6
(Q1092E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(E498K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
LOC114827851, MYH6
(K207del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC114827851, MYH6
(R54W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
LOC114827851, MYH6
(E137K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(A682S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
MYH6
(K1876N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LOC126861896, MYH6
(D1668H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
(V1233I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
LOC126861896, MYH6
(S1598L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
LOC114827851, MYH6
(K67N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
(E1188K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
LOC114827851, MYH6
(P82S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(R1384Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(Q1466E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(M547V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
(R1252Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(Q367L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
(R906H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+7 more
GConflicting classifications of pathogenicity
MYH6
(A260V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(M984T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+6 more
GLikely benign
MYH6
(A895V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(R1143W)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+5 more
GUncertain significance
MYH6
(R1291W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
(K235R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
(T1499N)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1EE
+4 more
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
MYH6
(A845T)
Single nucleotide variant
(missense variant)
MYH6-related disorder
+6 more
GUncertain significance
MYH6
(E1827D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
MYH6
(A348T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(L1781M)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 3, susceptibility to
+4 more
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
(R1820Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(E1818Q)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+1 more
GUncertain significance
LOC114827851, MYH6
(M165L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
(E526D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Atrial septal defect 3
+1 more
GConflicting classifications of pathogenicity
LOC126861896, MYH6
(R1691C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
(M363T)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
+5 more
GUncertain significance
LOC114827851, MYH6
(M90V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
(E508V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1EE
+4 more
GUncertain significance
MYH6
(I1096T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYH6
(E1491K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(R800H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
MYH6
(A1440P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
(E869K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LOC114827851, MYH6
(R143W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+5 more
GUncertain significance
MYH6
(E380K)
Single nucleotide variant
(missense variant)
MYH6-related disorder
+5 more
GUncertain significance
LOC114827851, MYH6
(R190H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+6 more
GUncertain significance
LOC126861896, MYH6
(E1584K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYH6
(K597N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
LOC114827851, MYH6
(E64K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
MYH6
(T995S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
LOC114827851, MYH6
(L24P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+6 more
GUncertain significance
LOC126861896, MYH6
(R1562L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
+4 more
GConflicting classifications of pathogenicity
LOC114827851, MYH6
(T68M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(R244C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
MYH6
(A1193V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(N1450T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
LOC126861896, MYH6
(N1625S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+6 more
GUncertain significance
MYH6
(R1834H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(T442M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
MYH6
(V314M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+4 more
GUncertain significance
MYH6
(D395E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(L1106I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYH6
(R1116C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+6 more
GUncertain significance
MYH6
(S1301L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+4 more
GUncertain significance
MYH6
(A1760T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+7 more
GUncertain significance
MYH6
(E960K)
Single nucleotide variant
(missense variant)
Atrial septal defect 3
GUncertain significance
MYH6
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
MYH6
(R1865W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MYH6
(N598fs)
Duplication
(frameshift variant)
Atrial septal defect 3
+4 more
GUncertain significance
MYH6
(V1362I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+5 more
GUncertain significance
MYH6
(I753T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+5 more
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1EE
+6 more
GUncertain significance
MYH6
(R1398W)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1EE
+6 more
GUncertain significance
MYH6
(V730A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYH6
(Y288*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GUncertain significance
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