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Links from MedGen

Items: 1 to 100 of 1635

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH6
(L987P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1485N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1365R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(L269fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1026N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Deletion
(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
(E1003D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(E1885G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC114827851, MYH6
(V125L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K804R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(G215V)
Single nucleotide variant
(missense variant)
MYH6-related disorder
+1 more
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 14
+1 more
GUncertain significance
LOC126861896, MYH6
(E1710D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC114827851, MYH6
(R17H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Indel
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(T627N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(M934V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(A356S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(E983K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
LOC126861896, MYH6
(T1607I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(A332T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC126861896, MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(I357T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(A551fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Deletion
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(R723K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC114827851, MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GBenign
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
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
LOC114827851, MYH6
(D74E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(D555del)
Deletion
(inframe_deletion)
Hypertrophic cardiomyopathy 14
GUncertain significance
LOC126861896, MYH6
(S1602A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(C478W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K1218T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
LOC114827851, MYH6
Deletion
(intron variant)
Hypertrophic cardiomyopathy 14
GBenign
LOC114827851, MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(E848K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(M547T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(L1469M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(H359Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(L1345P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GPathogenic
MYH6
(M1935I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(T667A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(N1892Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 14
GLikely benign
LOC126861896, MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(E1468D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(T1184A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Duplication
(splice donor variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(E505Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Deletion
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(D1049E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(V1409A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(I787M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(R1834L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(E536Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
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
Insertion
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Indel
(intron variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6, LOC114827851
(F103C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
(K878del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 14
GUncertain significance
MYH6
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 14
GLikely benign
MYH6
(D1401N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
GUncertain significance
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