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Links from MedGen

Items: 1 to 100 of 1262

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH7
(R1045S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7
(E269K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+3 more
GUncertain significance
MYH7
(Q1160H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
LOC126861898, MYH7
(M877L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7
(I457K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYLK2
(L291P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(R127S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(T49P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(P69S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(Y456C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(S184G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
+1 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(A32S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(K197N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(A32V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(D122V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(G589R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(A87fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(P38H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(H420Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(L564F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(Y473H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(K192N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(W499*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(E437K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(K288E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(T276S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(S480P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(G85R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(K55*)
Insertion
(nonsense)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(I424F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(M359T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(G37D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(T383I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(P48L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(M326I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Deletion
(stop lost +1 more)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(A191D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(E289A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MHRT, MYH7
(A1437P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myosin storage, autosomal recessive
+3 more
GLikely pathogenic
MYLK2
(M474V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYH7
(A196G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYH7
(Q1075E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYLK2
(G478S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+1 more
GUncertain significance
MYH7
(E1772K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+4 more
GUncertain significance
MYH7
(T761I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7B
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7
(S738R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7
(M528K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYH7
(R143G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
MYH7
(L1393P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GLikely pathogenic
MYLK2
(N434S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+1 more
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+1 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+1 more
GLikely benign
LOC126861898, MYH7
(K831E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(V356I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(L543fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(S225L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(D81E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(P29T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(A531T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(R340S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
+1 more
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(G135R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(N551D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+1 more
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Indel
(intron variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(T211N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(M465I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
(M220V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
MYLK2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 1
GLikely benign
MYLK2
(A513D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
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