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Links from MedGen

Items: 1 to 100 of 375

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114827850, MYL2
Single nucleotide variant
(intron variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Deletion
(intron variant)
Hypertrophic cardiomyopathy 10
GBenign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
+1 more
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(V113L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(D22V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(F123L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
(N14I)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
(F21S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(A93P +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
(K7fs)
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(R58G +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
(E9D +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Duplication
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Duplication
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Deletion
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Deletion
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(P130L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
(A35T +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(V135F +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Deletion
(splice donor variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Insertion
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Deletion
(intron variant)
Hypertrophic cardiomyopathy 10
GBenign
MYL2
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 10
+1 more
GConflicting classifications of pathogenicity
MYL2
(D117*)
Duplication
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(T34N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(V132L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(splice acceptor variant +1 more)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(F123I +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
(G87R +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
(V17fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(E69A +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(K151E +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
(P76L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(S131T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
MYL2
(P60R +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
(F130Y +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 10
+1 more
GLikely benign
MYL2
(A140V +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
(Q118* +2 more)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 10
GUncertain significance
LOC114827850, MYL2
(P3S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
MYL2
(I159T +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
+1 more
GUncertain significance
LOC114827850, MYL2
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 10
+1 more
GLikely benign
MYL2
(E145K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MYL2
(M69L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
+2 more
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Indel
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GLikely benign
MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 10
GLikely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 10
GUncertain significance
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