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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114827851, MYH7
Single nucleotide variant
Hypertrophic cardiomyopathy
+5 more
GLikely benign
MYH7
Single nucleotide variant
(5 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GUncertain significance
MYH7
Single nucleotide variant
(5 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GUncertain significance
MYH7
(A150G)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+5 more
GUncertain significance
MYH7
Single nucleotide variant
(intron variant)
Left ventricular noncompaction cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYH7
(A990T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+6 more
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
MYH7
(A1828T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+6 more
GUncertain significance
MYH7
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
MYH6, MYH7
Single nucleotide variant
(3 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+8 more
GBenign/Likely benign
LOC114827851, MYH6
+1 more
Single nucleotide variant
(5 prime UTR variant)
Left ventricular noncompaction cardiomyopathy
+7 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(intron variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
MHRT, MYH7
(A1441S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Sudden unexplained death
+13 more
GUncertain significance
MYH7
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+8 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction cardiomyopathy
+8 more
GBenign/Likely benign
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GBenign
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GBenign
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