U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH7
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1S
+9 more
GConflicting classifications of pathogenicity
MYH7
(E1772K)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+4 more
GUncertain significance
LOC126861897, MHRT
+1 more
(R1634H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+10 more
GUncertain significance
MYH7
(R1420W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
MYH7
(R1277P)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+4 more
GUncertain significance
MYH7
(E930Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+9 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(R858C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+10 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(A797T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+18 more
GPathogenic/Likely pathogenic
MYH7
(V606M)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+9 more
GPathogenic/Likely pathogenic
MYH7
(A381T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(R369Q)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
MYH7
Deletion
(splice donor variant)
Hypertrophic cardiomyopathy 1
+5 more
GPathogenic/Likely pathogenic
MYH7
(Q209K)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+6 more
GUncertain significance
MYH7
(R204H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
MYH7
(G181R)
Single nucleotide variant
(missense variant)
Myopathy, myosin storage, autosomal recessive
+9 more
GConflicting classifications of pathogenicity
MYH7
Single nucleotide variant
(splice donor variant)
MYH7-related skeletal myopathy
+8 more
GUncertain significance
MYH7
(R17C)
Single nucleotide variant
(missense variant)
MYH7-related skeletal myopathy
+8 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination