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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861898, MYH7
(R869C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(A797T)
Single nucleotide variant
(missense variant)
MYH7-related skeletal myopathy
+18 more
GPathogenic/Likely pathogenic
MYH7
(A649V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely pathogenic
MYH7
(N555S)
Single nucleotide variant
(missense variant)
MYH7-related disorder
+1 more
GConflicting classifications of pathogenicity
MYH7
(F540L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
MYH7
(E535Q)
Single nucleotide variant
(missense variant)
MYH7-related disorder
GLikely pathogenic
MYH7
(R403W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
MYH7
(R369Q)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
MYH7
(R249Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+9 more
GPathogenic/Likely pathogenic
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