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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861898, MYH7
(R870H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
LOC126861898, MYH7
(R858C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+10 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(M852I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(A797T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+18 more
GPathogenic/Likely pathogenic
LOC126861898, MYH7
(R793Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126861898, MYH7
(R783H)
Single nucleotide variant
(missense variant)
Myosin storage myopathy
+9 more
GConflicting classifications of pathogenicity
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