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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL2
(E134A)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
MYH7
(A1777T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126861897, MHRT
+1 more
(R1712Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
MYH7
(D1230E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
GUncertain significance
LOC126861898, MYH7
(A797T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+18 more
GPathogenic/Likely pathogenic
MYH7
(R442H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
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