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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYPN
(Y20C)
Single nucleotide variant
(missense variant +2 more)
MYPN-related myopathy
+5 more
GConflicting classifications of pathogenicity
MYPN
(S243R)
Single nucleotide variant
(missense variant +2 more)
MYPN-related myopathy
+3 more
GUncertain significance
MYPN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
MYPN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
MYPN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
MYPN
(R597H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
MYPN
(P1112L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYPN
Single nucleotide variant
(synonymous variant +1 more)
MYPN-related condition
+4 more
GBenign/Likely benign
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