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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL1
(M1fs)
Duplication
(frameshift variant +1 more)
MYL1-related disorder
+2 more
GBenign
MYL1
(M163R +1 more)
Single nucleotide variant
(missense variant)
Congenital myopathy with reduced type 2 muscle fibers
GLikely pathogenic
MYL1
Single nucleotide variant
(splice acceptor variant)
Congenital myopathy with reduced type 2 muscle fibers
GPathogenic
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