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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL1
(M1T)
Single nucleotide variant
(missense variant +2 more)
MYL1-related disorder
GLikely benign
MYL1
Single nucleotide variant
(5 prime UTR variant +1 more)
MYL1-related disorder
GLikely benign
MYL1
Single nucleotide variant
(synonymous variant)
MYL1-related disorder
GLikely benign
MYL1
(V11A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MYL1
(M1fs)
Duplication
(frameshift variant +1 more)
MYL1-related disorder
GLikely benign
MYL1
(M1fs)
Duplication
(frameshift variant +1 more)
MYL1-related disorder
+2 more
GBenign
MYL1
(M1fs)
Deletion
(frameshift variant +1 more)
MYL1-related disorder
GBenign
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