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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEC
(Q2098* +6 more)
Single nucleotide variant
(nonsense)
Abnormality of the musculature
GLikely pathogenic
PLEC
(Q1022* +6 more)
Single nucleotide variant
(nonsense)
Abnormality of the musculature
GLikely pathogenic
PLEC
(L184fs +6 more)
Deletion
(frameshift variant)
Abnormality of the skin
GLikely pathogenic
PLEC
Deletion
(inframe_deletion +2 more)
Abnormality of the musculature
GLikely pathogenic
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