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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMC2, LOC126805948
(W5*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LAMC2
(R170*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
LAMC2
(H205R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMC2
(R347C)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LAMC2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
LAMC2
(K974del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
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