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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A6
(R1295*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
COL6A6
(G1434*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity