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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1, LOC126862586
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+7 more
GBenign/Likely benign
COL1A1, LOC126862586
(G299fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL1A1, LOC126862586
(P247L)
Single nucleotide variant
(missense variant)
COL1A1-related condition
+4 more
GConflicting classifications of pathogenicity
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