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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(G292V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A1
(Q545*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic type, 1
GLikely pathogenic
COL5A1
Deletion
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
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