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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
Single nucleotide variant
(synonymous variant)
See cases
GUncertain significance
COL1A2
(G280C)
Single nucleotide variant
(missense variant)
Skeletal dysplasia
+2 more
GPathogenic/Likely pathogenic
COL1A2
(G625C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GLikely pathogenic
COL1A2
(Q1354*)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
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