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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
Single nucleotide variant
(splice donor variant)
See cases
GPathogenic
COL3A1
(A872P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(G1077S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
COL3A1
(R1434H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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