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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
Single nucleotide variant
(intron variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+1 more
GConflicting classifications of pathogenicity
COL1A2
(G280S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+7 more
GPathogenic
COL1A2
(G292S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+3 more
GPathogenic
COL1A2
(V317I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+4 more
GUncertain significance
COL1A2
(G340R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(A425T)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
GUncertain significance
COL1A2
(G526R)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+5 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A2
(A1119T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+1 more
GPathogenic/Likely pathogenic
COL1A2
(C1195R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+3 more
GPathogenic/Likely pathogenic
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