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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(G109D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
COL1A2
(G193S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL1A2
(G265R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G265D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G286S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G292S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+3 more
GPathogenic
COL1A2
(G331D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G337S)
Single nucleotide variant
(missense variant)
COL1A2-related disorder
+9 more
GConflicting classifications of pathogenicity
COL1A2
(G388R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G391S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
COL1A2
(R423H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL1A2
(G469A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
GPathogenic
COL1A2
(G601S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+5 more
GPathogenic
COL1A2
(G646V)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+7 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GPathogenic
COL1A2
(G973V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G1003D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G1012S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+8 more
GPathogenic/Likely pathogenic
COL1A2
(G1030A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G1036R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GPathogenic
COL1A2
(G1102C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A2
Deletion
Osteogenesis imperfecta type III
GPathogenic
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