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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
(L1238fs)
Deletion
(frameshift variant)
Abnormal bone structure
GLikely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GConflicting classifications of pathogenicity
COL1A1
(P1167fs)
Deletion
(frameshift variant)
See cases
GPathogenic
COL1A1
(G1016E)
Single nucleotide variant
(missense variant)
Abnormality of bone mineral density
GLikely pathogenic
COL1A1
(G906S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GLikely benign
COL1A1
(G866S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+3 more
GPathogenic
COL1A1
(R763H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL1A1
(G365V)
Single nucleotide variant
(missense variant)
COL1A1-related condition
+5 more
GPathogenic/Likely pathogenic
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