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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GConflicting classifications of pathogenicity
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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