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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+5 more
GUncertain significance
COL1A1
Single nucleotide variant
(splice donor variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
GLikely pathogenic
COL1A1
(G115E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(G188C)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
GLikely pathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
+1 more
GPathogenic
COL1A1
(P556fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+7 more
GPathogenic
COL1A1, LOC126862586
(E288K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A1
(Q393*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta, perinatal lethal
+8 more
GPathogenic/Likely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+9 more
GBenign/Likely benign
COL1A1
(D97fs)
Deletion
(frameshift variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
+8 more
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+8 more
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+8 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+10 more
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+10 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, perinatal lethal
+8 more
GLikely benign
COL1A1
Single nucleotide variant
(splice donor variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
+2 more
GPathogenic
COL1A1
(G1166fs)
Deletion
(frameshift variant)
not provided
+8 more
GPathogenic
COL1A1
(A868T)
Single nucleotide variant
(missense variant)
Osteoporosis
+9 more
GConflicting classifications of pathogenicity
COL1A1
(A390T)
Single nucleotide variant
(missense variant)
Osteoporosis
+11 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+11 more
GUncertain significance
LOC126862586, COL1A1
(G257R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, perinatal lethal
+10 more
GPathogenic
COL1A1
(G188D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
COL1A1
(R415*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta, perinatal lethal
+8 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta, perinatal lethal
+7 more
GPathogenic
COL1A1
Duplication
(intron variant)
not provided
+8 more
GBenign/Likely benign
COL1A1
(R1066C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+2 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+9 more
GBenign/Likely benign
COL1A1
(A1075T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+8 more
GBenign
COL1A1
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta
+4 more
GPathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GBenign/Likely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+10 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
not provided
+11 more
GBenign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+13 more
GBenign/Likely benign
COL1A1
(R1093C)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
+9 more
GUncertain significance
COL1A1
(R1026*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta with normal sclerae, dominant form
+10 more
GPathogenic
COL1A1
(G191D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R312C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+12 more
GPathogenic/Likely pathogenic
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