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Links from MedGen

Items: 1 to 100 of 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
Single nucleotide variant
(intron variant)
Infantile cortical hyperostosis
+5 more
GUncertain significance
COL1A2
(G1093C)
Single nucleotide variant
(missense variant)
COL1A2-related condition
GLikely pathogenic
COL1A1
(G953V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
(C1195S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A1
(G941S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
(G952S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A1
(D1451fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A1
(E1294fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A1
(G1040A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
(R671del)
Indel
(inframe_deletion)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
(G340R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G388E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
COL1A2
(G544A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
(G511S)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+5 more
GPathogenic
COL1A1
(A1387T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
+1 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type III
+1 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, cardiac valvular type
+5 more
GLikely pathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, cardiac valvular type
+8 more
GLikely benign
COL1A2
(G772R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
(G763D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+4 more
GPathogenic/Likely pathogenic
COL1A1
(P556fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+7 more
GPathogenic
COL1A1
(G1022C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G721C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A2
Deletion
(inframe_deletion)
Osteogenesis imperfecta type III
GUncertain significance
COL1A1
Duplication
(inframe_insertion)
Osteogenesis imperfecta type III
GUncertain significance
COL1A1
(G521*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type III
+1 more
GPathogenic/Likely pathogenic
COL1A1
(Q393*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, arthrochalasis type
+8 more
GPathogenic/Likely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type III
+9 more
GBenign/Likely benign
COL1A1
(D97fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+8 more
GPathogenic
COL1A1
(G701S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
+2 more
GPathogenic/Likely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
+7 more
GUncertain significance
COL1A1
(G365V)
Single nucleotide variant
(missense variant)
COL1A1-related condition
+5 more
GPathogenic/Likely pathogenic
COL1A1
(G154fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GPathogenic
COL1A2
(R948C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, cardiac valvular type
+8 more
GUncertain significance
COL1A2
(D939N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL1A1
(G695fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type III
+2 more
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+8 more
GBenign/Likely benign
COL1A1
(R120*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GLikely benign
COL11A1
(G1091S +3 more)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type III
GUncertain significance
COL5A2
(L1392I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
SLC34A1
(G53fs)
Indel
(frameshift variant)
Osteogenesis imperfecta type III
GLikely pathogenic
BMP1
(I405M)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type III
GUncertain significance
FKBP10
Duplication
(inframe_insertion)
Osteogenesis imperfecta type III
GLikely pathogenic
FKBP10
(T342fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type III
GLikely pathogenic
FKBP10
(L258R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
COL1A2
(G253R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
WNT1
(W167C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
+1 more
GConflicting classifications of pathogenicity
BMP1
(S306R)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type III
GUncertain significance
FKBP10
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type III
GLikely pathogenic
P3H1
(V661fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type III
GLikely pathogenic
P3H1
(L711fs)
Duplication
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 8
+1 more
GPathogenic/Likely pathogenic
SERPINF1
(E104del +1 more)
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta type III
GUncertain significance
SERPINF1
Deletion
(inframe_deletion)
Osteogenesis imperfecta type III
GUncertain significance
SERPINF1
(L208del +1 more)
Deletion
(inframe_deletion)
Osteogenesis imperfecta type III
+1 more
GConflicting classifications of pathogenicity
COL1A2
(P812S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
COL1A2
Duplication
(splice acceptor variant)
Osteogenesis imperfecta type I
+2 more
GConflicting classifications of pathogenicity
COL1A2
(G538D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
+5 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
+5 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
+5 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+5 more
GBenign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type III
+5 more
GBenign
COL1A1
(G425S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL1A2
(G448R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+7 more
GPathogenic/Likely pathogenic
COL1A2
(G802V)
Single nucleotide variant
(missense variant)
Ehlers-danlos syndrome, arthrochalasia type, 2
+4 more
GLikely pathogenic
COL1A2
(G415V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GUncertain significance
COL1A1
(G377fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type III
+4 more
GPathogenic
COL1A2
(G376V)
Single nucleotide variant
(missense variant)
Osteoporosis
+8 more
GPathogenic
COL1A1
(D1332N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
+8 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
not provided
+9 more
GUncertain significance
COL1A2
Insertion
(inframe_insertion)
Osteogenesis imperfecta type III
GUncertain significance
COL1A2
(R224H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+9 more
GConflicting classifications of pathogenicity
COL1A2
(C18R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GUncertain significance
COL1A2
(R948H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+10 more
GUncertain significance
COL1A2
(G412V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GLikely pathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+10 more
GConflicting classifications of pathogenicity
COL1A1
Single nucleotide variant
(intron variant)
Infantile cortical hyperostosis
+8 more
GLikely benign
COL1A1
(G1166fs)
Deletion
(frameshift variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
+8 more
GPathogenic
COL1A2
(G328S)
Single nucleotide variant
(missense variant)
Postmenopausal osteoporosis
+8 more
GPathogenic
COL1A2
(I954T)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+11 more
GBenign/Likely benign
COL1A2
(V416I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL1A2
(G358S)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+9 more
GPathogenic
COL1A1
(R970fs)
Microsatellite
(frameshift variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A1
(A868T)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
COL1A1
(A390T)
Single nucleotide variant
(missense variant)
Infantile cortical hyperostosis
+11 more
GBenign/Likely benign
COL1A1
(G329R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
+7 more
GPathogenic/Likely pathogenic
COL1A1
(R1399H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+8 more
GConflicting classifications of pathogenicity
COL1A1
(G788S)
Single nucleotide variant
(missense variant)
COL1A1-related condition
+8 more
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
not specified
+11 more
GUncertain significance
COL1A1
(G1148D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
Deletion
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G331D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G1030A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G1003D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G973V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
COL1A2
(G646V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+7 more
GPathogenic/Likely pathogenic
COL1A2
(R423H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL1A2
(G388R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type III
GPathogenic
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