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Links from MedGen

Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(G205D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Infantile cortical hyperostosis
+5 more
GUncertain significance
COL1A1
(G731D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G335V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(F1326C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A2
(G904R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(G511C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A1
(G1145V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G623S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
(G511S)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+5 more
GPathogenic
COL1A2
(G622V)
Single nucleotide variant
(missense variant)
COL1A2-related condition
GLikely pathogenic
COL1A2
(G634S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A2
(G403R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GPathogenic
COL1A2
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(G448E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G467R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely 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
(G979R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
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
COL1A2
(G904E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(F77fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A1
(G779V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G686S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(G544C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G431V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(G1045D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G1106C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(D1413G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, recessive perinatal lethal
+1 more
GPathogenic
COL1A2
(G388V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A2
(D1007N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
+3 more
GUncertain significance
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
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL1A1
Deletion
(splice donor variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A2
(G109V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(D97fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+8 more
GPathogenic
COL1A1
(G326R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic/Likely pathogenic
COL1A1
(T1431fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A2
(G451D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
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
(G692S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A1
(G335D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely pathogenic
COL1A2
(R948C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, cardiac valvular type
+8 more
GUncertain significance
COL1A2
(G769C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GPathogenic
COL1A1
(G641V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GPathogenic
COL1A1
(G704S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
+3 more
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+8 more
GBenign/Likely benign
COL1A2
(G679S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type
+1 more
GLikely pathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GLikely benign
COL1A1
(P1180T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely benign
COL1A1
(A414V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
GLikely benign
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
COL1A2
(G448R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+7 more
GPathogenic/Likely pathogenic
COL1A2
(G406S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G1102S)
Single nucleotide variant
(missense variant)
not provided
+1 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
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
COL1A2
(R224H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+9 more
GConflicting classifications of pathogenicity
COL1A2
(G460S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GPathogenic
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
(G526R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, recessive perinatal lethal
+5 more
GPathogenic/Likely 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
(G671fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+2 more
GPathogenic
COL1A2
(G199D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
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
(G316S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GPathogenic/Likely pathogenic
COL1A2
(I954T)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+11 more
GBenign/Likely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta, recessive perinatal lethal
+2 more
GPathogenic
COL1A2
(G358S)
Single nucleotide variant
(missense variant)
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
+9 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
(G338V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
not specified
+11 more
GUncertain significance
COL1A2
(G256V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G292S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GPathogenic
COL1A2
(G646V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+7 more
GPathogenic/Likely pathogenic
COL1A2
(G601S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GPathogenic
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