U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 3496

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
(P141fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GLikely pathogenic
COL1A1
(G587A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely pathogenic
COL1A1
Variation
(no sequence alteration)
Osteogenesis imperfecta type I
+3 more
GPathogenic
COL1A1
(A1060fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GLikely pathogenic
COL1A1, LOC126862586
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(E1401*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type I
+3 more
GLikely pathogenic
COL1A1
(P894S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1, LOC126862586
Deletion
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(S720I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(P147S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(K612N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(I1350M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(K430M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(D104N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(G815fs)
Indel
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R1246Q)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GBenign
COL1A1
(P496L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(M729V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R994C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(G1272E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(L480V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(P1161T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(A637D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(D831N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A2
(M93T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G33V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(K1157E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(A260T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(N1274K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(Q1207H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(G685C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(I1211M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(Q1083H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(P116S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(V1245M)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(G769S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(P1076H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Deletion
(splice acceptor variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
(G502D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
(R1067L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Duplication
(splice acceptor variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G109R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GLikely pathogenic
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(P138S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(D82G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G298V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(D37G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(G1325E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Microsatellite
(splice donor variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(T1148I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(P296H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(V837I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
(P297L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
(R822C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
+1 more
GLikely benign
COL1A2
Duplication
(inframe_insertion)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(R777del)
Deletion
(inframe_deletion)
Osteogenesis imperfecta type I
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination