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Links from MedGen

Items: 1 to 100 of 3105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(R910H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
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, LOC126862586
(N295K)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
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, LOC126862586
(P249H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(T1234I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(L10P)
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, LOC126862586
Single nucleotide variant
(intron 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
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
(G1340C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(D562G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(W1275C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely pathogenic
COL1A1
(S1393T)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R1111H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
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
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(P997S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
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
(P1318A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(I405M)
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
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(R1227C)
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
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(P1182H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(A1349D)
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
(synonymous variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GBenign
COL1A1
(A858V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R187H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
Duplication
(inframe_insertion)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(P1054L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(A517G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(A402V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(R370L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(S720N)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(synonymous 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
Deletion
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1, LOC126862586
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(P153S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1, LOC126862586
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(G151R)
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
(G437A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G461fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R1093fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(T948A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R1257H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(M580I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(I1439M)
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
(P504L)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1, LOC126862586
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(S3R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Deletion
(inframe_deletion)
Osteogenesis imperfecta type I
GLikely pathogenic
COL1A1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(R528S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GLikely benign
COL1A1
(D168E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GUncertain significance
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