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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(G109D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
COL1A2
(G193S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL1A2
(G265R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G265D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G286S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A2
(G292S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GPathogenic
COL1A2
(G337S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+9 more
GConflicting classifications of pathogenicity
COL1A2
(G391S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL1A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
COL1A2
(R423H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
COL1A2
(G601S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+5 more
GPathogenic
COL1A2
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GPathogenic
COL1A2
(G1012S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+8 more
GPathogenic/Likely pathogenic
COL1A2
(G1102C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(F1463fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(D1446fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(T1431I)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(D1413E)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(G1272V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic/Likely pathogenic
COL1A1
(M1264V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(K1263fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(S1251fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(Q1203*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G1190fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL1A1
(G1169S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type I
GUncertain significance
COL1A1
(V1078fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G1079S)
Single nucleotide variant
(missense variant)
COL1A1-related disorder
+2 more
GPathogenic
COL1A1
(G1076S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+4 more
GPathogenic/Likely pathogenic
COL1A1
(G1040S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
COL1A1
(P1009fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(S979fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(V961fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Deletion
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G866S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+3 more
GPathogenic
COL1A1
(G851fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A1
(P850fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G842fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G821S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
COL1A1
(G809fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta, perinatal lethal
+7 more
GPathogenic
COL1A1
(G719S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL1A1
(A699fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R697*)
Single nucleotide variant
(nonsense)
Postmenopausal osteoporosis
+7 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
+9 more
GPathogenic
COL1A1
(R598*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta with normal sclerae, dominant form
+3 more
GConflicting classifications of pathogenicity
COL1A1
(G560S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GPathogenic
COL1A1
(K538fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(P460fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GPathogenic
COL1A1
(G431fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G424fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(Q421fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R415*)
Single nucleotide variant
(nonsense)
Infantile cortical hyperostosis
+8 more
GPathogenic
COL1A1
(G401S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G377fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
COL1A1
(S363fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R361*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type I
+2 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G332R)
Single nucleotide variant
(missense variant)
Infantile cortical hyperostosis
+9 more
GPathogenic
COL1A1
(A327*)
Duplication
(nonsense)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(G326D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
LOC126862586, COL1A1
(G284A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1, LOC126862586
(G281S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1, LOC126862586
(G257R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+10 more
GPathogenic
COL1A1, LOC126862586
(G251D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(R220*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
COL1A1
(G197C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL1A1
(G194fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL1A1
(G188D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
COL1A1
(G154fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A1
(G145fs)
Duplication
(frameshift variant)
COL1A1-related disorder
+1 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(I38fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
PDK2, SGCA
+4 more
Deletion
Osteogenesis imperfecta type I
GPathogenic
Osteogenesis imperfecta type I
GLikely pathogenic
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