| Osteogenesis imperfecta type 3 |
216812 |
BMP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CREB3L1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta type III (disorder) |
C0268362 |
BMP1
|
Causal
Pathogenic evidence from ClinVar
|
22052668 |
ClinVar |
|
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
1770532, 2037280, 2511192, 2794057, 7691343, 7881420, 8019571, 8100209, 8364588, 8456809, 8669434, 8723681, 9101304, 10408781, 16879195, 18670065, 21438135, 25944380 |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
1990009, 7520724, 7720740, 7749416, 7860070, 7881420, 8081394, 8444468, 8456807, 8723681, 8800927, 8829649, 10408781, 16786509, 16879195, 21438135, 25944380 |
ClinVar |
|
CREB3L1
|
Causal
Pathogenic evidence from ClinVar
|
24079343 |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
21438135 |
ClinVar |
|
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
21438135, 25046257 |
ClinVar |
|
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
21438135 |
ClinVar |
| OSTEOGENESIS IMPERFECTA, TYPE XIII |
C3553887 |
BMP1
|
Causal
Pathogenic evidence from ClinVar
|
22052668, 22482805, 25402547, 28513615 |
ClinVar |
| Osteogenesis Imperfecta |
C0029434 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
8757037, 17078022, 25963598, 26712438 |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CREB3L1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
18566967 |
ClinVar |
|
MESD
|
Causal
Pathogenic evidence from ClinVar
|
31564437 |
ClinVar |
|
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
18566967 |
ClinVar |
|
PLOD2
|
Causal
Pathogenic evidence from ClinVar
|
22689593 |
ClinVar |
| Osteogenesis imperfecta type 1 |
216796 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta type 2 |
216804 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta type 4 |
216820 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta type IV (disorder) |
C0268363 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
1770532, 1988452, 2745420, 7691343, 7982948, 8094076, 8339541, 9600458, 16786509, 16879195, 17875077, 21438135, 25944380 |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
1642148, 2052622, 2064612, 2897363, 7693712, 8094076, 8401517, 8800927, 16786509, 16879195, 21438135, 25944380 |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
21438135 |
ClinVar |
|
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
21438135, 25046257 |
ClinVar |
| Osteogenesis imperfecta, dominant perinatal lethal |
C0268358 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
1460047, 1511982, 1613761, 1874719, 1939261, 1953667, 2035536, 2036375, 2037280, 2116413, 2211725, 2339700, 2470760, 2777764, 2794057, 2913053, 3016737, 3108247, 3403550, 3667599, 7520724, 7679635, 7691343, 7961597, 8100209, 8349697, 8349698, 8364588, 8456808, 8786074, 9143923, 10627137, 16566045, 16786509, 18670065, 18996919, 21438135, 25958000 |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
1284475, 1339453, 1385413, 1874719, 2777764, 2914942, 7693712, 7891382, 7906591, 7959683, 8182080, 10627137, 16786509, 16879195, 18996919, 21438135 |
ClinVar |
|
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
21438135 |
ClinVar |
|
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
21438135 |
ClinVar |
| Osteogenesis imperfecta, recessive perinatal lethal |
C0268360 |
COL1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL1A2
|
Causal
Pathogenic evidence from ClinVar
|
26938784 |
ClinVar |
| OSTEOGENESIS IMPERFECTA, TYPE XVI |
C4015610 |
CREB3L1
|
Causal
Pathogenic evidence from ClinVar
|
30657919 |
ClinVar |
| Osteogenesis Imperfecta Type VII |
C1853162 |
CRTAP
|
Causal
Pathogenic evidence from ClinVar
|
17055431, 18566967, 18996919, 19550437, 21955071 |
ClinVar |
| OSTEOGENESIS IMPERFECTA, TYPE XI |
C3151218 |
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
27362741 |
ClinVar |
| OSTEOGENESIS IMPERFECTA, TYPE XII |
C3151433 |
FKBP10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta type 5 |
216828 |
IFITM5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Osteogenesis imperfecta, type 5 |
C2931093 |
IFITM5
|
Causal
Pathogenic evidence from ClinVar
|
22863190, 22863195, 24519609, 25046257 |
ClinVar |
| OSTEOGENESIS IMPERFECTA, TYPE XIX |
C4746956 |
MBTPS2
|
Causal
Pathogenic evidence from ClinVar
|
27380894 |
ClinVar |
| Osteogenesis imperfecta, type VIII |
C1970458 |
P3H1
|
Causal
Pathogenic evidence from ClinVar
|
17277775, 19088120, 22281939, 27509835, 29150909 |
ClinVar |
