LAMC2, laminin subunit gamma 2, 3918
N. diseases: 602; N. variants: 66
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 183215467 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 1994 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 183222181 | stop gained | C/T | snv | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2002 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 183243172 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 183225719 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 1994 | 1994 | ||||||||
|
0.925 | 0.080 | 1 | 183243272 | stop gained | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 183236593 | stop gained | C/G;T | snv | 6.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.080 | 1 | 183231028 | frameshift variant | GC/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 1 | 183243192 | frameshift variant | GAAGCTTTCCCGAGCCAAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 1 | 183243228 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 1 | 183243203 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.080 | 1 | 183222115 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 1 | 183232331 | frameshift variant | TTTCAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 1 | 183227698 | splice donor variant | G/T | snv | 4.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 183223248 | frameshift variant | GG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183235662 | frameshift variant | CTGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183218489 | splice donor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183220880 | stop gained | -/AA | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183232186 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183232298 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183236542 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183207932 | frameshift variant | GACA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183239420 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183240116 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183207945 | frameshift variant | -/ATGGA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 183228564 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 |