All individuals with variants in gene SERPINA1

178 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay 1 1 LOVD-team, but with Curator vacancy
00000003 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000006 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000007 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, CF - 2 1 LOVD-team, but with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism - 2 1 LOVD-team, but with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism - 2 1 LOVD-team, but with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - - - 3 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000032 - PubMed: Bell 2011 - - - - - - 0 - - GSD cardiomyopathy (HP:0001638); respiratory problems (HP:0002093) 1 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 3 1 LOVD-team, but with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 3 1 LOVD-team, but with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 LOVD-team, but with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000058 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000059 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000061 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - in vitro assay 1 1 LOVD-team, but with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - 3 1 LOVD-team, but with Curator vacancy
00000074 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 3 1 LOVD-team, but with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000079 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000080 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000083 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000084 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000093 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - 1 1 LOVD-team, but with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000098 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000100 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000107 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00046846 - PubMed: Curiel 1989, Journal: Curiel 1989 2-generation family, 3 affected sisters, heterozygous carrier parents/sibs F no United States - - 0 - - AATD see paper; ..., data from 2 affected sisters reported 2 1 Johan den Dunnen
00049072 - PubMed: Holmes 1990 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049073 - PubMed: Graham 1989 - - - - - - 0 - - AATD n/a; affected organ: Not available 1 1 George Patrinos
00049074 - PubMed: 14985567 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049075 - PubMed: Curiel 1989 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver 2 1 George Patrinos
00049076 - PubMed: Nukiwa 1987 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung 2 1 George Patrinos
00049077 - PubMed: Seyama 1991 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung 1 1 George Patrinos
00049078 - PubMed: Constans 1980 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049079 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049080 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049081 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049082 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049083 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049084 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049085 - PubMed: Takahashi 1988 - - - - - - 0 - - AATD n/a; affected organ: Lung 1 1 George Patrinos
00049086 - PubMed: Curiel 1990 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung 2 1 George Patrinos
00049087 - PubMed: Faber 1994 - - - - - - 0 - - AATD n/a; affected organ: Lung 1 1 George Patrinos
00049088 - PubMed: Matsunaga 1990 - - - - - - 0 - - AATD n/a; affected organ: Not available 2 1 George Patrinos
00049089 - PubMed: Fraizer 1990 - - - - - - 0 - - AATD altered intra-cellular tertiary structure; affected organ: Lung and liver 1 1 George Patrinos
00049090 - PubMed: Faber 1994 - - - - - - 0 - - AATD n/a; affected organ: Lung 1 1 George Patrinos
00049091 - PubMed: Graham 1990 - - - - - - 0 - - AATD n/a; affected organ: Lung and liver 1 1 George Patrinos
00049092 - PubMed: 14639110 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung 1 1 George Patrinos
00049093 - PubMed: 12935698 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None 1 1 George Patrinos
00049094 - PubMed: Lovegrove 1997 - - - - - - 0 - - AATD disrupted glycosyliation at N83; affected organ: Not available 1 1 George Patrinos
00049095 - PubMed: Graham 1990 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver 1 1 George Patrinos
Legend   « First ‹ Prev     1 2     Next › Last »