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Items: 23

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:34780278
GRCh38:
Chr11:34758731
Chronic obstructive pulmonary diseaseassociation
(Feb 3, 2021)
no assertion criteria providedVCV001027622
2.
GRCh37:
Chr11:62186542
GRCh38:
Chr11:62419070
SCGB1A1Chronic obstructive pulmonary diseaseassociation
(Feb 3, 2021)
no assertion criteria providedVCV001027621
3.
GRCh37:
Chr11:34810443
GRCh38:
Chr11:34788896
Chronic obstructive pulmonary diseaseassociation
(Feb 3, 2021)
no assertion criteria providedVCV001027620
4.
GRCh37:
Chr4:89369333
GRCh38:
Chr4:88448181
FAM13AChronic obstructive pulmonary diseaseassociation
(Feb 3, 2020)
no assertion criteria providedVCV001027619
5.
GRCh37:
Chr4:89883979
GRCh38:
Chr4:88962828
FAM13AChronic obstructive pulmonary disease, not providedBenign
(Feb 17, 2020)
criteria provided, single submitterVCV001027618
6.
GRCh37:
Chr4:89886297
GRCh38:
Chr4:88965146
FAM13AChronic obstructive pulmonary diseaseassociation
(Feb 3, 2020)
no assertion criteria providedVCV001027617
7.
GRCh37:
Chr4:145480780
GRCh38:
Chr4:144559628
HHIPChronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary diseaseassociation
(Feb 12, 2020)
no assertion criteria providedVCV000870131
8.
GRCh37:
Chr4:145486389
GRCh38:
Chr4:144565237
HHIPChronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary diseaseassociation
(Feb 12, 2020)
no assertion criteria providedVCV000870130
9.
GRCh37:
Chr4:145460230
GRCh38:
Chr4:144539078
HHIPChronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary diseaseassociation
(Feb 12, 2020)
no assertion criteria providedVCV000870129
10.
GRCh37:
Chr6:31778272
GRCh38:
Chr6:31810495
HSPA1LT493KChronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694520
11.
GRCh37:
Chr6:31794592
GRCh38:
Chr6:31826815
HSPA1BChronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694519
12.
GRCh37:
Chr6:31795550
GRCh38:
Chr6:31827773
HSPA1BChronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694518
13.
GRCh37:
Chr6:31784586
GRCh38:
Chr6:31816809
HSPA1AChronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694517
14.
GRCh37:
Chr6:31783507
GRCh38:
Chr6:31815730
HSPA1A, LOC107063610Chronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694516
15.
GRCh37:
Chr6:31783208
GRCh38:
Chr6:31815431
HSPA1A, LOC107063610Chronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694515
16.
GRCh37:
Chr6:31783863
GRCh38:
Chr6:31816086
HSPA1AE110DChronic obstructive pulmonary diseaseassociation
(Aug 4, 2019)
no assertion criteria providedVCV000694514
17.
GRCh37:
Chr14:94847262
Chr14:94844884-94844885
GRCh38:
Chr14:94380925
Chr14:94378547-94378548
SERPINA1, SERPINA1E288V, E387fsAlpha-1-antitrypsin deficiencyPathogenic
(Mar 16, 2018)
criteria provided, single submitterVCV000626305
18.
GRCh37:
Chr14:94844947
Chr14:94849540
GRCh38:
Chr14:94378610
Chr14:94383203
SERPINA1, SERPINA1E366K, L12PAlpha-1-antitrypsin deficiencyPathogenic
(Mar 16, 2018)
criteria provided, single submitterVCV000626304
19.
GRCh37:
Chr14:94847262
Chr14:94849385
GRCh38:
Chr14:94380925
Chr14:94383048
SERPINA1, SERPINA1E288V, Q64KAlpha-1-antitrypsin deficiencyPathogenic
(Nov 13, 2015)
criteria provided, single submitterVCV000440501
20.
GRCh37:
Chr14:94847262
Chr14:94848973
GRCh38:
Chr14:94380925
Chr14:94382636
SERPINA1, SERPINA1E288V, D201GAlpha-1-antitrypsin deficiencyPathogenic
(Jul 12, 2016)
criteria provided, single submitterVCV000440500
21.
GRCh37:
Chr14:94849381
GRCh38:
Chr14:94383044
SERPINA1L65PAlpha-1-antitrypsin deficiency, PI M(PROCIDA), not provided,
Alpha-1-antitrypsin deficiency, Chronic obstructive pulmonary disease
Pathogenic/Likely pathogenic
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000017971
22.
GRCh37:
Chr14:94847262
GRCh38:
Chr14:94380925
SERPINA1E288VCystic fibrosis, Chronic obstructive pulmonary disease, Alpha-1-antitrypsin deficiency,
not specified, Alpha-1-antitrypsin deficiency, PI S,
not provided
Conflicting interpretations of pathogenicity, other
(Jun 2, 2021)
criteria provided, conflicting interpretationsVCV000017969
23.
GRCh37:
Chr14:94844947
GRCh38:
Chr14:94378610
SERPINA1E366KChronic obstructive pulmonary disease, Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency,
PI Z(TUN), PI Z, PI Z(AUGSBURG),
Chronic obstructive pulmonary disease, not provided, Inborn genetic diseases,
FRAXE
Pathogenic, risk factor
(May 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000017967
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