ClinVar Miner

List of variants in gene NAF1 reported as pathogenic for pulmonary fibrosis

Included ClinVar conditions (20):

Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Interstitial lung disease 2
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Pulmonary fibrosis; Familial Interstitial Pneumonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)
NM_138386.3(NAF1):c.956_957del (p.Lys319fs)
NM_138386.3(NAF1):c.984dup (p.Ser329fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.