NM_002582.4(PARN):c.529C>T (p.Gln177Ter)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided|Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
β
ββ2026β Residue 177
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis|not provided
β
β
ββ2025β Residue 585
NM_002582.4(PARN):c.962+2T>CLikely pathogenic
not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
β
ββ2025
NM_002582.4(PARN):c.874dup (p.Asp292fs)Pathogenic
not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
β
ββ2025β Residue 292
NM_002582.4(PARN):c.948_949del (p.Val318fs)Pathogenic
Dyskeratosis congenita, autosomal recessive 6|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
β
ββ2024β Residue 318
NM_002582.4(PARN):c.758_759del (p.Glu253fs)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
β
ββ2024β Residue 253
NM_002582.4(PARN):c.784-1G>ALikely pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β
β
ββ2024
NM_002582.4(PARN):c.1481-1G>APathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6|Pulmonary fibrosis|Melanoma
β
β
ββ2024
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β
β
ββ2024β Residue 237
NM_002582.4(PARN):c.1405+1G>TLikely pathogenic
Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Squamous cell lung carcinoma|PARN-related disorder
β
β
ββ2023
NM_002582.4(PARN):c.1006-2A>GPathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β
β
ββ2020
NM_002582.4(PARN):c.620+48A>GLikely pathogenic
Dyskeratosis congenita, autosomal recessive 6
β
βββ2026
NM_002582.4(PARN):c.783+2T>GLikely pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6
β
βββ2025
NM_002582.4(PARN):c.633del (p.Lys211fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
βββ2025β Residue 211
NM_002582.4(PARN):c.703-1G>ALikely pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
βββ2025
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
βββ2025β Residue 472
NM_002582.4(PARN):c.563dup (p.Glu189fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis
β
βββ2025β Residue 189
NM_002582.4(PARN):c.1257del (p.Phe419fs)Pathogenic
Familial Interstitial Pneumonia;Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
βββ2025β Residue 419
NM_002582.4(PARN):c.382C>T (p.Arg128Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β
βββ2025β Residue 128
NM_002582.4(PARN):c.98-2A>GLikely pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6
β
βββ2025