| - GRCh37:
- Chr8:22020178
- GRCh38:
- Chr8:22162665
| SFTPC | L45P | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020680
- GRCh38:
- Chr8:22163167
| SFTPC | G44R, G97R | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(May 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021433
- GRCh38:
- Chr8:22163920
| SFTPC | T105M, T152M, T158M | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020194
- GRCh38:
- Chr8:22162681
| SFTPC | I50M | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020231
- GRCh38:
- Chr8:22162718
| SFTPC | K63E | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020236
- GRCh38:
- Chr8:22162723
| SFTPC | H64Q | Surfactant metabolism dysfunction, pulmonary, 2 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020705
- GRCh38:
- Chr8:22163192
| SFTPC | D105V, D52V | Surfactant metabolism dysfunction, pulmonary, 2 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020201-22020202
- GRCh38:
- Chr8:22162688-22162689
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Sep 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020294
- GRCh38:
- Chr8:22162781
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020066
- GRCh38:
- Chr8:22162553
| SFTPC | | not provided, Surfactant metabolism dysfunction, pulmonary, 2 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021739-22021740
- GRCh38:
- Chr8:22164226-22164227
| SFTPC | | not provided, Surfactant metabolism dysfunction, pulmonary, 2 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021420
- GRCh38:
- Chr8:22163907
| SFTPC | A102fs, A149fs, A155fs | Surfactant metabolism dysfunction, pulmonary, 2 | Likely pathogenic
(Feb 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021526
- GRCh38:
- Chr8:22164013
| SFTPC | C136Y, C183Y, C189Y | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2 | Conflicting interpretations of pathogenicity
(Dec 5, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021423
- GRCh38:
- Chr8:22163910
| SFTPC | A149S, A155S, A102S | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020201
- GRCh38:
- Chr8:22162688
| SFTPC | A53T | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary, 2, not provided
| Conflicting interpretations of pathogenicity
(Mar 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021946
- GRCh38:
- Chr8:22164433
| SFTPC | | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020112
- GRCh38:
- Chr8:22162599
| SFTPC | R23Q | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2, Hereditary pulmonary alveolar proteinosis
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021931
- GRCh38:
- Chr8:22164418
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Likely benign
(Jul 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020694
- GRCh38:
- Chr8:22163181
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020628
- GRCh38:
- Chr8:22163115
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021034
- GRCh38:
- Chr8:22163521
| SFTPC | L84H, L137H | Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22022793
- GRCh38:
- Chr8:22165280
| BMP1, LOC129999976, SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2, Osteogenesis Imperfecta, Recessive
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021953
- GRCh38:
- Chr8:22164440
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021934
- GRCh38:
- Chr8:22164421
| BMP1, SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Interstitial lung disease 2,
Osteogenesis Imperfecta, Recessive | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021933
- GRCh38:
- Chr8:22164420
| BMP1, SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Interstitial lung disease 2,
Osteogenesis Imperfecta, Recessive | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021883
- GRCh38:
- Chr8:22164370
| BMP1, SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Interstitial lung disease 2,
Osteogenesis Imperfecta, Recessive | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021796
- GRCh38:
- Chr8:22164283
| BMP1, SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Interstitial lung disease 2,
Osteogenesis Imperfecta, Recessive | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021585
- GRCh38:
- Chr8:22164072
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021584
- GRCh38:
- Chr8:22164071
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021566
- GRCh38:
- Chr8:22164053
| SFTPC | | not specified, Surfactant metabolism dysfunction, pulmonary, 2, Hereditary pulmonary alveolar proteinosis,
Interstitial lung disease 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021530
- GRCh38:
- Chr8:22164017
| SFTPC | | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021501
- GRCh38:
- Chr8:22163988
| SFTPC | L181V, L175V, L128V | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
not provided | Conflicting interpretations of pathogenicity
(Mar 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021483
- GRCh38:
- Chr8:22163970
| SFTPC | G175R, G169R, G122R | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22021423
- GRCh38:
- Chr8:22163910
| SFTPC | A155P, A102P, A149P | not specified, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
not provided | Conflicting interpretations of pathogenicity
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021399
- GRCh38:
- Chr8:22163886
| SFTPC | E147K, E94K | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020975
- GRCh38:
- Chr8:22163462
| SFTPC | | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
not provided | Benign/Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020679
- GRCh38:
- Chr8:22163166
| SFTPC | | not provided, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Surfactant metabolism dysfunction, pulmonary, 2,
Interstitial lung disease 2 | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020619
- GRCh38:
- Chr8:22163106
| SFTPC | | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
not provided | Benign
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020619
- GRCh38:
- Chr8:22163106
| SFTPC | | Hereditary pulmonary alveolar proteinosis, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2
| Benign/Likely benign
(May 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020220
- GRCh38:
- Chr8:22162707
| SFTPC | H59R | not specified, Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary, 2,
Hereditary pulmonary alveolar proteinosis | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22020186
- GRCh38:
- Chr8:22162673
| SFTPC | V48M | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020080
- GRCh38:
- Chr8:22162567
| SFTPC | | not specified, not provided, Surfactant metabolism dysfunction, pulmonary, 2,
Pulmonary Surfactant Metabolism Dysfunction, Dominant, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease 2
| Benign/Likely benign
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22019383
- GRCh38:
- Chr8:22161870
| SFTPC | | Hereditary pulmonary alveolar proteinosis, not provided, Surfactant metabolism dysfunction, pulmonary, 2,
Interstitial lung disease 2 | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22019365
- GRCh38:
- Chr8:22161852
| SFTPC | | not provided, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
Pulmonary Surfactant Metabolism Dysfunction, Dominant, Hereditary pulmonary alveolar proteinosis | Benign/Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22019275
- GRCh38:
- Chr8:22161762
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22019251
- GRCh38:
- Chr8:22161738
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22019250
- GRCh38:
- Chr8:22161737
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22019208
- GRCh38:
- Chr8:22161695
| BMP1, SFTPC | | not provided, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2,
Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant | Benign/Likely benign
(Jul 15, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020159
- GRCh38:
- Chr8:22162646
| SFTPC | V39M | not provided, Surfactant metabolism dysfunction, pulmonary, 2 | Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020159
- GRCh38:
- Chr8:22162646
| SFTPC | V39L | Interstitial lung disease 2, Surfactant metabolism dysfunction, pulmonary, 2, Hereditary pulmonary alveolar proteinosis,
not provided | Conflicting interpretations of pathogenicity
(Jul 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22021517
- GRCh38:
- Chr8:22164004
| BMP1, SFTPC | S186N, S133N, S180N | Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, not specified,
Hereditary pulmonary alveolar proteinosis, not provided, Surfactant metabolism dysfunction, pulmonary, 2,
Interstitial lung disease 2 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021388
- GRCh38:
- Chr8:22163875
| BMP1, SFTPC | | Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, not specified,
not provided, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021037
- GRCh38:
- Chr8:22163524
| BMP1, SFTPC | T138N, T85N | Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, not specified,
Hereditary pulmonary alveolar proteinosis, not provided, Surfactant metabolism dysfunction, pulmonary, 2,
Interstitial lung disease 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22020259
- GRCh38:
- Chr8:22162746
| BMP1, SFTPC | | Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, not specified,
not provided, Surfactant metabolism dysfunction, pulmonary, 2, Interstitial lung disease 2
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216019240
- GRCh38:
- Chr1:215845898
| USH2A | W2994* | Rare genetic deafness, Usher syndrome, Retinal dystrophy,
Retinitis pigmentosa 39, Usher syndrome type 2A, not provided,
Surfactant metabolism dysfunction, pulmonary, 2, Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021541
- GRCh38:
- Chr8:22164028
| SFTPC | L194P, L141P, L188P | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(Jul 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr8:22020240
- GRCh38:
- Chr8:22162727
| SFTPC | E66K | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(Jan 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr8:22020971
- GRCh38:
- Chr8:22163458
| SFTPC | A116D, A63D | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(Jan 13, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr8:22021060
- GRCh38:
- Chr8:22163547
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(Feb 22, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr8:22021523
- GRCh38:
- Chr8:22164010
| SFTPC | L188Q, L135Q, L182Q | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(May 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr8:22021460
- GRCh38:
- Chr8:22163947
| SFTPC | R167Q, R114Q, R161Q | Hereditary pulmonary alveolar proteinosis, not provided, Interstitial lung disease 2,
Surfactant metabolism dysfunction, pulmonary, 2 | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:22020609
- GRCh38:
- Chr8:22163096
| SFTPC | I73T, I20T | Hereditary pulmonary alveolar proteinosis, not provided, Surfactant metabolism dysfunction, pulmonary, 2
| Pathogenic
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:22021060
- GRCh38:
- Chr8:22163547
| SFTPC | | Surfactant metabolism dysfunction, pulmonary, 2 | Pathogenic
(Feb 15, 2003) | no assertion criteria provided |