| - GRCh37:
- Chr16:86546619-86546629
- GRCh38:
- Chr16:86513013-86513023
| FOXF1 | H357fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544196
- GRCh38:
- Chr16:86510590
| FOXF1 | K7fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544341
- GRCh38:
- Chr16:86510735
| FOXF1 | L56F | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544221-86544222
- GRCh38:
- Chr16:86510615-86510616
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544777
- GRCh38:
- Chr16:86511171
| FOXF1 | G201D | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Feb 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545012-86545033
- GRCh38:
- Chr16:86511406-86511427
| FOXF1 | G281fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545055-86545056
- GRCh38:
- Chr16:86511449-86511450
| FOXF1 | G302fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544946
- GRCh38:
- Chr16:86511340
| FOXF1 | M257I | Inborn genetic diseases, Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86546621
- GRCh38:
- Chr16:86513015
| FOXF1 | H357L | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545070
- GRCh38:
- Chr16:86511464
| FOXF1 | P299T | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86545063
- GRCh38:
- Chr16:86511457
| FOXF1 | A297fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(May 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545026-86545030
- GRCh38:
- Chr16:86511420-86511424
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544354
- GRCh38:
- Chr16:86510748
| FOXF1 | A60V | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Apr 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544451
- GRCh38:
- Chr16:86510845
| FOXF1 | W92* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544174
- GRCh38:
- Chr16:86510568
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Oct 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544843
- GRCh38:
- Chr16:86511237
| FOXF1 | S223* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544411-86544412
- GRCh38:
- Chr16:86510805-86510806
| FOXF1 | S80fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Feb 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544477
- GRCh38:
- Chr16:86510871
| FOXF1 | S101L | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Feb 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545102
- GRCh38:
- Chr16:86511496
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely benign
(Aug 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544754
- GRCh38:
- Chr16:86511148
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely benign
(Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544955-86544956
- GRCh38:
- Chr16:86511349-86511350
| FOXF1 | A261P | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely benign
(Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:83931797-86285776
| ADAD2, DNAAF1, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545137
- GRCh38:
- Chr16:86511531
| FOXF1 | P322fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544441
- GRCh38:
- Chr16:86510835
| FOXF1 | Y89C | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544461
- GRCh38:
- Chr16:86510855
| FOXF1 | V96L | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544230-86544233
- GRCh38:
- Chr16:86510624-86510627
| FENDRR, FOXF1 | G20fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544428
- GRCh38:
- Chr16:86510822
| FOXF1 | F85L | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jun 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:86546605-86546606
- GRCh38:
- Chr16:86512999-86513000
| FOXF1 | G360fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jun 4, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:86243180-87703229
| FBXO31, ZCCHC14-DT, FENDRR, FOXC2, C16orf95, FOXF1, FOXL1, JPH3, MAP1LC3B, MTHFSD, ZCCHC14 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Dec 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86144118-86289385
| LINC01082 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Dec 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86137629-86287477
| LINC01082 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Dec 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545124
- GRCh38:
- Chr16:86511518
| FOXF1 | N317fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Dec 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544341
- GRCh38:
- Chr16:86510735
| FOXF1 | L56V | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Dec 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544588
- GRCh38:
- Chr16:86510982
| FOXF1 | R138P | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Sep 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:84872102-87678641
| C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Dec 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544320
- GRCh38:
- Chr16:86510714
| FOXF1 | P49A | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545024-86545025
- GRCh38:
- Chr16:86511418-86511419
| FOXF1 | I285fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544491
- GRCh38:
- Chr16:86510885
| FOXF1 | F106L | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545037
- GRCh38:
- Chr16:86511431
| FOXF1 | Q288* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544469
- GRCh38:
- Chr16:86510863
| FOXF1 | H98Q | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544714
- GRCh38:
- Chr16:86511108
| FOXF1 | S180* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544396
- GRCh38:
- Chr16:86510790
| FOXF1 | I74N | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86546690
- GRCh38:
- Chr16:86513084
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544366
- GRCh38:
- Chr16:86510760
| FOXF1 | S64* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545071-86545072
- GRCh38:
- Chr16:86511465-86511466
| FOXF1 | G302fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545040-86545047
- GRCh38:
- Chr16:86511434-86511441
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544264
- GRCh38:
- Chr16:86510658
| FOXF1 | S30* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544320
- GRCh38:
- Chr16:86510714
| FOXF1 | P49S | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86546581-86546582
- GRCh38:
- Chr16:86512975-86512976
| FOXF1 | F344fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:86545144
- GRCh38:
- Chr16:86511538
| FOXF1 | | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Likely benign
(Jan 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544858-86544865
- GRCh38:
- Chr16:86511252-86511259
| FOXF1 | A231fs | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Aug 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86546634
- GRCh38:
- Chr16:86513028
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment, not provided | Benign
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544811
- GRCh38:
- Chr16:86511205
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Apr 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86546691
- GRCh38:
- Chr16:86513085
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Likely pathogenic
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86544455
- GRCh38:
- Chr16:86510849
| FOXF1 | N94Y | Alveolar capillary dysplasia with pulmonary venous misalignment, Atresia of urethra, Fetal megacystis,
Ventricular septal defect | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86547982-86547983
- GRCh38:
- Chr16:86514376-86514377
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86547856-86547857
- GRCh38:
- Chr16:86514250-86514251
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment, not provided | Benign
(May 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86547856
- GRCh38:
- Chr16:86514250
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment, not provided | Conflicting interpretations of pathogenicity
(May 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:86547153-86547154
- GRCh38:
- Chr16:86513547-86513548
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86547153-86547154
- GRCh38:
- Chr16:86513547-86513548
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86547001-86547002
- GRCh38:
- Chr16:86513395-86513396
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86547000-86547001
- GRCh38:
- Chr16:86513394-86513395
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment, not provided | Conflicting interpretations of pathogenicity
(Oct 16, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:86546810-86546811
- GRCh38:
- Chr16:86513204-86513205
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545083
- GRCh38:
- Chr16:86511477
| FOXF1 | S303N | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544820
- GRCh38:
- Chr16:86511214
| FOXF1 | | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544233-86544235
- GRCh38:
- Chr16:86510627-86510629
| FOXF1 | G23del | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86544210-86544211
- GRCh38:
- Chr16:86510604-86510605
| FOXF1 | | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| | | | Alveolar capillary dysplasia with pulmonary venous misalignment, Microcephaly, Gastroesophageal reflux,
Failure to thrive, Global developmental delay, Pulmonary lymphangiectasia
| Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:86545048
- GRCh38:
- Chr16:86511442
| FOXF1 | | not provided, Alveolar capillary dysplasia with pulmonary venous misalignment, not specified
| Benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:86545023-86545024
- GRCh38:
- Chr16:86511417-86511418
| FOXF1 | Y284fs | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr16:86546689
- GRCh38:
- Chr16:86513083
| FOXF1 | | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr16:86544400
- GRCh38:
- Chr16:86510794
| FOXF1 | Y75* | Alveolar capillary dysplasia with pulmonary venous misalignment | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |