| - GRCh37:
- Chr16:23197793
- GRCh38:
- Chr16:23186472
| SCNN1G | I67M | Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23200938
- GRCh38:
- Chr16:23189617
| SCNN1G | H188Q | Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23200844
- GRCh38:
- Chr16:23189523
| SCNN1G | R157Q | Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Autosomal recessive pseudohypoaldosteronism type 1,
not provided | Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23225984
- GRCh38:
- Chr16:23214663
| SCNN1G | | Liddle syndrome 2, Bronchiectasis with or without elevated sweat chloride 3, not provided,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23224106
- GRCh38:
- Chr16:23212785
| SCNN1G | | Liddle syndrome 2, not provided, Bronchiectasis with or without elevated sweat chloride 3,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23224517
- GRCh38:
- Chr16:23213196
| SCNN1G | | Liddle syndrome 2, Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1,
not provided | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23226071
- GRCh38:
- Chr16:23214750
| SCNN1G | L511Q | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2,
Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23224184
- GRCh38:
- Chr16:23212863
| SCNN1G | S467N | Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(Jun 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23226494
- GRCh38:
- Chr16:23215173
| SCNN1G | V552I | Inborn genetic diseases, Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23223462
- GRCh38:
- Chr16:23212141
| SCNN1G | | Bronchiectasis with or without elevated sweat chloride 3 | Uncertain significance
(Feb 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23197731-23197732
- GRCh38:
- Chr16:23186410-23186411
| SCNN1G | R48fs | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2
| Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23205501
- GRCh38:
- Chr16:23194180
| SCNN1G | | Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 2, Bronchiectasis with or without elevated sweat chloride 3,
not provided | Likely benign
(Jul 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23226401
- GRCh38:
- Chr16:23215080
| SCNN1G | | Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2,
not specified, not provided | Benign/Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23224446
- GRCh38:
- Chr16:23213125
| SCNN1G | | Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Autosomal recessive pseudohypoaldosteronism type 1,
not provided | Likely benign
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23226089
- GRCh38:
- Chr16:23214768
| SCNN1G | M517T | not provided, Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 3,
Liddle syndrome 2 | Uncertain significance
(Aug 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23226429
- GRCh38:
- Chr16:23215108
| SCNN1G | N530S | Liddle syndrome 2, not provided, Bronchiectasis with or without elevated sweat chloride 3,
Autosomal recessive pseudohypoaldosteronism type 1 | Conflicting interpretations of pathogenicity
(Apr 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23223365
- GRCh38:
- Chr16:23212044
| SCNN1G | H396R | Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 2,
Liddle syndrome 2, Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1
| Uncertain significance
(Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23200913
- GRCh38:
- Chr16:23189592
| SCNN1G | R180Q | Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 2,
Liddle syndrome 2, not provided, Autosomal recessive pseudohypoaldosteronism type 1
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23200809
- GRCh38:
- Chr16:23189488
| SCNN1G | | not specified, not provided, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 3, Liddle syndrome 2, Liddle syndrome 2,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23203753
- GRCh38:
- Chr16:23192432
| SCNN1G | | Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 2,
not specified, not provided | Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23226787
- GRCh38:
- Chr16:23215466
| SCNN1G | | Liddle syndrome 2, not specified, not provided,
Bronchiectasis with or without elevated sweat chloride 3, Autosomal recessive pseudohypoaldosteronism type 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23221183
- GRCh38:
- Chr16:23209862
| SCNN1G | | not provided, Liddle syndrome 2, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 3, not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23224416
- GRCh38:
- Chr16:23213095
| SCNN1G | | Liddle syndrome 2, not specified, not provided,
Autosomal recessive pseudohypoaldosteronism type 1, Bronchiectasis with or without elevated sweat chloride 3 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23200963
- GRCh38:
- Chr16:23189642
| SCNN1G | E197K | Liddle syndrome 2, not specified, not provided,
Autosomal recessive pseudohypoaldosteronism type 1, Liddle syndrome 2, Autosomal recessive pseudohypoaldosteronism type 1,
Bronchiectasis with or without elevated sweat chloride 3 | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23200921
- GRCh38:
- Chr16:23189600
| SCNN1G | G183S | Liddle syndrome 2, not specified, not provided,
Autosomal recessive pseudohypoaldosteronism type 1 | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |