| - GRCh37:
- Chr1:27480650
- GRCh38:
- Chr1:27154159
| SLC9A1 | D59V | Lichtenstein-Knorr syndrome | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428222
- GRCh38:
- Chr1:27101731
| SLC9A1 | | Lichtenstein-Knorr syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:27427041
- GRCh38:
- Chr1:27100550
| SLC9A1 | | not provided, Lichtenstein-Knorr syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27426796
- GRCh38:
- Chr1:27100305
| SLC9A1 | | Lichtenstein-Knorr syndrome | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27436029-27436030
- GRCh38:
- Chr1:27109538-27109539
| SLC9A1 | G352fs | Lichtenstein-Knorr syndrome | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27480757
- GRCh38:
- Chr1:27154266
| SLC9A1 | | Lichtenstein-Knorr syndrome, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27436220
- GRCh38:
- Chr1:27109729
| SLC9A1 | I288fs | Lichtenstein-Knorr syndrome | Pathogenic
(Sep 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:27428621
- GRCh38:
- Chr1:27102130
| SLC9A1 | | Lichtenstein-Knorr syndrome, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27436226
- GRCh38:
- Chr1:27109735
| SLC9A1 | V286M | Lichtenstein-Knorr syndrome | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27436169
- GRCh38:
- Chr1:27109678
| SLC9A1 | G305R | Lichtenstein-Knorr syndrome | Pathogenic
(Jan 15, 2015) | no assertion criteria provided |