| - GRCh37:
- Chr15:85186910
- GRCh38:
- Chr15:84643679
| WDR73 | G310* | Galloway-Mowat syndrome 1 | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188958
- GRCh38:
- Chr15:84645727
| WDR73 | W209C | Galloway-Mowat syndrome 1 | Uncertain significance
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188942
- GRCh38:
- Chr15:84645711
| WDR73 | R215C | Galloway-Mowat syndrome 1 | Uncertain significance
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85186732
- GRCh38:
- Chr15:84643501
| WDR73 | W369* | Galloway-Mowat syndrome 1 | Uncertain significance
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188710
- GRCh38:
- Chr15:84645479
| WDR73 | A292V | Galloway-Mowat syndrome 1 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188840
- GRCh38:
- Chr15:84645609
| WDR73 | R249C | Galloway-Mowat syndrome 1 | Uncertain significance
(May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85197464
- GRCh38:
- Chr15:84654233
| WDR73 | | Galloway-Mowat syndrome 1 | Likely pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85191127
- GRCh38:
- Chr15:84647896
| WDR73 | D116N | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188938
- GRCh38:
- Chr15:84645707
| WDR73 | S216N | Galloway-Mowat syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:85189019-85189020
- GRCh38:
- Chr15:84645788-84645789
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Pathogenic/Likely pathogenic
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188769
- GRCh38:
- Chr15:84645538
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Likely benign
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188983
- GRCh38:
- Chr15:84645752
| WDR73 | G201E | Galloway-Mowat syndrome 1 | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85186741-85186742
- GRCh38:
- Chr15:84643510-84643511
| WDR73 | L366fs | Galloway-Mowat syndrome 1 | Likely pathogenic
(Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188989
- GRCh38:
- Chr15:84645758
| WDR73 | R199Q | Inborn genetic diseases, Galloway-Mowat syndrome 1, not provided
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186837
- GRCh38:
- Chr15:84643606
| WDR73 | D334G | Galloway-Mowat syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186876-85186877
- GRCh38:
- Chr15:84643645-84643646
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85197203
- GRCh38:
- Chr15:84653972
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Likely benign
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85189578
- GRCh38:
- Chr15:84646347
| WDR73 | D118E | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85196868-85196870
- GRCh38:
- Chr15:84653637-84653639
| WDR73 | D35del | not provided, Galloway-Mowat syndrome 1 | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186706
- GRCh38:
- Chr15:84643475
| WDR73 | R378C | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186708
- GRCh38:
- Chr15:84643477
| WDR73 | P377L | not provided, Galloway-Mowat syndrome 1 | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188959
- GRCh38:
- Chr15:84645728
| WDR73 | W209* | Galloway-Mowat syndrome 1, Inborn genetic diseases | Pathogenic/Likely pathogenic
(Feb 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188865-85188866
- GRCh38:
- Chr15:84645634-84645635
| WDR73 | S240fs | not provided, Galloway-Mowat syndrome 1 | Pathogenic
(Jan 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186954
- GRCh38:
- Chr15:84643723
| WDR73 | G295D | Galloway-Mowat syndrome 1 | Likely pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188874-85188875
- GRCh38:
- Chr15:84645643-84645644
| WDR73 | G238fs | not provided, Galloway-Mowat syndrome 1 | Pathogenic/Likely pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186877-85186894
- GRCh38:
- Chr15:84643646-84643663
| WDR73 | | not provided, Galloway-Mowat syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188694
- GRCh38:
- Chr15:84645463
| WDR73 | | not provided, Galloway-Mowat syndrome 1 | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85191137
- GRCh38:
- Chr15:84647906
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85197473
- GRCh38:
- Chr15:84654242
| WDR73 | | not provided, Galloway-Mowat syndrome 1 | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85191788
- GRCh38:
- Chr15:84648557
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Likely benign
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188994
- GRCh38:
- Chr15:84645763
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85188818
- GRCh38:
- Chr15:84645587
| WDR73 | R256Q | Galloway-Mowat syndrome 1 | Likely pathogenic
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85186886
- GRCh38:
- Chr15:84643655
| WDR73 | R318W | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85328067
- GRCh38:
- Chr15:84784836
| ZNF592 | R721W | Galloway-Mowat syndrome 1 | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85341700
- GRCh38:
- Chr15:84798469
| ZNF592 | V911I | Galloway-Mowat syndrome 1 | Uncertain significance
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85188819
- GRCh38:
- Chr15:84645588
| WDR73 | R256W | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85189077
- GRCh38:
- Chr15:84645846
| WDR73 | | Galloway-Mowat syndrome 1, not provided | Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Abnormality of neuronal migration | Uncertain significance
(Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:85186705-85186706
- GRCh38:
- Chr15:84643474-84643475
| WDR73 | R378fs | not provided, Galloway-Mowat syndrome 1 | Conflicting interpretations of pathogenicity
(Dec 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:85191180
- GRCh38:
- Chr15:84647949
| WDR73 | L98P | Galloway-Mowat syndrome 1 | Likely pathogenic
(Oct 10, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:85186950
- GRCh38:
- Chr15:84643719
| WDR73 | F296fs | Galloway-Mowat syndrome 1, WDR73-related condition, not provided
| Pathogenic
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85191768
- GRCh38:
- Chr15:84648537
| WDR73 | R96K | not provided, Galloway-Mowat syndrome 1 | Pathogenic/Likely pathogenic
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85186898
- GRCh38:
- Chr15:84643667
| WDR73 | Q314* | not provided | Pathogenic
(Jul 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85196904
- GRCh38:
- Chr15:84653673
| WDR73 | L23Q | not provided | Likely pathogenic
(Jun 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85186799
- GRCh38:
- Chr15:84643568
| WDR73 | H347Y | Galloway-Mowat syndrome 1 | Pathogenic
(Jun 29, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr15:85189531-85189532
- GRCh38:
- Chr15:84646300-84646301
| WDR73 | W136fs | Galloway-Mowat syndrome 1 | Pathogenic
(Jun 29, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr15:85188882
- GRCh38:
- Chr15:84645651
| WDR73 | Q235* | Nephrotic syndrome, Galloway-Mowat syndrome 1 | Pathogenic/Likely pathogenic
(Nov 10, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:85188818-85188819
- GRCh38:
- Chr15:84645587-84645588
| WDR73 | R256fs | Galloway-Mowat syndrome 1, not provided | Pathogenic/Likely pathogenic
(Jan 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:85196014
- GRCh38:
- Chr15:84652783
| WDR73 | Y43* | Galloway-Mowat syndrome 1 | Pathogenic
(Dec 4, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr9:130588920
- GRCh38:
- Chr9:127826641
| ENG | P131L | Cardiovascular phenotype, Haemorrhagic telangiectasia 1, Galloway-Mowat syndrome 1,
not provided, not specified, Telangiectasia, hereditary hemorrhagic, type 1,
Hereditary hemorrhagic telangiectasia | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:85341859
- GRCh38:
- Chr15:84798628
| ZNF592 | S926N | not provided | Benign
(Jun 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85333953
- GRCh38:
- Chr15:84790722
| ZNF592 | | not provided | Benign
(Nov 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:85342440
- GRCh38:
- Chr15:84799209
| ZNF592 | G1046R | Galloway-Mowat syndrome 1 | Uncertain significance
(Jun 29, 2015) | no assertion criteria provided |