Total 71 pathogenic variants reported for Galloway-Mowat syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) SNV
Germline		 Chr15:84652783 Pathogenic Galloway-Mowat syndrome 1 No Assertion Criteria Provided
 CA249832 rs_727502863

1 SubmittersRCV000150038
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) SNV
Germline		 Chr12:68690746 Pathogenic/Likely pathogenic Global developmental delay
Light complexion
Early onset focal segmental glomerulosclerosis
Condition: not provided
Galloway-Mowat syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249928 rs_730882216

5 SubmittersRCV000162125RCV001093320RCV000721164
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) SNV
Germline		 Chr15:84645651 Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1
Nephrotic syndrome		 No Assertion Criteria Provided
 CA249836 rs_797044992

2 SubmittersRCV000190488RCV001849331
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) SNV
Germline		 Chr15:84643568 Pathogenic Galloway-Mowat syndrome 1 No Assertion Criteria Provided
 CA249839 rs_754099015

1 SubmittersRCV000190490
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) SNV
Germline		 Chr15:84653673 Likely pathogenic Galloway-Mowat syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA249841 rs_797044993

2 SubmittersRCV000190491RCV000414279
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) SNV
Germline		 Chr15:84643667 Pathogenic Galloway-Mowat syndrome 1
Condition: not provided
Nephrotic syndrome		 Criteria Provided
Single Submitter
 CA249843 rs_797044994

3 SubmittersRCV000190492RCV001093435RCV001849332
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) SNV
Germline		 Chr15:84648537 Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1
Condition: not provided
Nephrotic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249845 rs_797044995

11 SubmittersRCV000190493RCV000657966RCV001849333
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) SNV
Germline		 Chr15:84647949 Likely pathogenic Galloway-Mowat syndrome 1 No Assertion Criteria Provided
 CA055994 rs_863223396

1 SubmittersRCV000785981
NM_032856.5(WDR73):c.518-10G>A SNV
Germline		 Chr15:84645846 Conflicting classifications of pathogenicity Condition: not provided
Galloway-Mowat syndrome 1		 Criteria Provided
Conflicting Classifications
 CA7707309 rs_769933431

3 SubmittersRCV000492885RCV002481563
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala) SNV
Germline		 Chr21:42862357 Pathogenic Galloway-Mowat syndrome 6 No Assertion Criteria Provided
 CA410392608 rs_1555976610

1 SubmittersRCV000758712
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) SNV
Germline		 ChrX:154478284 Pathogenic Galloway-Mowat syndrome 2, X-linked No Assertion Criteria Provided
 CA415191949 rs_1557211306

1 SubmittersRCV000513483
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) SNV
Germline		 ChrX:154477966 Pathogenic Galloway-Mowat syndrome 2, X-linked No Assertion Criteria Provided
 CA415191262 rs_1557211209

1 SubmittersRCV000512681
NM_006014.5(LAGE3):c.188+1G>A SNV
Germline		 ChrX:154478727 Pathogenic Galloway-Mowat syndrome 2, X-linked No Assertion Criteria Provided
 CA415193241 rs_1557211410

1 SubmittersRCV000513038
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg) SNV
Germline		 Chr20:46689173 Pathogenic Galloway-Mowat syndrome 4 No Assertion Criteria Provided
 CA409258575 rs_1432218739

1 SubmittersRCV000513568
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp) SNV
Germline		 Chr20:46689290 Pathogenic Galloway-Mowat syndrome 4 No Assertion Criteria Provided
 CA409258817 rs_773814837

1 SubmittersRCV000513023
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro) SNV
Germline		 Chr2:73730594 Conflicting classifications of pathogenicity Galloway-Mowat syndrome 5
Nephrotic syndrome		 No Assertion Criteria Provided
 CA347269034 rs_1553433412

2 SubmittersRCV000513571RCV001849391
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys) SNV
Germline		 Chr2:73730025 Pathogenic Galloway-Mowat syndrome 5 No Assertion Criteria Provided
 CA347268763 rs_1233885358

1 SubmittersRCV000512903
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) SNV
Germline		 Chr14:20447274 Pathogenic Galloway-Mowat syndrome 3
Galloway-Mowat syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7081001 rs_753237335

4 SubmittersRCV000513377RCV002274049
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) SNV
Germline		 Chr14:20452057 Pathogenic/Likely pathogenic See cases
Galloway-Mowat syndrome 3
Condition: not provided
OSGEP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7081271 rs_140076803

10 SubmittersRCV002252146RCV000512715RCV001551771RCV004757241
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) SNV
Germline		 Chr14:20454644 Pathogenic Galloway-Mowat syndrome 3
Condition: not provided
Nephrotic syndrome		 Criteria Provided
Single Submitter
 CA389127659 rs_1555331969

3 SubmittersRCV000513299RCV001268300RCV001849392
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) SNV
Germline		 Chr14:20447645 Pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 CA7081067 rs_144732839

2 SubmittersRCV000512749
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) SNV
Germline		 Chr14:20452053 Pathogenic/Likely pathogenic Galloway-Mowat syndrome 3
Condition: not provided		 No Assertion Criteria Provided
 CA389124511 rs_1443735811

5 SubmittersRCV000513079RCV001529474
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) SNV
Germline		 Chr14:20447646 Likely pathogenic Galloway-Mowat syndrome 3
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7081069 rs_374322839

7 SubmittersRCV000513428RCV001266640RCV002524975
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) SNV
Germline		 Chr14:20447957 Pathogenic Galloway-Mowat syndrome 3
Nephrotic syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7081107 rs_773173317

4 SubmittersRCV000512759RCV001849393RCV002524976
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) SNV
Germline		 Chr14:20447275 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Galloway-Mowat syndrome 3		 Criteria Provided
Conflicting Classifications
 CA7081003 rs_761839638

4 SubmittersRCV000522704RCV001266639RCV001335865
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) SNV
Germline		 Chr14:20452066 Likely pathogenic Inborn genetic diseases
Galloway-Mowat syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7081272 rs_140583554

2 SubmittersRCV000622355RCV002221565
NM_018669.6(WDR4):c.509G>T (p.Arg170Leu) SNV
Germline		 Chr21:42862339 Conflicting classifications of pathogenicity Microcephaly, growth deficiency, seizures, and brain malformations
Galloway-Mowat syndrome 6		 Criteria Provided
Conflicting Classifications
 rs_1292041526

3 SubmittersRCV000758709RCV003989595
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) SNV
Germline		 Chr21:42862339 Likely pathogenic Galloway-Mowat syndrome 6
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1292041526

5 SubmittersRCV000758710RCV001281582
NM_018669.6(WDR4):c.454-2A>C SNV
Germline		 Chr21:42862396 Likely pathogenic Galloway-Mowat syndrome 6
Galloway-Mowat syndrome		 Criteria Provided
Single Submitter
 rs_779449710

2 SubmittersRCV000758714RCV001254699
NM_018230.3(NUP133):c.3335-11T>A SNV
Germline		 Chr1:229442051 Pathogenic Galloway-Mowat syndrome 8 No Assertion Criteria Provided
 rs_1433513056

1 SubmittersRCV000760137
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr) SNV
Germline		 Chr12:68721854 Pathogenic Galloway-Mowat syndrome 7 No Assertion Criteria Provided
 rs_745342141

1 SubmittersRCV000760138
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) SNV
Germline		 Chr15:84645587 Likely pathogenic Galloway-Mowat syndrome 1 Criteria Provided
Single Submitter
 rs_866551482

2 SubmittersRCV000786039
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) SNV
Germline		 Chr15:84643723 Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1596048227

2 SubmittersRCV000991212RCV004721694
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) SNV
Germline		 Chr20:46686788 Conflicting classifications of pathogenicity Global developmental delay
Seizure
Galloway-Mowat syndrome 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_553547069

4 SubmittersRCV001003630RCV002221597RCV002549220
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) SNV
Germline		 Chr14:20452407 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 rs_780944919

1 SubmittersRCV001281254
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) SNV
Germline		 Chr14:20454603 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 rs_1881216647

1 SubmittersRCV001281255
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) SNV
Germline		 Chr15:84645728 Pathogenic/Likely pathogenic Inborn genetic diseases
Galloway-Mowat syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1896432430

2 SubmittersRCV001265694RCV001332717
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) SNV
Germline		 Chr14:20448965 Likely pathogenic Condition: not provided
Galloway-Mowat syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_140696201

2 SubmittersRCV001280752RCV002471079
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) SNV
Germline		 Chr15:84646347 Conflicting classifications of pathogenicity Condition: not provided
Galloway-Mowat syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_201827208

5 SubmittersRCV001556612RCV002495888
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln) SNV
Germline		 Chr20:46689222 Likely pathogenic Galloway-Mowat syndrome 4 Criteria Provided
Single Submitter
 rs_1568972559

1 SubmittersRCV001580607
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) SNV
Germline		 Chr14:20448113 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 rs_2139289899

1 SubmittersRCV001619764
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) SNV
Germline		 Chr14:20447645 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 rs_144732839

1 SubmittersRCV001619765
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter) SNV
Germline		 Chr14:93207017 Pathogenic Galloway-Mowat syndrome 9
Galloway-Mowat syndrome		 Criteria Provided
Single Submitter
 rs_1218573239

2 SubmittersRCV001775536RCV002274206
NM_024640.4(YRDC):c.251C>T (p.Ala84Val) SNV
Germline		 Chr1:37807930 Pathogenic Galloway-Mowat syndrome 10 No Assertion Criteria Provided
 rs_1646752498

1 SubmittersRCV001777187
NM_024640.4(YRDC):c.662T>C (p.Ile221Thr) SNV
Germline		 Chr1:37804407 Pathogenic Galloway-Mowat syndrome 10 No Assertion Criteria Provided
 rs_2148390396

1 SubmittersRCV001777190
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) SNV
Germline		 Chr14:20448809 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter
 rs_1417690595

1 SubmittersRCV002244557
NM_018669.6(WDR4):c.266G>A (p.Arg89His) SNV
Germline		 Chr21:42873581 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Microcephaly, growth deficiency, seizures, and brain malformations
Galloway-Mowat syndrome 6		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002922878RCV002922877RCV004725419
NM_032856.5(WDR73):c.41+1G>C SNV
Germline		 Chr15:84654233 Likely pathogenic Galloway-Mowat syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003142663
NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu) SNV
Germline		 Chr14:20452446 Likely pathogenic Galloway-Mowat syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV003444166
NM_016058.5(TPRKB):c.445T>A (p.Tyr149Asn) SNV
Germline		 Chr2:73730026 Likely pathogenic Galloway-Mowat syndrome 5 Criteria Provided
Single Submitter

1 SubmittersRCV003990530
NM_020401.4(NUP107):c.1063C>T (p.Arg355Cys) SNV
Germline		 Chr12:68715720 Likely pathogenic Galloway-Mowat syndrome 7 Criteria Provided
Single Submitter

1 SubmittersRCV003993531
NM_032856.5(WDR73):c.475C>T (p.Gln159Ter) SNV
Germline		 Chr15:84646226 Pathogenic Galloway-Mowat syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004776332
NM_018669.6(WDR4):c.727-331G>T SNV
Germline		 Chr21:42854957 Likely pathogenic Galloway-Mowat syndrome 6 Criteria Provided
Single Submitter

1 SubmittersRCV004789900