Total 92 pathogenic variants reported for Renal coloboma syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser) SNV
Germline		 Chr10:100750707 Pathogenic/Likely pathogenic Renal coloboma syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256966 rs_79555199

3 SubmittersRCV000014810RCV005255555
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter) SNV
Germline		 Chr10:100824682 Pathogenic Renal coloboma syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA256976 rs_78122364

2 SubmittersRCV000014814RCV001093422
NM_000278.5(PAX2):c.360C>T (p.Ala120=) SNV
Germline		 Chr10:100750841 Conflicting classifications of pathogenicity Condition: not provided
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA222240 rs_41291450

7 SubmittersRCV000080358RCV001085904RCV001699201
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) SNV
Germline		 Chr10:100806498 Pathogenic Condition: not provided
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233167 rs_76492282

7 SubmittersRCV000144378RCV001813758RCV002498654RCV001808402
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter) SNV
Germline		 Chr10:100806519 Pathogenic Renal coloboma syndrome
Condition: not provided		 No Assertion Criteria Provided
 CA233171 rs_75399846

2 SubmittersRCV000014815RCV000144380
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) SNV
Germline		 Chr10:100824660 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
PAX2-related disorder		 Criteria Provided
Conflicting Classifications
 CA233182 rs_78738655

5 SubmittersRCV000144385RCV000504921RCV001085420RCV004544325
NM_000278.5(PAX2):c.616+5648T>C SNV
Germline		 Chr10:100787013 Pathogenic/Likely pathogenic Condition: not provided
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5650800 rs_747453876

2 SubmittersRCV000483686RCV002489149
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) SNV
Germline		 Chr10:100750720 Pathogenic/Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378257841 rs_1554856032

4 SubmittersRCV000549890RCV001783049
NM_000278.5(PAX2):c.867C>G (p.Asn289Lys) SNV
Germline		 Chr10:100809184 Conflicting classifications of pathogenicity Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Inborn genetic diseases
PAX2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5650881 rs_199724772

5 SubmittersRCV000641655RCV002530004RCV004533353RCV004707390
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter) SNV
Germline		 Chr10:100750700 Pathogenic Renal coloboma syndrome
PAX2-related disorder		 Criteria Provided
Single Submitter
 CA378257796 rs_139724326

2 SubmittersRCV005414330RCV004527736
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter) SNV
Germline		 Chr10:100750701 Pathogenic Condition: not provided
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA378257798 rs_754146050

2 SubmittersRCV000681874RCV005223120
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg) SNV
Germline		 Chr10:100750707 Likely pathogenic Condition: not provided
Focal segmental glomerulosclerosis 7
See cases
Renal coloboma syndrome
PAX2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378257811 rs_79555199

6 SubmittersRCV000788556RCV002290036RCV003325974RCV003388597RCV004738005
NM_000278.5(PAX2):c.357G>T (p.Leu119=) SNV
Germline		 Chr10:100750838 Conflicting classifications of pathogenicity Condition: not provided
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications
 CA5650704 rs_543423053

2 SubmittersRCV000893073RCV002065590
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) SNV
Germline		 Chr10:100749850 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA213063354 rs_759356936

3 SubmittersRCV001029782RCV001391111
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) SNV
Germline		 Chr10:100749772 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA378257466 rs_1845366198

1 SubmittersRCV001037111
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu) SNV
Germline		 Chr10:100779506 Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378258256 rs_865906227

1 SubmittersRCV001169839
NM_000278.5(PAX2):c.70G>T (p.Gly24Trp) SNV
Germline		 Chr10:100749772 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378257465 rs_1845366198

1 SubmittersRCV001281302
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) SNV
Germline		 Chr10:100750824 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378258078 rs_1845412705

5 SubmittersRCV001281257RCV002499441RCV001702888
NM_000278.5(PAX2):c.*7C>A SNV
Germline		 Chr10:100827626 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA1139661652 rs_1848626159

1 SubmittersRCV001281256
NM_000278.5(PAX2):c.497-1G>A SNV
Germline		 Chr10:100781245 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378258426 rs_1846609262

1 SubmittersRCV001281259
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) SNV
Germline		 Chr10:100749773 Conflicting classifications of pathogenicity Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
PAX2-related disorder		 Criteria Provided
Conflicting Classifications
 CA378257468 rs_201239919

2 SubmittersRCV001369569RCV004528489
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) SNV
Germline		 Chr10:100779505 Pathogenic PAX2-related disorder
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378258254 rs_1217241110

3 SubmittersRCV004531187RCV001377630
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) SNV
Germline		 Chr10:100750731 Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378257862 rs_2133836340

3 SubmittersRCV001385353RCV004815521
NM_000278.5(PAX2):c.430C>T (p.Gln144Ter) SNV
Germline		 Chr10:100779517 Pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA378258278 rs_2133894054

1 SubmittersRCV001390508
NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter) SNV
Germline		 Chr10:100809223 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378259474 rs_2133956435

1 SubmittersRCV001385354
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) SNV
Germline		 Chr10:100806570 Conflicting classifications of pathogenicity Renal coloboma syndrome
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5650844 rs_770703982

4 SubmittersRCV001542408RCV002032531RCV005453313
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter) SNV
Germline		 Chr10:100750791 Pathogenic PAX2-related disorder
Renal coloboma syndrome
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378258000 rs_922533851

4 SubmittersRCV001733843RCV002243456RCV005225461
NM_000278.5(PAX2):c.211A>G (p.Arg71Gly) SNV
Germline		 Chr10:100749913 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378257762 rs_2133834027

1 SubmittersRCV001808303
NM_000278.5(PAX2):c.275C>T (p.Thr92Met) SNV
Germline		 Chr10:100750756 Likely pathogenic Steroid-resistant nephrotic syndrome
Focal segmental glomerulosclerosis
Renal coloboma syndrome		 No Assertion Criteria Provided
 CA378257919 rs_1845411121

2 SubmittersRCV001849675RCV005414340
NM_000278.5(PAX2):c.445C>T (p.Pro149Ser) SNV
Germline		 Chr10:100779532 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA378258315 rs_1401507282

2 SubmittersRCV001976197RCV004651879
NM_000278.5(PAX2):c.785C>A (p.Ser262Ter) SNV
Germline		 Chr10:100806598 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378259212 rs_2133950621

1 SubmittersRCV001910668
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg) SNV
Germline		 Chr10:100749772 Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378257467 rs_1845366198

1 SubmittersRCV001976574
NM_000278.5(PAX2):c.506C>T (p.Thr169Met) SNV
Germline		 Chr10:100781255 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5650751 rs_758091898

2 SubmittersRCV001910183RCV004955809
NM_000278.5(PAX2):c.409A>T (p.Arg137Ter) SNV
Germline		 Chr10:100750890 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378258215 rs_2492900437

1 SubmittersRCV002283783
NM_000278.5(PAX2):c.792+2T>C SNV
Germline		 Chr10:100806607 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378259233 rs_2493150282

1 SubmittersRCV003074946
NM_000278.5(PAX2):c.449C>T (p.Thr150Met) SNV
Germline		 Chr10:100779536 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications
 CA5650726 rs_373723559

2 SubmittersRCV002637312
NM_000278.5(PAX2):c.44-2A>G SNV
Germline		 Chr10:100749744 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA5650641 rs_560454433

1 SubmittersRCV002593113
NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter) SNV
Germline		 Chr10:100806563 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter
 CA378259130 rs_2493149922

1 SubmittersRCV002662664
NM_000278.5(PAX2):c.915G>C (p.Val305=) SNV
Germline		 Chr10:100809232 Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications
 CA5650891 rs_754252858

2 SubmittersRCV002717114
NM_000278.5(PAX2):c.212+1G>T SNV
Germline		 Chr10:100749915 Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378257767 rs_2492893824

2 SubmittersRCV002999881RCV004577569
NM_000278.5(PAX2):c.43+1G>A SNV
Germline		 Chr10:100746304 Pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter
 CA378257278 rs_1845169599

1 SubmittersRCV003027543
NM_000278.5(PAX2):c.871G>T (p.Glu291Ter) SNV
Unknown		 Chr10:100809188 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378259401 rs_2493164063

1 SubmittersRCV003314477
NM_000278.5(PAX2):c.793-1G>A SNV
Germline		 Chr10:100809109 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378259238 rs_2493163498

1 SubmittersRCV003388805
NM_000278.5(PAX2):c.71G>T (p.Gly24Val) SNV
Germline		 Chr10:100749773 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378257469 rs_201239919

3 SubmittersRCV003813044
NM_000278.5(PAX2):c.1109-2A>G SNV
Germline		 Chr10:100827541 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378260164 rs_2493239110

1 SubmittersRCV003988782
NM_000278.5(PAX2):c.389C>G (p.Pro130Arg) SNV
Germline		 Chr10:100750870 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378258172 rs_2492900329

1 SubmittersRCV003991814
NM_000278.5(PAX2):c.1096C>T (p.Pro366Ser) SNV
Germline		 Chr10:100827083 Conflicting classifications of pathogenicity Inborn genetic diseases
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications
 CA378260128 rs_1317595421

2 SubmittersRCV004502868RCV005220905
NM_000278.5(PAX2):c.254G>A (p.Gly85Asp) SNV
Germline		 Chr10:100750735 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA378257873 rs_2133836347

1 SubmittersRCV004555326
NM_000278.5(PAX2):c.799G>T (p.Glu267Ter) SNV
Germline		 Chr10:100809116 Pathogenic PAX2-related disorder
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV004736711RCV005218272
NM_000278.5(PAX2):c.1035C>T (p.Ser345=) SNV
Germline		 Chr10:100827022 Conflicting classifications of pathogenicity Inborn genetic diseases
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004956935RCV005221113
NM_000278.5(PAX2):c.583C>T (p.Arg195Cys) SNV
Germline		 Chr10:100781332 Conflicting classifications of pathogenicity Inborn genetic diseases
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004956937RCV005218362
NM_000278.5(PAX2):c.169C>T (p.Gln57Ter) SNV
Germline		 Chr10:100749871 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005037382
NM_000278.5(PAX2):c.227G>A (p.Gly76Asp) SNV
Germline		 Chr10:100750708 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005027004
NM_000278.5(PAX2):c.845C>A (p.Ser282Ter) SNV
Germline		 Chr10:100809162 Likely pathogenic Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005037416
NM_000278.5(PAX2):c.344G>C (p.Arg115Pro) SNV
Germline		 Chr10:100750825 Conflicting classifications of pathogenicity Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Renal coloboma syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005054970RCV005223194
NM_000278.5(PAX2):c.361G>T (p.Glu121Ter) SNV
Germline		 Chr10:100750842 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter

1 SubmittersRCV005223886
NM_000278.5(PAX2):c.213-2A>G SNV
Germline		 Chr10:100750692 Pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter

1 SubmittersRCV005228992
NM_000278.5(PAX2):c.217T>C (p.Tyr73His) SNV
Germline		 Chr10:100750698 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005403805
NM_000278.5(PAX2):c.906C>G (p.Tyr302Ter) SNV
Germline		 Chr10:100809223 Pathogenic Renal coloboma syndrome No Assertion Criteria Provided

1 SubmittersRCV005414356
NM_000278.5(PAX2):c.497-1G>T SNV
Germline		 Chr10:100781245 Likely pathogenic Renal coloboma syndrome No Assertion Criteria Provided

1 SubmittersRCV005414421