Total 58 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 Likely pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 CA256966 rs_79555199

2 SubmittersRCV000014810
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 Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA222240 rs_41291450

7 SubmittersRCV001085904RCV001699201RCV000080358
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

6 SubmittersRCV000144378RCV001813758RCV001808402RCV002498654
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 Focal segmental glomerulosclerosis 7
Renal coloboma syndrome
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.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
 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
 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
 rs_759356936

2 SubmittersRCV001029782RCV001391111
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
 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
 rs_1845366198

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

5 SubmittersRCV001281257RCV001702888RCV002499441
NM_000278.5(PAX2):c.*7C>A SNV
Germline		 Chr10:100827626 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter
 rs_1848626159

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

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

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

3 SubmittersRCV001377630RCV004531187
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) SNV
Germline		 Chr10:100750731 Pathogenic/Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 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
 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
 rs_2133956435

1 SubmittersRCV001385354
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter) SNV
Germline		 Chr10:100750791 Pathogenic PAX2-related disorder
Renal coloboma syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_922533851

2 SubmittersRCV001733843RCV002243456
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
 rs_2133950621

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

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

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

1 SubmittersRCV003074946
NM_000278.5(PAX2):c.44-2A>G SNV
Germline		 Chr10:100749744 Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter

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

1 SubmittersRCV002662664
NM_000278.5(PAX2):c.212+1G>T SNV
Germline		 Chr10:100749915 Pathogenic/Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 7		 Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

1 SubmittersRCV003388805
NM_000278.5(PAX2):c.71G>T (p.Gly24Val) SNV
Germline		 Chr10:100749773 Likely pathogenic Renal coloboma syndrome
Focal segmental glomerulosclerosis 7		 Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003991814
NM_000278.5(PAX2):c.254G>A (p.Gly85Asp) SNV
Germline		 Chr10:100750735 Pathogenic Renal coloboma syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555326