Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CLCN5 gene CLCN5 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tubulointerstitial disease;Dent disease;Nephropathy of unknown origin;Glomerulopathy;MIM 300009 False 3 0;100;0 0.9 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A3 gene COL4A3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertensive nephropathy;MIM 104200, 203780;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulopathy;Thin basement membrane disease;Alport syndrome, autosomal dominant/recessive;141200 False 3 0;100;0 0.9 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BOTH monoallelic and biallelic, autosomal or pseudoautosomal MIM 203780;Hypertensive nephropathy;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulopathy;Thin basement membrane disease;Alport syndrome, autosomal dominant/recessive;141200 False 3 0;100;0 0.9 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MIM 301050;Congenital or cystic renal disease;Nephropathy of unknown origin;Alport syndrome, X-linked;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000188153 ENSG00000188153 HGNC:2207 CREBBP gene CREBBP Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Rubinstein-Taybi syndrome 1;Nephropathy of unknown origin;MIM 180849;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000005339 ENSG00000005339 HGNC:2348 DHCR7 gene DHCR7 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;Congenital or cystic renal disease;Nephropathy of unknown origin;MIM 270400;Smith-Lemli-Opitz syndrome False 3 0;100;0 0.9 False ENSG00000172893 ENSG00000172893 HGNC:2860 EYA1 gene EYA1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 113650;Branchiootorenal syndrome 1 with or without cataracts False 3 0;100;0 0.9 False ENSG00000104313 ENSG00000104313 HGNC:3519 GLA gene GLA Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tubulointerstitial disease;Other;Fabry disease;MIM 301500 False 3 0;100;0 0.9 False ENSG00000102393 ENSG00000102393 HGNC:4296 HBB gene HBB Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Other;Nephropathy of unknown origin;Sickle cell disease;MIM 603903 False 3 0;100;0 0.9 False ENSG00000244734 ENSG00000244734 HGNC:4827 HNF1A gene HNF1A Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MODY type III;Nephropathy of unknown origin;Diabetic nephropathy;MIM 600496 False 3 0;100;0 0.9 False ENSG00000135100 ENSG00000135100 HGNC:11621 INF2 gene INF2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis focal segmental 5;Nephropathy of unknown origin;Hypertensive nephropathy;Glomerulopathy;MIM 613237 False 3 0;100;0 0.9 False ENSG00000203485 ENSG00000203485 HGNC:23791 NPHP3 gene NPHP3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 604387;Nephronophthisis 3;Nephropathy of unknown origin;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Nephropathy of unknown origin;MIM 606966;Nephronophthisis 4 False 3 0;100;0 0.9 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS2 gene NPHS2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Nephropathy of unknown origin;Hypertensive nephropathy;Glomerulopathy;Nephrotic syndrome type 2;MIM 600995 False 3 0;100;0 0.9 False ENSG00000116218 ENSG00000116218 HGNC:13394 PAX2 gene PAX2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 616002;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulosclerosis focal segmental 7;Glomerulopathy;Papillorenal syndrome;120330 False 3 0;100;0 0.9 False ENSG00000075891 ENSG00000075891 HGNC:8616 PKD1 gene PKD1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Nephropathy of unknown origin;Polycystic kidney disease 1;MIM 173900 False 3 0;100;0 0.9 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2;Congenital or cystic renal disease;MIM 613095 False 3 0;100;0 0.9 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, autosomal recessive;Congenital or cystic renal disease;Nephropathy of unknown origin;MIM 263200 False 3 0;100;0 0.9 False ENSG00000170927 ENSG00000170927 HGNC:9016 SLC12A3 gene SLC12A3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;MIM 263800;Glomerulopathy;Gitelman syndrome False 3 0;100;0 0.9 False ENSG00000070915 ENSG00000070915 HGNC:10912 TRPC6 gene TRPC6 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 603965;Nephropathy of unknown origin;Glomerulopathy;Glomerulosclerosis focal segmental 2 False 3 0;100;0 0.9 False ENSG00000137672 ENSG00000137672 HGNC:12338 UMOD gene UMOD Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;Hypertensive nephropathy;162000;Congenital or cystic renal disease;603860;Nephropathy of unknown origin;Autosomal dominant tubulointerstitial kidney disease, UMOD-associated;Glomerulopathy;MIM 609886 False 3 0;100;0 0.9 False ENSG00000169344 ENSG00000169344 HGNC:12559 AVP gene AVP Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 125700;Congenital or cystic renal disease;Nephropathy of unknown origin;Diabetes insipidus, neurohypophyseal False 2 0;100;0 0.9 False ENSG00000101200 ENSG00000101200 HGNC:894 CRB2 gene CRB2 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Focal segmental glomerulosclerosis 9;Glomerulopathy;MIM 616220 False 2 0;100;0 0.9 False ENSG00000148204 ENSG00000148204 HGNC:18688 NF1 gene NF1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 162200;Neurofibromatosis type 1 False 2 0;100;0 0.9 False ENSG00000196712 ENSG00000196712 HGNC:7765 NPHS1 gene NPHS1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 256300;Nephrotic syndrome type 1;Glomerulopathy False 2 0;100;0 0.9 False ENSG00000161270 ENSG00000161270 HGNC:7908 PTPN11 gene PTPN11 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1;MIM 163950;Nephropathy of unknown origin;Diabetic nephropathy False 2 0;100;0 0.9 False ENSG00000179295 ENSG00000179295 HGNC:9644 SLC3A1 gene SLC3A1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;Congenital or cystic renal disease;Hypertensive nephropathy;Cystinuria;MIM 220100 False 2 0;100;0 0.9 False ENSG00000138079 ENSG00000138079 HGNC:11025