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 AQP2 gene AQP2 Expert list;Expert Review Green Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, MIM#125800 7537761;11536078 False 3 0;0;0 0.4 False ENSG00000167580 ENSG00000167580 HGNC:634 ATP6V0A4 gene ATP6V0A4 Expert list;Expert Review Green Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, distal, autosomal recessive, MIM#602722 10973252;12414817 False 3 0;0;0 0.4 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000116039 ENSG00000116039 HGNC:853 AVPR2 gene AVPR2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000126895 ENSG00000126895 HGNC:897 BSND gene BSND Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000162399 ENSG00000162399 HGNC:16512 CA2 gene CA2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000104267 ENSG00000104267 HGNC:1373 CLCN5 gene CLCN5 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKA gene CLCNKA Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000184908 ENSG00000184908 HGNC:2027 COQ9 gene COQ9 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000088682 ENSG00000088682 HGNC:25302 EHHADH gene EHHADH Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000113790 ENSG00000113790 HGNC:3247 GATM gene GATM Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000171766 ENSG00000171766 HGNC:4175 HNF4A gene HNF4A Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000101076 ENSG00000101076 HGNC:5024 KCNJ1 gene KCNJ1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000177807 ENSG00000177807 HGNC:6256 MAGED2 gene MAGED2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000102316 ENSG00000102316 HGNC:16353 OCRL gene OCRL Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000122126 ENSG00000122126 HGNC:8108 SLC12A1 gene SLC12A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC22A12 gene SLC22A12 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A2 gene SLC2A2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC3A1 gene SLC3A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC7A9 gene SLC7A9 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000021488 ENSG00000021488 HGNC:11067 VIPAS39 gene VIPAS39 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal tubulopathies_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000184056 ENSG00000184056 HGNC:12712