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 AGXT gene AGXT Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000172482 ENSG00000172482 HGNC:341 APRT gene APRT Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198931 ENSG00000198931 HGNC:626 ATP6V0A4 gene ATP6V0A4 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116039 ENSG00000116039 HGNC:853 CA2 gene CA2 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000104267 ENSG00000104267 HGNC:1373 CASR gene CASR Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000036828 ENSG00000036828 HGNC:1514 CLCN5 gene CLCN5 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLDN16 gene CLDN16 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164007 ENSG00000164007 HGNC:2040 CYP24A1 gene CYP24A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000019186 ENSG00000019186 HGNC:2602 FAM20A gene FAM20A Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000108950 ENSG00000108950 HGNC:23015 GRHPR gene GRHPR Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137106 ENSG00000137106 HGNC:4570 HNF4A gene HNF4A Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPRT1 gene HPRT1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165704 ENSG00000165704 HGNC:5157 KCNJ1 gene KCNJ1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000151704 ENSG00000151704 HGNC:6255 OCRL gene OCRL Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000122126 ENSG00000122126 HGNC:8108 SLC12A1 gene SLC12A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC22A12 gene SLC22A12 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC26A1 gene SLC26A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC2A9 gene SLC2A9 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC3A1 gene SLC3A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC7A9 gene SLC7A9 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A3R1 gene SLC9A3R1 Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000109062 ENSG00000109062 HGNC:11075 VDR gene VDR Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000111424 ENSG00000111424 HGNC:12679 XDH gene XDH Expert Review Green;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000158125 ENSG00000158125 HGNC:12805 ADCY10 gene ADCY10 Expert list;Expert Review Amber;Victorian Clinical Genetics Services Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Renal and urinary tract disorders Unknown False 2 0;0;0 0.3 False ENSG00000143199 ENSG00000143199 HGNC:21285