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 COL4A6 gene COL4A6 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Haematuria Syndromes with prominent renal abnormalities Renal and urinary tract disorders diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); (originally on Alport syndrome gene panel) False 1 0;100;0 2.13 True ENSG00000197565 ENSG00000197565 HGNC:2208 NPHS2 gene NPHS2 Expert Review Red;NHS GMS;UKGTN Haematuria Syndromes with prominent renal abnormalities Renal and urinary tract disorders Hematuria, Benign Familial;Alport Syndrome, X-Linked;Alport Syndrome, Autosomal Recessive;Alport Syndrome, Autosomal Dominant;Nephrotic Syndrome, Type 2;?Modifier of COL4A variants 26138234 False 1 0;33;67 2.13 True ENSG00000116218 ENSG00000116218 HGNC:13394