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		Renal		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	2.17	True		ENSG00000197565	ENSG00000197565	HGNC:2208													
NPHS2	gene	NPHS2	Expert Review Red;NHS GMS;UKGTN	Haematuria		Renal		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	2.17	True		ENSG00000116218	ENSG00000116218	HGNC:13394