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
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