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
ARHGEF1	gene	ARHGEF1	Expert list;Expert Review Amber	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal				Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	32048120;30521495;16286020		False	2	0;100;0	1.12	True		ENSG00000076928	ENSG00000076928	HGNC:681													
BLK	gene	BLK	Expert Review Amber;Literature	Common Variable Immunodeficiency		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	common variable immunodeficiency			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	25926555		False	2	0;100;0	1.12	True		ENSG00000136573	ENSG00000136573	HGNC:1057													
CTNNBL1	gene	CTNNBL1	Expert Review Amber;Literature	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 	619846"			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	32484799		False	2	0;100;0	1.12	True		ENSG00000132792	ENSG00000132792	HGNC:15879													
ICOSLG	gene	ICOSLG	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	31532372;30498080		False	2	0;100;0	1.12	True		ENSG00000160223	ENSG00000160223	HGNC:17087													
MS4A1	gene	MS4A1	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 5, MIM# 613495			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	20038800		False	2	0;50;50	1.12	True		ENSG00000156738	ENSG00000156738	HGNC:7315													
RAC2	gene	RAC2	Expert list;Expert Review Amber	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Common variable immunodeficiency			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	25512081;32048120;14564011		False	2	0;100;0	1.12	True		ENSG00000128340	ENSG00000128340	HGNC:9802													
TNFRSF13C	gene	TNFRSF13C	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Common Variable Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 4, MIM# 613494			Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701	19666484;26613719		False	2	0;100;0	1.12	True		ENSG00000159958	ENSG00000159958	HGNC:17755