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
ADCY1	gene	ADCY1	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	autosomal recessive nonsyndromic deafness 44				24482543		False	1	0;0;0	0.66	False		ENSG00000164742	ENSG00000164742	HGNC:232													
AGTR2	gene	AGTR2	ClinGen;Expert Review Red;Other	ClinGen Gene Validity Curations			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	X-linked non-syndromic intellectual disability;Orphanet:777				22269148;12089445;19501643;18335189		False	1	0;0;100	0.66	True		ENSG00000180772	ENSG00000180772	HGNC:338													
AKAP9	gene	AKAP9	ClinGen;Expert Review Red;Other	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Long Qt Syndrome 11;OMIM:611820;Orphanet:101016				18093912;11799244		False	1	0;0;100	0.66	True		ENSG00000127914	ENSG00000127914	HGNC:379													
CHD1L	gene	CHD1L	ClinGen;Expert Review Red;Other	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Renal or urinary tract malformation (CAKUT);ORPHA93545				24429398;22146311		False	1	0;0;100	0.66	False		ENSG00000131778	ENSG00000131778	HGNC:1916													
CRYM	gene	CRYM	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	autosomal dominant nonsyndromic deafness 40 				12471561;18448257;24676347;26915689;16740909;17264173		False	1	0;0;0	0.66	False		ENSG00000103316	ENSG00000103316	HGNC:2418													
MYO9A	gene	MYO9A	ClinGen;Expert Review Red;Other	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis;OrphaNet: ORPHA109007				26752647;9819351;10409426;22305756		False	1	0;0;0	0.66	False		ENSG00000066933	ENSG00000066933	HGNC:7608													
NHP2	gene	NHP2	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis Congenita;OrphaNet ORPHA1775; OMIM 613987				18523010;20008900;25467444;11160879		False	1	0;0;0	0.66	False		ENSG00000145912	ENSG00000145912	HGNC:14377													
PSD3	gene	PSD3	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Antecubital pterygium syndrome				26752647		False	1	0;0;0	0.66	False		ENSG00000156011	ENSG00000156011	HGNC:19093													
RAD51D	gene	RAD51D	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary breast cancer;OrphaNet ORPHA227535;OMIM 614291				25445424;21822267;22652533;22415235;10749867;17942895;15781618		False	1	0;0;0	0.66	False		ENSG00000185379	ENSG00000185379	HGNC:9823													
SCN4B	gene	SCN4B	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT Syndrome;OrphaNet ORPHA768;OMIM 611819				17592081		False	1	0;0;0	0.66	False		ENSG00000177098	ENSG00000177098	HGNC:10592													
TMPO	gene	TMPO	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dilated Cardiomyopathy				16247757		False	1	0;0;0	0.66	False		ENSG00000120802	ENSG00000120802	HGNC:11875													
VPS8	gene	VPS8	ClinGen;Expert Review Red	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis;OrphaNet ORPHA1037; OMIM108120				26752647;8969229;23840658		False	1	0;0;0	0.66	False		ENSG00000156931	ENSG00000156931	HGNC:29122