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
COL2A1	gene	COL2A1	ClinGen;Expert Review Amber;Other	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spondyloepiphyseal dysplasia (Stanescu type);OMIM 616583				26183434;26183434;26420734;8325895;1881905;1946380;1881905;1946380		False	2	0;0;0	0.66	False		ENSG00000139219	ENSG00000139219	HGNC:2200													
DMXL2	gene	DMXL2	ClinGen;Expert Review Amber;Other	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sensorineural Hearing Loss;ORPHA90636;OMIM:612186				27657680;22875945		False	2	0;0;0	0.66	False		ENSG00000104093	ENSG00000104093	HGNC:2938													
HNRNPK	gene	HNRNPK	ClinGen;Expert Review Amber;Other	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation;OMIM:616580;Orphanet:453499 				26173930;26954065;26638989		False	2	0;100;0	0.66	False		ENSG00000165119	ENSG00000165119	HGNC:5044													
LAMB1	gene	LAMB1	ClinGen;Expert Review Amber;Other	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 5;OrphaNet: 352682; OMIM:615191				23472759;17525174		False	2	0;0;0	0.66	False		ENSG00000091136	ENSG00000091136	HGNC:6486													
LBR	gene	LBR	ClinGen;Expert Review Amber;Other	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia;ORPHA448267				25348816;23824842;21327105;19940018;12490533		False	2	0;0;0	0.66	False		ENSG00000143815	ENSG00000143815	HGNC:6518													
RAD51C	gene	RAD51C	ClinGen;Expert Review Amber	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia;OrphaNet ORPHA84;OMIM 613390				20400963;22167183		False	2	0;0;0	0.66	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
SMARCA1	gene	SMARCA1	ClinGen;Expert Review Amber	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris Syndrome;ORPHA1465				26539891;26740508		False	2	0;0;0	0.66	False		ENSG00000102038	ENSG00000102038	HGNC:11097													
SOS2	gene	SOS2	ClinGen;Expert Review Amber	ClinGen Gene Validity Curations			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome;OrphaNet ORPHA648;OMIM616559				25795793;26173643;10938118		False	2	0;0;0	0.66	False		ENSG00000100485	ENSG00000100485	HGNC:11188													
WRAP53	gene	WRAP53	ClinGen;Expert Review Amber	ClinGen Gene Validity Curations			BIALLELIC, autosomal or pseudoautosomal	 Dyskeratosis Congenita;OrphaNet ORPHA1775;OMIM613988				21205863;25467444;21072240;21602826		False	2	0;0;0	0.66	False		ENSG00000141499	ENSG00000141499	HGNC:25522