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
ACVR2B	gene	ACVR2B	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome;Heterotaxy, visceral, 4, autosomal, 613751				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000114739	ENSG00000114739	HGNC:174													
NODAL	gene	NODAL	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome;Heterotaxy, visceral, 5, 270100;Visceral Heterotaxy, Heterotaxy, Visceral, 5, Autosomal				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
ZIC3	gene	ZIC3	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Isomerism and laterality disorders	Congenital heart disease	Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	x-linked Heterotaxy syndrome, Visceral, 1;Heterotaxy, visceral, 1, X-linked 306955;Visceral Heterotaxy, Heterotaxy, Visceral, 1, X-Linked				doi:10.1016/j.ejmg.2005.12.003		False	3	0;0;0	0.10	False		ENSG00000156925	ENSG00000156925	HGNC:12874