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
POLA1	gene	POLA1	Expert Review Amber;Literature	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220;XLPDR				15844784;27019227;19377476		False	2	0;100;0	1.33	False		ENSG00000101868	ENSG00000101868	HGNC:9173													
RAD51C	gene	RAD51C	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group O, 613390;{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi Anemia;Fanconi Anaemia				20400963		False	2	67;33;0	1.33	False		ENSG00000108384	ENSG00000108384	HGNC:9820