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 BRAF gene BRAF Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 19416762, 19206169 False 3 100;0;0 1.33 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA2 gene BRCA2 Expert Review Green;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 D1, OMIM:605724 PMID: 12065746;16825431 False 3 100;0;0 1.33 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;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 J, OMIM:609054 PMID: 16116424;16116423 False 3 100;0;0 1.33 False ENSG00000136492 ENSG00000136492 HGNC:20473 FANCA gene FANCA Expert Review Green;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 A, 227650;Fanconi Anemia;Fanconi Anaemia 8896564;9371798 False 3 100;0;0 1.33 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;Fanconi Anemia Type B;Fanconi Anaemia 15502827 False 3 100;0;0 1.33 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;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 C, 227645;Fanconi Anemia;Fanconi Anaemia False 3 100;0;0 1.33 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;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 D2, 227646;Fanconi Anemia;Fanconi Anaemia 11239453 False 3 100;0;0 1.33 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;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 E, 600901;Fanconi Anemia;Fanconi Anaemia False 3 100;0;0 1.33 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;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 F, 603467;Fanconi Anemia;Fanconi Anaemia False 3 100;0;0 1.33 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;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 G, 614082;Fanconi Anemia;Fanconi Anaemia 9806548 False 3 100;0;0 1.33 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;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 I, 609053;Fanconi Anemia;Fanconi Anaemia 17452773 False 3 100;0;0 1.33 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;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 L, 614083;Fanconi Anemia;Fanconi Anaemia 19405097;25754594 False 3 100;0;0 1.33 False ENSG00000115392 ENSG00000115392 HGNC:20748 GNAS gene GNAS Expert Review Green;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown McCune-Albright syndrome, somatic, mosaic, OMIM:174800;panostotic fibrous dysplasia, MONDO:0043168 1944469;1594625 False 3 50;0;50 1.33 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000087460 ENSG00000087460 HGNC:4392 KITLG gene KITLG Expert Review Green;Literature Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperpigmentation with or without hypopigmentation, 145250 False 3 100;0;0 1.33 True Other - please provide details in the comments ENSG00000049130 ENSG00000049130 HGNC:6343 MLH1 gene MLH1 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 9927033 False 3 100;0;0 1.33 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 11809679 False 3 100;0;0 1.33 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 16000562, 15340263,16283678,11809679 False 3 100;0;0 1.33 False ENSG00000116062 ENSG00000116062 HGNC:7329 NF1 gene NF1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, familial spinal;Familial Spinal Neurofibromatosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Watson syndrome, 162200 False 3 100;0;0 1.33 False ENSG00000196712 ENSG00000196712 HGNC:7765 PALB2 gene PALB2 Expert Review Green;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 N, 610832;{Breast cancer, susceptibility to}, 114480;{Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi Anemia;Fanconi Anaemia 17200671;17200672 False 3 100;0;0 1.33 False ENSG00000083093 ENSG00000083093 HGNC:26144 PMS2 gene PMS2 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 25691505,15077197 False 3 100;0;0 1.33 False ENSG00000122512 ENSG00000122512 HGNC:9122 PTPN11 gene PTPN11 Expert Review;Expert Review Green;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 12058348 False 3 100;0;0 1.33 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review;Expert Review Green;Literature;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 17603483 False 3 100;0;0 1.33 False ENSG00000132155 ENSG00000132155 HGNC:9829 SLX4 gene SLX4 Expert Review Green;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 P, 613951;Fanconi Anemia;Fanconi Anaemia 21240275;21240277 False 3 100;0;0 1.33 False ENSG00000188827 ENSG00000188827 HGNC:23845 SPRED1 gene SPRED1 Expert Review Green;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome, 611431 17704776;19366998 False 3 100;0;0 1.33 False ENSG00000166068 ENSG00000166068 HGNC:20249 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 ERCC4 gene ERCC4 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F, 278760;XFE progeroid syndrome, 610965;Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia False 1 75;25;0 1.33 False ENSG00000175595 ENSG00000175595 HGNC:3436 FANCM gene FANCM Expert Review Red;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 M, 614087;Fanconi Anemia;Fanconi Anaemia 16116422;19423727;25078778 False 1 50;25;25 1.33 False ENSG00000187790 ENSG00000187790 HGNC:23168 MAP2K1 gene MAP2K1 Expert Review Red;Literature Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 25423878 False 1 0;0;100 1.33 False ENSG00000169032 ENSG00000169032 HGNC:6840 UBE2T gene UBE2T Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group T, 616435 26046368 False 1 0;100;0 1.33 False ENSG00000077152 ENSG00000077152 HGNC:25009 ISCA-37431-Loss region Expert Review Green;ClinGen Neurofibromatosis Type 1 Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 3 0;0;0 1.33 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss