Comprehensive and Hereditary Cancer Panel

Test code: HE1401

Is a 348 panel that includes assessment of non-coding variants.

Is ideal for patients with a clinical suspicion of hematological disorder with genetic predisposition to malignancies.

This panel is designed to detect heritable germline and should not be used for the detection of somatic mutations in tumor tissue.

Is not recommended for patients suspected to have due to alpha- (HBA1 or HBA2). These are highly homologous reducing detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome).

Is not recommended for patients with a suspicion of severe Hemophilia A if the common inversions are not excluded by previous testing. An intron 22 inversion of the F8 gene is identified in 43%-45% individuals with severe hemophilia A and intron 1 inversion in 2%-5% (GeneReviews NBK1404; PMID:8275087, 8490618, 29296726, 27292088, 22282501, 11756167). This test does not detect reliably these inversions.

Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome).

About Comprehensive Hematology and Hereditary Cancer

Inherited hematological diseases are a group of blood disorders with variable clinical presentation. Many of them predispose to malignancies and for example patients with inherited marrow failure syndromes () have a high risk of developing cancer, either leukemia or solid tumors. Genetic testing is the most effective way to identify individuals with inherited hematological diseases and a genetic predisposition to develop malignancies. Accurate genetic diagnosis enables personal cancer risk assessment and inherited genetic variant can be taken into account when planning the treatment and the follow-up of both unaffected and affected persons. In most of the cases, cancer mortality can be significantly reduced in high- risk individuals by regular surveillance and preventive strategies.

Gene Set Description

Genes in the Comprehensive Hematology and Hereditary Cancer Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD

ABCA3 Interstitial lung disease, Surfactant metabolism dysfunction, AR 11 287 pulmonary

ABCB7 Anemia, sideroblastic, and XL 8 9

ABCG5 Sitosterolemia AR 13 42

ABCG8 Sitosterolemia AR 18 44

ACD , autosomal dominant 6, Dyskeratosis AD/AR 2 8 congenita, autosomal recessive 7

ACTB* Baraitser-Winter syndrome AD 55 60

ACTN1 Bleeding disorder, platelet- AD 7 25

https://blueprintgenetics.com/ ADAMTS13 Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, AR 30 183 familial

AIP Pituitary adenoma, familial isolated AD 53 110

AK1 Adenylate kinase deficiency, due to AR 8 10

AK2 Reticular dysgenesis AR 14 17

ALAS2 Anemia, sideroblastic, Protoporphyria, erythropoietic XL 27 103

ALK Neuroblastoma AD 31 15

AMN -1, Norwegian AR 29 34

ANK1 AD/AR 20 105

ANKRD26 Thrombocytopenia AD 6 21

AP3B1 Hermansky-Pudlak syndrome AR 14 34

AP3D1 Hermansky-Pudlak syndrome 10 AR 1 4

APC Gardner syndrome, Desmoid disease, hereditary, Familial AD 773 1926 adenomatous polyposis

ARPC1B Platelet abnormalities with eosinophilia and immune-mediated AR 2 4 inflammatory disease

ATM Breast cancer, Ataxia-Telangiectasia AD/AR 1047 1109

ATR Cutaneous telangiectasia and cancer syndrome, AD/AR 10 33

ATRX Carpenter-Waziri syndrome, Alpha-thalassemia/mental retardation XL 65 165 syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith- Fineman-Myers syndrome, Mental retardation-hypotonic facies syndrome

AXIN2 Oligodontia-colorectal cancer syndrome, Oligondontia, isolated AD 19 18

BAP1 Tumor predisposition syndrome AD 74 113

BARD1 Breast cancer AD 159 114

BLM Bloom syndrome AR 152 119

BLOC1S3 Hermansky-Pudlak syndrome AR 2 4

BLOC1S6 Hermansky-Pudlak syndrome AR 1 2

BMPR1A* Polyposis, juvenile intestinal AD 110 140

BRAF* LEOPARD syndrome, , Cardiofaciocutaneous AD 134 65 syndrome

BRCA1* Pancreatic cancer, Breast-ovarian cancer, familial AD 2997 2631

BRCA2 Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic AD/AR 3369 2659 cancer, Wilms tumor, Breast-ovarian cancer, familial

BRIP1 Fanconi anemia, Breast cancer AD/AR 238 189

https://blueprintgenetics.com/ BUB1B Mosaic variegated aneuploidy syndrome, Premature chromatid AD/AR 14 28 separation trait

C15ORF41 Congenital dyserythropoietic anemia AR 3 3

CBL Noonan syndrome-like disorder with or without juvenile AD 24 43 myelomonocytic leukemia

CD70 Primary AR 4

CDAN1 Anemia, dyserythropoietic congenital AR 12 61

CDC42 Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotype AD 11 9

CDC73 Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism- AD 50 101 jaw tumor syndrome

CDH1 CDH1-related cancer, Blepharocheilodontic syndrome 1 AD 178 242

CDK4 Melanoma, cutaneous malignant AD 4 14

CDKN1B Multiple endocrine neoplasia AD 13 20

CDKN1C Beckwith-Wiedemann syndrome, IMAGE syndrome AD 35 81

CDKN2A Melanoma, familial, Melanoma-pancreatic cancer syndrome AD 87 232

CEBPA Acute myeloid leukemia, familial AD 15 13

CEP57 Mosaic variegated aneuploidy syndrome AR 5 5

CHEK2* Li-Fraumeni syndrome AD/AR 275 197

CLCN7 AD/AR 15 98

CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, AR 26 25 and (MEGCANN)

CSF2RA* Surfactant metabolism dysfunction, pulmonary XL 2 17

CSF3R Neutrophilia, hereditary AD 13 13

CTC1 Cerebroretinal microangiopathy with calcifications and cysts AR 21 33

CTSC Periodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre AR 19 92 syndrome

CUBN* Megaloblastic anemia-1, Finnish AR 42 53

CXCR4 , , , and AD 5 15 (WHIM) syndrome

CYB5R3 due to methemoglobin reductase deficiency AR 21 71

CYCS* Thrombocytopenia AD 2 3

CYLD Spiegler-Brooke syndrome, Trichoepithelioma, multiple, AD 34 106 Cylindromatosis

DDB2 Xeroderma pigmentosum AR 4 17

https://blueprintgenetics.com/ DDX41 Familial myeloproliferative/lymphoproliferative neoplasms, multiple AD 9 21 types, susceptibility to

DHFR* Megaloblastic anemia due to dihydrofolate reductase deficiency AR 2 5

DICER1* DICER1 syndrome AD 197 137

DIS3L2* Perlman syndrome AR 12 14

DKC1 Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita XL 48 74

DNAJC21 Bone marrow failure syndrome 3 AR 5 11

DNASE2 2

DTNBP1 Hermansky-Pudlak syndrome AR 2 3

EFL1 Shwachman-Diamond syndrome 3 2

EGFR Lung cancer, familial, susceptibilty to, Inflammatory skin and bowel AD/AR 55 18 disease, neonatal, Acute myeloid leukemia, familial

EGLN1* , high altitude adapation AD 3 64

ELANE Neutropenia AD 43 217

EPAS1 Erthyrocytosis, familial 4 AD 3 30

EPB41 Ellipsocytosis 1 AR 6 12

EPB42 Spherocytosis AR 8 17

EPCAM Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, AD/AR 38 80 hereditary nonpolyposis

EPOR Erythrocytosis, familial, 1 AD 4 32

ERCC1 Cerebrooculofacioskeletal syndrome 4 AR 8 5

ERCC2 Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, AR 26 98 Cerebrooculofacioskeletal syndrome 2

ERCC3 Xeroderma pigmentosum, Trichothiodystrophy, photosensitive AR 10 19

ERCC4 Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndrome AR 13 70

ERCC5 Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne AR 21 54 syndrome

ERCC6L2 Bone marrow failure syndrome 2 AR 4 9

ETV6 Thrombocytopenia 5 AD 10 38

EXO1 Lynch syndrome AD/AR 1 14

EXT1 Multiple cartilagenious exostoses 1 AD 97 523

EXT2 Multiple cartilagenious exostoses 2 AD 45 250

EZH2 Weaver syndrome AD 29 41

https://blueprintgenetics.com/ F10 Factor X deficiency AR 15 155

F11 Factor XI deficiency AD/AR 77 271

F12 , Factor XII deficiency AD/AR 7 53

F13A1 Factor XIIIA deficiency AR 20 180

F13B Factor XIIIB deficiency AR 4 18

F2 Thrombophilia due to thrombin defect, Prothrombin deficiency, AD/AR 14 66 congenital

F5 Factor V deficiency, Thrombophilia due to activated C AD/AR 19 157 resistance

F7 Factor VII deficiency AR 27 322

F8* Hemophilia A XL 296 3205

F9 Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX XL 117 1281 defect

FADD Infections, recurrent, with encephalopathy, hepatic dysfunction, and AR 2 1 cardiovascular malformations

FAM111B Hereditary Fibrosing with Tendon Contracture, AD 7 7 Myopathy, and Pulmonary Fibrosis, Lung cancer, familial, susceptibilty to

FANCA Fanconi anemia AR 191 677

FANCB Fanconi anemia XL 11 21

FANCC Fanconi anemia AR 94 64

FANCD2* Fanconi anemia AR 21 61

FANCE Fanconi anemia AR 4 17

FANCF Fanconia anemia AR 7 16

FANCG Fanconi anemia AR 16 92

FANCI Fanconi anemia AR 13 45

FANCL Fanconi anemia AR 13 24

FANCM Fanconi anemia AR 6 50

FAS Autoimmune lymphoproliferative syndrome AD/AR 31 133

FASLG Autoimmune lymphoproliferative syndrome, type IB AD 2 10

FGA Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, AD/AR 10 144 Hypodysfibrinogenemia, congenital, Familial visceral amyloidosis

FGB Afibrinogenemia, congenital, Dysfibrinogenemia, congenital, AD/AR 6 92 Hypodysfibrinogenemia, congenital

https://blueprintgenetics.com/ FGG Afibrinogenemia, congenital, Hypodysfibrinogenemia, AD/AR 7 127 Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital

FH Hereditary leiomyomatosis and renal cancer AD/AR 178 207

FLCN Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous AD 154 210

FLI1 Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet AD 7 7 type 21

FLNA Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, XL 133 257 Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects

FYB Thrombocytopenia 3 AR 2 2

G6PC3 Neutropenia, severe congenital, Dursun syndrome AR 11 37

G6PD Glucose-6-phosphate dehydrogenase deficiency XL 45 226

GALNT12 Colorectal cancer, susceptibility to, 1, Inflammatory bowel disease AD 8

GATA1 Anemia, without thrombocytopenia, Thrombocytopenia with beta- XL 21 15 thalessemia,, Dyserythropoietic anemia with thrombocytopenia

GATA2 Myelodysplastic syndrome, Chronic neutropenia associated with AD 30 142 monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, Immunodeficiency

GBA* Gaucher disease AR 84 488

GCLC Gamma-glutamylcysteine synthetase deficiency AR 2 7

GFI1 Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, AD 2 6 nonimmune chronic idiopathic, of adults

GFI1B Bleeding disorder, platelet-type, 17 AD 6 9

GGCX -like disorder with multiple coagulation AD/AR/Digenic 13 42 factor deficiency, Vitamin K-dependent clotting factors, combined deficiency

GINS1 Immunodeficiency AR 4 4

GP1BA Pseudo-von Willebrand disease, Bernard-Soulier syndrome AD/AR 9 73

GP1BB Giant platelet disorder, isolated, Bernard-Soulier syndrome AD/AR 5 53

GP9 Bernard-Soulier syndrome AR 6 42

GPC3 Simpson-Golabi-Behmel syndrome XL 33 75

GPI Hemolytic anemia, nonspherocytic due to glucose phosphate AR 11 41 isomerase deficiency

GPR143 Nystagmus, congenital, Ocular XL 22 181

GREM1 Hereditary mixed polyposis syndrome AD/AR 1 8

GSS Glutathione synthetase deficiency AR 8 38

https://blueprintgenetics.com/ HAX1 Neutropenia, severe congenital AR 11 21

HBA1* Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia AR/Digenic 27 214 (Hemoglobin H disease)

HBA2*,# Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia AR/Digenic 44 290 (Hemoglobin H disease)

HBB , Thalassemia-beta, dominant inclusion body, Other AD/AR/Digenic 242 865 /, Beta-thalassemia, Hereditary persistence of fetal hemogoblin

HFE Hemochromatosis AR/Digenic 11 56

HNF1A Maturity onset diabetes of the young, Renal cell carcinoma, AD 78 528 nonpapillary clear cell, Liver adenomatosis

HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia AD 1 1

HOXB13 Familial prostate cancer AD/AR 1 5

HPS1* Hermansky-Pudlak syndrome AR 28 55

HPS3* Hermansky-Pudlak syndrome AR 10 17

HPS4 Hermansky-Pudlak syndrome AR 16 22

HPS5 Hermansky-Pudlak syndrome AR 20 31

HPS6 Hermansky-Pudlak syndrome AR 13 37

HRAS , Congenital myopathy with excess of muscle AD 43 31 spindles

IFNGR2 Immunodeficiency AR 4 18

IKZF1# Immunodeficiency, common variable, 13 AD 10 35

ITGA2 Fetal and neonatal alloimmune thrombocytopenia AD/AR 5

ITGA2B Glanzmann thrombasthenia AD/AR 22 234

ITGB3 Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, AD/AR 18 165 Glanzmann thrombasthenia

ITK Lymphoproliferative syndrome AR 4 11

JAGN1 Neutropenia, severe congenital AR 8 8

JAK2 Thrombocythemia 3 AD 12 22

KIF23 Anemia, dyserythropoietic congenital AD 1 3

KIT Gastrointestinal stromal tumor, AD 79 116

KITLG with or without hypopigementation, familial AD 6 10 progressive, Skin/hair/eye pigmentation, variation in, 7

KLF1 Anemia, dyserythropoietic congenital, Blood group, Lutheran AD/BG 16 45 inhibitor, Hereditary persistence of fetal hemoglobin

https://blueprintgenetics.com/ KRAS* Noonan syndrome, Cardiofaciocutaneous syndrome AD 63 35

LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein AR 1 1

LMAN1 Combined factor V and VIII deficiency AR 5 37

LPIN2 Majeed syndrome AR 12 14

LYST* Chediak-Higashi syndrome AR 50 97

LZTR1 Schwannomatosis, Noonan syndrome AD/AR 34 71

MAGT1 Immunodeficiency, with magnesium defect, Epstein-Barr virus XL 8 14 and neoplasia, Mental retardation, X-linked 95

MAP2K1 Cardiofaciocutaneous syndrome AD 45 23

MAP2K2 Cardiofaciocutaneous syndrome AD 21 35

MASTL Thrombocytopenia AD 5

MAX Pheochromocytoma AD 13 31

MCFD2 Factor V & Factor VIII, combined deficiency of AR 8 20

MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 AD 3 27

MEN1 Hyperparathyroidism, familial primary, Multiple endocrine neoplasia AD 263 730

MET Deafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, AD/AR 20 34 susceptibility to

MITF Tietz albinism-deafness syndrome, , AD/AR 32 58 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)

MKL1 Primary immunodeficiency AR 4

MLH1 Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer AD/AR 873 1191 syndrome, Colorectal cancer, hereditary nonpolyposis

MLH3 Colorectal cancer, hereditary nonpolyposis, Endometrial carcinoma AD/AR 7 31

MPL Thrombocythemia, Amegakaryocytic thrombocytopenia AD/AR 23 55

MRE11A Ataxia-telangiectasia-like disorder-1 AR 57 56

MSH2 Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, AD/AR 933 1249 hereditary nonpolyposis,, Mismatch repair cancer syndrome

MSH3 Endometrial carcinoma, Colorectal adenomatous polyposis, AD 4 22 autosomal recessive, with pilomatricomas

MSH6 Endometrial cancer, Mismatch repair cancer syndrome, Colorectal AD/AR 672 586 cancer, hereditary nonpolyposis

MTHFD1 Severe combined immunodeficiency AR 9 11

MTR Methylmalonic acidemia AR 13 43

https://blueprintgenetics.com/ MUTYH Familial adenomatous polyposis,, Colorectal adenomatous polyposis, AR 134 168 with pilomatricomas

MYH9 Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, AD 25 117 Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17

MYO5A AR 7 9

NBEAL2 Gray platelet syndrome AR 10 51

NBN Breast cancer, Nijmegen breakage syndrome AD/AR 188 97

NF1* , Neurofibromatosis, Neurofibromatosis-Noonan AD 1157 2901 syndrome

NF2 Schwannomatosis, Neurofibromatosis AD 66 433

NHP2 Dyskeratosis congenita AR 5 3

NOP10 Dyskeratosis congenita AR 1 1

NRAS Noonan syndrome AD 31 14

NSD1 Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome AD 329 517

NSUN2 Dubowitz syndrome, Non-syndromic intellectual disability AD/AR 8 7

NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic AR 10 28 anemia due to

NTHL1 Familial adenomatous polyposis 3 AR 7 3

OCA2 Albinism, brown oculocutaneous, Albinism, oculocutaneous, AR 43 310 Skin/hair/eye pigmentation

P2RY12 Bleeding disorder, platelet- AD/AR 4 13

PALB2 Fanconi anemia, Pancreatic cancer, Breast cancer AD/AR 495 406

PARN* Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis AD/AR 15 29 congenita

PAX5 Pre- acute lymphoblastic leukemia AD 7

PC Pyruvate carboxylase deficiency AR 32 41

PDGFRA Gastrointestinal stromal tumor AD 22 19

PDHA1 Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency XL 66 192

PDHX Pyruvate dehydrogenase E3-binding protein deficiency AR 14 22

PGM3 Immunodeficiency 23 AR 14 15

PHOX2B Central hypoventilation syndrome, congenital, Neuroblastoma, AD 11 86 susceptiblity to, Neuroblastoma with Hirschsprung disease

PIEZO1 Dehydrated hereditary stomatocytosis, Lympehedema, hereditary III AD/AR 23 60

https://blueprintgenetics.com/ PKLR Pyruvate kinase deficiency, Elevation of ATP levels, AD/AR 17 277 familial

PMS1 Hereditary nonpolyposis colon cancer AD/AR 1 32

PMS2* Mismatch repair cancer syndrome, Colorectal cancer, hereditary AD/AR 319 342 nonpolyposis

POLD1 Colorectal cancer, Mandibular hypoplasia, deafness, progeroid AD/AR 3 31 features, and lipodystrophy syndrome, Idiopathic bronchiectasis, Immunodeficiency

POLE Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, AD/AR 8 70 and short stature syndrome (FILS syndrome)

POLH* Xeroderma pigmentosum, variant type AR 20 78

POT1 Glioma susceptibility 9, Melanoma, cutaneous malignant, AD 2 34 susceptibility to 10

PPM1D Hereditary breast cancer AD 16 60

PRF1 Lymphoma, non-Hodgkin, , adult-onset, AR 24 183 Hemophagocytic lymphohistiocytosis

PRKACG Bleeding disorder, platelet-type, 19 AR 1 1

PRKAR1A Myxoma, intracardiac, Acrodysostosis, Pigmented nodular AD 75 183 adrenocortical disease,

PROC Thrombophilia, hereditary AD/AR 36 387

PROS1* Thrombophilia, hereditary AD/AR 23 416

PTCH1 Basal cell nevus syndrome AD 193 522

PTEN* Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, AD 435 638

PTPN11 Noonan syndrome, Metachondromatosis AD 135 140

PUS1 Mitochondrial myopathy and AR 7 9

RAB27A Griscelli syndrome, AR 18 54

RAC2 immunodeficiency syndrome AD 2 3

RAD50 Breast cancer, Nijmegen breakage syndrome-like disorder AD/AR 183 88

RAD51C Fanconi anemia, Breast-ovarian cancer, familial AD/AR 107 125

RAD51D# Ovarian cancer, familial AD 77 78

RAF1 LEOPARD syndrome, Noonan syndrome, Dilated AD 45 53 (DCM)

RASA2# Noonan syndrome AD 1 3

RASGRP2 Bleeding disorder, platelet-type, 18 AR 3 20

RB1# Retinoblastoma AD 266 1102

https://blueprintgenetics.com/ RBM8A*,# Thrombocytopenia - absent radius AD/AR 5 12

RECQL Breast cancer AD 9 27

RECQL4 Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund- AR 82 114 Thomson syndrome

REN Hyperuricemic nephropathy, Hyperproreninemia, familial, Renal AD/AR 9 18 tubular dysgenesis

REST Fibromatosis, gingival, 5 AD 3 16

RET Hirschsprung disease, Central hypoventilation syndrome, congenital, AD/AR 122 407 Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasia

RHAG Overhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, AD/AR/BG 13 28 regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood group

RHBDF2 Tylosis with esophageal cancer AD 2 4

RIT1 Noonan syndrome AD 23 26

RNF168 RIDDLE syndrome AR 4 5

RPL11 Diamond-Blackfan anemia AD 12 45

RPL15* Diamond-Blackfan anemia AD 2 2

RPL27 Diamond-Blackfan anemia 16 1 1

RPL31 Diamond-Blackfan anemia AD 2

RPL35A Diamond-Blackfan anemia AD 7 14

RPL5 Diamond-Blackfan anemia AD 19 77

RPS10 Diamond-Blackfan anemia AD 3 5

RPS19 Diamond-Blackfan anemia AD 23 172

RPS20 Colorectal cancer AD 1

RPS24 Diamond-Blackfan anemia AD 6 10

RPS26 Diamond-Blackfan anemia AD 10 33

RPS28 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis AD 1 1

RPS29 Diamond-Blackfan anemia AD 4 4

RPS7 Diamond-Blackfan anemia AD 2 10

RRAS Noonan-syndrome like phenotype AD/AR 2

RTEL1 Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis AD/AR 58 51 congenita

RUNX1 Platelet disorder, familial, with associated myeloid malignancy AD 47 101

SAMD9 Mirage syndrome, Tumoral calcinosis, normophosphatemic AD/AR 10 27

https://blueprintgenetics.com/ SAMD9L Ataxia-pancytopenia syndrome AD 4 16

SBDS* Aplastic anemia, Shwachman-Diamond syndrome, Severe AR 19 90 spondylometaphyseal dysplasia

SDHA* Leigh syndrome/Mitochondrial respiratory chain complex II AD/AR 54 87 deficiency, Gastrointestinal stromal tumor, Paragangliomas, (DCM), Cardiomyopathy, dilated, 1GG

SDHAF2 Paragangliomas AD 4 5

SDHB Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, AD 151 272 Gastrointestinal stromal tumor, Paragangliomas, Cowden-like syndrome

SDHC Paraganglioma and gastric stromal sarcoma, Gastrointestinal stromal AD 29 60 tumor, Paragangliomas

SDHD Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, AD 68 170 Paragangliomas, Carcinoid tumors, intestinal, Cowden syndrome, Mitochondrial complex II deficiency

SEC23B Anemia, dyserythropoietic congenital AR 18 121

SERPINC1 Antithrombin III deficiency AD/AR 44 412

SERPINF2 Alpha-2-plasmin inhibitor deficiency AD/AR 4 8

SFTPB Surfactant metabolism dysfunction, pulmonary AR 5 28

SFTPC Surfactant metabolism dysfunction, pulmonary AD 8 82

SH2D1A Lymphoproliferative syndrome XL 21 129

SHOC2 Noonan-like syndrome with loose anagen hair AD 2 4

SLC11A2 Anemia, hypochromic microcytic, with overload AR 5 10

SLC19A2 Thiamine-responsive megaloblastic anemia syndrome AR 14 51

SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory AR 7 27

SLC37A4 Glycogen storage disease AR 49 113

SLC45A2 Skin/hair/eye pigmentation, AD/AR 16 156

SLC46A1 Folate malabsorption AR 17 23

SLC4A1 Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with AD/AR/BG 38 122 hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 Memphis

SLFN14 Thrombocytopenia AD/AR 4 4

SLX4 Fanconi anemia AR 18 72

SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, AD 179 143 Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasia

SMARCA4 Rhabdoid tumor predisposition syndrome AD 76 57

https://blueprintgenetics.com/ SMARCB1 Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin- AD 36 118 Siris syndrome 3

SMARCD2 Specific granule defiency 2 AR 3 1

SOS1 Noonan syndrome AD 44 71

SOS2 Noonan syndrome 9 AD 4 6

SPRED1 AD 38 71

SPTA1 Spherocytosis, Ellipsocytosis, Pyropoikilocytosis AD/AR 29 51

SPTB Spherocytosis, Anemia, neonatal hemolytic, Ellipsocytosis AD/AR 24 99

SRC Thrombocytopenia, autosomal dominant, 6 AD 2 1

SRP54 Shwachman-Diamond syndrome AD 3

SRP72* Bone marrow failure syndrome 1 AD 2 5

STK11 Peutz-Jeghers syndrome AD 173 460

STX11 Hemophagocytic lymphohistiocytosis, familial AR 8 22

STXBP2 Hemophagocytic lymphohistiocytosis, familial AR 12 77

SUFU Medulloblastoma, Basal cell nevus syndrome AD 22 44

TBXA2R Bleeding disorder, platelet- AD 1 6

TCN2 Transcobalamin II deficiency AR 9 35

TERC Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure, AD 42 73 telomere-related, Dyskeratosis congenita

TERT Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure, AD/AR 48 156 telomere-related, Dyskeratosis congenita

TF Atransferrinemia AR 8 17

THBD Thrombophilia due to thrombomodulin defect, Hemolytic uremic AD 5 28 syndrome, atypical

THPO Thrombocythemia 1 AD 5 10

TINF2 , Dyskeratosis congenita AD 25 42

TMEM127 Pheochromocytoma AD 30 52

TMPRSS6 Iron-refractory iron deficiency anemia AR 13 102

TP53 Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, AD 393 505 Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphoma

TPI1 Triosephosphate isomerase deficiency AR 8 19

https://blueprintgenetics.com/ TRNT1 and erythrocytic , Sideroblastic AR 13 26 anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

TSC1 Lymphangioleiomyomatosis, AD 177 372

TSC2 Lymphangioleiomyomatosis, Tuberous sclerosis AD 396 1195

TUBB1 Macrothrombocytopenia AD 2 7

TYR* Albinism, oculocutaneous AR 77 441

TYRP1 Albinism, oculocutaneous AR 10 55

UBE2T Fanconi anemia, complementation group T AR 2 7

UNC13D Hemophagocytic lymphohistiocytosis, familial AR 22 192

USB1 Poikiloderma with neutropenia AR 24 22

VHL Erythrocytosis, familial, Pheochromocytoma AD/AR 206 614

VKORC1 Drug metabolism, VKORC1-related, Vitamin K-dependent clotting AD/AR 4 27 factors, combined deficiency

VPS13B AR 351 203

VPS45 Neutropenia, severe congenital, 5, autosomal recessive AR 3 4

VWF* Von Willebrand disease AD/AR 57 1009

WAS Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich XL 57 439 syndrome

WDR1 AR 8

WIPF1 Wiskott-Aldrich syndrome 2 AR 2 3

WRAP53 Dyskeratosis congenita AR 7 6

WRN* Werner syndrome AR 64 107

WT1 Denys-Drash syndrome, Frasier syndrome, Wilms tumor, Nephrotic AD 42 183 syndrome, type 4

XIAP* Lymphoproliferative syndrome XL 14 96

XPA Xeroderma pigmentosum AR 49 47

XPC Xeroderma pigmentosum AR 67 91

XRCC2 Hereditary breast cancer AD/AR 10 21

YARS2 Myopathy, lactic acidosis, and sideroblastic anemia AR 27 11

*Some regions of the gene are duplicated in the genome. Read more.

# The gene has suboptimal coverage (means <90% of the gene’s target nucleotides are covered at >20x with mapping quality score (MQ>20) reads), and/or the gene has exons listed under Test limitations section that are not included in the panel as they are not sufficiently covered with high quality sequence reads.

https://blueprintgenetics.com/ The sensitivity to detect variants may be limited in genes marked with an asterisk (*) or number sign (#). Due to possible limitations these genes may not be available as single gene tests.

Gene refers to the HGNC approved gene symbol; Inheritance refers to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR), mitochondrial (mi), X-linked (XL), X-linked dominant (XLD) and X-linked recessive (XLR); ClinVar refers to the number of variants in the gene classified as pathogenic or likely pathogenic in this database (ClinVar); HGMD refers to the number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD). The list of associated, gene specific phenotypes are generated from CGD or Mitomap databases.

Non-coding disease causing variants covered by the panel

Gene Genomic location HG19 HGVS RefSeq RS-number

ABCA3 Chr16:2333457 c.3863-98C>T NM_001089.2 rs189077405

ABCA3 Chr16:2358644 c.1112-20G>A NM_001089.2 rs746701685

ABCA3 Chr16:2376495 c.-26-2A>G NM_001089.2

AIP Chr11:67250360 NM_003977.2 rs267606588

AIP Chr11:67250410 c.-220G>A NM_003977.2 rs267606540

ALAS2 ChrX:55054634 c.-15-2186C>G NM_000032.4

ALAS2 ChrX:55054635 c.-15-2187T>C NM_000032.4

ALAS2 ChrX:55054636 c.-15-2188A>G NM_000032.4

ALAS2 ChrX:55057393 c.-34C>T NM_000032.4 rs780642606

ALAS2 ChrX:55057617 c.-258C>G NM_000032.4 rs140772352

AMN Chr14:103395424 c.514-34G>A NM_030943.3 rs144077391

AMN Chr14:103396444 c.1007-31_1006+34delCCTCGCCCCGCCGCG NM_030943.3 rs386834161

AMN Chr14:103396458 c.1007-29_1006+36delTCGCCCCGCCGCGGG NM_030943.3 rs386834162

ANK1 Chr8:41566510 c.1900-17G>A NM_001142446.1 rs786205243

ANK1 Chr8:41566511 c.1900-18C>A NM_001142446.1

ANK1 Chr8:41655127 c.-73_-72delTG NM_020476.2 rs786205242

ANKRD26 Chr10:27389371 c.-116C>G NM_014915.2

ANKRD26 Chr10:27389373 c.-118C>A NM_014915.2

ANKRD26 Chr10:27389374 c.-119C>A NM_014915.2

ANKRD26 Chr10:27389374 c.-119C>A/G NM_014915.2

ANKRD26 Chr10:27389376 c.-121A>C NM_014915.2

ANKRD26 Chr10:27389380 c.-127_-126delAT NM_014915.2

ANKRD26 Chr10:27389381 c.-126T>C NM_014915.2

ANKRD26 Chr10:27389381 c.-126T>G NM_014915.2

ANKRD26 Chr10:27389382 c.-127A>G NM_014915.2

ANKRD26 Chr10:27389382 c.-127A>T NM_014915.2

ANKRD26 Chr10:27389383 c.-128G>T NM_014915.2

ANKRD26 Chr10:27389383 c.-128G>A NM_014915.2

ANKRD26 Chr10:27389383 c.-128G>C NM_014915.2

ANKRD26 Chr10:27389389 c.-134G>A NM_014915.2 rs863223318

APC Chr5:112043009–112043595

APC Chr5:112043220 c.-195A>C NM_001127511.2

APC Chr5:112043223 c.-192A>G/T NM_001127511.2

https://blueprintgenetics.com/ APC Chr5:112043223 c.-192A>G NM_001127511.2 rs879253784

APC Chr5:112043223 c.-192A>T NM_001127511.2

APC Chr5:112043224 c.-191T>C NM_001127511.2

APC Chr5:112043225 c.-190G>A NM_001127511.2

APC Chr5:112043289 c.-125delA NM_001127511.2

APC Chr5:112072710–112073585

APC Chr5:112111314 c.423-12A>G NM_000038.5

APC Chr5:112111315 c.423-11A>G NM_000038.5

APC Chr5:112115546 c.532-941G>A NM_000038.5 rs730881227

APC Chr5:112151175 c.835-17A>G NM_000038.5

APC Chr5:112158419 c.1408+731C>T NM_000038.5

APC Chr5:112158423 c.1408+735A>T NM_000038.5

ATM Chr11:108093770 c.-174A>G NM_000051.3

ATM Chr11:108094508 c.-31+595G>A NM_000051.3

ATM Chr11:108098321 c.-30-1G>T NM_000051.3 rs869312754

ATM Chr11:108138753 c.2639-384A>G NM_000051.3

ATM Chr11:108141209 c.2839-579_2839-576delAAGT NM_000051.3

ATM Chr11:108151710 c.3403-12T>A NM_000051.3 rs201370733

ATM Chr11:108158168 c.3994-159A>G NM_000051.3 rs864622543

ATM Chr11:108164028 c.4612-12A>G NM_000051.3

ATM Chr11:108179837 c.5763-1050A>G NM_000051.3 rs774925473

ATM Chr11:108214779 c.8418+681A>G NM_000051.3 rs748635985

BAP1 Chr3:52435659 c.*644delG NM_004656.3

BRCA1 Chr17:41196352 c.*1340_*1342delTGT NM_007294.3 rs1281551853

BRCA1 Chr17:41196424 c.*1271T>C NM_007294.3

BRCA1 Chr17:41197167 c.*528G>C NM_007294.3 rs1060504556

BRCA1 Chr17:41197588 c.*103_*106delTGTC NM_007294.3 rs431825382

BRCA1 Chr17:41197637 c.*58C>T NM_007294.3 rs137892861

BRCA1 Chr17:41197859 c.5468-40T>A NM_007294.3 rs80358151

BRCA1 Chr17:41199745 c.5407-25T>A NM_007294.3 rs758780152

BRCA1 Chr17:41201232 c.5333-36_5333-22delTACTGCAGTGATTTT NM_007294.3

BRCA1 Chr17:41206122 c.5277+2916_5277+2946delAAATTCTAGTGCTTTGGATTTTTTCCTCCATinsGG NM_007294.3

BRCA1 Chr17:41209164 c.5194-12G>A NM_007294.3 rs80358079

BRCA1 Chr17:41215994 c.5075-27delA NM_007294.3

BRCA1 Chr17:41251909 c.442-22_442-13delTGTTCTTTAC NM_007294.3 rs879254224

BRCA1 Chr17:41256984 c.213-11T>G NM_007294.3 rs80358061

BRCA1 Chr17:41256985 c.213-12A>G NM_007294.3 rs80358163

BRCA1 Chr17:41256988 c.213-15A>G NM_007294.3

BRCA1 Chr17:41276134 c.-19-2A>G NM_007294.3

BRCA2 Chr13:32889805 c.-40+1G>A NM_000059.3

BRCA2 Chr13:32890469 c.-39-89delC NM_000059.3

BRCA2 Chr13:32890556 c.-39-1_-39delGA NM_000059.3 rs758732038

BRCA2 Chr13:32890558 c.-39-1G>A NM_000059.3 rs1060499566

https://blueprintgenetics.com/ BRCA2 Chr13:32900222 c.426-12_426-8delGTTTT NM_000059.3 rs276174844

BRCA2 Chr13:32945079 c.8488-14A>G NM_000059.3

BRCA2 Chr13:32953872 c.8954-15T>G NM_000059.3

BRCA2 Chr13:32971007 c.9502-28A>G NM_000059.3 rs397508059

BRCA2 Chr13:32971023 c.9502-12T>G NM_000059.3 rs81002803

BRIP1 Chr17:59858864 c.1629-498A>T NM_032043.2

BUB1B Chr15:40409289 c.-44133G>A NM_001211.5 rs576524605

BUB1B Chr15:40504689 c.2386-11A>G NM_001211.5 rs751421137

CDH1 Chr16:68842843 c.687+92T>A NM_004360.3

CDKN1B Chr12:12870317 c.-454_-451delTTCC NM_004064.3 rs786201010

CDKN1C Chr11:2905209 c.*5+20G>T NM_000076.2 rs760540648

CDKN2A Chr9:21968346 c.458-105A>G NM_000077.4

CDKN2A Chr9:21972311 c.151-1104C>G NM_000077.4

CDKN2A Chr9:21973573 c.150+1104C>A NM_000077.4 rs756102261

CDKN2A Chr9:21974401 c.*73+2T>G NM_058197.4

CDKN2A Chr9:21974847 c.-21C>T NM_000077.4

CDKN2A Chr9:21974875 c.-49C>A NM_000077.4 rs1064797383

CDKN2A Chr9:21974882 c.-56G>T NM_000077.4

CDKN2A Chr9:21974916 c.-93_-91delAGG NM_000077.4

CLCN7 Chr16:1506057 c.916+57A>T NM_001287.5

CLCN7 Chr16:1507356 c.739-18G>A NM_001287.5 rs371893553

CTSC Chr11:88070895 c.-55C>A NM_001814.4 rs766114323

CUBN Chr10:17088532 c.3330-439C>G NM_001081.3 rs386833782

CYLD Chr16:50813428 c.1139-148A>G NM_015247.2

DICER1 Chr14:95559038 c.5364+1187T>G NM_177438.2

DKC1 ChrX:153991099 c.-142C>G NM_001363.3 rs199422241

DKC1 ChrX:153991100 c.-141C>G NM_001363.3

DKC1 ChrX:153993704 c.85-15T>C NM_001363.3

EPCAM Chr2:47606078 c.556-14A>G NM_002354.2 rs376155665

ERCC1 Chr19:45918244 c.603-26G>A NM_202001.2 rs367887072

ERCC5 Chr13:103514354 c.881-26T>G NM_000123.3

F11 Chr4:187186995 c.-456G>A NM_000128.3

F11 Chr4:187197061 c.595+11A>G NM_000128.3 rs534170853

F11 Chr4:187205426 c.1304+12G>A NM_000128.3 rs116667976

F12 Chr5:176836590 NM_000505.3 rs187018744

F13A1 Chr6:6320800 c.-19_-19+19delGGTAAGCCACCGACCCTGCA NM_000129.3

F2 Chr11:46742048 c.241-25C>G NM_000506.3

F2 Chr11:46761055 c.*97G>A NM_000506.4 rs1799963

F2 Chr11:46761064 c.*106T>A NM_000506.3

F2 Chr11:46761066 c.*108C>T NM_000506.3 rs562369397

F5 Chr1:169494158 c.5717-12T>A NM_000130.4

F5 Chr1:169521527 c.1296+268A>G NM_000130.4

F5 Chr1:169521984 c.1119-12C>G NM_000130.4

https://blueprintgenetics.com/ F7 Chr13:113760060 c.-96C>T NM_000131.4

F7 Chr13:113760062 c.-94C>G NM_000131.4

F7 Chr13:113760091 c.-65G>C NM_000131.4

F7 Chr13:113760094 NM_000131.4

F7 Chr13:113760094 c.-62C>T NM_000131.4

F7 Chr13:113760095 c.-61T>G NM_000131.4

F7 Chr13:113760096 NM_000131.4

F7 Chr13:113760096 NM_000131.4

F7 Chr13:113760097 c.-59T>G NM_000131.4

F7 Chr13:113760099 c.-57C>T NM_000131.4

F7 Chr13:113760101 NM_000131.4

F7 Chr13:113760101 NM_000131.4

F7 Chr13:113760112 c.-44T>C NM_000131.4 rs577393666

F7 Chr13:113760117 c.-39A>G NM_000131.4

F7 Chr13:113760124 c.-32A>C NM_000131.4 rs761212787

F7 Chr13:113760126 c.-30A>C NM_000131.4 rs539578931

F7 Chr13:113764993 c.131-11G>A NM_000131.4

F7 Chr13:113766228 c.291+1065delC NM_000131.4

F7 Chr13:113770192 c.571+78G>A NM_000131.4 rs764741909

F7 Chr13:113771068 c.572-12T>A NM_000131.4

F8 ChrX:154084603 c.6900+4104A>T NM_000132.3

F8 ChrX:154091516 c.6430-14A>G NM_000132.3

F8 ChrX:154130453 c.5999-11G>A NM_000132.3 rs782132907

F8 ChrX:154130463 c.5999-23_5999-22delCT NM_000132.3

F8 ChrX:154130464 c.5999-33_5999-22delGAAATAATTTCTinsATTC NM_000132.3

F8 ChrX:154130469 c.5999-33_5999-28delGAAATA NM_000132.3

F8 ChrX:154130719 c.5999-277G>A NM_000132.3

F8 ChrX:154131240 c.5999-798G>A NM_000132.3

F8 ChrX:154132376 c.5816-14_5816-13delGTinsTA NM_000132.3

F8 ChrX:154132397 c.5816-34A>T NM_000132.3 rs782301004

F8 ChrX:154132892 c.5587-93C>T NM_000132.3

F8 ChrX:154134863 c.5220-16_5220-15insA NM_000132.3

F8 ChrX:154174820 c.2113+1152delA NM_000132.3

F8 ChrX:154175961 c.2113+12T>A NM_000132.3

F8 ChrX:154176219 c.1904-37G>A NM_000132.3 rs367615232

F8 ChrX:154185464 c.1538-18G>A NM_000132.3

F8 ChrX:154189025 c.1537+325A>G NM_000132.3

F8 ChrX:154189458 c.1444-15C>A NM_000132.3

F8 ChrX:154197841 c.788-14T>G NM_000132.3

F8 ChrX:154213089 c.671-11T>C NM_000132.3

F8 ChrX:154215591 c.602-11T>G NM_000132.3

F8 ChrX:154215612 c.602-32A>G NM_000132.3

F8 ChrX:154219579 c.601+1632G>A NM_000132.3 rs387906429

https://blueprintgenetics.com/ F8 ChrX:154221439 c.389-16T>G NM_000132.3

F8 ChrX:154227886 c.144-11T>G NM_000132.3

F8 ChrX:154227901 c.144-26A>T NM_000132.3

F8 ChrX:154238632 c.144-10758_144-10757insTATA NM_000132.3

F8 ChrX:154249118 c.143+1567A>G NM_000132.3

F8 ChrX:154250939 c.-112G>A NM_000132.3 rs1317271565

F8 ChrX:154251045 c.-218T>C NM_000132.3

F8 ChrX:154251045 NM_000132.3

F8 ChrX:154251046 c.-219C>T NM_000132.3

F8 ChrX:154251048 c.-221T>A NM_000132.3

F8 ChrX:154251082 c.-255A>G NM_000132.3

F8 ChrX:154251084 c.-257T>C/G NM_000132.3

F8 ChrX:154251084 NM_000132.3

F8 ChrX:154251084 NM_000132.3

F8 ChrX:154251687 c.-860A>G NM_000132.3

F8 ChrX:154251793 c.-966G>T NM_000132.3

F9 ChrX:138612869 c.-55G>A/C/T NM_000133.3

F9 ChrX:138612869 NM_000133.3

F9 ChrX:138612869 NM_000133.3

F9 ChrX:138612869 NM_000133.3

F9 ChrX:138612871 c.-53A>G NM_000133.3

F9 ChrX:138612871 NM_000133.3

F9 ChrX:138612872 c.-52C>G/T NM_000133.3

F9 ChrX:138612872 NM_000133.3

F9 ChrX:138612872 NM_000133.3

F9 ChrX:138612874 c.-50T>C/G NM_000133.3

F9 ChrX:138612874 NM_000133.3

F9 ChrX:138612874 NM_000133.3

F9 ChrX:138612875 c.-49T>A/C NM_000133.3

F9 ChrX:138612875 NM_000133.3

F9 ChrX:138612875 NM_000133.3 rs1178811105

F9 ChrX:138612876 c.-48G>C NM_000133.3

F9 ChrX:138612886 c.-38A>G NM_000133.3

F9 ChrX:138612889 c.-35G>A/C NM_000133.3

F9 ChrX:138612889 NM_000133.3 rs1166164399

F9 ChrX:138612889 NM_000133.3

F9 ChrX:138612890 c.-34A>G/T NM_000133.3

F9 ChrX:138612890 NM_000133.3

F9 ChrX:138612890 NM_000133.3

F9 ChrX:138612899 c.-22delT NM_000133.3

F9 ChrX:138612900 c.-24T>A NM_000133.3

F9 ChrX:138612901 c.-23T>C NM_000133.3

F9 ChrX:138612902 c.-22T>C NM_000133.3

https://blueprintgenetics.com/ F9 ChrX:138612903 c.-21C>G NM_000133.3

F9 ChrX:138612905 c.-19C>G NM_000133.3

F9 ChrX:138612905 c.-17delA NM_000133.3

F9 ChrX:138612906 c.-18A>G/T NM_000133.3

F9 ChrX:138612906 c.-18A>T NM_000133.3

F9 ChrX:138612906 c.-18A>G NM_000133.3

F9 ChrX:138612907 c.-17A>C/G NM_000133.3

F9 ChrX:138612907 c.-17A>C NM_000133.3

F9 ChrX:138612907 c.-17A>G NM_000133.3

F9 ChrX:138619496 c.253-25A>G/T NM_000133.3

F9 ChrX:138619496 c.253-25A>T NM_000133.3

F9 ChrX:138619496 c.253-25A>G NM_000133.3 rs1201753038

F9 ChrX:138619501 c.253-19_253-16delCTTC NM_000133.3

F9 ChrX:138619502 c.253-16_253-12delCTTTT NM_000133.3

F9 ChrX:138623222 c.278-13A>G NM_000133.3

F9 ChrX:138623223 c.278-12C>G/T NM_000133.3

F9 ChrX:138623223 c.278-12C>G NM_000133.3

F9 ChrX:138623223 c.278-12C>T NM_000133.3 rs1475223858

F9 ChrX:138630499 c.392-22_392-21delCT NM_000133.3

F9 ChrX:138630663 c.520+13A>G NM_000133.3

F9 ChrX:138633441 c.723+18T>A NM_000133.3

F9 ChrX:138645387 c.*1157A>G NM_000133.3

F9 ChrX:138645598 c.*1368A>G NM_000133.3

FANCA Chr16:89805127 c.4261-19_4261-12delACCTGCTC NM_000135.3

FANCA Chr16:89816056 c.3239+82T>G NM_000135.2

FANCA Chr16:89818822 c.2982-192A>G NM_000135.2

FANCA Chr16:89831215 c.2778+83C>G NM_000135.2 rs750997715

FANCA Chr16:89836111 c.2504+134A>G NM_000135.2

FANCA Chr16:89836805 c.2223-138A>G NM_000135.2

FANCA Chr16:89849346 c.1567-20A>G NM_000135.2 rs775154397

FANCA Chr16:89864654 c.893+920C>A NM_000135.2

FANCC Chr9:98011653 c.-78-2A>G NM_000136.2 rs587779898

FANCC Chr9:98079807 c.-79+1G>A NM_000136.2

FANCD2 Chr3:10083186 c.696-121C>G NM_033084.3

FANCD2 Chr3:10102127 c.1766+40T>G NM_033084.3

FANCD2 Chr3:10106024 c.1948-16T>G NM_033084.3

FANCI Chr15:89825208 c.1583+142C>T NM_001113378.1

FANCL Chr2:58433394 c.375-2033C>G NM_001114636.1

FAS Chr10:90770494 c.506-16A>G NM_000043.4

FASLG Chr1:172628081 c.-261T>C NM_000639.1

FGB Chr4:155486360 c.115-600A>G NM_005141.4

FGB Chr4:155490472 c.958+13C>T NM_005141.4 rs606231223

FGG Chr4:155527225 c.1129+632A>G NM_021870.2 rs2066862

https://blueprintgenetics.com/ FGG Chr4:155527787 c.1129+66_1129+69delAATA NM_021870.2 rs139788771

FGG Chr4:155530122 c.667-320A>T NM_021870.2

FLNA ChrX:153581587 c.6023-27_6023-16delTGACTGACAGCC NM_001110556.1

GATA1 ChrX:48649496 c.-19-2A>G NM_002049.3

GATA2 Chr3:128202131 c.1017+572C>T NM_032638.4

GATA2 Chr3:128202162 c.1017+513_1017+540delGGAGTTTCCTATCCGGACATCTGCAGCC NM_032638.4

GATA2 Chr3:128202171 c.1017+532T>A NM_032638.4

GBA Chr1:155205646 c.1225-14_1225-11delTGTCinsAGT NM_000157.3

GBA Chr1:155208109 c.589-12C>G NM_000157.3

GBA Chr1:155211053 c.-150A>G NM_000157.3 rs1232943445

GINS1 Chr20:25388397 c.-60A>G NM_021067.3

GINS1 Chr20:25388409 c.-48C>G NM_021067.3

GP1BB Chr22:19710933 c.-160C>G NM_000407.4 rs730882059

GPR143 ChrX:9708630 c.885+748G>A NM_000273.2

GPR143 ChrX:9711844 c.659-131T>G NM_000273.2

GSS Chr20:33537864 c.129+1663A>G NM_000178.2

GSS Chr20:33543525 c.-9+5G>A NM_000178.2

HBA1 Chr16:227471 c.*63_*65delCCT NM_000558.3

HBA2 Chr16:223646 c.*47G>C NM_000517.4 rs4021971

HBA2 Chr16:223672 c.*74_*89delCCTTCCTGGTCTTTGA NM_000517.4 rs63750919

HBA2 Chr16:223690 c.*93_*94delAA NM_000517.4 rs63751268

HBA2 Chr16:223691 c.*92A>G NM_000517.4 rs63750067

HBA2 Chr16:223693 c.*94A>G NM_000517.4

HBA2 Chr16:223693 c.*94A>C NM_000517.4

HBA2 Chr16:223703 c.*104G>T NM_000517.4

HBB Chr11:5246696 c.*132C>A/T NM_000518.4

HBB Chr11:5246696 c.*132C>A NM_000518.4 rs1420779550

HBB Chr11:5246696 c.*132C>T NM_000518.4

HBB Chr11:5246699 c.*129T>C NM_000518.4

HBB Chr11:5246711 c.*115_*116delAA NM_000518.4 rs281864532

HBB Chr11:5246713 c.*110_*114delTAAAA NM_000518.4 rs606231219,rs35949130

HBB Chr11:5246715 c.*113A>G NM_000518.4 rs33985472

HBB Chr11:5246716 c.*112A>G/T NM_000518.4 rs63750954

HBB Chr11:5246716 c.*112A>T NM_000518.4

HBB Chr11:5246716 c.*112A>G NM_000518.4

HBB Chr11:5246716 c.*110_*111delTA NM_000518.4 rs63750205,rs281864905

HBB Chr11:5246717 c.*111A>G NM_000518.4 rs63751128

HBB Chr11:5246718 c.*110T>A/C NM_000518.4 rs33978907

HBB Chr11:5246718 c.*110T>G NM_000518.4

HBB Chr11:5246720 c.*108A>C/G NM_000518.4

HBB Chr11:5246720 c.*108A>C NM_000518.4

HBB Chr11:5246720 c.*108A>G NM_000518.4

HBB Chr11:5246722 c.*93_*105delATCTGGATTCTGC NM_000518.4 rs34171453

https://blueprintgenetics.com/ HBB Chr11:5246732 c.*96T>C NM_000518.4 rs34029390

HBB Chr11:5246754 c.*74A>G NM_000518.4 rs369101035

HBB Chr11:5246781 c.*47C>G NM_000518.4

HBB Chr11:5246796 c.*32A>C NM_000518.4

HBB Chr11:5246970 c.316-14T>G NM_000518.4 rs35703285

HBB Chr11:5247046 c.316-90A>G NM_000518.4 rs63750433

HBB Chr11:5247062 c.316-106C>G NM_000518.4 rs34690599

HBB Chr11:5247102 c.316-146T>G NM_000518.4 rs35328027

HBB Chr11:5247153 c.316-197C>T NM_000518.4 rs34451549

HBB Chr11:5247216 c.316-260T>C NM_000518.4

HBB Chr11:5247602 c.315+203_315+205delTCTinsCC NM_000518.4

HBB Chr11:5248044 c.93-15T>G NM_000518.4 rs35456885

HBB Chr11:5248050 c.93-21G>A NM_000518.4 rs35004220

HBB Chr11:5248050 c.93-22delT NM_000518.4

HBB Chr11:5248263 c.-12C>T NM_000518.4 rs113115948

HBB Chr11:5248269 c.-18C>G NM_000518.4 rs34135787

HBB Chr11:5248272 c.-21T>A NM_000518.4

HBB Chr11:5248280 c.-29G>A/T NM_000518.4 rs34704828

HBB Chr11:5248281 c.-31delC NM_000518.4

HBB Chr11:5248282 c.-31C>T NM_000518.4 rs63750628

HBB Chr11:5248291 c.-41delT NM_000518.4 rs35352549

HBB Chr11:5248294 c.-43C>T NM_000518.4

HBB Chr11:5248301 c.-50A>C NM_000518.4 rs34305195

HBB Chr11:5248301 c.-50A>G/T NM_000518.4

HBB Chr11:5248326 c.-75G>T NM_000518.4

HBB Chr11:5248326 c.-75G>C NM_000518.4 rs63750400

HBB Chr11:5248326 NM_000518.4 rs63750953

HBB Chr11:5248327 c.-76A>C NM_000518.4 rs281864525

HBB Chr11:5248328 c.-77A>G/T NM_000518.4

HBB Chr11:5248328 NM_000518.4

HBB Chr11:5248328 NM_000518.4

HBB Chr11:5248329 c.-78A>C/G NM_000518.4 rs33931746

HBB Chr11:5248329 NM_000518.4

HBB Chr11:5248329 NM_000518.4

HBB Chr11:5248330 c.-79A>G NM_000518.4 rs34598529

HBB Chr11:5248330 NM_000518.4 rs397509430

HBB Chr11:5248331 c.-80T>A/C NM_000518.4 rs33980857

HBB Chr11:5248331 NM_000518.4

HBB Chr11:5248331 NM_000518.4

HBB Chr11:5248332 c.-81A>C/G NM_000518.4 rs33981098

HBB Chr11:5248332 NM_000518.4

HBB Chr11:5248332 NM_000518.4

HBB Chr11:5248333 c.-82C>A/T NM_000518.4 rs34500389

https://blueprintgenetics.com/ HBB Chr11:5248333 NM_000518.4

HBB Chr11:5248333 NM_000518.4

HBB Chr11:5248342 c.-91A>C NM_000518.4

HBB Chr11:5248343 c.-92C>G NM_000518.4 rs397515291

HBB Chr11:5248351 c.-100G>A NM_000518.4 rs281864524

HBB Chr11:5248372 c.-121C>T NM_000518.4 rs281864518

HBB Chr11:5248373 NM_000518.4 rs1272414751

HBB Chr11:5248374 c.-123A>T NM_000518.4

HBB Chr11:5248377 c.-126C>A NM_000518.4

HBB Chr11:5248378 c.-127G>C NM_000518.4

HBB Chr11:5248384 NM_000518.4 rs72561473

HBB Chr11:5248387 c.-136C>A/G/T NM_000518.4 rs33994806

HBB Chr11:5248387 NM_000518.4

HBB Chr11:5248387 NM_000518.4

HBB Chr11:5248387 NM_000518.4

HBB Chr11:5248388 c.-137C>A/G/T NM_000518.4 rs33941377

HBB Chr11:5248388 NM_000518.4

HBB Chr11:5248388 NM_000518.4

HBB Chr11:5248388 NM_000518.4

HBB Chr11:5248389 c.-138C>A/T NM_000518.4 rs33944208

HBB Chr11:5248389 NM_000518.4

HBB Chr11:5248389 NM_000518.4

HBB Chr11:5248391 NM_000518.4 rs34999973

HBB Chr11:5248393 c.-142C>T NM_000518.4 rs34883338

HBB Chr11:5248394 c.-143C>G NM_000518.4 rs63751043

HBB Chr11:5248402 c.-151C>T NM_000518.4 rs63751208

HBB Chr11:5248402 NM_000518.4

HBB Chr11:5248403 c.-152C>A NM_000518.4

HBB Chr11:5248491 c.-240G>A NM_000518.4 rs753344875

HBB Chr11:5248524 c.-273T>C NM_000518.4 rs139703273

HFE Chr6:26087649 c.-20G>A NM_000410.3 rs138378000

HNF1A Chr12:121416034 c.-538G>C NM_000545.5

HNF1A Chr12:121416110 c.-462G>A NM_000545.5

HNF1A Chr12:121416281 c.-291T>C NM_000545.5 rs534474388

HNF1A Chr12:121416285 c.-287G>A NM_000545.5

HNF1A Chr12:121416285 NM_000545.5

HNF1A Chr12:121416289 c.-283A>C NM_000545.5

HNF1A Chr12:121416314 c.-258A>G NM_000545.5 rs756136537

HNF1A Chr12:121416354 c.-218T>C NM_000545.5

HNF1A Chr12:121416385 c.-187C>A/T NM_000545.5

HNF1A Chr12:121416385 NM_000545.5

HNF1A Chr12:121416385 NM_000545.5 rs970766228

HNF1A Chr12:121416391 NM_000545.5

https://blueprintgenetics.com/ HNF1A Chr12:121416437 NM_000545.5

HNF1A Chr12:121416446 NM_000545.5 rs780586155

HNF1A Chr12:121416453 c.-119G>A NM_000545.5 rs371945966

HNF1A Chr12:121416475 c.-97T>G NM_000545.5

HNF1A Chr12:121416508 NM_000545.5

HPS3 Chr3:148888270 c.2888-1612G>A NM_032383.3 rs281865096

ITGA2B Chr17:42449567 c.*165T>C NM_000419.3

ITGA2B Chr17:42455177 c.2095-19T>A NM_000419.3

ITGA2B Chr17:42458507 c.1211-78A>G NM_000419.3

ITGA2B Chr17:42463181 c.408+11C>A NM_000419.3

ITGA2B Chr17:42470923 c.-4082G>A NM_000419.3

KLF1 Chr19:12998078 c.-124T>C NM_006563.3

KLF1 Chr19:12998102 NM_006563.3 rs552824864

KLF1 Chr19:12998108 c.-154C>T NM_006563.3 rs372651309

LAMTOR2 Chr1:156028185 c.*23C>A NM_014017.3

LMAN1 Chr18:57014710 c.822+34_822+35insGTTG NM_005570.3

LZTR1 Chr22:21336623 c.-38T>A NM_006767.3

LZTR1 Chr22:21350968 c.2220-17C>A NM_006767.3 rs1249726034

MEN1 Chr11:64571394 c.*412G>A NM_000244.3

MEN1 Chr11:64575165 c.670-15_670-14delTC NM_000244.3

MEN1 Chr11:64577602 c.-23-11_-22delTTGCCTTGCAGGC NM_000244.3

MEN1 Chr11:64577603 c.-23_-22insT NM_000244.3

MEN1 Chr11:64577626 c.-23-22C>A NM_000244.3

MLH1 Chr3:37034619 c.-413_-411delGAG NM_000249.3 rs953169437

MLH1 Chr3:37034932 c.-107C>G NM_000249.3 rs587778886

MLH1 Chr3:37034976 c.-63_-58delGTGATTinsCACGAGGCACGAGCACGA NM_000249.3

MLH1 Chr3:37034997 c.-42C>T NM_000249.3 rs41285097

MLH1 Chr3:37035012 c.-27C>A NM_000249.3 rs587779001

MLH1 Chr3:37035260 c.116+106G>A NM_000249.3

MLH1 Chr3:37038099 c.117-11T>A NM_000249.3 rs267607711

MLH1 Chr3:37050292 c.454-13A>G NM_000249.3 rs267607749

MLH1 Chr3:37061788 c.885-9_887dupTCCTGACAGTTT NM_000249.3 rs63751620

MLH1 Chr3:37070436 c.1558+13T>A NM_000249.3 rs267607834

MSH2 Chr2:47630106 c.-225G>C NM_000251.2 rs138068023

MSH2 Chr2:47630150 c.-181G>A NM_000251.2 rs786201698

MSH2 Chr2:47630249 c.-81dupA NM_000251.2 rs560991330,rs587779187

MSH2 Chr2:47630251 c.-78_-77delTG NM_000251.2 rs587779182

MSH2 Chr2:47698086 c.1662-17dupG NM_000251.2 rs587779099

MSH6 Chr2:48018295 c.457+33_457+34insGTGT NM_000179.2

MSH6 Chr2:48030536 c.3173-16_3173-5delCCCTCTCTTTTA NM_000179.2

MSH6 Chr2:48034014 c.*15A>C NM_000179.2

MSH6 Chr2:48034047 c.*49_*68dupTTCAGACAACATTATGATCT NM_000179.2 rs777409019

MTR Chr1:236971838 c.340-166A>G NM_000254.2

https://blueprintgenetics.com/ MTR Chr1:236977232 c.609+1088G>A NM_000254.2 rs752526782

MTR Chr1:237057461 c.3205-196A>G NM_000254.2 rs544410324

MUTYH Chr1:45797534 c.998-13T>G NM_001128425.1

MUTYH Chr1:45798558 c.504+19_504+31delTAGGGGAAATAGG NM_001128425.1 rs781222233

NF1 Chr17:29422055 c.-273A>C NM_001042492.2

NF1 Chr17:29422056 c.-272G>A NM_001042492.2

NF1 Chr17:29431417 c.60+9031_60+9035delAAGTT NM_001042492.2

NF1 Chr17:29475515 c.61-7486G>T NM_001042492.2

NF1 Chr17:29488136 c.288+2025T>G NM_001042492.2

NF1 Chr17:29508426 c.587-14T>A NM_001042492.2

NF1 Chr17:29508428 c.587-12T>A NM_001042492.2

NF1 Chr17:29510334 c.888+651T>A NM_001042492.2

NF1 Chr17:29510427 c.888+744A>G NM_001042492.2

NF1 Chr17:29510472 c.888+789A>G NM_001042492.2

NF1 Chr17:29527428 c.889-12T>A NM_001042492.2

NF1 Chr17:29530107 c.1260+1604A>G NM_001042492.2

NF1 Chr17:29533239 c.1261-19G>A NM_001042492.2

NF1 Chr17:29534143 c.1392+754T>G NM_001042492.2

NF1 Chr17:29540877 c.1393-592A>G NM_001042492.2

NF1 Chr17:29542762 c.1527+1159C>T NM_001042492.2

NF1 Chr17:29548419 c.1642-449A>G NM_001042492.2 rs863224655

NF1 Chr17:29549489 c.*481A>G NM_001128147.2

NF1 Chr17:29553439 c.2002-14C>G NM_001042492.2

NF1 Chr17:29554225 c.2252-11T>G NM_001042492.2

NF1 Chr17:29556025 c.2410-18C>G NM_001042492.2

NF1 Chr17:29556027 c.2410-16A>G NM_001042492.2

NF1 Chr17:29556028 c.2410-15A>G NM_001042492.2

NF1 Chr17:29556031 c.2410-12T>G NM_001042492.2

NF1 Chr17:29556839 c.2851-14_2851-13insA NM_001042492.2

NF1 Chr17:29557267 c.2991-11T>G NM_001042492.2

NF1 Chr17:29558777 c.3198-314G>A NM_001042492.2

NF1 Chr17:29563299 c.3974+260T>G NM_001042492.2

NF1 Chr17:29577082 c.4110+945A>G NM_001042492.2

NF1 Chr17:29580296 c.4173+278A>G NM_001042492.2

NF1 Chr17:29588708 c.4578-20_4578-18delAAG NM_001042492.2

NF1 Chr17:29588715 c.4578-14T>G NM_001042492.2

NF1 Chr17:29654479 c.5269-38A>G NM_001042492.2

NF1 Chr17:29656858 c.5610-456G>T NM_001042492.2

NF1 Chr17:29657848 c.5812+332A>G NM_001042492.2 rs863224491

NF1 Chr17:29661577 c.5813-279A>G NM_001042492.2

NF1 Chr17:29664375 c.6428-11T>G NM_001042492.2

NF1 Chr17:29664618 c.6642+18A>G NM_001042492.2

NF1 Chr17:29676126 c.7190-12T>A NM_001042492.2

https://blueprintgenetics.com/ NF1 Chr17:29676127 c.7190-11_7190-10insGTTT NM_001042492.2

NF1 Chr17:29685177 c.7971-321C>G NM_001042492.2

NF1 Chr17:29685481 c.7971-17C>G NM_001042492.2

NF1 Chr17:29685665 c.8113+25A>T NM_001042492.2

NF2 Chr22:30050946 c.516+232G>A NM_000268.3

NSUN2 Chr5:6622224 c.538-11T>G NM_017755.5

OCA2 Chr15:28234823 c.1117-11T>A NM_000275.2

OCA2 Chr15:28234829 c.1117-17T>C NM_000275.2 rs200081580

OCA2 Chr15:28235808 c.1045-15T>G NM_000275.2 rs779461179

OCA2 Chr15:28267738 c.574-19A>G NM_000275.2 rs145242923

PALB2 Chr16:23649285 c.109-12T>A NM_024675.3 rs774949203

PARN Chr16:14724045 c.-165+2C>T NM_001134477.2

PC Chr11:66620883 c.1369-29A>G NM_000920.3

PDGFRA Chr4:55161473 c.*34G>A NM_006206.4 rs552950826

PDHA1 ChrX:19371182 c.533-17_533-14delTGTT NM_001173454.1

PDHA1 ChrX:19372579 c.625-30G>A NM_001173454.1

PDHA1 ChrX:19373648 c.873+26G>A NM_001173454.1

PDHA1 ChrX:19377849 c.*79_*90dupAGTCAATGAAAT NM_001173454.1 rs606231192

PDHA1 ChrX:19377861 c.*79_*90dupAGTCAATGAAAT NM_001173454.1

PDHX Chr11:34988372 c.816+11C>G NM_003477.2

PKLR Chr1:155263185 c.1269+44C>T NM_000298.5

PKLR Chr1:155265208 c.507+20C>A NM_000298.5

PKLR Chr1:155271258 c.-72A>G NM_000298.5

PKLR Chr1:155271259 c.-73G>C NM_000298.5

PKLR Chr1:155271269 c.-83G>C NM_000298.5

PKLR Chr1:155271269 NM_000298.5 rs1460844860

PMS2 Chr7:6027263 c.1145-31_1145-13delCTGACCCTCTTCTCCGTCC NM_000535.5 rs751973268

PMS2 Chr7:6048599 c.23+21_23+28delTCCGGTGT NM_000535.5

POLE Chr12:133249181 c.1686+32C>G NM_006231.2 rs762985435

POLH Chr6:43544178 c.-5+1G>C NM_006502.2

PRKAR1A Chr17:66508599 c.-97G>A NM_002734.4

PRKAR1A Chr17:66508689 c.-7G>A NM_002734.4

PRKAR1A Chr17:66508690 c.-7+1G>A NM_002734.4

PRKAR1A Chr17:66521878 c.550-17T>A NM_002734.4

PRKAR1A Chr17:66523964 c.709-7_709-2delTTTTTA NM_002734.4 rs281864801

PROC Chr2:128175983 c.-107A>G NM_000312.3

PROC Chr2:128175984 c.-106A>G NM_000312.3

PROC Chr2:128175988 c.-102T>A NM_000312.3

PROC Chr2:128175991 NM_000312.3

PROC Chr2:128175994 c.-96T>G NM_000312.3

PROC Chr2:128176001 c.-89T>C NM_000312.3

PROC Chr2:128176005 c.-85C>T NM_000312.3

PROC Chr2:128176047 c.-43A>C NM_000312.3

https://blueprintgenetics.com/ PROC Chr2:128176058 c.-32G>A NM_000312.3 rs912629007

PROC Chr2:128179040 c.237+15G>A NM_000312.3 rs528055589

PROC Chr2:128180582 c.263-28T>G NM_000312.3

PROC Chr2:128180823 c.401-18_401-3delGCCCTCCCCTGCCCGC NM_000312.3

PROC Chr2:128183562 c.536-99C>G NM_000312.3

PROC Chr2:128186595 c.*73C>T NM_000312.3 rs199469473

PROS1 Chr3:93593261 c.1871-20_1871-13delCTAATATT NM_000313.3

PROS1 Chr3:93593263 c.1871-14T>G NM_000313.3 rs754929347

PROS1 Chr3:93598175 c.1493-17T>C NM_000313.3 rs199469501

PROS1 Chr3:93605147 c.1323+33A>G NM_000313.3

PROS1 Chr3:93611983 c.966-17C>G NM_000313.3 rs199469490

PROS1 Chr3:93692761 c.-168C>T NM_000313.3 rs199469484

PROS1 Chr3:93692783 c.-190C>G NM_000313.3 rs149028936

PTCH1 Chr9:98226337 c.2561-2057A>G NM_000264.3

PTEN Chr10:89622883–89623482

PTEN Chr10:89622988 c.-1239A>G NM_000314.6

PTEN Chr10:89623049 c.-1178C>T NM_000314.6

PTEN Chr10:89623056 c.-1171C>T NM_000314.6 rs587779981

PTEN Chr10:89623116 c.-1111A>G NM_000314.6

PTEN Chr10:89623226 c.-1001T>C NM_000314.4

PTEN Chr10:89623296 c.-931G>A NM_000314.4 rs587781959

PTEN Chr10:89623306 c.-921G>T NM_000314.4

PTEN Chr10:89623331 c.-896T>C NM_000314.4

PTEN Chr10:89623365 c.-862G>T NM_000314.4 rs587776675

PTEN Chr10:89623373 c.-854C>G NM_000314.4

PTEN Chr10:89623392 c.-835C>T NM_000314.4 rs587779994

PTEN Chr10:89623428 c.-799G>C NM_000314.4 rs587779992

PTEN Chr10:89623462 c.-765G>A NM_000314.4

PTEN Chr10:89690791 c.210-8dupT NM_000314.4

PTEN Chr10:89692749 c.254-21G>C NM_000314.4

PTEN Chr10:89725294 c.*65T>A NM_000314.4

PTEN Chr10:89725304 c.*75_*92delTAATGGCAATAGGACATTinsCTATGGCAATAGGACATTG NM_000314.4

PTPN11 Chr12:112915602 c.934-59T>A NM_002834.3

RB1 Chr13:48877814 NM_000321.2 rs576931877

RB1 Chr13:48877836 NM_000321.2

RB1 Chr13:48877837 c.-212G>A NM_000321.2

RB1 Chr13:48877851 c.-198G>A NM_000321.2 rs387906521

RB1 Chr13:48877851 c.-198G>T NM_000321.2

RB1 Chr13:48877852 c.-197G>A NM_000321.2

RB1 Chr13:48877853 NM_000321.2

RB1 Chr13:48877856 c.-193T>A/G NM_000321.2

RB1 Chr13:48877856 NM_000321.2

RB1 Chr13:48877856 NM_000321.2

https://blueprintgenetics.com/ RB1 Chr13:48877857 c.-192G>A NM_000321.2

RB1 Chr13:48877860 c.-189G>T NM_000321.2 rs387906520

RB1 Chr13:48877899 c.-150G>C NM_000321.2

RB1 Chr13:48877900 c.-149G>T NM_000321.2

RB1 Chr13:48921946 c.501-15T>G NM_000321.2

RB1 Chr13:48930735 c.608-3418A>G NM_000321.2

RB1 Chr13:48937921 c.861+828T>G NM_000321.2

RB1 Chr13:48947691 c.1215+63T>G NM_000321.2

RB1 Chr13:48954175 c.1390-14A>G NM_000321.2 rs9535023

RB1 Chr13:48954239 c.1421+20_1421+33delTAAAAAATTTTTTT NM_000321.2

RB1 Chr13:49027115 c.1696-14C>T NM_000321.2 rs776912915

RB1 Chr13:49027117 c.1696-12T>G NM_000321.2

RB1 Chr13:49030329 c.1815-11A>G NM_000321.2

RB1 Chr13:49039121 c.2212-13T>A NM_000321.2

RB1 Chr13:49039327 c.2326-14T>C NM_000321.2

RB1 Chr13:49046098 c.2490-1398A>G NM_000321.2

RB1 Chr13:49047468 c.2490-28T>C NM_000321.2

RB1 Chr13:49047470 c.2490-26A>C/G/T NM_000321.2

RB1 Chr13:49047470 c.2490-26A>C NM_000321.2

RB1 Chr13:49047470 c.2490-26A>T NM_000321.2

RB1 Chr13:49047470 c.2490-26A>G NM_000321.2

RBM8A Chr1:145507646 c.-21G>A NM_005105.4

RBM8A Chr1:145507765 c.67+32G>C NM_005105.4 rs201779890

REN Chr1:204129817 c.374-12_374-11delTCinsAG NM_000537.3

REST Chr4:57793760 c.983-2247C>G NM_005612.4

RET Chr10:43572670 c.-37G>C NM_020975.4 rs751005619

RET Chr10:43572680 c.-27C>G NM_020975.4

RET Chr10:43582162 c.73+9385_73+9395delAGCAACTGCCA NM_020975.4 rs368137511

RET Chr10:43606948 c.1522+35C>T NM_020975.4 rs377130948

RET Chr10:43612192 c.2284+13C>T NM_020975.4

RET Chr10:43612198 c.2284+19C>T NM_020975.4

RET Chr10:43613947 c.2392+19T>C NM_020975.4 rs778745375

RPL31 Chr2:101618778 c.-1+1G>A NM_001098577.2

RPL5 Chr1:93300322 c.190-12_191dupCTCTTACTATAGAT NM_000969.3

RPS19 Chr19:42364214 c.-144_-141delTTTC NM_001022.3

RPS26 Chr12:56436176 c.4-25_4-14delTAACAGTTTTCC NM_001029.3

RPS7 Chr2:3622941 c.-19+1G>T NM_001011.3

RPS7 Chr2:3622942 c.-19+2T>C NM_001011.3

SEC23B Chr20:18488060 c.-571A>G NM_006363.4 rs559854357

SEC23B Chr20:18488615 c.-16A>G NM_006363.4

SEC23B Chr20:18491731 c.221+31A>G NM_006363.4

SEC23B Chr20:18491863 c.221+163A>G NM_006363.4 rs573898514

SEC23B Chr20:18492791 c.222-78C>T NM_006363.4 rs150393520

https://blueprintgenetics.com/ SEC23B Chr20:18526845 c.1743+168A>G NM_006363.4 rs111951711

SERPINC1 Chr1:173876666 c.1154-14G>A NM_000488.3

SERPINC1 Chr1:173884075 c.42-18C>G NM_000488.3

SERPINC1 Chr1:173886568 c.-171C>G NM_000488.3

SH2D1A ChrX:123499593 c.138-17_138-11delAGTTTAT NM_002351.4

SLC45A2 Chr5:33985176 NM_016180.3 rs984225803

SLC45A2 Chr5:33985764 NM_016180.3 rs199972025

SLC4A1 Chr17:42340296 c.-62G>A NM_000342.3 rs387906565

SMARCB1 Chr22:24130008 c.93+559A>G NM_003073.3

SMARCB1 Chr22:24176316 c.1119-12C>G NM_003073.3

SMARCB1 Chr22:24176437 c.*70C>T NM_003073.3

SMARCB1 Chr22:24176449 c.*82C>T NM_003073.3

SPTA1 Chr1:158613314 c.4339-99C>T NM_003126.2 rs200830867

SPTA1 Chr1:158626459 c.2806-13T>G NM_003126.2

STK11 Chr19:1220520 c.597+16_597+33delGGGGGGCCCTGGGGCGCCinsTG NM_000455.4

STK11 Chr19:1220530 c.598-32_597+31delGCCCCCTCCCGGGC NM_000455.4

STX11 Chr6:144508713 c.*85_*86insT NM_003764.3

STXBP2 Chr19:7705761 c.326-23_326-16delGCCCCACT NM_006949.3

TCN2 Chr22:31011112 c.581-176A>T NM_000355.3

TCN2 Chr22:31011112 c.581-176A>G NM_000355.3 rs372866837

TERC Chr3:169482870 n.-22C>T NR_001566.1

TERC Chr3:169482906 NR_001566.1

TERC Chr3:169482948 n.-100C>G NR_001566.1 rs199422256

TERC Chr3:169483086 NR_001566.1 rs199422255

TERT Chr5:1271334 c.2383-15C>T NM_198253.2 rs574645600

TERT Chr5:1295161 c.-57A>C NM_198253.2

THBD Chr20:23030319 NM_000361.2

THBD Chr20:23030443 c.-302C>A NM_000361.2

TMEM127 Chr2:96931137 c.-18C>T NM_017849.3 rs121908813

TP53 Chr17:7571520 NM_000546.5

TP53 Chr17:7577647 c.673-39G>A NM_000546.5

TP53 Chr17:7579601 c.97-11C>G NM_000546.5

TP53 Chr17:7590694 c.-29+1G>T NM_000546.5

TRNT1 Chr3:3188088 c.609-26T>C NM_182916.2

TSC1 Chr9:135800306 c.363+668G>A NM_000368.4

TSC2 Chr16:2098067 c.-30+1G>C NM_000548.3 rs587778004

TSC2 Chr16:2106052 c.600-145C>T NM_000548.3

TSC2 Chr16:2107460 c.848+281C>T NM_000548.3 rs45517132

TSC2 Chr16:2110656 c.976-15G>A NM_000548.3 rs45517150

TSC2 Chr16:2127477 c.2838-122G>A NM_000548.3

TSC2 Chr16:2138031 c.5069-18A>G NM_000548.3 rs45484794

TYR Chr11:88960973 c.1037-18T>G NM_000372.4

UNC13D Chr17:73826245 c.2831-13G>A NM_199242.2

https://blueprintgenetics.com/ UNC13D Chr17:73827442 c.2448-13G>A NM_199242.2 rs753762300

UNC13D Chr17:73839907 c.118-307G>A NM_199242.2

UNC13D Chr17:73839908 c.118-308C>T NM_199242.2

VHL Chr3:10183453 c.-75_-55delCGCACGCAGCTCCGCCCCGCG NM_000551.3 rs727503744

VHL Chr3:10183471 c.-54_-44dupTCCGACCCGCG NM_000551.3

VHL Chr3:10191719 c.*70C>A NM_000551.3

VHL Chr3:10191719 c.*70C>T NM_000551.3 rs552290225

VWF Chr12:6101204 c.6599-20A>T NM_000552.3 rs61750621

VWF Chr12:6125417 c.5312-19A>G NM_000552.3

VWF Chr12:6128923 c.3675-14G>A NM_000552.3

VWF Chr12:6233584 c.-1+3A>C NM_000552.3

VWF Chr12:6233714 c.-128G>A NM_000552.3 rs1300771136

VWF Chr12:6234258 c.-672C>T NM_000552.3 rs61750447

WAS ChrX:48547690 c.1339-19_1339-11delTGATCCCTGinsATCTGCAGACC NM_000377.2

WRN Chr8:30966107 c.2089-3024A>G NM_000553.4 rs281865157

WRN Chr8:30999982 c.3234-160A>G NM_000553.4

XPA Chr9:100449555 c.390-12A>G NM_000380.3

XPC Chr3:14187285 c.*156G>A NM_004628.4 rs121965092

XPC Chr3:14209904 c.413-24A>G NM_004628.4 rs794729657

Test Strengths

Assesses for non-coding disease causing variants in one or more genes, including promoter variants in PTEN.

The strengths of this test include:

CAP accredited laboratory CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance Careful construction of clinically effective and scientifically justified gene panels Some of the panels include the whole mitochondrial genome (please see the Panel Content section) Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level Our publicly available analytic validation demonstrating complete details of test performance ~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels (please see ‘Non-coding disease causing variants covered by this panel’ in the Panel Content section) Our rigorous variant classification scheme Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data Our comprehensive clinical statements

Test Limitations

The following exons are not included in the panel as they are not sufficiently covered with high quality sequence reads: CSF2RA (NM_001161530:9), PDGFRA (NM_001347828:2), PMS1 (NM_001321049:4), SDHD (NM_001276506:4), VKORC1 (NM_001311311:3), VPS45 (NM_001279353:13). Genes with suboptimal coverage in our assay are marked with number sign (#) and genes with partial, or whole gene, segmental duplications in the human genome are marked with an asterisk (*) if they

https://blueprintgenetics.com/ overlap with the UCSC pseudogene regions. Gene is considered to have suboptimal coverage when >90% of the gene’s target nucleotides are not covered at >20x with mapping quality score (MQ>20) reads. The technology may have limited sensitivity to detect variants in genes marked with these symbols (please see the Panel content table above).

This test does not d etect the following:

Complex inversions Gene conversions Balanced translocations Some of the panels include the whole mitochondrial genome (please see the Panel Content section) Repeat expansion disorders unless specifically mentioned Non-coding variants deeper than ±20 base pairs from exon-intron boundary unless otherwise indicated (please see above Panel Content / non-coding variants covered by the panel).

This test may not reliably detect the following:

Low level mosaicism in nuclear genes (variant with a minor allele fraction of 14.6% is detected with 90% probability) Stretches of mononucleotide repeats Low level heteroplasmy in mtDNA (>90% are detected at 5% level) Indels larger than 50bp Single exon deletions or duplications Variants within pseudogene regions/duplicated segments Some disease causing variants present in mtDNA are not detectable from blood, thus post-mitotic tissue such as skeletal muscle may be required for establishing molecular diagnosis.

The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.

For additional information, please refer to the Test performance section and see our Analytic Validation.

Bioinformatics

The target region for each gene includes coding exons and ±20 base pairs from the exon-intron boundary. In addition, the panel includes non-coding variants if listed above (Non-coding variants covered by the panel). Some regions of the gene(s) may be removed from the panel if specifically mentioned in the ‘Test limitations” section above. The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. We have incorporated a number of reference population databases and mutation databases such as, but not limited, to 1000 Genomes Project, gnomAD, ClinVar and HGMD into our clinical interpretation software to make the process effective and efficient. For missense variants, in silico variant prediction tools such as SIFT, PolyPhen, MutationTaster are used to assist with variant classification. Through our online ordering and statement reporting system, Nucleus, the customer has an access to details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with inadequate coverage if present. This reflects our mission to build fully transparent diagnostics where customers have easy access to crucial details of the analysis process.

Clinical Interpretation

We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.

Variant classification is the corner stone of clinical interpretation and resulting patient management decisions. Our classifications follow the ACMG guideline 2015.

The final step in the analysis of sequence variants is confirmation of variants classified as pathogenic or likely pathogenic

https://blueprintgenetics.com/ using bi-directional Sanger sequencing. Variant(s) fulfilling the following criteria are not Sanger confirmed: the variant quality score is above the internal threshold for a true positive call, and visual check-up of the variant at IGV is in-line with the variant call. Reported variants of uncertain significance are confirmed with bi-directional Sanger sequencing only if the quality score is below our internally defined quality score for true positive call. Reported copy number variations with a size <10 exons are confirmed by orthogonal methods such as qPCR if the specific CNV has been seen less than three times at Blueprint Genetics.

Our clinical statement includes tables for sequencing and copy number variants that include basic variant information (genomic coordinates, HGVS nomenclature, zygosity, allele frequencies, in silico predictions, OMIM phenotypes and classification of the variant). In addition, the statement includes detailed descriptions of the variant, gene and phenotype(s) including the role of the specific gene in human disease, the mutation profile, information about the gene’s variation in population cohorts and detailed information about related phenotypes. We also provide links to the references used, congress abstracts and mutation variant databases used to help our customers further evaluate the reported findings if desired. The conclusion summarizes all of the existing information and provides our rationale for the classification of the variant.

Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis. In these cases, family member testing can be used for risk stratification within the family. In the case of variants of uncertain significance (VUS), we do not recommend family member risk stratification based on the VUS result. Furthermore, in the case of VUS, we do not recommend the use of genetic information in patient management or genetic counseling.

Our interpretation team analyzes millions of variants from thousands of individuals with rare diseases. Thus, our database, and our understanding of variants and related phenotypes, is growing by leaps and bounds. Our laboratory is therefore well positioned to re-classify previously reported variants as new information becomes available. If a variant previously reported by Blueprint Genetics is re-classified, our laboratory will issue a follow-up statement to the original ordering health care provider at no additional cost.

ICD Codes

Refer to the most current version of ICD-10-CM manual for a complete list of ICD-10 codes.

Sample Requirements

Blood (min. 1ml) in an EDTA tube Extracted DNA, min. 2 μg in TE buffer or equivalent Saliva (Please see Sample Requirements for accepted saliva kits)

Label the sample tube with your patient's name, date of birth and the date of sample collection.

We do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue. In addition, if the patient is affected with a hematological malignancy, DNA extracted from a non-hematological source (e.g. skin fibroblasts) is strongly recommended.

Please note that, in rare cases, mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option.

Read more about our sample requirements here.

For Patients

Sickle Cell Anemia Resources

American Sickle Cell Anemia Association

https://blueprintgenetics.com/ Bernard-Soulier Syndrome Resources

Bernard Soulier Syndrome Organization

Bloom's Syndrome Resources

Bloom’s Syndrome Association

Diamond Blackfan Anemia Resources

Diamond Blackfan Anemia Foundation

Fanconi Anemia Resources

Fanconi Anemia Research Fund

Glanzmann's Syndrome Resources

Glanzmann’s Research Foundation

Hemophilia Resources

Hemophilia & Rare Bleeding Disorders National Hemophilia Foundation World Federation of Hemophilia

Hermansky-Pudlak Syndrome Resources

Hermansky-Pudlak Syndrome Network

Hemophagocystic Lymphohistocytosis Resources

Histiocytosis Association

Immune Deficiency Resources

Immune Deficiency Foundation

Platelet Disorder Resources

Platelet Disorder Support Association

Shwachman-Diamond Syndrome Resources

Shwachman-Diamond Syndrome Foundation

Thalassemia Resources

Thalassemia Support Foundation

https://blueprintgenetics.com/ Wiskott-Aldrich Syndrome Resources

Wiskott-Aldrich Foundation

Chediak-Higashi Syndrome Resources

NORD - Chediak-Higashi Syndrome

Hereditary Spherocytosis Resources

NORD -

Breast and Ovarian Cancer Resources

Fighting Hereditary Breast and Ovarian Cancer

Gastrointestinal Cancer Resources

Gastro-Intestinal Cancer Institute Lynch Syndrome International Cancer.Net - Juvenile Polyposis Syndrome NORD - Familial Adenomatous Polyposis

General Resources

Canadian Cancer Society American Cancer Society

Lung Cancer Resources

Lung Cancer Alliance

Bloom Syndrome Resources

The Bloom Syndrome Foundation

Li-Fraumeni Syndrome Resources

Li-Fraumeni Syndrome Association

Multiple Endocrine Neoplasia Resources

American Multiple Endocrine Neoplasia Support NORD - Multiple Endocrine Neoplasia Type 1 NORD - Multiple Endocrine Neoplasia Type 2

Neurofibromatosis Resources

Neurofibromatosis Network

https://blueprintgenetics.com/ Rothmund-Thomson Syndrome Resources

Rothmund-Thomson Syndrome Foundation

Tuberous Sclerosis Complex Resources

Tuberous Sclerosis Complex International von Hippel Lindau Syndrome Resources

VHL Alliance

Gorlin Syndrome Resources

NORD - Gorlin Syndrome

Other

Hemophilia Federation of America National Organization for Albinism and NORD - Bernard-Soulier Syndrome NORD - Beta-Thalassemia NORD - Bloom Syndrome NORD - Diamond-Blackfan anemia NORD - Fanconi Anemia NORD - Glanzmann Thrombasthenia NORD - Hemophilia A NORD - Hemophilia B NORD - Hermansky-Pudlak Syndrome NORD - Lymphoproliferative Syndrome NORD - Shwachman-Diamond Syndrome NORD - Sickle Cell Disease NORD - Von Willebrand Disease NORD - Wiskott Aldrich Syndrome GeneReviews - Alpha-Thalassemia GeneReviews - Beta-Thalassemia GeneReviews - Bloom Syndrome GeneReviews - Chediak-Higashi Syndrome GeneReviews - Congenital Dyserythropoietic Anemia GeneReviews - Diamond-Blackfan anemia GeneReviews - EPB42-Related Hereditary Spherocytosis GeneReviews - Familial Hemophagocytic Lymphohistiocytosis GeneReviews - Fanconi Anemia GeneReviews - Hemophilia A GeneReviews - Hemophilia B GeneReviews - Hermansky-Pudlak Syndrome GeneReviews - Lymphoproliferative Syndrome GeneReviews - Nijmegen Breakage Syndrome GeneReviews - Shwachman-Diamond Syndrome GeneReviews - Sickle Cell Disease GeneReviews - Von Willebrand Disease GeneReviews - Wiskott Aldrich Syndrome GeneReviews - X-Linked Sideroblastic Anemia GeneReviews - Congenital Dyserythropoietic Anemia Type I GeneReviews - Diamond-Blackfan Anemia

https://blueprintgenetics.com/ GeneReviews - Hemophagocytic Lymphohistiocytosis, Familial GeneReviews - Lymphoproliferative Disease, X-Linked GeneReviews - WAS-Related Disorders GeneReviews - X-Linked Sideroblastic Anemia and Ataxia Bousfiha A et al. The 2017 IUIS Phenotypic Classification for Primary . J Clin Immunol. 2018 38:129–143 Noris P et al. Hereditary thrombocytopenias: a growing list of disorders. Hematology Am Soc Hematol Educ Program. 2017 Dec 8; (1):385-399 Beckwith-Wiedemann Children’s Foundation International Bright Pink HBOC Society Lung Cancer Loundation of America Bonnie J. Addario Lung Cancer Foundation The Eye Cancer Foundation Child Neurology Foundation - NF Type 1 The Neuro Foundation - NF Type 2 NORD - Beckwith-Wiedemann Syndrome NORD - Retinoblastoma NORD - Pheochromocytoma NORD - Neurofibromatosis Type 1 (NF1) NORD - Peutz Jeghers Syndrome NORD - Rothmund-Thomson Syndrome NORD - Simpson-Golabi-Behmel Syndrome NORD - Tuberous Sclerosis NORD - Von Hippel-Lindau Syndrome NORD - Werner Syndrome GeneReviews - Beckwith-Wiedemann Syndrome GeneReviews - BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer GeneReviews - Bloom's Syndrome GeneReviews - Gorlin Syndrome GeneReviews - Retinoblastoma GeneReviews - Lynch Syndrome GeneReviews - Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews - Li-Fraumeni Syndrome GeneReviews - Neurofibromatosis 1 GeneReviews - Neurofibromatosis 2 GeneReviews - Peutz-Jeghers Syndrome GeneReviews - Multiple Endocrine Neoplasia Type 1 GeneReviews - Multiple Endocrine Neoplasia Type 2 GeneReviews - Rothmund-Thomson Syndrome GeneReviews - Simpson-Golabi-Behmel Syndrome Type 1 GeneReviews - Tuberous Sclerosis GeneReviews - Von Hippel-Lindau Syndrome GeneReviews - Werner Syndrome GeneReviews - BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer GeneReviews - Hereditary Diffuse Gastric Cancer

https://blueprintgenetics.com/