46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH 46,XY sex reversal type 8, modifier of AKR1C4

Transcription

1 gene sequencing duplication (sequencing epansion + del/dup) 2-aminoadipic 2-ooadipic aciduria DHTKD ,00 2-methylbutyrylglycinuria ACADSB ,00 3-beta-hydroysteroid dehydrogenase deficiency type 2 HSD3B ,00 437,00 755,00 3-hydroy-3-methylglutaryl-CoA lyase deficiency HMGCL ,00 421, ,00 3-hydroy-3-methylglutaryl-CoA synthase 2 deficiency HMGCS ,00 328,00 997,00 3-hydroyisobutryl-CoA hydrolase deficiency HIBCH ,00 3MC syndrome type 1 MASP ,00 3MC syndrome type 2 COLEC ,00 3-methylglutaconic aciduria type 1 AUH ,00 429, ,00 3-methylglutaconic aciduria type 3 OPA ,00 343,00 661,00 3-methylglutaconic aciduria type 5 DNAJC ,00 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC ,00 424, ,00 5-ooprolinase deficiency OPLAH ,00 6q24-related transient neonatal diabetes mellitus type 1 UPD chr ,00 17-beta hydroysteroid dehydrogenase X deficiency HSD17B ,00 17-hydroylation activity deficiency CYP17A ,00 328,00 915,00 46,XX se reversal type 1 SRY ,00 328,00 552,00 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy DHH ,00 374,00 692,00 46,XY se reversal type 8, modifier of AKR1C ,00 Abetalipoproteinemia MTTP ,00 Accelerated tumor formation, susceptibility to MDM ,00 328, ,00 Acetycholinesterase deficiency ACHE ,00 Acetyl-CoA carboylase deficiency ACACA ,00 Achalasia addisonianism alacrimia syndrome AAAS ,00 424, ,00 Achalasia addisonianism alacrimia syndrome AAAS ,00 424, ,00 Achondrogenesis type 1A TRIP ,00 442, ,00 Achondrogenesis type 1B SLC26A ,00 374,00 879,00 Achondrogenesis type 2 COL2A ,00 328, ,00 Achondrogenesis type 2 COL2A ,00 328, ,00 Achondroplasia FGFR ,00 421, ,00 Achromatopsia type 2 CNGA ,00 Achromatopsia type 3 CNGB ,00 421, ,00 Achromatopsia type 4 GNAT ,00 Achromatopsia type 6 PDE6H ,00 Acne inversa familial type 3 PSEN ,00 328, ,00 Acrocallosal syndrome KIF ,00 430, ,00 Acrodermatitis enteropathica SLC39A ,00 421, ,00 Acrodysostosis 2 PDE4D ,00 445, ,00 Acrodysostosis type 1, with or without hormone resistance PRKAR1A ,00 429, ,00 Acrofacial dysostosis 1, Nager type SF3B ,00 421,00 926,00 Page 1 of 99

2 gene sequencing duplication (sequencing epansion + del/dup) Acromegaly, predisposition to, due to germline GPR101 mutation GPR ,00 Acromelic frontonasal dysostosis ZSWIM ,00 437, ,00 Acromesomelic dysplasia, Maroteau type NPR ,00 463, ,00 Acromicric dysplasia FBN ,00 655, ,00 Acute myeloid leukemia, somatic, DNMT3A related DNMT3A ,00 Acyl-CoA medium-chain dehydrogenase deficiency ACADM ,00 426, ,00 Acyl-CoA multiple dehydrogenase deficiency ETFA ,00 421, ,00 Acyl-CoA multiple dehydrogenase deficiency ETFB ,00 390, ,00 Acyl-CoA peroisomal oidase deficiency ACOX ,00 Acyl-CoA short-chain dehydrogenase deficiency ACADS ,00 429, ,00 Acyl-CoA very long-chain dehydrogenase deficiency ACADVL ,00 328, ,00 Adams-Oliver syndrome type 1 ARHGAP ,00 421, ,00 Adams-Oliver syndrome type 2 DOCK ,00 824, ,00 Adams-Oliver syndrome type 3 RBPJ ,00 Adams-Oliver syndrome type 4 EOGT ,00 421, ,00 Adams-Oliver syndrome type 6 DLL ,00 Adenine phosphoribosyltransferase deficiency APRT ,00 Adenocarcinoma of lung, somatic BRAF ,00 Adenocarcinoma of lung, somatic ERBB ,00 Adenoma, periampullary, somatic APC ,00 Adenosine triphosphate, elevated, of erythrocytes PKLR ,00 328,00 974,00 Adenylosuccinase deficiency ADSL ,00 Adrenal adenoma, somatic MEN ,00 Adrenal hyperplasia due to 21-hydroylase deficiency CYP21A ,00 328,00 997,00 Adrenal hyperplasia due to cytochrome P450 oidoreductase deficiency POR ,00 328, ,00 Adrenal hyperplasia due to steroid 11-beta-hydroylase deficiency CYP11B ,00 421, ,00 Adrenal hypoplasia NR0B ,00 328,00 669,00 Adrenal insufficiency, congenital, with 46XY se reversal, partial or complete CYP11A ,00 Adrenocorticotropic hormone deficiency TBX ,00 Adrenoleukodystrophy, -linked ABCD ,00 328, ,00 Adrenoleukodystrophy, -linked PLXNB ,00 Adrenoleukodystrophy/Adrenomyeloneuropathy ABCD ,00 328, ,00 ADULT syndrome, split hand-foot malformation TP ,00 424, ,00 Afibrinogenemia, congenital FGA ,00 Afibrinogenemia, congenital FGB ,00 437, ,00 Afibrinogenemia, congenital FGG ,00 Agammaglobulinemia and isolated hormone deficiency BTK ,00 328, ,00 Agammaglobulinemia type 1, autosomal recessive IGHM ,00 Agammaglobulinemia type 1, X-linked BTK ,00 328, ,00 Agammaglobulinemia type 2, autosomal recessive IGLL ,00 Page 2 of 99

3 gene sequencing duplication (sequencing epansion + del/dup) Agammaglobulinemia type 3, autosomal recessive CD79A ,00 Agammaglobulinemia type 4, autosomal recessive BLNK ,00 Agammaglobulinemia type 5, autosomal recessive LRRC8A ,00 Agammaglobulinemia type 6, autosomal recessive CD79B ,00 Agammaglobulinemia type 7, autosomal recessive PIK3R ,00 Agenesis of the corpus callosum with peripheral neuropathy SLC12A ,00 527, ,00 Aicardi-Goutieres syndrome type 1 TREX ,00 328,00 552,00 Aicardi-Goutieres syndrome type 2 RNASEH2B ,00 328,00 974,00 Aicardi-Goutieres syndrome type 3 RNASEH2C ,00 328,00 552,00 Aicardi-Goutieres syndrome type 4 RNASEH2A ,00 328,00 833,00 Aicardi-Goutieres syndrome type 5 SAMHD ,00 328, ,00 Aicardi-Goutieres syndrome type 6 ADAR ,00 Aicardi-Goutieres syndrome type 7 IFIH ,00 Alacrima, achalasia and mental retardation syndrome GMPPA ,00 Alagille syndrome type 1 JAG ,00 328, ,00 Alagille syndrome type 2 NOTCH ,00 716, ,00 Aland Island eye disease CACNA1F ,00 Alazami syndrome LARP ,00 445, ,00 Albinism, ocular type I, Nettleship-Falls type GPR ,00 328,00 907,00 Albinism, oculocutaneous nonsyndromic SLC24A ,00 Albinism, oculocutaneous nonsyndromic SLC24A ,00 Albinism, oculocutaneous type 1A TYR ,00 328,00 833,00 Albinism, oculocutaneous type 1A TYR ,00 328,00 833,00 Albinism, oculocutaneous type 1B TYR ,00 328,00 833,00 Albinism, oculocutaneous type 1B TYR ,00 328,00 833,00 Albinism, oculocutaneous type 2 OCA ,00 328, ,00 Albinism, oculocutaneous type 2 OCA ,00 328, ,00 Albinism, oculocutaneous type 3 TYRP ,00 437,00 942,00 Albinism, oculocutaneous type 3 TYRP ,00 437,00 942,00 Albinism, oculocutaneous type 4 SLC45A ,00 437,00 942,00 Albinism, oculocutaneous type 4 SLC45A ,00 437,00 942,00 Albinism, oculocutaneous type 5 C10ORF ,00 Albinism, oculocutaneous type 5 C10ORF ,00 Aleander disease GFAP ,00 437, ,00 Alkaptonuria HGD ,00 437, ,00 Allan-Herndon-Dudley syndrome SLC16A ,00 421,00 926,00 Allan-Herndon-Dudley syndrome SLC16A ,00 421,00 926,00 Alopecia universalis HR ,00 430, ,00 Alpha-2-macroglobulin deficiency A2M ,00 Alpha-ketoglutarate dehydrogenase deficiency OGDH ,00 Page 3 of 99

4 gene sequencing duplication (sequencing epansion + del/dup) Alpha-methylacyl CoA racemase deficiency AMACR ,00 421,00 926,00 Alpha-thalassemia/mental retardation syndrome ATRX ,00 328, ,00 Alpha-thalassemia/mental retardation syndrome ATRX ,00 328, ,00 Alpha-thalassemia/mental retardation syndrome ATRX ,00 328, ,00 Alport syndrome, autosomal recessive COL4A ,00 328, ,00 Alport syndrome, autosomal recessive COL4A ,00 328, ,00 Alport syndrome, autosomal recessive COL4A ,00 328, ,00 Alport syndrome, autosomal recessive COL4A ,00 328, ,00 Alport syndrome, X-Linked COL4A ,00 655, ,00 Alport syndrome, X-Linked COL4A ,00 655, ,00 Al-Raqad syndrome DCPS ,00 Alstrom syndrome ALMS ,00 484, ,00 Alternating hemiplegia of childhood type 1 ATP1A ,00 328, ,00 Alternating hemiplegia of childhood type 2 ATP1A ,00 328, ,00 Alveolar capillary dysplasia with misalignment of pulmonary veins FOXF ,00 328,00 669,00 Alzheimer disease type 1 APP ,00 328, ,00 Alzheimer disease type 2 APOE ,00 437,00 942,00 Alzheimer disease type 3 PSEN ,00 328, ,00 Alzheimer disease type 4 PSEN ,00 328,00 907,00 Alzheimers disease, early onset, autosomal dominant SORL ,00 905, ,00 Alzheimers disease, RTN3 related RTN ,00 Amelogenesis imperfecta type 1A LAMB ,00 484, ,00 Amelogenesis imperfecta type 1B ENAM ,00 Amelogenesis imperfecta type 1C ENAM ,00 Amelogenesis imperfecta type 1E AMELX ,00 Amelogenesis imperfecta type 1F AMBN ,00 Amelogenesis imperfecta type 1G FAM20A ,00 Amelogenesis imperfecta type 1H ITGB ,00 Amelogenesis imperfecta type 2A1 KLK ,00 Amelogenesis imperfecta type 2A2 MMP ,00 Amelogenesis imperfecta type 2A3 WDR ,00 Amelogenesis imperfecta type 2A4 C4orf ,00 Amelogenesis imperfecta type 2A5 SLC24A ,00 Amelogenesis imperfecta type 3 FAM83H ,00 Amelogenesis imperfecta type 4 DLX ,00 374,00 598,00 Amelotin deficiency AMTN ,00 Aminoacylase deficiency ACY ,00 Amish infantile epilepsy syndrome ST3GAL ,00 AMP deaminase deficiency, erythrocytic AMPD ,00 Amyloidosis TTR ,00 437,00 778,00 Page 4 of 99

5 gene sequencing duplication (sequencing epansion + del/dup) Amyloidosis, familial visceral APOA ,00 437,00 778,00 Amyloidosis, finnish type GSN ,00 Amyloidosis, primary localized cutaneous, type 1 OSMR ,00 Amyloidosis, primary localized cutaneous, type 2 IL31RA ,00 Amyotrophic lateral sclerosis risk factor CHGB ,00 Amyotrophic lateral sclerosis type 1 SOD ,00 390,00 969,00 Amyotrophic lateral sclerosis type 2, juvenile ALS ,00 716, ,00 Amyotrophic lateral sclerosis type 4 SETX ,00 328, ,00 Amyotrophic lateral sclerosis type 6 FUS ,00 445, ,00 Amyotrophic lateral sclerosis type 8 VAPB ,00 Amyotrophic lateral sclerosis type 9 ANG ,00 Amyotrophic lateral sclerosis type 10 TARDBP ,00 421, ,00 Amyotrophic lateral sclerosis type 11 FIG ,00 484, ,00 Amyotrophic lateral sclerosis type 12 OPTN ,00 424, ,00 Amyotrophic lateral sclerosis type 14 VCP ,00 Amyotrophic lateral sclerosis type 16 SIGMAR ,00 Amyotrophic lateral sclerosis type 17 CHMP2B ,00 Amyotrophic lateral sclerosis type 18 PFN ,00 Amyotrophic lateral sclerosis type 21 MATR ,00 421, ,00 Amyotrophic lateral sclerosis with frontotemporal dementia C9orf ,00 Amyotrophic lateral sclerosis, CREST related SS18L ,00 Amyotrophic lateral sclerosis, susceptibility to NEFH ,00 437, ,00 Amyotrophic lateral sclerosis, VPS54 related VPS ,00 Amyotrophic lateral sclerosis, -linked juvenile and adult-onset ALS UBQLN ,00 Amyotrophy hereditary neuralgic SEPT ,00 328, ,00 Andersen disease GBE ,00 424, ,00 Androgen insensitivity AR ,00 328, ,00 200,00 Androgen insensitivity, partial, with or without breast cancer AR ,00 328, ,00 200,00 Androgen-binding protein deficiency SHBG ,00 Anemia dyserythropoietic type 1A CDAN ,00 590, ,00 Anemia dyserythropoietic type 2 SEC23B ,00 437, ,00 Anemia, neonatal hemolytic, fatal and near-fatal SPTB ,00 Anemia, sideroblastic, pyridoine-refractory, autosomal recessive GLRX ,00 Anemia, sideroblastic, pyridoine-refractory, autosomal recessive SLC25A ,00 Anemia, sideroblastic, with ataia ABCB ,00 Anemia, sideroblastic, X-linked ALAS ,00 Anemia, X-linked GATA ,00 421,00 926,00 Angelman syndrome chr. 15q11 328,00 Angelman syndrome UBE3A ,00 328, ,00 Angelman-like syndrome CDKL ,00 328, ,00 Page 5 of 99

6 gene sequencing duplication (sequencing epansion + del/dup) Angelman-like syndrome MECP ,00 328,00 646,00 Angioedema, hereditary SERPING ,00 328,00 997,00 Angiofibroma, somatic MEN ,00 Anhaptoglobinemia HP ,00 Aniridia PAX ,00 328, ,00 Ankyloblepharon-ectodermal defects-cleft lip/palate TP ,00 424, ,00 Anterior segment mesenchymal dysgenesis PITX ,00 Anterior segment mesenchymal dysgenesis PITX ,00 Antithrombin III deficiency SERPINC ,00 328,00 997,00 Antitrypsin-alpha-1 deficiency SERPINA ,00 437,00 860,00 Antley-Biler syndrome FGFR ,00 328, ,00 Aortic aneurysm, familial thoracic type 3 TGFBR ,00 328, ,00 Aortic aneurysm, familial thoracic type 4 MYH ,00 905, ,00 Aortic aneurysm, familial thoracic type 5 TGFBR ,00 328,00 997,00 Aortic aneurysm, familial thoracic type 6 ACTA ,00 421, ,00 Aortic aneurysm, familial thoracic type 7 MYLK ,00 Aortic aneurysm, familial thoracic type 8 PRKG ,00 Aortic aneurysm, familial thoracic, MAT2A related MAT2A ,00 Aortic valve disease type 1 NOTCH ,00 716, ,00 Aortic valve disease type 2 SMAD ,00 437, ,00 Apert syndrome FGFR ,00 328, ,00 Aplastic anemia PRF ,00 328,00 669,00 Aplastic anemia TERC ,00 328,00 474,00 Aplastic anemia, SBDS related SBDS ,00 390,00 731,00 Apolipoprotein C-II deficiency APOC ,00 437,00 673,00 Apparent mineralocorticoid ecess HSD11B ,00 390,00 813,00 Arginase deficiency ARG ,00 Arginine-glycine amidinotransferase deficiency GATM ,00 421, ,00 Argininosuccinic aciduria ASL ,00 424, ,00 Aromatase deficiency CYP19A ,00 429, ,00 Aromatic L-amino acid decarboylase deficiency DDC ,00 Arrhythmogenic right ventricular cardiomyopathy type 1 TGFB ,00 328,00 974,00 Arrhythmogenic right ventricular cardiomyopathy type 5 TMEM ,00 Arrhythmogenic right ventricular cardiomyopathy type 8 DSP ,00 328, ,00 Arrhythmogenic right ventricular cardiomyopathy type 9 PKP ,00 328, ,00 Arrhythmogenic right ventricular cardiomyopathy type 10 DSG ,00 328, ,00 Arrhythmogenic right ventricular cardiomyopathy type 11 DSC ,00 328, ,00 Arrhythmogenic right ventricular cardiomyopathy type 12 JUP ,00 Arrhythmogenic right ventricular dysplasia type 2 RYR ,00 Arterial calcification type 1, generalized, infantile ENPP ,00 527, ,00 Page 6 of 99

7 gene sequencing duplication (sequencing epansion + del/dup) Arterial calcification type 2, generalized, infantile ABCC ,00 328, ,00 Arterial Tortuosity Syndrome SLC2A ,00 390,00 969,00 Arthrogryposis, distal, type 1A TPM ,00 421, ,00 Arthrogryposis, distal, type 1B MYBPC ,00 632, ,00 Arthrogryposis, distal, type 2A MYH ,00 704, ,00 Arthrogryposis, distal, type 2B MYH ,00 704, ,00 Arthrogryposis, distal, type 2B TNNI ,00 Arthrogryposis, distal, type 2B TNNT ,00 Arthrogryposis, distal, type 3 PIEZO ,00 811, ,00 Arthrogryposis, distal, type 5D ECEL ,00 421, ,00 Arthrogryposis, distal, type 5 PIEZO ,00 811, ,00 Arthrogryposis, distal, type 7 MYH ,00 842, ,00 Arthrogryposis, mental retardation, and seizures SLC35A ,00 Arthrogryposis, renal dysfunction, and cholestasis type 1 VPS33B ,00 Arthrogryposis, renal dysfunction, and cholestasis type 2 VIPAS ,00 437, ,00 Arthrogryposis, renal dysfunction, and cholestasis type 2 VIPAS ,00 437, ,00 Arthropathy, progressive pseudorheumatoid, of childhood WISP ,00 Arts syndrome PRPS ,00 437,00 942,00 Asparaginesynthetase deficiency ASNS ,00 Aspartylglucosaminuria AGA ,00 Asperger syndrome susceptibility X-linked type 2 NLGN ,00 437, ,00 Ataia and muscle hypotonia COX ,00 Ataia telangiectasia like disorder MRE11A ,00 437, ,00 Ataia, posterior column, with retinitis pigmentosa FLVCR ,00 429, ,00 Ataia, progressive seizures, mental deterioration, and hearing loss, MT-TV related MT-TV ,00 Ataia-oculomotor apraia type 1 APTX ,00 328,00 997,00 Ataia-oculomotor apraia type 2 SETX ,00 328, ,00 Ataia-oculomotor apraia type 3 PIK3R ,00 430, ,00 Ataia-oculomotor apraia type 4 PNKP ,00 424, ,00 Ataia-telangiectasia ATM ,00 655, ,00 Atelosteogenesis type 1 FLNB ,00 328, ,00 Atelosteogenesis type 3 FLNB ,00 328, ,00 Athabaskan brainstem dysgenesis syndrome HOXA ,00 343,00 661,00 Atherosclerosis, SOAT1 related SOAT ,00 Atrial fibrillation type 3 KCNQ ,00 328, ,00 Atrial fibrillation type 4 KCNE ,00 328,00 564,00 Atrial fibrillation type 6 NPPA ,00 Atrial fibrillation type 7 KCNA ,00 Atrial fibrillation type 10 SCN5A ,00 328, ,00 Atrial fibrillation type 11 GJA ,00 Page 7 of 99

8 gene sequencing duplication (sequencing epansion + del/dup) Atrial fibrillation type 12 ABCC ,00 905, ,00 Atrial septal defect type 2 GATA ,00 328,00 907,00 Atrial septal defect type 3 MYH ,00 Atrial septal defect type 4 TBX ,00 437, ,00 Atrial septal defect type 5 ACTC ,00 Atrial septal defect type 8 CITED ,00 Atrial septal defect type 9 GATA ,00 437, ,00 Atrial septal defect with atrioventricular conduction defects NKX ,00 328,00 833,00 Atrichia with papular lesions HR ,00 430, ,00 Atrioventricular septal defect type 4 GATA ,00 328,00 907,00 Atrioventricular septal defect type 5 GATA ,00 437, ,00 Atrioventricular septal defect, partial with heterotay syndrome CRELD ,00 Attention deficit-hyperactivity disorder DRD ,00 Attention deficit-hyperactivity disorder DRD ,00 Atypical Mycobacterial infection IFNGR ,00 Atypical Mycobacterial infection IKBKG ,00 Atypical Mycobacterial infection IL12RB ,00 Atypical Mycobacterial infection STAT ,00 Atypical Mycobacterial infection, IL12RB2 related IL12RB ,00 Auditory neuropathy, autosomal dominant DIAPH ,00 Auriculocondylar syndrome type 1 GNAI ,00 421, ,00 Auriculocondylar syndrome type 2 PLCB ,00 758, ,00 Auriculocondylar syndrome type 2 PLCB ,00 758, ,00 Autism spectrum disorder AHNAK ,00 Autism spectrum disorder ANKS3 995,00 Autism spectrum disorder BPIFA3 655,00 Autism spectrum disorder EN ,00 Autism spectrum disorder RABGGTA ,00 Autism spectrum disorder, MYO16 related MYO ,00 905, ,00 Autism spectrum, MXRA5 related MXRA ,00 Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related GRM ,00 429, ,00 Autism susceptibility, X-linked type 1 NLGN ,00 437, ,00 Autism susceptibility, X-linked type 2 NLGN4X ,00 328,00 974,00 Autism susceptibility, X-linked type 3 MECP ,00 328,00 646,00 Autism susceptibility, X-linked type 4 PTCHD ,00 Autism susceptibility, X-linked type 5 RPL ,00 Autism susceptibility, X-linked type 17 SHANK ,00 328, ,00 Autism, ATP1B4 related ATP1B4 737,00 Autism, AVPR1A related AVPR1A ,00 Autism, C7orf43 related C7orf43 729,00 Page 8 of 99

9 gene sequencing duplication (sequencing epansion + del/dup) Autism, CELF6 related CELF ,00 Autism, EFCAB13 related EFCAB ,00 Autism, FAAH2 related FAAH ,00 Autism, FCRL6 related FCRL ,00 Autism, GYG2 related GYG ,00 Autism, IQCE related IQCE 1.338,00 Autism, MBD1 related MBD ,00 Autism, NTNG1 related NTNG ,00 328,00 907,00 Autism, OR13H1 related OR13H1 374,00 Autism, OXTR related OXTR ,00 Autism, PKHD1L1 related PKHD1L ,00 905, ,00 Autism, RNF128 related RNF ,00 Autism, RRM1 related RRM ,00 Autism, SETD2 related SETD ,00 Autism, SLC22A9 related SLC22A ,00 Autism, UNC13B related UNC13B ,00 Autism, ZNF778 related ZNF ,00 Autism/Mental retardation/angelman syndrome, susceptibility to, ATP10A related ATP10A ,00 Autoimmune lymphoproliferative syndrome type 1A FAS ,00 421, ,00 Autoimmune lymphoproliferative syndrome type 1B FASLG ,00 437,00 860,00 Autoimmune lymphoproliferative syndrome type 2A CASP ,00 Autoimmune lymphoproliferative syndrome type 2B CASP ,00 Autoimmune lymphoproliferative syndrome type 3 PRKCD ,00 Autoimmune polyendocrinopathy syndrome type 1 AIRE ,00 437, ,00 Autoinflammation, lipodystroph and dermatosis syndrome PSMB ,00 421,00 926,00 Avascular necrosis of the femoral head, primary COL2A ,00 328, ,00 Aenfeld-Rieger syndrome type 1 PITX ,00 328,00 751,00 Aenfeld-Rieger syndrome type 3 FOXC ,00 328,00 669,00 Azoospermia induced by Y chromosome microdeletions AZF region 328,00 Bainbridge-Ropers syndrome ASXL ,00 Baller-Gerold syndrome RECQL ,00 442, ,00 Band-like calcification with simplified gyration and polymicrogyria OCLN ,00 421, ,00 Baraitser-Winter syndrome type 1 ACTB ,00 421,00 844,00 Baraitser-Winter syndrome type 2 ACTG ,00 421,00 739,00 Bardet-Biedl syndrome type 1 BBS ,00 Bardet-Biedl syndrome type 2 BBS ,00 424, ,00 Bardet-Biedl syndrome type 3 ARL ,00 Bardet-Biedl syndrome type 4 BBS ,00 Bardet-Biedl syndrome type 5 BBS ,00 421, ,00 Bardet-Biedl syndrome type 6 MKKS ,00 421,00 926,00 Page 9 of 99

10 gene sequencing duplication (sequencing epansion + del/dup) Bardet-Biedl syndrome type 7 BBS ,00 Bardet-Biedl syndrome type 8 TTC ,00 Bardet-Biedl syndrome type 9 BBS ,00 Bardet-Biedl syndrome type 10 BBS ,00 Bardet-Biedl syndrome type 11 TRIM ,00 Bardet-Biedl syndrome type 12 BBS ,00 Bardet-Biedl syndrome type 13 MKS ,00 424, ,00 Bardet-Biedl syndrome type 14 CEP ,00 842, ,00 Bardet-Biedl syndrome type 14 CEP ,00 842, ,00 Bardet-Biedl syndrome type 15 WDPCP ,00 Bardet-Biedl syndrome, LZTFL1 related LZTFL ,00 Bardet-Biedl syndrome, modifier of, CCDC28B related CCDC28B ,00 Bare lymphocyte syndrome, type 2, complementation group A CIITA ,00 Bare lymphocyte syndrome, type 2 RFXANK ,00 429, ,00 Barth syndrome TAZ ,00 429,00 934,00 Bartter syndrome SLC12A ,00 Bartter syndrome SLC12A ,00 328, ,00 Bartter syndrome SLC12A ,00 Bartter syndrome SLC12A ,00 Bartter syndrome type 1 SLC12A ,00 569, ,00 Bartter syndrome type 2 KCNJ ,00 343,00 766,00 Bartter syndrome type 3 CLCNKB ,00 328, ,00 Bartter syndrome type 4a BSND ,00 Bartter syndrome type 4b CLCNKA ,00 Basal cell carcinoma type 7, susceptibility to, somatic TP ,00 Basal cell nevus syndrome PTCH ,00 328, ,00 Basal cell nevus syndrome PTCH ,00 328, ,00 Basal cell nevus syndrome SUFU ,00 421, ,00 Basal cell nevus syndrome SUFU ,00 421, ,00 Basal cell nevus syndrome due to germline PTCH2 mutation PTCH ,00 Basal ganglia calcification type 1, ideopathic SLC20A ,00 429, ,00 Basal ganglia calcification type 4 PDGFRB ,00 484, ,00 Basal ganglia calcification type 5, idiopathic PDGFB ,00 437,00 942,00 Basal ganglia calcification type 6, idiopathic XPR ,00 445, ,00 B-cell epansion with NFKB and T-cell anergy CARD ,00 Beare-Stevenson cutis gyrata syndrome FGFR ,00 328, ,00 Beckwith-Wiedemann syndrome CDKN1C ,00 328,00 552,00 Beckwith-Wiedemann syndrome chr. 11p15 328,00 Beckwith-Wiedemann syndrome H ,00 328, ,00 Beckwith-Wiedemann syndrome KCNQ1OT ,00 Page 10 of 99

11 gene sequencing duplication (sequencing epansion + del/dup) Beckwith-Wiedemann syndrome NSD ,00 328, ,00 Bent bone dysplasia syndrome FGFR ,00 328, ,00 Bernard Soulier syndrome type A1 GP1BA ,00 Bernard Soulier syndrome type A2 GP1BA ,00 Bernard Soulier syndrome type B GP1BB ,00 Bernard Soulier syndrome type C GP ,00 Bestrophinopathy BEST ,00 328, ,00 Beta-Galactosamide alpha-2,6-sialyltransferase 2 deficiency ST6GAL ,00 Beta-ureidopropionase deficiency UPB ,00 429, ,00 Beta-ureidopropionase deficiency UPB ,00 429, ,00 Bethlem myopathy COL6A ,00 737, ,00 Bethlem myopathy COL6A ,00 590, ,00 Bethlem myopathy type 1 COL6A ,00 755, ,00 Bethlem myopathy type 2 COL12A ,00 905, ,00 Bicuspid aortic valve TIMP ,00 Bietti crystalline corneoretinal dystrophy CYP4V ,00 328,00 907,00 Bifid nose FREM ,00 800, ,00 Bile acid malabsorption, primary SLC10A ,00 Bile acid synthesis defect type 2, congenital AKR1D ,00 Bile acid synthesis defect type 3, congenital CYP7B ,00 421,00 926,00 Bile acid synthesis defect type 4, congenital AMACR ,00 421,00 926,00 Biotinidase deficiency BTD ,00 437, ,00 Birt-Hogg-Dube syndrome FLCN ,00 328,00 907,00 Bjornstad syndrome BCS1L ,00 421, ,00 Bladder cancer, HRAS related, somatic HRAS ,00 Bladder cancer, somatic FGFR ,00 Bladder cancer, somatic KRAS ,00 Bladder cancer, TSC1-related, somatic TSC ,00 Blau syndrome NOD ,00 421, ,00 Bleeding disorder, platelet-type 8 P2RY ,00 Bleeding disorder, platelet-type 15 ACTN ,00 Bleeding disorder, platelet-type 17 GFI1B ,00 Blepharophimosis, epicanthus inversus, and ptosis FOXL ,00 328,00 669,00 Blepharophimosis-ptosis-intellectual disability syndrome UBE3B ,00 Bloom syndrome BLM ,00 484, ,00 Bohring-Opitz syndrome ASXL ,00 426, ,00 Bone marrow failure syndrome type 1 SRP ,00 430, ,00 Bone marrow failure syndrome type 2 ERCC6L ,00 Bone marrow failure syndrome type 2 ERCC6L ,00 Bone mineral density QTL18, osteoporosis PLS ,00 328, ,00 Page 11 of 99

12 gene sequencing duplication (sequencing epansion + del/dup) Borjeson-Forssman-Lehmann syndrome PHF ,00 429, ,00 Bothnia retinal dystrophy RLBP ,00 421,00 844,00 Brachydactyly type A1C GDF ,00 343,00 766,00 Brachydactyly type A2 BMP ,00 Brachydactyly type A2 BMPR1B ,00 Brachydactyly type B1 ROR ,00 328, ,00 Brachydactyly type E1 HOXD ,00 328,00 552,00 Brachydactyly-mental retardation syndrome HDAC ,00 Brachydactyly-syndactyly syndrome HOXD ,00 328,00 552,00 Bradyopsia RGS9BP ,00 Bradyopsia RGS ,00 BRAF somatic Hotspot: c.1799t>a p.v600e BRAF BRAF, selective sequencing of eon 15 BRAF Branched-chain aminotransferase 1 deficiency BCAT ,00 Branched-chain aminotransferase 2 deficiency BCAT ,00 Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK ,00 Branchiooculofacial syndrome TFAP2A ,00 Branchiootic syndrome type 1 EYA ,00 328, ,00 Branchiootorenal syndrome type 1 EYA ,00 328, ,00 Branchiootorenal syndrome type 2 SIX ,00 374,00 961,00 Breast cancer, male, susceptibility to BRCA ,00 330,00 705,00 Breast cancer, RINT1 related RINT ,00 Breast cancer, somatic KRAS ,00 Breast cancer, susceptibility to BARD ,00 Breast cancer, susceptibility to PALB ,00 328, ,00 Breast cancer, susceptibility to RECQL ,00 Breast cancer, susceptibility to XRCC ,00 Breast-ovarian cancer BRCA ,00 330,00 705,00 Breast-ovarian cancer RAD51C ,00 328,00 997,00 Breast-ovarian cancer, familial, susceptibility to, type 4 RAD51D ,00 328,00 974,00 Breast-ovarian cancer, familial, type 2 BRCA ,00 330,00 705,00 Brittle cornea syndrome ZNF ,00 Brody myopathy ATP2A ,00 463, ,00 Bronchiectasis with or without elevated sweat chloride type 2 SCNN1A ,00 421, ,00 Brown-Vialetto-Van Laere syndrome 1 SLC52A ,00 390,00 813,00 Brown-Vialetto-Van Laere syndrome type 2 SLC52A ,00 Brugada syndrome type 1 SCN5A ,00 328, ,00 Brugada syndrome type 2 GPD1L ,00 Brugada syndrome type 3 CACNA1C ,00 905, ,00 Brugada syndrome type 4 CACNB ,00 Page 12 of 99

13 gene sequencing duplication (sequencing epansion + del/dup) Brugada syndrome type 5 SCN1B ,00 374,00 797,00 Brugada syndrome type 6 KCNE ,00 Brugada syndrome type 7 SCN3B ,00 Brugada syndrome type 8 HCN ,00 Brugada syndrome type 9 SLMAP ,00 Brunner syndrome MAOA ,00 Budd-Chiari syndrome F ,00 Buschke-Ollendorff syndrome LEMD ,00 426, ,00 Butyrylcholinesterase deficiency BCHE ,00 437, ,00 C1q deficiency C1QA ,00 C2 deficiency C ,00 C3 deficiency C ,00 704, ,00 C5 deficiency C ,00 905, ,00 C7 deficiency C ,00 C syndrome CD ,00 445, ,00 CADASIL NOTCH ,00 328, ,00 CALR, selective sequencing of eon 9 CALR Campomelic dysplasia SOX ,00 328,00 751,00 Camptodactyly-arthropathy-coa vara-pericarditis syndrome PRG ,00 426, ,00 Camurati-Engelmann disease TGFB ,00 Canavan disease ASPA ,00 328,00 751,00 Cantu syndrome ABCC ,00 905, ,00 Capillary malformation-arteriovenous malformation RASA ,00 328, ,00 CAPOS syndrome ATP1A ,00 328, ,00 CARASIL HTRA ,00 421, ,00 Carbamoylphosphate synthetase I deficiency CPS ,00 821, ,00 Carcinoid tumor of lung, somatic MEN ,00 Carcinoid tumors, intestinal SDHD ,00 328,00 646,00 Cardiac defects, CNOT3 related CNOT ,00 Cardiac defects, PPP1R8 related PPP1R ,00 Cardiac valvular dysplesia, X-linked FLNA ,00 824, ,00 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oidase deficiency SCO ,00 343,00 661,00 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oidase deficiency type 2 COX ,00 421, ,00 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oidase deficiency type 3 COA ,00 Cardiofaciocutaneous syndrome BRAF ,00 Cardiofaciocutaneous syndrome KRAS ,00 421,00 762,00 Cardiofaciocutaneous syndrome type 3 MAP2K ,00 Cardiofaciocutaneous syndrome type 4 MAP2K ,00 429, ,00 Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related MT-ATP ,00 Cardiomyopathy, dilated MYBPC ,00 328, ,00 Page 13 of 99

14 gene sequencing duplication (sequencing epansion + del/dup) Cardiomyopathy, dilated type 1A LMNA ,00 328, ,00 Cardiomyopathy, dilated type 1AA ACTN ,00 Cardiomyopathy, dilated type 1BB DSG ,00 328, ,00 Cardiomyopathy, dilated type 1C LDB ,00 Cardiomyopathy, dilated type 1CC NEXN ,00 Cardiomyopathy, dilated type 1D TNNT ,00 328, ,00 Cardiomyopathy, dilated type 1DD RBM ,00 Cardiomyopathy, dilated type 1E SCN5A ,00 328, ,00 Cardiomyopathy, dilated type 1EE MYH ,00 Cardiomyopathy, dilated type 1G TTN ,00 905, ,00 Cardiomyopathy, dilated type 1GG SDHA ,00 328, ,00 Cardiomyopathy, dilated type 1HH BAG ,00 328,00 915,00 Cardiomyopathy, dilated type 1I DES ,00 421, ,00 Cardiomyopathy, dilated type 1J EYA ,00 437, ,00 Cardiomyopathy, dilated type 1KK MYPN ,00 Cardiomyopathy, dilated type 1L SGCD ,00 328,00 915,00 Cardiomyopathy, dilated type 1LL PRDM ,00 Cardiomyopathy, dilated type 1M CSRP ,00 Cardiomyopathy, dilated type 1N TCAP ,00 343,00 579,00 Cardiomyopathy, dilated type 1O ABCC ,00 905, ,00 Cardiomyopathy, dilated type 1P PLN ,00 Cardiomyopathy, dilated type 1R ACTC ,00 Cardiomyopathy, dilated type 1S MYH ,00 328, ,00 Cardiomyopathy, dilated type 1T TMPO ,00 Cardiomyopathy, dilated type 1U PSEN ,00 328, ,00 Cardiomyopathy, dilated type 1V PSEN ,00 328,00 907,00 Cardiomyopathy, dilated type 1W VCL ,00 Cardiomyopathy, dilated type 1X FKTN ,00 328, ,00 Cardiomyopathy, dilated type 1Y TPM ,00 Cardiomyopathy, dilated type 1Z TNNC ,00 Cardiomyopathy, dilated type 1 CRYAB ,00 Cardiomyopathy, dilated type 2A TNNI ,00 Cardiomyopathy, dilated type 2B GATAD ,00 Cardiomyopathy, dilated type 3B DMD ,00 655, ,00 Cardiomyopathy, dilated with ataia DNAJC ,00 Cardiomyopathy, dilated with hypergonadotropic hypogonadism LMNA ,00 328, ,00 Cardiomyopathy, dilated with woolly hair and keratoderma DSP ,00 328, ,00 Cardiomyopathy, familial hypertrophic CAV ,00 328,00 564,00 Cardiomyopathy, familial hypertrophic type 1 MYH ,00 328, ,00 Cardiomyopathy, familial hypertrophic type 2 TNNT ,00 328, ,00 Page 14 of 99

15 gene sequencing duplication (sequencing epansion + del/dup) Cardiomyopathy, familial hypertrophic type 3 TPM ,00 Cardiomyopathy, familial hypertrophic type 4 MYBPC ,00 328, ,00 Cardiomyopathy, familial hypertrophic type 6 PRKAG ,00 424, ,00 Cardiomyopathy, familial hypertrophic type 7 TNNI ,00 Cardiomyopathy, familial hypertrophic type 8 MYL ,00 Cardiomyopathy, familial hypertrophic type 9 TTN ,00 905, ,00 Cardiomyopathy, familial hypertrophic type 10 MYL ,00 Cardiomyopathy, familial hypertrophic type 11 ACTC ,00 Cardiomyopathy, familial hypertrophic type 12 CSRP ,00 Cardiomyopathy, familial hypertrophic type 16 MYOZ ,00 Cardiomyopathy, familial hypertrophic type 17 JPH ,00 Cardiomyopathy, familial hypertrophic type 19 CALR ,00 Cardiomyopathy, familial restrictive type 1 TNNI ,00 Cardiomyopathy, fatal, MT-TI related MT-TI ,00 Cardiomyopathy, hypertrophic, midventricular, digenic MYLK ,00 Cardiomyopathy, hypertrophic, MT-TG related MT-TG ,00 Cardiomyopathy, hypertrophic, type 18 PLN ,00 Cardiomyopathy, hypertrophic, type 24 LDB ,00 Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related MT-TH ,00 Cardiomyopathy, infantile hypertrophic, MT-ATP8 related MT-ATP ,00 Cardiomyopathy, left ventricular noncompaction, MYH7B related MYH7B ,00 Carney comple type 1 PRKAR1A ,00 429, ,00 Carnitine deficiency SLC22A ,00 328, ,00 Carnitine palmitoyltransferase 1A deficiency CPT1A ,00 430, ,00 Carnitine palmitoyltransferase 1B deficiency CPT1B ,00 Carnitine palmitoyltransferase 2 deficiency, infantile CPT ,00 390, ,00 Carnitine palmitoyltransferase 2 deficiency, lethal neonatal CPT ,00 390, ,00 Carnitine-acylcarnitine translocase deficiency SLC25A ,00 421, ,00 Carotid intimal medial thickness type 1 PPARG ,00 328,00 833,00 Carpenter syndrome RAB ,00 437,00 860,00 Carpenter syndrome type 2 MEGF ,00 721, ,00 Cartilage-hair hypoplasia RMRP ,00 296,00 442,00 Cataract 11, multiple types PITX ,00 Cataract type 17, multiple types CRYBB ,00 Cataract type 23 CRYBA ,00 Cataract type 41 WFS ,00 328,00 974,00 Cataract type 43 UNC45B ,00 Cataract, autosomal dominant GCNT ,00 Cataract, autosomal recessive congenital nuclear type 2 CRYBB ,00 Cataract, autosomal recessive congenital type 1 CRYAA ,00 Page 15 of 99

16 gene sequencing duplication (sequencing epansion + del/dup) Cataract, autosomal recessive congenital type 2 FYCO ,00 Cataract, autosomal recessive congenital type 4 TDRD ,00 Cataract, autosomal recessive type 38 AGK ,00 424, ,00 Cataract, congenital SORD ,00 Cataract, congenital, associated with Marinesco-Sjogren Syndrome SIL ,00 429, ,00 Cataract, cortical pulverulent, late-onset LIM ,00 Cataract, lamellar HSF ,00 Cataract, posterior polar type 2 CRYAB ,00 Cataract, pulverulent or cerulean, with or without microcornea MAF ,00 343,00 661,00 Cataract, X-linked NHS ,00 421, ,00 Cataract-microcornea syndrome GJA ,00 343,00 661,00 Cataracts with facial dysmorphism and neuropathy CTDP ,00 426, ,00 Catechol-o-methyltransferase deficiency COMT ,00 Cell cycle disorder, CDC20 related CDC ,00 Central core disease RYR ,00 655, ,00 Central hypoventilation syndrome with or without Hirschsprung disease PHOX2B ,00 374,00 692,00 200,00 Central hypoventilation syndrome with or without Hirschsprung disease PHOX2B ,00 374,00 692,00 200,00 Central hypoventilation syndrome with or without Hirschsprung disease PHOX2B ,00 374,00 692,00 200,00 Central hypoventilation syndrome, congenital ASCL ,00 328,00 564,00 Central hypoventilation syndrome, congenital ASCL ,00 328,00 564,00 Central hypoventilation syndrome, congenital ASCL ,00 328,00 564,00 Central hypoventilation syndrome, congenital BDNF ,00 328,00 751,00 Central hypoventilation syndrome, congenital ECE ,00 Central hypoventilation syndrome, congenital EDN ,00 328,00 751,00 Central hypoventilation syndrome, congenital GDNF ,00 328,00 669,00 Central hypoventilation syndrome, congenital GFRA ,00 328,00 669,00 Central hypoventilation syndrome, congenital MECP ,00 328,00 646,00 Central hypoventilation syndrome, congenital PHOX2A ,00 374,00 715,00 Central hypoventilation syndrome, congenital RET ,00 328, ,00 Central hypoventilation syndrome, congenital ZEB ,00 328, ,00 Centronuclear myopathy type 1 MTMR ,00 Centronuclear myopathy type 3 MYF ,00 Centronuclear myopathy type 4 CCDC ,00 Cerebellar ataia CP ,00 Cerebellar ataia and mental retardation with or without quadrupedal locomotion type 3 CA ,00 Cerebellar ataia with deafness and narcolepsy, autosomal recessive DNMT ,00 704, ,00 Cerebellar ataia with mental retardation and dysequilibrium syndrome type 2 WDR ,00 Cerebellar ataia with spasticity GBA ,00 424, ,00 Cerebellar ataia, mental retardation, and dysequilibrium syndrome type 4 ATP8A ,00 905, ,00 Cerebellar ataia, nonprogressive, with mental retardation CAMTA ,00 484, ,00 Page 16 of 99

17 gene sequencing duplication (sequencing epansion + del/dup) Cerebellar ataia, SNX14 related SNX ,00 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 VLDLR ,00 328, ,00 Cerebellar-retinal degeneration, infantile ACO ,00 Cerebral amyloid angiopathy CST ,00 437,00 661,00 Cerebral amyloid angiopathy, APP related APP ,00 328, ,00 Cerebral cavernous malformations type 1 KRIT ,00 655, ,00 Cerebral cavernous malformations type 2 CCM ,00 328,00 974,00 Cerebral cavernous malformations type 3 PDCD ,00 328,00 833,00 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome SNAP ,00 Cerebral palsy type 1, spastic quadriplegic GAD ,00 Cerebral palsy type 2, spastic quadriplegic KANK ,00 424, ,00 Cerebrooculofacioskeletal syndrome type 1 ERCC ,00 442, ,00 Cerebrooculofacioskeletal syndrome type 4 ERCC ,00 Cerebrotendinous anthomatosis CYP27A ,00 421, ,00 Ceroid lipofuscinosis neuronal type 1 PPT ,00 421, ,00 Ceroid lipofuscinosis neuronal type 2 TPP ,00 426, ,00 Ceroid lipofuscinosis neuronal type 3 CLN ,00 328,00 833,00 Ceroid lipofuscinosis neuronal type 4 DNAJC ,00 Ceroid lipofuscinosis neuronal type 5 CLN ,00 437,00 778,00 Ceroid lipofuscinosis neuronal type 6 CLN ,00 437,00 942,00 Ceroid lipofuscinosis neuronal type 7 MFSD ,00 426, ,00 Ceroid lipofuscinosis neuronal type 8 CLN ,00 374,00 610,00 Ceroid lipofuscinosis neuronal type 10 CTSD ,00 421, ,00 Ceroid lipofuscinosis neuronal type 11 GRN ,00 328,00 974,00 Cervical cancer, somatic FGFR ,00 Cervical dystonia CIZ ,00 421, ,00 Chanarin-Dorfman syndrome ABHD ,00 437,00 942,00 Charcot-Marie-Tooth disease, aonal type 20 DYNC1H ,00 CHARGE syndrome CHD ,00 328, ,00 Chediak-Higashi syndrome LYST ,00 CHILD syndrome NSDHL ,00 421, ,00 CHIME syndrome PIGL ,00 Chloramphenicol resistance, MT-RNR2 related MT-RNR ,00 Choanal atresia and lymphedema PTPN ,00 Cholestasis benign recurrent intrahepatic type 2 ABCB ,00 590, ,00 Cholestasis intrahepatic, of pregnancy, type 3 ABCB ,00 328, ,00 Cholestasis progressive intrahepatic type 1 ATP8B ,00 590, ,00 Cholestasis progressive intrahepatic type 2 ABCB ,00 590, ,00 Cholestasis progressive intrahepatic type 3 ABCB ,00 328, ,00 Cholestasis, benign recurrent intrahepatic ATP8B ,00 590, ,00 Page 17 of 99

18 gene sequencing duplication (sequencing epansion + del/dup) Cholestasis, infantile, NR1H4 related NR1H ,00 Cholestasis, intrahepatic, of pregnancy, type 1 ATP8B ,00 590, ,00 Cholesteryl ester storage disease LIPA ,00 429, ,00 Chondrocalcinosis type 2 ANKH ,00 Chondrodysplasia punctata, X-linked dominant EBP ,00 Chondrodysplasia punctata, X-linked recessive ARSE ,00 Chondrodysplasia with joint dislocations, GPAPP type IMPAD ,00 Chondrodysplasia, Blomstrand type PTH1R ,00 424, ,00 Chondrosarcoma, familial EXT ,00 328, ,00 Chorea, hereditary benign NKX ,00 328,00 646,00 Choreoacanthocytosis VPS13A ,00 Choroidal dystrophy, central areolar type 2 PRPH ,00 328,00 646,00 Choroideremia CHM ,00 328, ,00 Chrondrodysplasia, acromesomelic, with genital anomalies BMPR1B ,00 Chudley-McCullough syndrome GPSM ,00 445, ,00 Chylomicron retention disease SAR1B ,00 Ciliogenesis related disorder PTPN ,00 Citrin deficiency SLC25A ,00 421, ,00 Citrullinemia ASS ,00 424, ,00 CK syndrome NSDHL ,00 421, ,00 Cleidocranial dysplasia RUNX ,00 328,00 997,00 Club foot PITX ,00 374,00 715,00 CMT1A PMP ,00 328,00 646,00 CMT1B MPZ ,00 328,00 833,00 CMT1C LITAF ,00 CMT1D EGR ,00 328,00 669,00 CMT1E PMP ,00 328,00 646,00 CMT1F NEFL ,00 328,00 751,00 CMT2A1 KIF1B ,00 905, ,00 CMT2A2 MFN ,00 328, ,00 CMT2B1 LMNA ,00 328, ,00 CMT2B2 MED ,00 421, ,00 CMT2B RAB7A ,00 328,00 669,00 CMT2C TRPV ,00 424, ,00 CMT2D GARS ,00 328, ,00 CMT2E NEFL ,00 328,00 751,00 CMT2F HSPB ,00 328,00 552,00 CMT2I MPZ ,00 328,00 833,00 CMT2J MPZ ,00 328,00 833,00 CMT2K GDAP ,00 328,00 751,00 Page 18 of 99

19 gene sequencing duplication (sequencing epansion + del/dup) CMT2L HSPB ,00 328,00 552,00 CMT2N AARS ,00 CMT2P LRSAM ,00 CMT4, CTDP1 related CTDP ,00 426, ,00 CMT4A GDAP ,00 328,00 751,00 CMT4B1 MTMR ,00 328, ,00 CMT4B2 SBF ,00 328, ,00 CMT4C SH3TC ,00 328, ,00 CMT4D NDRG ,00 CMT4E EGR ,00 328,00 669,00 CMT4E MPZ ,00 328,00 833,00 CMT4F PRX ,00 328, ,00 CMT4H FGD ,00 424, ,00 CMT4J FIG ,00 484, ,00 CMTDIF GNB ,00 CMTRIB KARS ,00 CMTRIB KARS ,00 CMTRIB KARS ,00 CMTRID COX6A ,00 CMTX1 GJB ,00 328,00 669,00 CMTX4 AIFM ,00 424, ,00 CMTX5 PRPS ,00 437,00 942,00 CoA-2 4-dienoyl reductase 1 deficiency DECR ,00 CoA-3-hydroyacyl dehydrogenase deficiency HADH ,00 CoA-3-methylcrontonyl carboylase 1 deficiency MCCC ,00 CoA-3-methylcrontonyl carboylase 2 deficiency MCCC ,00 COACH syndrome CC2D2A ,00 800, ,00 COACH syndrome RPGRIP1L ,00 COACH syndrome TMEM ,00 Coarctation of the aorta MCTP ,00 Coat plus syndrome CTC ,00 484, ,00 Cockayne syndrome type A ERCC ,00 421, ,00 Cockayne syndrome type B ERCC ,00 442, ,00 CODAS syndrome LONP ,00 421, ,00 Coenzyme Q10 deficiency type 1 COQ ,00 Coenzyme Q10 deficiency type 2 PDSS ,00 421, ,00 Coenzyme Q10 deficiency type 3 PDSS ,00 437, ,00 Coenzyme Q10 deficiency type 5 COQ ,00 421, ,00 Coffin-Lowry syndrome RPS6KA ,00 328, ,00 Coffin-Siris syndrome, SMARCE1 related SMARCE ,00 429, ,00 Page 19 of 99

20 gene sequencing duplication (sequencing epansion + del/dup) Cohen syndrome VPS13B ,00 655, ,00 Colchicine resistance ABCB ,00 Cold autoinflammatory syndrome type 2 NLRP ,00 Cold-induced sweating syndrome CRLF ,00 Cold-induced sweating syndrome type 2 CLCF ,00 Cole disease ENPP ,00 527, ,00 Coloboma of optic nerve PAX ,00 328, ,00 Coloboma, ocular, autosomal dominant PAX ,00 328, ,00 Colobomatous microphthalmia TENM ,00 674, ,00 Colon cancer, PPARG related, somatic PPARG ,00 Colorectal cancer, hereditary NRAS ,00 Colorectal cancer, hereditary nonpolyposis type 1 MSH ,00 328, ,00 Colorectal cancer, hereditary nonpolyposis type 2 MLH ,00 328, ,00 Colorectal cancer, hereditary nonpolyposis type 4 PMS ,00 328, ,00 Colorectal cancer, hereditary nonpolyposis type 5 MSH ,00 328, ,00 Colorectal cancer, hereditary nonpolyposis type 6 TGFBR ,00 328, ,00 Colorectal cancer, hereditary nonpolyposis type 7 MLH ,00 Colorectal cancer, hereditary nonpolyposis type 8 EPCAM ,00 328,00 997,00 Colorectal cancer, hereditary, susceptibility to CCND ,00 328,00 669,00 Colorectal Cancer, resistance to cetuimab, EGFR related, somatic EGFR ,00 Colorectal cancer, somatic APC ,00 Colorectal cancer, somatic BRAF ,00 Colorectal cancer, somatic CTNNB ,00 Colorectal cancer, somatic DCC ,00 Colorectal cancer, somatic EP ,00 Colorectal cancer, somatic FGFR ,00 Colorectal cancer, somatic FLCN ,00 Colorectal cancer, somatic NRAS ,00 Combined cellular and humoral immune defects with granulomas RAG ,00 328,00 669,00 Combined D-2- and L-2-hydroyglutaric aciduria SLC25A ,00 437, ,00 Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive RAG ,00 328,00 669,00 Combined immunodeficiency, X-linked, moderate IL2RG ,00 Combined malonic and methylmalonic aciduria ACSF ,00 Combined oidative phosphorylation deficiency type 1 GFM ,00 Combined oidative phosphorylation deficiency type 2 MRPS ,00 Combined oidative phosphorylation deficiency type 3 TSFM ,00 Combined oidative phosphorylation deficiency type 4 TUFM ,00 Combined oidative phosphorylation deficiency type 5 MRPS ,00 Combined oidative phosphorylation deficiency type 6 AIFM ,00 424, ,00 Combined oidative phosphorylation deficiency type 7 C12ORF ,00 Page 20 of 99