Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	SNV Germline	Chr1:10324838	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2 Neuroblastoma Malignant tumor of breast Charcot-Marie-Tooth disease Condition: not provided KIF1B-related disorder not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA116990	rs_121908162	10 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001269366 RCV001173590 RCV003237410 RCV004742212 RCV004018562 RCV005394118
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)	SNV Germline	Chr1:10345943	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 1 Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA116993	rs_121908163	4 SubmittersRCV000004924 RCV000490400 RCV000865916 RCV004018563
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)	SNV Germline	Chr4:41747479	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 2 Haddad syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA117902	rs_104893855	3 SubmittersRCV000006382 RCV002227997 RCV002433444
NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)	SNV Germline	Chr4:41747357	Pathogenic	Hirschsprung disease-ganglioneuroblastoma syndrome	No Assertion Criteria Provided	CA117905	rs_28939716	1 SubmittersRCV000006383
NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV Germline/somatic	Chr17:7675088	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Malignant tumor of esophagus Colorectal cancer Ovarian neoplasm Gastric cancer 12 conditions Adrenocortical carcinoma, hereditary Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck TP53-related disorder Familial cancer of breast Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant Medulloblastoma SHH activated and TP53 mutant Undifferentiated embryonal sarcoma of the liver Neuroblastoma IDH-wildtype glioblastoma Small intestine adenocarcinoma	Reviewed By Expert Panel	CA000251	rs_28934578	35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline/somatic	Chr17:7670699	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	ADRENOCORTICAL CARCINOMA, PEDIATRIC Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Breast neoplasm Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary Gastric cancer Neuroblastoma Ovarian cancer Hereditary breast ovarian cancer syndrome 12 conditions TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	28 SubmittersRCV000013178 RCV000197240 RCV000481814 RCV000128923 RCV000576817 RCV000413754 RCV000989700 RCV001375632 RCV003162248 RCV006253508 RCV006555321 RCV002307364 RCV002496338 RCV004797591
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr12:25245351	Pathogenic	Gastric cancer Non-small cell lung carcinoma Ovarian neoplasm Juvenile myelomonocytic leukemia Condition: not provided RASopathy Neoplasm Vascular malformation Cardiofaciocutaneous syndrome 2 Rhabdomyosarcoma Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA135565	rs_121913530	12 SubmittersRCV000013414 RCV000038264 RCV000119790 RCV000144971 RCV000782191 RCV001851824 RCV004668726 RCV004562205 RCV004795403 RCV006253532 RCV006253531
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr11:533875	Pathogenic/Likely pathogenic	Thyroid cancer, nonmedullary, 2 Spermatocytic seminoma Noonan syndrome 3 Condition: not provided Lip and oral cavity carcinoma Epidermal nevus Familial medullary thyroid carcinoma Embryonal rhabdomyosarcoma Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA122547	rs_28933406	6 SubmittersRCV000013434 RCV000022795 RCV000587258 RCV000681435 RCV001255683 RCV004562206 RCV006253533 RCV006253535 RCV006253534
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Neoplasm Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Megalencephaly-capillary malformation-polymicrogyria syndrome Congenital macrodactylia Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation Gastric cancer Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare venous malformation PIK3CA-related disorder Rare combined vascular malformation PIK3CA-Related Overgrowth Spectrum Disorders Nasopharyngeal carcinoma Diffuse midline glioma, H3 K27M-mutant Cervical squamous cell carcinoma Diffuse glioma, H3 G34 mutant Glioma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Adenoid cystic carcinoma Cavernous lymphangioma Embryonal rhabdomyosarcoma	Reviewed By Expert Panel	CA123326	rs_121913279	33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	SNV Germline/somatic	Chr7:140753336	Conflicting classifications of pathogenicity	Carcinoma of colon Papillary thyroid carcinoma Astrocytoma, low-grade, somatic Nongerminomatous germ cell tumor Melanoma Non-small cell lung carcinoma Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Neoplasm Cystic epithelial invagination containing papillae lined by columnar epithelium Colorectal cancer Cerebral arteriovenous malformation Malignant neoplastic disease Nephroblastoma Lymphangioma Vascular malformation Cardiovascular phenotype RASopathy Embryonal rhabdomyosarcoma Spindle cell sarcoma Dysembryoplastic neuroepithelial tumor Pilocytic astrocytoma Thyroid gland undifferentiated (anaplastic) carcinoma Pleomorphic xanthoastrocytoma Ganglioglioma Malignant glioma Epithelioid Glioblastoma Malignant peripheral nerve sheath tumor IDH-wildtype glioblastoma Diffuse leptomeningeal glioneuronal tumor Polymorphous low grade neuroepithelial tumor of the young Benign metanephric tumor Alveolar rhabdomyosarcoma Nodular ganglioneuroblastoma Diffuse low-grade glioma, MAPK pathway–altered Neuroblastoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA123643	rs_113488022	21 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000067669 RCV000037936 RCV000080903 RCV000208763 RCV000430562 RCV000443448 RCV000662278 RCV001030023 RCV000860020 RCV001254874 RCV001248834 RCV002051586 RCV003458334 RCV004018627 RCV005089260 RCV005630703 RCV005630704 RCV006253613 RCV006253599 RCV004719648 RCV006253602 RCV006253603 RCV006253604 RCV005630705 RCV006253606 RCV006253607 RCV006253608 RCV006253610 RCV006253612 RCV006253601 RCV006253609 RCV006253611 RCV006253600 RCV006253605
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	SNV Somatic	Chr7:140753334	Pathogenic	Thyroid cancer, nonmedullary, 2 Carcinoma of colon Non-small cell lung carcinoma Lung adenocarcinoma Neoplasm Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Neuroblastoma	Criteria Provided Single Submitter	CA123645	rs_121913364	5 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000433498 RCV005229793 RCV006253615 RCV006253614
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)	SNV Somatic	Chr7:140753345	Pathogenic	Lung adenocarcinoma Neuroblastoma	No Assertion Criteria Provided	CA123649	rs_121913366	2 SubmittersRCV000015002 RCV006253616
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	SNV Somatic	Chr7:140781602	Pathogenic	Non-Hodgkin lymphoma Non-small cell lung carcinoma Ganglioglioma Nasopharyngeal carcinoma Neoplasm Neuroblastoma	Criteria Provided Single Submitter	CA123655	rs_121913355	4 SubmittersRCV000015005 RCV000150210 RCV006253619 RCV006253618 RCV006273057 RCV006253617
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	SNV Germline/somatic	Chr2:29209798	Pathogenic	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA341482	rs_113994087	10 SubmittersRCV000019709 RCV001268655 RCV002354167 RCV006253671
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	SNV Germline/somatic	Chr2:29222584	Pathogenic; risk factor	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA341484	rs_113994088	4 SubmittersRCV000019710 RCV006253672
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	SNV Germline	Chr2:29220776	Pathogenic	Neuroblastoma, susceptibility to, 3	Criteria Provided Single Submitter	CA341486	rs_113994089	3 SubmittersRCV000019711
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)	SNV Germline	Chr2:29222407	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA341488	rs_113994091	6 SubmittersRCV000019712 RCV001020341 RCV004589517
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile)	SNV Germline	Chr2:29223441	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA342013	rs_113994090	6 SubmittersRCV000020581 RCV000997104 RCV003153305 RCV004948136
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome CLAPO syndrome Abnormal cardiovascular system morphology Segmental undergrowth associated with lymphatic malformation Capillary malformation Condition: not provided Rare combined vascular malformation Cowden syndrome Neoplasm Colorectal cancer Neuroblastoma Medulloblastoma WNT activated IDH-wildtype glioblastoma Immature ovarian teratoma Colon adenocarcinoma PIK3CA-related disorder Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	18 SubmittersRCV000024623 RCV000154512 RCV000201232 RCV000709694 RCV001327960 RCV001705599 RCV001526612 RCV002054475 RCV004527297 RCV003588566 RCV004668743 RCV005603590 RCV006253688 RCV006253690 RCV006253691 RCV006253692 RCV006253687 RCV005867798 RCV006253689
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)	SNV Germline	Chr13:32379480	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Neuroblastoma Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025874	rs_80359143	17 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000505714 RCV000761134 RCV000770734 RCV001082957 RCV005357222
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Prostate cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Ovarian neoplasm Multiple myeloma Adrenocortical carcinoma, hereditary Embryonal rhabdomyosarcoma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Astrocytoma IDH-mutant TP53-related disorder Adenocarcinoma of the large intestine Diffuse midline glioma, H3 K27M-mutant Medulloblastoma WNT activated Primary intracranial sarcoma, DICER1-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	28 SubmittersRCV000144665 RCV000149051 RCV000131966 RCV000205625 RCV000254692 RCV000431786 RCV000785470 RCV004595896 RCV003466889 RCV006253731 RCV006253730 RCV006253732 RCV006253733 RCV004745172 RCV006253737 RCV006253734 RCV006253736 RCV006253735
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)	SNV Germline/somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA345001	rs_281864719	2 SubmittersRCV000055894
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr1:114713909	Conflicting classifications of pathogenicity	Large congenital melanocytic nevus Neurocutaneous melanocytosis Vascular Tumors Including Pyogenic Granuloma Ras Inhibitor response RASopathy Condition: not provided Neoplasm Malignant peripheral nerve sheath tumor Alveolar rhabdomyosarcoma Colorectal cancer Epidermal nevus Large congenital melanocytic nevus Spitzoid melanoma Embryonal rhabdomyosarcoma Atypical teratoid rhabdoid tumor Melanoma Neuroblastoma	Criteria Provided Conflicting Classifications	CA151263	rs_121913254	10 SubmittersRCV000114746 RCV000144964 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV004668769 RCV006253772 RCV006253768 RCV005603598 RCV005624317 RCV006253773 RCV006253769 RCV006253770 RCV006253771 RCV006253767
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)	SNV Germline	Chr2:29232359	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA156608	rs_61754865	7 SubmittersRCV000119968 RCV000226467 RCV002255130 RCV003415905
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)	SNV Germline	Chr2:29225553	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA156617	rs_140733978	9 SubmittersRCV000119971 RCV000475908 RCV002257413 RCV002266923 RCV003952583
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)	SNV Germline	Chr2:29223519	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA156626	rs_72852032	6 SubmittersRCV000119974 RCV000466193 RCV002257414 RCV002508194
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	SNV Germline	Chr2:29193291	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156647	rs_1881423	8 SubmittersRCV000119981 RCV000472979 RCV001356607 RCV002257415 RCV003935135
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)	SNV Germline	Chr2:29193901	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA156650	rs_201768549	8 SubmittersRCV000119982 RCV000731883 RCV001087719 RCV002257416
NM_004304.5(ALK):c.932G>A (p.Arg311His)	SNV Germline	Chr2:29694870	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156656	rs_150966028	10 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136
NM_004304.5(ALK):c.808T>C (p.Phe270Leu)	SNV Germline	Chr2:29694994	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA156659	rs_143229596	5 SubmittersRCV000119985 RCV000463094 RCV003126501 RCV004948185
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)	SNV Germline	Chr2:29531969	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA156662	rs_144030155	7 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611 RCV004745197
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	SNV Germline	Chr4:41746135	Conflicting classifications of pathogenicity	not specified Condition: not provided Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Neuroblastoma, susceptibility to, 2 Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Criteria Provided Conflicting Classifications	CA161478	rs_587778606	6 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052 RCV005031628
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)	SNV Germline	Chr1:10337518	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2A1 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA233110	rs_374098797	6 SubmittersRCV000143820 RCV001065481 RCV001173597 RCV003485542 RCV004019754 RCV005042280
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	SNV Germline	Chr1:10361732	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications	CA233113	rs_200561798	10 SubmittersRCV000143821 RCV001098766 RCV001080346 RCV001174215 RCV004019755
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)	SNV Germline	Chr1:10275444	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Condition: not provided not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA270941	rs_373698346	8 SubmittersRCV000144876 RCV000167979 RCV001530983 RCV004019760 RCV005031650
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr11:533874	Likely pathogenic	Linear nevus sebaceous syndrome Condition: not provided Vascular Tumors Including Pyogenic Granuloma Noonan syndrome and Noonan-related syndrome Salivary gland neoplasm 6 conditions Neuroblastoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA173968	rs_121913233	8 SubmittersRCV000148033 RCV000157918 RCV000662268 RCV001813393 RCV001844808 RCV004796045 RCV006253831 RCV006273567
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	SNV Germline	Chr1:10343244	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Neuroblastoma Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA202589	rs_147318592	10 SubmittersRCV000177655 RCV000198749 RCV000373531 RCV001173612 RCV001706137
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)	SNV Somatic	Chr2:29209789	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279600	rs_863225285	1 SubmittersRCV000201889
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)	SNV Somatic	Chr2:29213992	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279621	rs_863225284	1 SubmittersRCV000201908
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)	SNV Somatic	Chr2:29213993	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA279597	rs_863225283	2 SubmittersRCV000201887 RCV006253887
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)	SNV Somatic	Chr2:29213994	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA277846	rs_281864720	2 SubmittersRCV000201924 RCV006253886
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)	SNV Somatic	Chr2:29214009	Likely pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279618	rs_863225282	1 SubmittersRCV000201906
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA279616	rs_863225281	2 SubmittersRCV000201904 RCV006253885
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279586	rs_863225281	1 SubmittersRCV000201882
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)	SNV Somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3 Neoplasm	No Assertion Criteria Provided	CA277829	rs_281864719	2 SubmittersRCV000201883 RCV006273629
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)	SNV Somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA277834	rs_281864719	2 SubmittersRCV000201918 RCV006253884
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	SNV Germline/somatic	Chr12:112450385	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 1 Cardiovascular phenotype Neuroblastoma Juvenile myelomonocytic leukemia Pilocytic astrocytoma Diffuse midline glioma, H3 K27M-mutant Neoplasm	Criteria Provided Conflicting Classifications	CA354979	rs_397507511	6 SubmittersRCV000210038 RCV001250211 RCV002415881 RCV006253894 RCV005251095 RCV006253893 RCV006253895 RCV006273638
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	SNV Somatic	Chr8:38417331	Pathogenic	Encephalocraniocutaneous lipomatosis Rosette-forming glioneuronal tumor Neoplasm Dysembryoplastic neuroepithelial tumor Embryonal rhabdomyosarcoma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Primary intracranial sarcoma, DICER1-mutant Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA357830	rs_779707422	8 SubmittersRCV000210485 RCV000487433 RCV004668850 RCV006253901 RCV006253897 RCV006253896 RCV006253898 RCV006253900 RCV006253899
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)	SNV Germline	Chr2:29193479	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593529	rs_147241767	3 SubmittersRCV000232180 RCV002338733
NM_004304.5(ALK):c.4275G>A (p.Leu1425=)	SNV Germline	Chr2:29193812	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593605	rs_749418931	7 SubmittersRCV000228085 RCV001566391 RCV003417825 RCV004948228
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)	SNV Germline	Chr2:29220752	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1593854	rs_200585833	8 SubmittersRCV000229337 RCV000573898 RCV002284382 RCV004745300
NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu)	SNV Germline	Chr2:29223444	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594025	rs_138589984	7 SubmittersRCV000231894 RCV002256164 RCV004725109
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)	SNV Germline	Chr2:29239796	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594381	rs_762395127	5 SubmittersRCV000230160 RCV002429113 RCV004767185
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)	SNV Germline	Chr2:29251160	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 not specified Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594424	rs_147858673	10 SubmittersRCV000226263 RCV000507604 RCV002305468 RCV002256160 RCV003955342
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)	SNV Germline	Chr2:29328388	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1594674	rs_773380015	4 SubmittersRCV000231007 RCV002378996 RCV003417821 RCV004725108
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)	SNV Germline	Chr2:29532002	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594770	rs_773367495	4 SubmittersRCV000230394 RCV002411042 RCV004760459
NM_004304.5(ALK):c.472C>A (p.Pro158Thr)	SNV Germline	Chr2:29920188	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594960	rs_536284304	3 SubmittersRCV000231787 RCV004948229
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)	SNV Germline	Chr2:29920191	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594963	rs_74774946	8 SubmittersRCV000229990 RCV001022915 RCV001824304 RCV004745302
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)	SNV Germline	Chr2:29920350	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595006	rs_576431612	5 SubmittersRCV000229111 RCV002307461 RCV002257559
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	SNV Germline	Chr4:41745920	Conflicting classifications of pathogenicity	Congenital central hypoventilation Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Haddad syndrome Condition: not provided PHOX2B-related disorder not specified	Criteria Provided Conflicting Classifications	CA2901407	rs_138545772	8 SubmittersRCV000229358 RCV001017576 RCV001145118 RCV001391323 RCV001753699 RCV003919957 RCV004800351
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	SNV Germline	Chr4:41745992	Conflicting classifications of pathogenicity	Congenital central hypoventilation Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Haddad syndrome Condition: not provided PHOX2B-related disorder	Criteria Provided Conflicting Classifications	CA2901440	rs_766767855	7 SubmittersRCV000228402 RCV001026621 RCV001145120 RCV001358783 RCV003153530 RCV003422142
NM_198253.3(TERT):c.-57A>C	SNV Germline/somatic	Chr5:1295046	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Malignant tumor of urinary bladder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Neoplasm Dyskeratosis congenita Neuroblastoma	Criteria Provided Conflicting Classifications	CA10582367	rs_878855297	11 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004668870 RCV004822022 RCV006253924
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)	SNV Germline	Chr1:10282440	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 Condition: not provided not specified KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA580938	rs_763679404	5 SubmittersRCV000352133 RCV000405571 RCV004584662 RCV004021333 RCV004742372
NM_001365951.3(KIF1B):c.107-8T>A	SNV Germline	Chr1:10256239	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided Charcot-Marie-Tooth disease type 2 KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA580614	rs_749389756	5 SubmittersRCV000287514 RCV001699285 RCV002518172 RCV003977816
NM_001365951.3(KIF1B):c.364-15A>G	SNV Germline	Chr1:10261890	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA580684	rs_771929965	3 SubmittersRCV000322651 RCV002522047 RCV006452578
NM_001365951.3(KIF1B):c.364-10A>G	SNV Germline	Chr1:10261895	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10607191	rs_886044966	2 SubmittersRCV000337868 RCV006462364
NM_001365951.3(KIF1B):c.1360T>C (p.Leu454=)	SNV Germline	Chr1:10282459	Conflicting classifications of pathogenicity	Neuroblastoma not specified	Criteria Provided Conflicting Classifications	CA10607200	rs_886044977	2 SubmittersRCV000312133 RCV004021334
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	SNV Germline	Chr1:10256286	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Condition: not provided not specified Meniere disease Neuroblastoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA580622	rs_143654307	8 SubmittersRCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840 RCV000347279 RCV005055103
NM_001365951.3(KIF1B):c.721-15A>G	SNV Germline	Chr1:10271487	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA580774	rs_755866386	2 SubmittersRCV000309335 RCV002519361
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)	SNV Germline	Chr1:10296990	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications	CA581132	rs_142881321	4 SubmittersRCV000306544 RCV000366147 RCV001174213 RCV004021336
NM_001365951.3(KIF1B):c.3129+11G>T	SNV Germline	Chr1:10336753	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA581706	rs_201224213	2 SubmittersRCV000328901 RCV002061150
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)	SNV Germline	Chr1:10365579	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 KIF1B-related disorder not specified	Criteria Provided Conflicting Classifications	CA582148	rs_751084365	4 SubmittersRCV000322778 RCV003581649 RCV003897663 RCV004021349
NM_001365951.3(KIF1B):c.3423-15A>T	SNV Germline	Chr1:10339754	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA581779	rs_200470260	5 SubmittersRCV000305426 RCV001173611 RCV004713482 RCV005638486 RCV005891453
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)	SNV Germline	Chr1:10334580	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Neuroblastoma Charcot-Marie-Tooth disease Condition: not provided KIF1B-related disorder not specified	Criteria Provided Conflicting Classifications	CA581660	rs_150904940	6 SubmittersRCV000267896 RCV000359940 RCV001172608 RCV003422205 RCV003910052 RCV004021338
NM_001365951.3(KIF1B):c.4179T>C (p.His1393=)	SNV Germline	Chr1:10361700	Conflicting classifications of pathogenicity	Neuroblastoma not specified	Criteria Provided Conflicting Classifications	CA582011	rs_772429569	2 SubmittersRCV000385601 RCV004021347
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)	SNV Germline	Chr1:10368534	Conflicting classifications of pathogenicity	Neuroblastoma not specified KIF1B-related disorder Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1	Criteria Provided Conflicting Classifications	CA582184	rs_145969842	5 SubmittersRCV000373752 RCV004021350 RCV003417930 RCV000469029 RCV003485573
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)	SNV Germline	Chr1:10339802	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA581786	rs_574168097	3 SubmittersRCV000365817 RCV003743696 RCV004021340
NM_001365951.3(KIF1B):c.*2268C>T	SNV Germline	Chr1:10378855	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10607297	rs_574858597	2 SubmittersRCV000352426 RCV003221889
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)	SNV Germline	Chr1:10343253	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA10607306	rs_868389032	3 SubmittersRCV000262490 RCV001429983 RCV004021342
NM_001365951.3(KIF1B):c.*3639T>C	SNV Germline	Chr1:10380226	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10607313	rs_551392566	2 SubmittersRCV000301066 RCV003422209
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)	SNV Germline	Chr1:10361028	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA581994	rs_760253167	3 SubmittersRCV000290187 RCV001859741 RCV004021346
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)	SNV Germline	Chr1:10374995	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 KIF1B-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA582296	rs_146436697	5 SubmittersRCV000306164 RCV000467676 RCV003967815 RCV004021351 RCV006435031
NM_001365951.3(KIF1B):c.*839C>T	SNV Germline	Chr1:10377426	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10607340	rs_549614550	2 SubmittersRCV000343578 RCV003422207
NM_004304.5(ALK):c.4433T>C (p.Met1478Thr)	SNV Germline	Chr2:29193654	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593574	rs_141010693	6 SubmittersRCV000469389 RCV002255369 RCV002291619
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)	SNV Germline	Chr2:29193712	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593586	rs_372612147	5 SubmittersRCV000555867 RCV002256210 RCV004760482
NM_004304.5(ALK):c.2488A>T (p.Met830Leu)	SNV Germline	Chr2:29232448	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594284	rs_780536554	5 SubmittersRCV000469900 RCV004725175 RCV005338147
NM_004304.5(ALK):c.510C>T (p.Leu170=)	SNV Germline	Chr2:29920150	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10613155	rs_886055933	3 SubmittersRCV000370379 RCV003352842
NM_004304.5(ALK):c.507T>C (p.Asn169=)	SNV Germline	Chr2:29920153	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594950	rs_780271684	2 SubmittersRCV000275905 RCV004021813
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)	SNV Germline	Chr2:29920350	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595007	rs_576431612	4 SubmittersRCV000530879 RCV002323541 RCV004725176
NM_004304.5(ALK):c.-415T>C	SNV Germline	Chr2:29921074	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10613172	rs_755231246	2 SubmittersRCV000392419 RCV002263610
NM_004304.5(ALK):c.2901C>A (p.Thr967=)	SNV Germline	Chr2:29227587	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10613632	rs_886055930	4 SubmittersRCV000407364 RCV003441845 RCV002436199
NM_004304.5(ALK):c.1550A>G (p.His517Arg)	SNV Germline	Chr2:29318401	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594612	rs_367674546	5 SubmittersRCV000529454 RCV001526802 RCV002402059 RCV003148707
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)	SNV Germline	Chr2:29193743	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10615007	rs_886055929	3 SubmittersRCV000543309 RCV002328860
NM_004304.5(ALK):c.930G>T (p.Glu310Asp)	SNV Germline	Chr2:29694872	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594812	rs_367712624	6 SubmittersRCV000551970 RCV002255145 RCV004694556
NM_004304.5(ALK):c.655A>G (p.Ile219Val)	SNV Germline	Chr2:29920005	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10615011	rs_886055932	5 SubmittersRCV000706113 RCV003156239 RCV005338148
NM_004304.5(ALK):c.386G>T (p.Gly129Val)	SNV Germline	Chr2:29920274	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594986	rs_760041708	5 SubmittersRCV000647443 RCV003401357 RCV004021814
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)	SNV Germline	Chr2:29920628	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595067	rs_767822322	7 SubmittersRCV000647453 RCV000997105 RCV002257647
NM_003924.4(PHOX2B):c.*18G>A	SNV Germline	Chr4:41745789	Conflicting classifications of pathogenicity	Congenital central hypoventilation Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901382	rs_776498322	1 SubmittersRCV000271948 RCV000366615
NM_003924.4(PHOX2B):c.*19C>A	SNV Germline	Chr4:41745788	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 2 Congenital central hypoventilation	Criteria Provided Conflicting Classifications	CA2901381	rs_770841700	1 SubmittersRCV000306960 RCV000397644
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	SNV Germline	Chr4:41745979	Conflicting classifications of pathogenicity	Congenital central hypoventilation Neuroblastoma, susceptibility to, 2 Hereditary cancer-predisposing syndrome Haddad syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2901428	rs_747626591	9 SubmittersRCV000268582 RCV000323710 RCV001026770 RCV001507229 RCV003228923 RCV003151040
NM_003924.4(PHOX2B):c.*60G>A	SNV Germline	Chr4:41745747	Conflicting classifications of pathogenicity	Congenital central hypoventilation Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA10621097	rs_558416040	1 SubmittersRCV000285434 RCV000335743
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	SNV Germline	Chr4:41746023	Conflicting classifications of pathogenicity	Congenital central hypoventilation Neuroblastoma, susceptibility to, 2 Haddad syndrome Hereditary cancer-predisposing syndrome PHOX2B-related disorder	Criteria Provided Conflicting Classifications	CA2901451	rs_751829128	4 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240 RCV004752872
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	SNV Germline/somatic	Chr1:114713908	Conflicting classifications of pathogenicity	RASopathy Colorectal cancer Neuroblastoma Embryonal rhabdomyosarcoma	Criteria Provided Conflicting Classifications	CA16602361	rs_11554290	3 SubmittersRCV002524687 RCV005603619 RCV006253944 RCV006253945
NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys)	SNV Germline/somatic	Chr2:29220830	Likely pathogenic	ALK-related disorder Neuroblastoma	Criteria Provided Single Submitter	CA16602370	rs_1057519697	2 SubmittersRCV003401411 RCV006253948
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	SNV Germline	Chr2:29193292	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593480	rs_373037272	7 SubmittersRCV000470897 RCV002298594 RCV004948298
NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala)	SNV Germline	Chr2:29193384	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593508	rs_763613910	4 SubmittersRCV000458834 RCV004591285 RCV004948295
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)	SNV Germline	Chr2:29193887	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1593626	rs_143647372	6 SubmittersRCV000471219 RCV001022040 RCV003392267
NM_004304.5(ALK):c.2822A>G (p.Asn941Ser)	SNV Germline	Chr2:29227666	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594166	rs_368654781	5 SubmittersRCV000473788 RCV003227750 RCV003392268 RCV005582312
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)	SNV Germline	Chr2:29239751	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594369	rs_751419856	2 SubmittersRCV000476112 RCV002446771
NM_004304.5(ALK):c.2016A>T (p.Arg672Ser)	SNV Germline	Chr2:29275124	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16610715	rs_1060500225	2 SubmittersRCV000457475 RCV004948306
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)	SNV Germline	Chr2:29213985	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593801	rs_145028315	4 SubmittersRCV000657739 RCV001086604 RCV001021020
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)	SNV Germline	Chr2:29717590	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA1594872	rs_771593278	6 SubmittersRCV000468417 RCV002256243 RCV003226926 RCV005898435
NM_004304.5(ALK):c.615C>G (p.Ser205=)	SNV Germline	Chr2:29920045	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594934	rs_567498111	3 SubmittersRCV000456861 RCV001024960
NM_004304.5(ALK):c.1999G>A (p.Gly667Arg)	SNV Germline	Chr2:29275141	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594466	rs_539763601	5 SubmittersRCV000459331 RCV004948296
NM_004304.5(ALK):c.1983C>A (p.Asn661Lys)	SNV Germline	Chr2:29275157	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594472	rs_758860363	3 SubmittersRCV000476121 RCV005338176
NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)	SNV Germline	Chr2:29297053	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594566	rs_374136388	2 SubmittersRCV000460471 RCV004948302
NM_004304.5(ALK):c.1648C>T (p.Leu550Phe)	SNV Germline	Chr2:29297057	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA1594568	rs_769821764	4 SubmittersRCV000467087 RCV002256282 RCV003153651
NM_004304.5(ALK):c.892G>A (p.Ala298Thr)	SNV Germline	Chr2:29694910	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594826	rs_577240830	4 SubmittersRCV000457871 RCV005054193 RCV005338172
NM_004304.5(ALK):c.206G>A (p.Arg69Gln)	SNV Germline	Chr2:29920454	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595025	rs_769061878	5 SubmittersRCV000456939 RCV002257684 RCV002291626
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)	SNV Germline	Chr2:29193441	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593523	rs_199646095	5 SubmittersRCV000462396 RCV000482658 RCV002329015
NM_004304.5(ALK):c.76G>A (p.Gly26Ser)	SNV Germline	Chr2:29920584	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16610758	rs_1060500214	4 SubmittersRCV000458240 RCV004591288 RCV004948299
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)	SNV Germline	Chr2:29214035	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593804	rs_200110351	5 SubmittersRCV000474175 RCV000569692 RCV002305487
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)	SNV Germline	Chr2:29222605	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593974	rs_55760835	6 SubmittersRCV000467869 RCV000571840 RCV002473007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)	SNV Germline	Chr2:29225473	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594061	rs_375889530	7 SubmittersRCV000464094 RCV000761163 RCV002285331 RCV002256242
NM_004304.5(ALK):c.3133G>A (p.Val1045Met)	SNV Germline	Chr2:29225500	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594065	rs_200641396	4 SubmittersRCV000462948 RCV002289587 RCV004948297
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)	SNV Germline	Chr2:29225518	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594071	rs_200080181	6 SubmittersRCV000467803 RCV000761097 RCV002284391 RCV004948304
NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr2:29233636	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594321	rs_80227749	5 SubmittersRCV000459873 RCV003409611 RCV004722761 RCV004948300
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)	SNV Germline	Chr2:29275222	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594482	rs_144453491	7 SubmittersRCV000474932 RCV002258899 RCV003488597
NM_004304.5(ALK):c.1190A>T (p.Asp397Val)	SNV Germline	Chr2:29383824	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594724	rs_368122868	5 SubmittersRCV000462810 RCV004772912 RCV004948308
NM_004304.5(ALK):c.926C>T (p.Ala309Val)	SNV Germline	Chr2:29694876	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16610811	rs_748017801	3 SubmittersRCV000456305 RCV002374742 RCV003159119
NM_004304.5(ALK):c.925G>A (p.Ala309Thr)	SNV Germline	Chr2:29694877	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594814	rs_145681577	2 SubmittersRCV000476286 RCV004948301
NM_004304.5(ALK):c.875G>A (p.Arg292His)	SNV Germline	Chr2:29694927	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594830	rs_149145987	5 SubmittersRCV000473638 RCV002256241 RCV004719821
NM_004304.5(ALK):c.872G>A (p.Arg291His)	SNV Germline	Chr2:29694930	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594833	rs_572340007	6 SubmittersRCV000465368 RCV003153577 RCV004760497 RCV004948305
NM_004304.5(ALK):c.782G>A (p.Arg261Gln)	SNV Germline	Chr2:29717583	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 not specified ALK-related disorder Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594870	rs_375097381	6 SubmittersRCV000460065 RCV003151057 RCV003401448 RCV003225068 RCV004948303
NM_004304.5(ALK):c.4845G>A (p.Met1615Ile)	SNV Germline	Chr2:29193242	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593462	rs_747978928	2 SubmittersRCV000457300 RCV005338169
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)	SNV Germline	Chr2:29193286	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593478	rs_376702277	7 SubmittersRCV000475870 RCV002339111 RCV004591286
NM_004304.5(ALK):c.4303G>A (p.Glu1435Lys)	SNV Germline	Chr2:29193784	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593602	rs_769694344	2 SubmittersRCV000470259 RCV005338171
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)	SNV Germline	Chr2:29232376	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594263	rs_189078025	3 SubmittersRCV000464123 RCV002451070
NM_004304.5(ALK):c.2012C>T (p.Pro671Leu)	SNV Germline	Chr2:29275128	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594464	rs_767998637	3 SubmittersRCV000476479 RCV004722763 RCV005338174
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)	SNV Germline	Chr2:29193251	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593465	rs_78174819	3 SubmittersRCV000478470 RCV001856865 RCV004948365
NM_004304.5(ALK):c.1753G>A (p.Ala585Thr)	SNV Germline	Chr2:29296952	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594543	rs_772496459	4 SubmittersRCV000478482 RCV000818616 RCV005338196
NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)	SNV Germline/somatic	Chr3:179199103	Pathogenic	Condition: not provided Global developmental delay Hypospadias Macrocephaly Cowden syndrome 5 Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16617846	rs_1064793663	4 SubmittersRCV000487221 RCV002464207 RCV005252905 RCV006254062
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)	SNV Germline/somatic	Chr13:32332553	Conflicting classifications of pathogenicity	Neuroblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA387761412	rs_1555281730	3 SubmittersRCV000505644 RCV000776715
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)	SNV Germline	Chr1:10276376	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Neuroblastoma KIF1B-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA580866	rs_150411706	5 SubmittersRCV000560282 RCV001099772 RCV003980040 RCV004024390 RCV005865347
NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)	SNV Germline	Chr1:10282463	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA580946	rs_201474903	3 SubmittersRCV000534091 RCV004024377 RCV005398866
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)	SNV Germline	Chr1:10374971	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA582290	rs_774464311	3 SubmittersRCV000558923 RCV004024388 RCV005010525
NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe)	SNV Germline	Chr2:29193744	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer	Criteria Provided Conflicting Classifications	CA346462550	rs_1553387094	2 SubmittersRCV000530604 RCV003153720
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu)	SNV Germline	Chr2:29193894	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593630	rs_531490912	5 SubmittersRCV000540490 RCV003226944 RCV004948443
NM_004304.5(ALK):c.2712T>A (p.His904Gln)	SNV Germline	Chr2:29228987	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594212	rs_766742720	5 SubmittersRCV000534250 RCV004772984 RCV005338241
NM_004304.5(ALK):c.2269G>A (p.Val757Met)	SNV Germline	Chr2:29239766	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594372	rs_371005946	6 SubmittersRCV000528414 RCV003153718 RCV003225087 RCV005338238
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr)	SNV Germline	Chr2:29296949	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594541	rs_75158395	3 SubmittersRCV000555720 RCV003318593 RCV004024155
NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)	SNV Germline	Chr2:29320769	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594630	rs_201449759	4 SubmittersRCV000532921 RCV003900208 RCV004719868 RCV004948439
NM_004304.5(ALK):c.1189G>A (p.Asp397Asn)	SNV Germline	Chr2:29383825	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594725	rs_747810439	4 SubmittersRCV000536445 RCV004948434 RCV004691890
NM_004304.5(ALK):c.1184G>A (p.Arg395His)	SNV Germline	Chr2:29383830	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594726	rs_769910087	8 SubmittersRCV000560261 RCV002258962 RCV003325492
NM_004304.5(ALK):c.922G>A (p.Gly308Arg)	SNV Germline	Chr2:29694880	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346586865	rs_1553348499	2 SubmittersRCV000539346 RCV005328310
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)	SNV Germline	Chr2:29193877	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593623	rs_757615099	6 SubmittersRCV000553113 RCV003153719 RCV004024161 RCV004592596
NM_004304.5(ALK):c.699G>A (p.Met233Ile)	SNV Germline	Chr2:29717666	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594893	rs_778129557	4 SubmittersRCV000559983 RCV004948445 RCV004592597
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)	SNV Germline	Chr2:29920520	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595037	rs_541315214	5 SubmittersRCV000551780 RCV001356620 RCV004948438
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)	SNV Germline	Chr2:29920653	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590865	rs_1446332510	3 SubmittersRCV000538902 RCV002420488
NM_004304.5(ALK):c.3646-5C>T	SNV Germline	Chr2:29214086	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658655644	rs_1444967093	2 SubmittersRCV000558711 RCV004024159
NM_004304.5(ALK):c.2979C>T (p.Asp993=)	SNV Germline	Chr2:29227010	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594119	rs_761999849	4 SubmittersRCV000540706 RCV002257823 RCV005256634
NM_004304.5(ALK):c.2073C>T (p.Ser691=)	SNV Germline	Chr2:29251236	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594441	rs_370435082	5 SubmittersRCV000558370 RCV002420486 RCV005641688
NM_004304.5(ALK):c.1283-5T>C	SNV Germline	Chr2:29328486	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594689	rs_377214413	7 SubmittersRCV000731880 RCV001088281 RCV001775059 RCV002257821
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)	SNV Germline	Chr2:29383831	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594727	rs_779282861	5 SubmittersRCV000542876 RCV002255453 RCV004772982
NM_004304.5(ALK):c.350C>G (p.Pro117Arg)	SNV Germline	Chr2:29920310	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594997	rs_201290745	6 SubmittersRCV000541277 RCV002257825 RCV003159885
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)	SNV Germline	Chr2:29214036	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593805	rs_771475772	4 SubmittersRCV000535025 RCV001020893 RCV003332196
NM_004304.5(ALK):c.3081G>A (p.Pro1027=)	SNV Germline	Chr2:29225552	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594086	rs_747320964	3 SubmittersRCV000554570 RCV005256635 RCV005338243
NM_004304.5(ALK):c.2417G>A (p.Arg806His)	SNV Germline	Chr2:29233635	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594319	rs_761568836	5 SubmittersRCV000539294 RCV002258963 RCV004592594
NM_004304.5(ALK):c.3055G>A (p.Val1019Ile)	SNV Germline	Chr2:29226934	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594108	rs_76742576	4 SubmittersRCV000546699 RCV004948441
NM_004304.5(ALK):c.2263C>A (p.His755Asn)	SNV Germline	Chr2:29239772	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA44642976	rs_925915337	6 SubmittersRCV000547844 RCV002448743 RCV004721433
NM_004304.5(ALK):c.2304T>C (p.Asp768=)	SNV Germline	Chr2:29239731	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594367	rs_758649392	3 SubmittersRCV000549077 RCV002448745
NM_004304.5(ALK):c.1705G>A (p.Val569Met)	SNV Germline	Chr2:29297000	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594555	rs_754971913	2 SubmittersRCV000524799 RCV005582341
NM_004304.5(ALK):c.1725G>C (p.Lys575Asn)	SNV Germline	Chr2:29296980	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44643058	rs_1010580453	4 SubmittersRCV000538689 RCV002245007 RCV003159883
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)	SNV Germline	Chr2:29296985	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Diffuse midline glioma, H3 K27-altered Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594552	rs_762358335	9 SubmittersRCV000525971 RCV002256381 RCV003313100 RCV003236815 RCV003962544
NM_004304.5(ALK):c.1279G>A (p.Glu427Lys)	SNV Germline	Chr2:29383735	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594707	rs_371652715	5 SubmittersRCV000537783 RCV002384194 RCV004760582
NM_004304.5(ALK):c.1670G>A (p.Arg557His)	SNV Germline	Chr2:29297035	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594560	rs_200468507	5 SubmittersRCV000535999 RCV003441935 RCV005338237
NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)	SNV Germline	Chr2:29318404	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594613	rs_761724656	2 SubmittersRCV000553296 RCV002404504
NM_004304.5(ALK):c.1108G>A (p.Glu370Lys)	SNV Germline	Chr2:29531961	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594766	rs_373120394	5 SubmittersRCV000555000 RCV004760581 RCV005338235
NM_004304.5(ALK):c.781C>T (p.Arg261Ter)	SNV Germline	Chr2:29717584	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44979597	rs_972790555	3 SubmittersRCV000550182 RCV003409805 RCV005582347
NM_004304.5(ALK):c.661G>C (p.Gly221Arg)	SNV Germline	Chr2:29919999	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594926	rs_199584443	5 SubmittersRCV000560898 RCV001025462 RCV004760585
NM_004304.5(ALK):c.233C>G (p.Ser78Trp)	SNV Germline	Chr2:29920427	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590433	rs_748978993	3 SubmittersRCV000555107 RCV004948440
NM_004304.5(ALK):c.118C>T (p.Pro40Ser)	SNV Germline	Chr2:29920542	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595044	rs_371679329	3 SubmittersRCV000544242 RCV004722906 RCV004948435
NM_004304.5(ALK):c.13G>A (p.Gly5Arg)	SNV Germline	Chr2:29920647	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590852	rs_1272214012	2 SubmittersRCV000534322 RCV004948437
NM_004304.5(ALK):c.153G>A (p.Arg51=)	SNV Germline	Chr2:29920507	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595034	rs_200204526	3 SubmittersRCV000540965 RCV002404503 RCV005250076
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)	SNV Germline	Chr2:29920553	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1595046	rs_773691688	3 SubmittersRCV000525534 RCV002420484 RCV003403320
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)	SNV Germline	Chr4:41745956	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA356737122	rs_1260084723	4 SubmittersRCV000547484 RCV001027018 RCV003129903 RCV004568824
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	SNV Germline	Chr4:41747387	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2901525	rs_748614674	4 SubmittersRCV000536791 RCV001021436 RCV003476288 RCV004722895
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	SNV Germline	Chr4:41748465	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2901603	rs_559227588	4 SubmittersRCV000545357 RCV001011753 RCV003476287 RCV003324762
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)	SNV Germline	Chr2:29220706	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1593836	rs_775768862	3 SubmittersRCV000575880 RCV000685406 RCV003409847
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)	SNV Germline	Chr2:29223363	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1594004	rs_199987354	6 SubmittersRCV000566636 RCV000647454 RCV001354522
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)	SNV Germline	Chr2:29222601	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593971	rs_758871506	3 SubmittersRCV000575047 RCV000869370
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	SNV Germline	Chr4:41748384	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Haddad syndrome Congenital central hypoventilation Neuroblastoma, susceptibility to, 2 Neuroblastoma, susceptibility to, 2 Condition: not provided PHOX2B-related disorder	Criteria Provided Conflicting Classifications	CA2901598	rs_532711949	7 SubmittersRCV000565021 RCV000643944 RCV000764535 RCV003471903 RCV002510925 RCV003945354
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)	SNV Germline	Chr2:29223465	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594031	rs_754163075	4 SubmittersRCV000647442 RCV002449062 RCV003128677
NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser)	SNV Germline	Chr2:29193339	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593494	rs_751677905	4 SubmittersRCV000647469 RCV002285387 RCV005338289
NM_004304.5(ALK):c.1834G>A (p.Val612Ile)	SNV Germline	Chr2:29275480	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346480020	rs_1431784023	3 SubmittersRCV000647450 RCV003313125 RCV005338288
NM_004304.5(ALK):c.3939-9C>T	SNV Germline	Chr2:29197685	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593711	rs_749848775	2 SubmittersRCV000647519
NM_004304.5(ALK):c.1148A>T (p.Lys383Met)	SNV Germline	Chr2:29531921	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594761	rs_140928266	7 SubmittersRCV000647404 RCV003226963 RCV004948534
NM_004304.5(ALK):c.941A>G (p.Glu314Gly)	SNV Germline	Chr2:29694861	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594807	rs_778845512	3 SubmittersRCV000647433 RCV004948537
NM_004304.5(ALK):c.822G>A (p.Leu274=)	SNV Germline	Chr2:29694980	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425520848	rs_1265006535	3 SubmittersRCV000647384 RCV004629269
NM_004304.5(ALK):c.628G>A (p.Ala210Thr)	SNV Germline	Chr2:29920032	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594931	rs_755697363	2 SubmittersRCV000647412 RCV005582374
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)	SNV Germline	Chr2:29920044	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594933	rs_141093002	5 SubmittersRCV000647466 RCV002255491 RCV003488760
NM_004304.5(ALK):c.506A>G (p.Asn169Ser)	SNV Germline	Chr2:29920154	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594951	rs_752129360	3 SubmittersRCV000647440 RCV002257901
NM_004304.5(ALK):c.1235G>A (p.Arg412His)	SNV Germline	Chr2:29383779	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346585193	rs_1388736375	4 SubmittersRCV000647434 RCV002360611 RCV003156274
NM_004304.5(ALK):c.409C>G (p.Arg137Gly)	SNV Germline	Chr2:29920251	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590105	rs_757382067	2 SubmittersRCV000647387 RCV004948533
NM_004304.5(ALK):c.357G>T (p.Glu119Asp)	SNV Germline	Chr2:29920303	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594995	rs_758250431	5 SubmittersRCV000647455 RCV003153787 RCV004025737 RCV004768506
NM_004304.5(ALK):c.2275G>A (p.Val759Met)	SNV Germline	Chr2:29239760	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594370	rs_199691702	5 SubmittersRCV000647399 RCV002449060 RCV003117453
NM_004304.5(ALK):c.1911C>T (p.Thr637=)	SNV Germline	Chr2:29275403	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425619483	rs_1553402750	2 SubmittersRCV000647475 RCV002406431
NM_004304.5(ALK):c.3210G>A (p.Gln1070=)	SNV Germline	Chr2:29223491	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594036	rs_138178848	4 SubmittersRCV000647512 RCV002307573 RCV002449064 RCV003892468
NM_004304.5(ALK):c.1246G>T (p.Ala416Ser)	SNV Germline	Chr2:29383768	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346585152	rs_775917326	4 SubmittersRCV000647462 RCV002388116 RCV005628836
NM_004304.5(ALK):c.397C>T (p.Arg133Cys)	SNV Germline	Chr2:29920263	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594982	rs_775940832	4 SubmittersRCV000647424 RCV004948535
NM_004304.5(ALK):c.1790T>C (p.Val597Ala)	SNV Germline	Chr2:29296915	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594536	rs_747000305	2 SubmittersRCV000647411 RCV005582373
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)	SNV Germline	Chr2:29296918	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594537	rs_754810505	8 SubmittersRCV000647463 RCV002406428 RCV003106011 RCV004745531
NM_004304.5(ALK):c.1044C>T (p.Ala348=)	SNV Germline	Chr2:29532025	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594776	rs_200293454	3 SubmittersRCV000647492 RCV002397272
NM_004304.5(ALK):c.919C>T (p.Pro307Ser)	SNV Germline	Chr2:29694883	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594817	rs_199790669	5 SubmittersRCV000647377 RCV003411528 RCV005338281 RCV004760675
NM_004304.5(ALK):c.843T>A (p.His281Gln)	SNV Germline	Chr2:29694959	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594837	rs_759250272	4 SubmittersRCV000647413 RCV005851577
NM_004304.5(ALK):c.692C>G (p.Thr231Arg)	SNV Germline	Chr2:29717673	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594898	rs_142120301	5 SubmittersRCV000647423 RCV002256446 RCV003317320
NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)	SNV Somatic	Chr2:29222347	Pathogenic	Neuroblastoma	No Assertion Criteria Provided	CA346462880	rs_1057519698	1 SubmittersRCV000656371
NM_000135.4(FANCA):c.4261-2A>C	SNV Germline	Chr16:89738710	Pathogenic	Fanconi anemia complementation group A Neuroblastoma Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA286613931	rs_915983602	5 SubmittersRCV000656368 RCV000656370 RCV001855345
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)	SNV Unknown	Chr16:89764940	Conflicting classifications of pathogenicity	Fanconi anemia complementation group A Neuroblastoma	No Assertion Criteria Provided	CA397438141	rs_1216426444	1 SubmittersRCV000656367 RCV000656369
NM_001365951.3(KIF1B):c.2675+3A>G	SNV Germline	Chr1:10324898	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA581577	rs_200684032	5 SubmittersRCV000691393 RCV003238178 RCV004025086 RCV005049658
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)	SNV Germline	Chr2:29197587	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593702	rs_753763148	4 SubmittersRCV000686469 RCV001021707 RCV004721549
NM_004304.5(ALK):c.2204+4C>T	SNV Germline	Chr2:29251101	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594415	rs_201806531	2 SubmittersRCV000696696 RCV004629303
NM_004304.5(ALK):c.1757C>T (p.Ala586Val)	SNV Germline	Chr2:29296948	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44642925	rs_1046338903	3 SubmittersRCV000691667 RCV005348190
NM_004304.5(ALK):c.1529G>A (p.Arg510Gln)	SNV Germline	Chr2:29320768	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594629	rs_776351932	2 SubmittersRCV000689840 RCV004026341
NM_004304.5(ALK):c.760C>T (p.Pro254Ser)	SNV Germline	Chr2:29717605	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594879	rs_774815140	3 SubmittersRCV000702200 RCV002307602 RCV004948620
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg)	SNV Germline	Chr2:29232313	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594252	rs_148001139	5 SubmittersRCV000706675 RCV003238195 RCV004949876
NM_004304.5(ALK):c.2515A>G (p.Ile839Val)	SNV Germline	Chr2:29232421	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346471987	rs_1371180882	3 SubmittersRCV000698411 RCV005582402 RCV005235468
NM_004304.5(ALK):c.2497G>T (p.Gly833Ter)	SNV Germline	Chr2:29232439	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44638401	rs_74360487	3 SubmittersRCV000693126 RCV003892545 RCV005338313
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)	SNV Germline	Chr2:29318369	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594597	rs_758494304	3 SubmittersRCV000703520 RCV000761066 RCV004948625
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)	SNV Germline	Chr2:29717646	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594888	rs_550608288	4 SubmittersRCV000694546 RCV002369875
NM_004304.5(ALK):c.874C>T (p.Arg292Cys)	SNV Germline	Chr2:29694928	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594831	rs_201750304	5 SubmittersRCV000699607 RCV003489823 RCV005338323
NM_004304.5(ALK):c.470C>T (p.Pro157Leu)	SNV Germline	Chr2:29920190	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594961	rs_775385954	5 SubmittersRCV000690874 RCV002255161 RCV003313133
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)	SNV Germline	Chr2:29193839	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593609	rs_55782189	3 SubmittersRCV000694794 RCV001797129 RCV004948601
NM_004304.5(ALK):c.4164G>A (p.Gln1388=)	SNV Germline	Chr2:29196770	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593652	rs_200902932	2 SubmittersRCV000687359 RCV004948572
NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)	SNV Germline	Chr2:29227037	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346467950	rs_1558626238	2 SubmittersRCV000700224 RCV005851591
NM_004304.5(ALK):c.2548G>C (p.Gly850Arg)	SNV Germline	Chr2:29232388	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44638296	rs_200563480	3 SubmittersRCV000686335 RCV005338305
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)	SNV Germline	Chr2:29251115	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594416	rs_768366852	4 SubmittersRCV000699154 RCV000761178 RCV005582405
NM_004304.5(ALK):c.1413C>T (p.Cys471=)	SNV Germline	Chr2:29328351	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594667	rs_770707805	2 SubmittersRCV000686610 RCV004948570
NM_004304.5(ALK):c.1042G>A (p.Ala348Thr)	SNV Germline	Chr2:29532027	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594778	rs_763611527	3 SubmittersRCV000687580 RCV004948577
NM_004304.5(ALK):c.833C>T (p.Pro278Leu)	SNV Germline	Chr2:29694969	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594839	rs_199703254	3 SubmittersRCV000704714 RCV004949871
NM_004304.5(ALK):c.95C>T (p.Pro32Leu)	SNV Germline	Chr2:29920565	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA45004786	rs_759748510	2 SubmittersRCV000703099 RCV004948623
NM_004304.5(ALK):c.49G>A (p.Ala17Thr)	SNV Germline	Chr2:29920611	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595057	rs_369196372	2 SubmittersRCV000698821 RCV005338321
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)	SNV Germline	Chr4:41745887	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Condition: not provided Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901400	rs_769663483	4 SubmittersRCV000698405 RCV001018142 RCV003238806 RCV005034312
NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter)	SNV Germline	Chr19:10986368	Likely pathogenic	Neuroblastoma	Criteria Provided Single Submitter	CA404056292	rs_1469271544	1 SubmittersRCV000722032
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)	SNV Germline	Chr9:95508307	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5139065	rs_778460384	5 SubmittersRCV000761070 RCV000828033 RCV001202675 RCV002255517
NM_004304.5(ALK):c.2633-3C>T	SNV Germline	Chr2:29229069	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma ALK-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594225	rs_200341945	5 SubmittersRCV000800831 RCV001775060 RCV003975309 RCV004629320 RCV004777860
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	SNV Germline	Chr1:10258524	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Neuroblastoma Pheochromocytoma not specified	Criteria Provided Conflicting Classifications	CA580653	rs_761343609	4 SubmittersRCV000795601 RCV001097598 RCV002291698 RCV004027530
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys)	SNV Germline	Chr2:29193455	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593525	rs_763403897	3 SubmittersRCV000824360 RCV002508270 RCV004950013
NM_004304.5(ALK):c.4459T>C (p.Ser1487Pro)	SNV Germline	Chr2:29193628	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593568	rs_762072069	3 SubmittersRCV000804122 RCV002332637 RCV004723213
NM_004304.5(ALK):c.4307G>A (p.Arg1436His)	SNV Germline	Chr2:29193780	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593600	rs_544926207	3 SubmittersRCV000816029 RCV002259028
NM_004304.5(ALK):c.4261G>A (p.Val1421Ile)	SNV Germline	Chr2:29193826	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593607	rs_774358799	2 SubmittersRCV000800539 RCV004028030
NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro)	SNV Germline	Chr2:29193876	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593621	rs_377129811	4 SubmittersRCV000799861 RCV003442083 RCV004949926
NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter)	SNV Germline	Chr2:29207171	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346468431	rs_1573098889	3 SubmittersRCV000810265 RCV003229865 RCV005582437
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)	SNV Germline	Chr2:29207267	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593740	rs_761459938	4 SubmittersRCV000821604 RCV002363166 RCV003225131
NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)	SNV Germline	Chr2:29225557	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346467083	rs_781515382	3 SubmittersRCV000814225 RCV002319588
NM_004304.5(ALK):c.2845G>A (p.Glu949Lys)	SNV Germline	Chr2:29227643	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594162	rs_774004991	4 SubmittersRCV000816876 RCV004768694 RCV004949991
NM_004304.5(ALK):c.2503C>T (p.Pro835Ser)	SNV Germline	Chr2:29232433	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594281	rs_763771560	4 SubmittersRCV000809542 RCV002453826 RCV004723222
NM_004304.5(ALK):c.2040A>G (p.Thr680=)	SNV Germline	Chr2:29275100	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594461	rs_748335936	2 SubmittersRCV000811153 RCV003166299
NM_004304.5(ALK):c.1837G>A (p.Ala613Thr)	SNV Germline	Chr2:29275477	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594509	rs_61744521	4 SubmittersRCV000811023 RCV003153851 RCV004745604 RCV005348226
NM_004304.5(ALK):c.1804G>A (p.Asp602Asn)	SNV Germline	Chr2:29296901	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346465836	rs_1165866210	2 SubmittersRCV000792899 RCV005582426
NM_004304.5(ALK):c.1564A>T (p.Ser522Cys)	SNV Germline	Chr2:29318387	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346471368	rs_1573223126	2 SubmittersRCV000792548 RCV005348213
NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)	SNV Germline	Chr2:29320850	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346472608	rs_1453170969	2 SubmittersRCV000806750 RCV002390612
NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)	SNV Germline	Chr2:29383795	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594719	rs_765139446	2 SubmittersRCV000810248 RCV002363090
NM_004304.5(ALK):c.1045G>A (p.Val349Ile)	SNV Germline	Chr2:29532024	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594775	rs_370848188	4 SubmittersRCV000795099 RCV002281132 RCV005338352
NM_004304.5(ALK):c.931C>A (p.Arg311Ser)	SNV Germline	Chr2:29694871	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594811	rs_149837139	2 SubmittersRCV000798675 RCV005338360
NM_004304.5(ALK):c.819G>T (p.Glu273Asp)	SNV Germline	Chr2:29694983	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594843	rs_758537157	5 SubmittersRCV000801283 RCV002424849 RCV005056568
NM_004304.5(ALK):c.540A>C (p.Gln180His)	SNV Germline	Chr2:29920120	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589837	rs_1572502948	2 SubmittersRCV000818059 RCV006406760
NM_004304.5(ALK):c.249C>T (p.Gly83=)	SNV Germline	Chr2:29920411	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425626960	rs_1466800086	2 SubmittersRCV000796370 RCV005348215
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	SNV Germline	Chr4:41745820	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901389	rs_762234006	4 SubmittersRCV002233854 RCV002370071 RCV003130042 RCV003472339
NM_004304.5(ALK):c.1154+1G>A	SNV Germline	Chr2:29531914	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594757	rs_766100418	4 SubmittersRCV000802724 RCV003317373 RCV005582435
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)	SNV Germline	Chr1:10334529	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA581650	rs_749154726	6 SubmittersRCV001098680 RCV001172600 RCV001429972 RCV004027697 RCV004546572
NM_004304.5(ALK):c.4809T>C (p.His1603=)	SNV Germline	Chr2:29193278	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593474	rs_758502850	3 SubmittersRCV000870214 RCV002336819
NM_004304.5(ALK):c.4194G>A (p.Pro1398=)	SNV Germline	Chr2:29193893	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593629	rs_201653228	3 SubmittersRCV000864429 RCV003892804 RCV005338410
NM_004304.5(ALK):c.3348C>A (p.Ile1116=)	SNV Germline	Chr2:29223353	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594003	rs_374587233	3 SubmittersRCV000864385 RCV002319966 RCV004768723
NM_004304.5(ALK):c.1547-5C>T	SNV Germline	Chr2:29318409	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594614	rs_764739691	2 SubmittersRCV000868367 RCV005851636
NM_004304.5(ALK):c.3186G>A (p.Lys1062=)	SNV Germline	Chr2:29223515	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425435208	rs_1374146241	2 SubmittersRCV001404109 RCV004950029
NM_004304.5(ALK):c.2802C>T (p.Gly934=)	SNV Germline	Chr2:29228897	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594194	rs_751581475	2 SubmittersRCV000871297 RCV005582464
NM_004304.5(ALK):c.2781G>T (p.Gly927=)	SNV Germline	Chr2:29228918	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA425436254	rs_1264537420	3 SubmittersRCV001506598 RCV003169183 RCV004721665
NM_004304.5(ALK):c.2736G>A (p.Lys912=)	SNV Germline	Chr2:29228963	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425436407	rs_1489025810	3 SubmittersRCV000876449 RCV001497944 RCV005338442
NM_004304.5(ALK):c.3939-5C>T	SNV Germline	Chr2:29197681	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA915943707	rs_1573084845	2 SubmittersRCV000877092 RCV001021474
NM_004304.5(ALK):c.2898C>T (p.Tyr966=)	SNV Germline	Chr2:29227590	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA44634641	rs_113303272	3 SubmittersRCV000951664 RCV006406792 RCV005865436
NM_004304.5(ALK):c.2391G>A (p.Glu797=)	SNV Germline	Chr2:29233661	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44639252	rs_372037531	3 SubmittersRCV000946088 RCV002258070
NM_004304.5(ALK):c.4194G>C (p.Pro1398=)	SNV Germline	Chr2:29193893	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425618931	rs_201653228	2 SubmittersRCV000933271 RCV006406786
NM_004304.5(ALK):c.2633-5C>G	SNV Germline	Chr2:29229071	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594227	rs_773644242	2 SubmittersRCV000932699 RCV005348254
NM_004304.5(ALK):c.3360G>A (p.Arg1120=)	SNV Germline	Chr2:29222607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593976	rs_747985440	2 SubmittersRCV001020086 RCV003633555
NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)	SNV Germline	Chr2:29223370	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1594008	rs_752052590	3 SubmittersRCV001020010 RCV001039956
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)	SNV Germline/somatic	Chr17:7675157	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA397842190	rs_587782705	4 SubmittersRCV001022693 RCV001383776 RCV002290546 RCV006254185
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)	SNV Germline	Chr1:10295759	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2A1	Criteria Provided Conflicting Classifications	CA581071	rs_139764209	3 SubmittersRCV001045927 RCV004031417 RCV005047235
NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)	SNV Germline	Chr2:29193235	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346460008	rs_1668918068	4 SubmittersRCV001063753 RCV002339318 RCV005243462
NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)	SNV Germline	Chr2:29193301	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593482	rs_748822593	2 SubmittersRCV001041589 RCV004950148
NM_004304.5(ALK):c.4694A>G (p.Asn1565Ser)	SNV Germline	Chr2:29193393	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346460445	rs_1208409389	2 SubmittersRCV001041580 RCV005582497
NM_004304.5(ALK):c.4690G>A (p.Ala1564Thr)	SNV Germline	Chr2:29193397	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44634750	rs_1019065457	2 SubmittersRCV001063049 RCV005582522
NM_004304.5(ALK):c.4594A>G (p.Asn1532Asp)	SNV Germline	Chr2:29193493	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593536	rs_563126725	2 SubmittersRCV001051233 RCV005338535
NM_004304.5(ALK):c.4589G>A (p.Arg1530Lys)	SNV Germline	Chr2:29193498	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44634826	rs_141242925	2 SubmittersRCV001066091 RCV005348297
NM_004304.5(ALK):c.4411G>A (p.Val1471Met)	SNV Germline	Chr2:29193676	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593577	rs_201759867	2 SubmittersRCV001071336 RCV002327371
NM_004304.5(ALK):c.4367C>T (p.Pro1456Leu)	SNV Germline	Chr2:29193720	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44635112	rs_944804641	3 SubmittersRCV001046378 RCV004783889 RCV005582502
NM_004304.5(ALK):c.3179G>A (p.Arg1060His)	SNV Germline	Chr2:29223522	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594040	rs_769322016	3 SubmittersRCV001051346 RCV003442174 RCV004950175
NM_004304.5(ALK):c.1651C>T (p.Arg551Ter)	SNV Germline	Chr2:29297054	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346466707	rs_1172956542	3 SubmittersRCV001065371 RCV005056848 RCV005582525
NM_004304.5(ALK):c.1286C>T (p.Thr429Ile)	SNV Germline	Chr2:29328478	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594688	rs_775129242	2 SubmittersRCV001041447 RCV005851675
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr)	SNV Germline	Chr2:29531955	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594764	rs_753549939	4 SubmittersRCV001044327 RCV001356602 RCV005582500
NM_004304.5(ALK):c.904G>C (p.Asp302His)	SNV Germline	Chr2:29694898	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346586902	rs_1275855734	3 SubmittersRCV001057288 RCV005348291 RCV005648081
NM_004304.5(ALK):c.709T>C (p.Ser237Pro)	SNV Germline	Chr2:29717656	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594889	rs_757916299	3 SubmittersRCV001068664 RCV002255619
NM_004304.5(ALK):c.398G>A (p.Arg133His)	SNV Germline	Chr2:29920262	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594981	rs_768229646	3 SubmittersRCV001058170 RCV002355053
NM_004304.5(ALK):c.362G>A (p.Arg121Gln)	SNV Germline	Chr2:29920298	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590188	rs_779147984	2 SubmittersRCV001035741 RCV002460124
NM_004304.5(ALK):c.80A>G (p.Gln27Arg)	SNV Germline	Chr2:29920580	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595051	rs_752501243	2 SubmittersRCV001035163 RCV005582494
NM_004304.5(ALK):c.35T>C (p.Leu12Pro)	SNV Germline	Chr2:29920625	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590809	rs_1165737526	2 SubmittersRCV001046255 RCV004031428
NM_004304.5(ALK):c.3359+1G>T	SNV Germline	Chr2:29223341	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346464574	rs_1669858309	2 SubmittersRCV001041307 RCV002320250
NM_004304.5(ALK):c.788-5T>C	SNV Germline	Chr2:29695019	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594851	rs_749234736	3 SubmittersRCV001071067 RCV005348305 RCV005628875
NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)	SNV Germline	Chr1:10256299	Conflicting classifications of pathogenicity	Neuroblastoma not specified Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA580625	rs_752674254	3 SubmittersRCV001097597 RCV004032027 RCV006465359
NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)	SNV Germline	Chr1:10258573	Conflicting classifications of pathogenicity	Neuroblastoma not specified	Criteria Provided Conflicting Classifications	CA580659	rs_769781641	2 SubmittersRCV001097599 RCV004032028
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)	SNV Germline	Chr1:10276361	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA580861	rs_141637645	5 SubmittersRCV001097982 RCV002067747 RCV004032034 RCV005232124
NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)	SNV Germline	Chr1:10282475	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA580951	rs_375389310	3 SubmittersRCV001099951 RCV002554949 RCV004032055
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)	SNV Germline	Chr1:10337085	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA581725	rs_754121148	3 SubmittersRCV001100481 RCV001422392 RCV004032065
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)	SNV Germline	Chr1:10347812	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA581896	rs_746980680	4 SubmittersRCV001102440 RCV002069711 RCV003425921 RCV004032087
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)	SNV Germline	Chr1:10361803	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA582026	rs_754234374	4 SubmittersRCV001098767 RCV001856337 RCV004032043 RCV005047305
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)	SNV Germline	Chr1:10365440	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA582121	rs_375130478	3 SubmittersRCV001098769 RCV001345974 RCV004032044
NM_001365951.3(KIF1B):c.*2114C>G	SNV Germline	Chr1:10378701	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA17858973	rs_574859747	2 SubmittersRCV001097225 RCV003425919
NM_001365951.3(KIF1B):c.883-15C>T	SNV Germline	Chr1:10275413	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA1139655940	rs_1397719362	2 SubmittersRCV001097981 RCV003744730
NM_004304.5(ALK):c.1908C>G (p.Leu636=)	SNV Germline	Chr2:29275406	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425619491	rs_1268649558	3 SubmittersRCV001143781 RCV002411647
NM_004304.5(ALK):c.1890C>T (p.Ile630=)	SNV Germline	Chr2:29275424	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425619510	rs_1278070199	3 SubmittersRCV001143782 RCV004950300
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)	SNV Germline	Chr2:29296985	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346466341	rs_762358335	3 SubmittersRCV001143783 RCV006406842
NM_004304.5(ALK):c.1306G>A (p.Ala436Thr)	SNV Germline	Chr2:29328458	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594686	rs_745772939	4 SubmittersRCV001137221 RCV005348330
NM_004304.5(ALK):c.660C>T (p.Phe220=)	SNV Germline	Chr2:29920000	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425524631	rs_1667944556	3 SubmittersRCV001140248 RCV003163310
NM_004304.5(ALK):c.615C>A (p.Ser205=)	SNV Germline	Chr2:29920045	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA45004744	rs_567498111	3 SubmittersRCV001142088 RCV002355123
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	SNV Germline	Chr4:41746011	Conflicting classifications of pathogenicity	Congenital central hypoventilation Neuroblastoma, susceptibility to, 2 Haddad syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA95828475	rs_764470906	4 SubmittersRCV001147071 RCV001147072 RCV001430876 RCV001811674 RCV002379658
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)	SNV Germline	Chr1:10361818	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA582028	rs_757899517	3 SubmittersRCV001217970 RCV004034052 RCV005049796
NM_004304.5(ALK):c.661G>A (p.Gly221Arg)	SNV Germline	Chr2:29919999	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589589	rs_199584443	2 SubmittersRCV001219707 RCV006406860
NM_004304.5(ALK):c.85G>A (p.Ala29Thr)	SNV Germline	Chr2:29920575	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590721	rs_1326321652	2 SubmittersRCV001220993 RCV004951349
NM_004304.5(ALK):c.74C>T (p.Thr25Ile)	SNV Germline	Chr2:29920586	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595054	rs_753812499	4 SubmittersRCV001220623 RCV006406861
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)	SNV Germline	Chr4:41746103	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome PHOX2B-related disorder Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901465	rs_759792321	4 SubmittersRCV001219764 RCV002365993 RCV004753237 RCV004570509
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)	SNV Germline	Chr1:10261933	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA580688	rs_776533873	4 SubmittersRCV001213472 RCV003425995 RCV004033891 RCV005029774
NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)	SNV Germline	Chr2:29214071	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593812	rs_752728718	2 SubmittersRCV001213748 RCV002451465
NM_004304.5(ALK):c.2011C>A (p.Pro671Thr)	SNV Germline	Chr2:29275129	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44665418	rs_145780832	3 SubmittersRCV001208852 RCV005340669
NM_004304.5(ALK):c.1561C>T (p.Leu521Phe)	SNV Germline	Chr2:29318390	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594608	rs_772274018	2 SubmittersRCV001212271 RCV006406854
NM_004304.5(ALK):c.1500A>C (p.Gln500His)	SNV Germline	Chr2:29320797	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594638	rs_2293564	2 SubmittersRCV001213323 RCV006406856
NM_004304.5(ALK):c.595G>T (p.Gly199Cys)	SNV Germline	Chr2:29920065	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594936	rs_747517546	2 SubmittersRCV001207044 RCV002356886
NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)	SNV Germline	Chr2:29193747	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593595	rs_554599505	2 SubmittersRCV001228482 RCV004032636
NM_004304.5(ALK):c.3135G>A (p.Val1045=)	SNV Germline	Chr2:29225498	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA44633205	rs_371735276	3 SubmittersRCV001229702 RCV002322107 RCV003238850
NM_004304.5(ALK):c.1760A>G (p.Tyr587Cys)	SNV Germline	Chr2:29296945	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346466103	rs_1338200771	2 SubmittersRCV001232995 RCV002411859
NM_004304.5(ALK):c.82C>G (p.Arg28Gly)	SNV Germline	Chr2:29920578	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590726	rs_1060500231	2 SubmittersRCV001231016 RCV005348373
NM_004304.5(ALK):c.46A>G (p.Thr16Ala)	SNV Germline	Chr2:29920614	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590792	rs_1572504096	2 SubmittersRCV001225351 RCV002339607
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)	SNV Germline/somatic	Chr14:65078029	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma and paraganglioma MAX-associated Macrocephaly and Polydactyly syndrome Polydactyly-macrocephaly syndrome MAX-related disorder Condition: not provided Immature ovarian teratoma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA390035990	rs_2063106020	6 SubmittersRCV001231817 RCV003222266 RCV003595722 RCV005250156 RCV005623400 RCV006254246 RCV006254243 RCV006254244 RCV006254245
NM_004304.5(ALK):c.4633G>A (p.Val1545Ile)	SNV Germline	Chr2:29193454	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346460558	rs_1296992304	2 SubmittersRCV001246089 RCV005348396
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)	SNV Germline	Chr2:29193850	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593613	rs_560530815	3 SubmittersRCV001244651 RCV002327593
NM_004304.5(ALK):c.1726G>T (p.Glu576Ter)	SNV Germline	Chr2:29296979	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594551	rs_750740789	3 SubmittersRCV001239744 RCV005340714
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)	SNV Germline	Chr1:10374339	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA582239	rs_758879647	3 SubmittersRCV001304871 RCV004036328 RCV005050324
NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro)	SNV Germline	Chr2:29193261	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346460093	rs_1668919067	2 SubmittersRCV001304021 RCV002327664
NM_004304.5(ALK):c.3067+9G>T	SNV Germline	Chr2:29226913	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA1241092827	rs_1664016363	3 SubmittersRCV001299727 RCV005910963
NM_004304.5(ALK):c.1634G>A (p.Ser545Asn)	SNV Germline	Chr2:29318317	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594586	rs_147033307	3 SubmittersRCV001297471 RCV002259101
NM_004304.5(ALK):c.1375C>G (p.Gln459Glu)	SNV Germline	Chr2:29328389	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346474198	rs_1466204048	3 SubmittersRCV001299091 RCV003153974 RCV005851784
NM_004304.5(ALK):c.487G>A (p.Val163Met)	SNV Germline	Chr2:29920173	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589952	rs_55697431	2 SubmittersRCV001303811 RCV005851792
NM_004304.5(ALK):c.110C>T (p.Pro37Leu)	SNV Germline	Chr2:29920550	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590676	rs_1437432300	2 SubmittersRCV001309484 RCV005348431
NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys)	SNV Germline	Chr2:29193307	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593486	rs_767191161	3 SubmittersRCV001314081 RCV004951501
NM_004304.5(ALK):c.4405C>T (p.Pro1469Ser)	SNV Germline	Chr2:29193682	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593580	rs_780571098	3 SubmittersRCV001312771 RCV005340773
NM_004304.5(ALK):c.3406T>G (p.Ser1136Ala)	SNV Germline	Chr2:29222561	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346463927	rs_1669834540	3 SubmittersRCV001321553 RCV002456437 RCV004762081
NM_004304.5(ALK):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr2:29297036	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594561	rs_200364883	2 SubmittersRCV001325194 RCV005340787
NM_004304.5(ALK):c.1229G>A (p.Gly410Glu)	SNV Germline	Chr2:29383785	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594715	rs_760717114	3 SubmittersRCV001322910 RCV001786473 RCV005582695
NM_004304.5(ALK):c.1155T>C (p.Gly385=)	SNV Germline	Chr2:29383859	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594734	rs_369505500	2 SubmittersRCV001322720 RCV002357154
NM_004304.5(ALK):c.776G>C (p.Arg259Pro)	SNV Germline	Chr2:29717589	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594871	rs_138686378	2 SubmittersRCV001324567 RCV004951542
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	SNV Germline	Chr4:41745807	Pathogenic	Neuroblastoma, susceptibility to, 2	Criteria Provided Single Submitter	CA356736596	rs_1553897738	1 SubmittersRCV001334195
NM_004304.5(ALK):c.2501T>A (p.Val834Glu)	SNV Germline	Chr2:29232435	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594282	rs_750849080	2 SubmittersRCV001351857 RCV002431995
NM_004304.5(ALK):c.825G>T (p.Glu275Asp)	SNV Germline	Chr2:29694977	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44976850	rs_924625340	2 SubmittersRCV001337997 RCV005348447
NM_004304.5(ALK):c.254C>T (p.Pro85Leu)	SNV Germline	Chr2:29920406	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595018	rs_748100651	2 SubmittersRCV001347329 RCV002431978
NM_004304.5(ALK):c.208G>A (p.Asp70Asn)	SNV Germline	Chr2:29920452	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590483	rs_1365620880	3 SubmittersRCV001348066 RCV005851850
NM_004304.5(ALK):c.4566A>G (p.Ile1522Met)	SNV Germline	Chr2:29193521	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44634837	rs_902642850	2 SubmittersRCV001365135 RCV005851869
NM_004304.5(ALK):c.2738G>A (p.Trp913Ter)	SNV Germline	Chr2:29228961	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346469754	rs_1280277994	2 SubmittersRCV001372422 RCV005582747
NM_004304.5(ALK):c.1426G>A (p.Val476Met)	SNV Germline	Chr2:29320871	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346472710	rs_984951289	2 SubmittersRCV001373577 RCV002395853
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)	SNV Germline	Chr2:29531985	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587307	rs_1465809492	2 SubmittersRCV001363252 RCV002432023
NM_004304.5(ALK):c.1021A>G (p.Ser341Gly)	SNV Germline	Chr2:29532048	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594783	rs_755433685	2 SubmittersRCV001365151 RCV005340844
NM_004304.5(ALK):c.989A>G (p.Lys330Arg)	SNV Germline	Chr2:29532080	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594784	rs_781677582	4 SubmittersRCV001361166 RCV005582730
NM_004304.5(ALK):c.881C>T (p.Pro294Leu)	SNV Germline	Chr2:29694921	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346586947	rs_1678508737	2 SubmittersRCV001362037 RCV005851864
NM_004304.5(ALK):c.107C>A (p.Pro36Gln)	SNV Germline	Chr2:29920553	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA346590683	rs_773691688	3 SubmittersRCV001371085 RCV002420832 RCV003238363
NM_004304.5(ALK):c.4746C>T (p.Val1582=)	SNV Germline	Chr2:29193341	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA425619109	rs_1237752481	3 SubmittersRCV001408610 RCV003298675 RCV004774445
NM_004304.5(ALK):c.2816-5C>T	SNV Germline	Chr2:29227677	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594171	rs_532808222	2 SubmittersRCV001395725 RCV005851884
NM_004304.5(ALK):c.1096C>T (p.Leu366=)	SNV Germline	Chr2:29531973	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA425517454	rs_1450281991	4 SubmittersRCV001398373 RCV002449092 RCV003920874 RCV004783968
NM_004304.5(ALK):c.630C>G (p.Ala210=)	SNV Germline	Chr2:29920030	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA425524652	rs_1337002578	3 SubmittersRCV001418756 RCV002368312 RCV003325575
NM_004304.5(ALK):c.2727C>T (p.Ala909=)	SNV Germline	Chr2:29228972	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA425436409	rs_1236590521	3 SubmittersRCV001421690 RCV003160690 RCV004779117
NM_004304.5(ALK):c.1311G>A (p.Leu437=)	SNV Germline	Chr2:29328453	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594684	rs_757241673	3 SubmittersRCV001441854 RCV002384676 RCV003227975
NM_004304.5(ALK):c.1032C>T (p.His344=)	SNV Germline	Chr2:29532037	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA425518233	rs_2148158695	3 SubmittersRCV001444215 RCV002396026 RCV004762145
NM_004304.5(ALK):c.37C>T (p.Leu13=)	SNV Germline	Chr2:29920623	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA425628146	rs_749730757	2 SubmittersRCV001435032 RCV006258593
NM_004304.5(ALK):c.4165-5G>T	SNV Germline	Chr2:29193927	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1028814160	rs_1668958083	2 SubmittersRCV001451982 RCV005584848
NM_004304.5(ALK):c.2961C>T (p.Cys987=)	SNV Germline	Chr2:29227028	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425435998	rs_1400037080	2 SubmittersRCV001472759 RCV005340970
NM_004304.5(ALK):c.2028C>T (p.Ile676=)	SNV Germline	Chr2:29275112	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594462	rs_772973901	3 SubmittersRCV001451109 RCV002421018 RCV004770154
NM_004304.5(ALK):c.1488C>G (p.Pro496=)	SNV Germline	Chr2:29320809	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425435630	rs_1189878579	2 SubmittersRCV001463107 RCV005348520
NM_004304.5(ALK):c.1386C>T (p.Ala462=)	SNV Germline	Chr2:29328378	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425436025	rs_2148258238	2 SubmittersRCV001468119 RCV005348524
NM_004304.5(ALK):c.2769G>A (p.Gly923=)	SNV Germline	Chr2:29228930	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA44635320	rs_75434768	3 SubmittersRCV001487553 RCV002439171 RCV003442885
NM_004304.5(ALK):c.2633-5C>T	SNV Germline	Chr2:29229071	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44635430	rs_773644242	2 SubmittersRCV001500937 RCV005341006
NM_001365951.3(KIF1B):c.2115+6581G>A	SNV Germline	Chr1:10303827	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2A1	Criteria Provided Conflicting Classifications	CA581282	rs_41274460	7 SubmittersRCV001702996 RCV005396972
NM_198253.3(TERT):c.-124C>T	SNV Germline/somatic	Chr5:1295113	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 1 Condition: not provided not specified Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2 Neoplasm Sertoli-Leydig cell tumor oligodendroglioma, 1p 19q codeleted Desmoplastic small round cell tumor Malignant glioma Metastatic melanoma Medulloblastoma WNT activated Adenocarcinoma of the large intestine Medulloblastoma SHH activated Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Juvenile type testicular granulosa cell tumor Calcifying nested epithelial stromal tumor of the liver Atypical teratoid rhabdoid tumor Neuroblastoma IDH-wildtype glioblastoma Hepatosplenic T-cell lymphoma Ovarian sex cord-stromal tumor Squamous cell carcinoma of the skin Pleomorphic xanthoastrocytoma	Criteria Provided Conflicting Classifications	CA557858711	rs_1242535815	9 SubmittersRCV001728078 RCV002073409 RCV002223145 RCV003332346 RCV003470881 RCV004671424 RCV006254295 RCV006254297 RCV006254286 RCV006254288 RCV006254291 RCV006254292 RCV006254293 RCV006254294 RCV006254289 RCV006254290 RCV006254296 RCV006254298 RCV006254287 RCV006254283 RCV006254299 RCV006254300 RCV006254301 RCV006254284 RCV006254285
NM_001365951.3(KIF1B):c.2115+7081C>T	SNV Germline	Chr1:10304327	Conflicting classifications of pathogenicity	Condition: not provided KIF1B-related disorder not specified Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA581375	rs_376558549	4 SubmittersRCV001812605 RCV003968560 RCV003388047 RCV004785315
NM_004304.5(ALK):c.536G>A (p.Arg179His)	SNV Germline	Chr2:29920124	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589846	rs_1316424431	2 SubmittersRCV002002123 RCV002344083
NM_004304.5(ALK):c.3358C>A (p.Arg1120=)	SNV Germline	Chr2:29223343	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425435000	rs_774951734	2 SubmittersRCV001997848 RCV002324415
NM_004304.5(ALK):c.1833G>A (p.Met611Ile)	SNV Germline	Chr2:29275481	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346480023	rs_1302907379	2 SubmittersRCV001978701 RCV002407132
NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser)	SNV Germline	Chr2:29193283	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593477	rs_747161831	2 SubmittersRCV001992943 RCV005343197
NM_004304.5(ALK):c.875G>T (p.Arg292Leu)	SNV Germline	Chr2:29694927	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44976846	rs_149145987	2 SubmittersRCV001925631 RCV005343144
NM_004304.5(ALK):c.724A>G (p.Thr242Ala)	SNV Germline	Chr2:29717641	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587743	rs_2148307303	2 SubmittersRCV001993725 RCV004044658
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)	SNV Germline	Chr1:10365178	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Neuroblastoma, susceptibility to, 1 Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2A1	Criteria Provided Conflicting Classifications	CA582080	rs_367778973	4 SubmittersRCV001940667 RCV004044011 RCV004785381 RCV005050461
NM_004304.5(ALK):c.3420C>A (p.Asn1140Lys)	SNV Germline	Chr2:29222547	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346463783	rs_150785816	2 SubmittersRCV001992766 RCV005854125
NM_004304.5(ALK):c.1689C>G (p.Asn563Lys)	SNV Germline	Chr2:29297016	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346466521	rs_565743321	2 SubmittersRCV001908875 RCV005343123
NM_004304.5(ALK):c.874C>G (p.Arg292Gly)	SNV Germline	Chr2:29694928	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594832	rs_201750304	2 SubmittersRCV001982842 RCV006407039
NM_004304.5(ALK):c.1134G>A (p.Met378Ile)	SNV Germline	Chr2:29531935	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA44957085	rs_989538225	4 SubmittersRCV001898216 RCV004762221 RCV005584940
NM_004304.5(ALK):c.1262C>T (p.Ala421Val)	SNV Germline	Chr2:29383752	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346585081	rs_1267142388	2 SubmittersRCV001908127 RCV005341111
NM_004304.5(ALK):c.1912+1G>A	SNV Germline	Chr2:29275401	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346479848	rs_1430369916	2 SubmittersRCV001913271 RCV006407008
NM_004304.5(ALK):c.3743+1G>C	SNV Germline	Chr2:29213983	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346471043	rs_1333697872	2 SubmittersRCV002005582 RCV005350826
NM_004304.5(ALK):c.4584C>A (p.His1528Gln)	SNV Germline	Chr2:29193503	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer	Criteria Provided Conflicting Classifications	CA346460677	rs_746470148	2 SubmittersRCV001948481 RCV003154223
NM_004304.5(ALK):c.1542C>A (p.His514Gln)	SNV Germline	Chr2:29320755	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346472186	rs_2148250838	2 SubmittersRCV002026267 RCV003161229
NM_004304.5(ALK):c.1060C>G (p.His354Asp)	SNV Germline	Chr2:29532009	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587361	rs_1490289892	2 SubmittersRCV002039699 RCV002406918
NM_004304.5(ALK):c.415A>G (p.Lys139Glu)	SNV Germline	Chr2:29920245	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594974	rs_749530596	2 SubmittersRCV001923469 RCV002331448
NM_004304.5(ALK):c.658T>C (p.Phe220Leu)	SNV Germline	Chr2:29920002	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589596	rs_1484797934	3 SubmittersRCV001985216 RCV005585021
NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)	SNV Germline	Chr2:29193789	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346462737	rs_1668950412	2 SubmittersRCV001890129 RCV002331393
NM_003924.4(PHOX2B):c.241+1G>A	SNV Germline	Chr4:41748369	Likely pathogenic	Haddad syndrome Neuroblastoma, susceptibility to, 2 PHOX2B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA356740736	rs_2153113036	3 SubmittersRCV002048499 RCV003475293 RCV003893084
NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)	SNV Germline	Chr2:29275449	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346479952	rs_1665516730	2 SubmittersRCV002010032 RCV003303585
NM_004304.5(ALK):c.985T>G (p.Ser329Ala)	SNV Germline	Chr2:29532084	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587524	rs_1673136181	2 SubmittersRCV001960911 RCV005350806
NM_004304.5(ALK):c.3646-13T>C	SNV Germline	Chr2:29214094	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2573134527	rs_2148159628	2 SubmittersRCV002140879 RCV002256935
NM_004304.5(ALK):c.2488-5G>A	SNV Germline	Chr2:29232453	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2573134546	rs_2148183488	2 SubmittersRCV002159243 RCV006407104
NM_004304.5(ALK):c.2895G>A (p.Leu965=)	SNV Germline	Chr2:29227593	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594152	rs_528928041	3 SubmittersRCV002176718 RCV003950876 RCV005350890
NM_004304.5(ALK):c.3744-5C>T	SNV Germline	Chr2:29209883	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593788	rs_750800690	2 SubmittersRCV002209132 RCV002346382
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)	SNV Germline	Chr2:29193616	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593564	rs_775805709	2 SubmittersRCV002328487 RCV003464464
NM_004304.5(ALK):c.4645A>G (p.Arg1549Gly)	SNV Germline	Chr2:29193442	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346460535	rs_773780435	2 SubmittersRCV002330442 RCV003096401
NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)	SNV Germline	Chr2:29193280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346460169	rs_780454793	2 SubmittersRCV002337917 RCV003102634
NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)	SNV Germline	Chr1:10374930	Conflicting classifications of pathogenicity	Ovarian cancer not specified Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2A1	Criteria Provided Conflicting Classifications	CA582279	rs_753477704	3 SubmittersRCV003154068 RCV004050921 RCV005050566
NM_004304.5(ALK):c.970A>G (p.Asn324Asp)	SNV Germline	Chr2:29532099	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA44957101	rs_781771386	2 SubmittersRCV002376683 RCV003633650
NM_004304.5(ALK):c.1879A>G (p.Asn627Asp)	SNV Germline	Chr2:29275435	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346479924	rs_1665516024	2 SubmittersRCV002415254 RCV003774537
NM_004304.5(ALK):c.1829A>G (p.Gln610Arg)	SNV Germline	Chr2:29275485	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346480033	rs_2148215487	2 SubmittersRCV002410491 RCV003097282
NM_004304.5(ALK):c.2703C>G (p.Thr901=)	SNV Germline	Chr2:29228996	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1594215	rs_375296866	2 SubmittersRCV002429020 RCV003633666
NM_004304.5(ALK):c.2874C>T (p.Phe958=)	SNV Germline	Chr2:29227614	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA425436132	rs_1226555490	2 SubmittersRCV002437709 RCV003102810
NM_004304.5(ALK):c.269C>T (p.Ser90Leu)	SNV Germline	Chr2:29920391	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595013	rs_34617074	3 SubmittersRCV003063272 RCV004948954 RCV004775285
NM_004304.5(ALK):c.1030C>A (p.His344Asn)	SNV Germline	Chr2:29532039	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587418	rs_1286011012	2 SubmittersRCV003073784 RCV006425017
NM_004304.5(ALK):c.1552G>T (p.Ala518Ser)	SNV Germline	Chr2:29318399	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346471452	rs_1666897900	2 SubmittersRCV002628125 RCV005854446
NM_004304.5(ALK):c.1689C>A (p.Asn563Lys)	SNV Germline	Chr2:29297016	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594559	rs_565743321	3 SubmittersRCV002569777 RCV005585156
NM_004304.5(ALK):c.1039C>A (p.Leu347Met)	SNV Germline	Chr2:29532030	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587401	rs_747355737	2 SubmittersRCV002649701 RCV004066615
NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)	SNV Germline	Chr2:29233610	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346472200	rs_2148184506	2 SubmittersRCV002649719 RCV005585193
NM_004304.5(ALK):c.1069C>A (p.Pro357Thr)	SNV Germline	Chr2:29532000	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587341	rs_2148158612	3 SubmittersRCV002696204 RCV004774719 RCV005854304
NM_004304.5(ALK):c.608G>A (p.Arg203Lys)	SNV Germline	Chr2:29920052	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589698	rs_2148442883	2 SubmittersRCV002765391 RCV005343484
NM_004304.5(ALK):c.926C>A (p.Ala309Glu)	SNV Germline	Chr2:29694876	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594813	rs_748017801	4 SubmittersRCV002801358 RCV004064865
NM_004304.5(ALK):c.481G>A (p.Ala161Thr)	SNV Germline	Chr2:29920179	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589963	rs_2465865784	2 SubmittersRCV002914084 RCV006424986
NM_004304.5(ALK):c.1613C>A (p.Thr538Lys)	SNV Germline	Chr2:29318338	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346471012	rs_775302364	2 SubmittersRCV002927937 RCV005343531
NM_004304.5(ALK):c.4493A>G (p.Lys1498Arg)	SNV Germline	Chr2:29193594	Conflicting classifications of pathogenicity	Ovarian cancer Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346461245	rs_1475116674	2 SubmittersRCV003154772 RCV005060991
NM_004304.5(ALK):c.1441A>T (p.Asn481Tyr)	SNV Germline	Chr2:29320856	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA346472648	rs_2465435723	2 SubmittersRCV003172212 RCV006473854
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)	SNV Unknown	Chr4:41746040	Likely pathogenic	Neuroblastoma, susceptibility to, 2	Criteria Provided Single Submitter	CA356737303	rs_2552096830	1 SubmittersRCV003472440
NM_001365951.3(KIF1B):c.184-6T>G	SNV Germline	Chr1:10258487	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA580647	rs_761723354	2 SubmittersRCV003582456 RCV005022015
NM_004304.5(ALK):c.58G>A (p.Gly20Ser)	SNV Germline	Chr2:29920602	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590773	rs_1667970548	3 SubmittersRCV003518626 RCV004823167 RCV005854519
NM_004304.5(ALK):c.3414G>A (p.Met1138Ile)	SNV Germline	Chr2:29222553	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593961	rs_773241951	2 SubmittersRCV003518743 RCV004950438
NM_004304.5(ALK):c.4074-5T>C	SNV Germline	Chr2:29196865	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1241074521	rs_1669035909	2 SubmittersRCV003517035 RCV004634296
NM_004304.5(ALK):c.1062C>A (p.His354Gln)	SNV Germline	Chr2:29532007	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346587355	rs_749474186	2 SubmittersRCV003634717 RCV005854540
NM_004304.5(ALK):c.530G>A (p.Trp177Ter)	SNV Germline	Chr2:29920130	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346589861	rs_2148443048	2 SubmittersRCV003832393 RCV005856575
NM_004304.5(ALK):c.1747C>A (p.His583Asn)	SNV Germline	Chr2:29296958	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346466176	rs_1666202984	3 SubmittersRCV003868472 RCV005856588
NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)	SNV Germline	Chr2:29193480	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346460610	rs_2465873305	3 SubmittersRCV003870386 RCV006428140
NM_004304.5(ALK):c.47C>T (p.Thr16Met)	SNV Germline	Chr2:29920613	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595059	rs_542229113	2 SubmittersRCV003876874 RCV004950754
NM_004304.5(ALK):c.786T>C (p.Tyr262=)	SNV Germline	Chr2:29717579	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA425521653	rs_1345881154	2 SubmittersRCV004516692 RCV005100472
NM_004304.5(ALK):c.1930A>G (p.Ile644Val)	SNV Germline	Chr2:29275210	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV004635653 RCV005102226
NM_004304.5(ALK):c.4078C>A (p.Arg1360=)	SNV Germline	Chr2:29196856	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV004949636 RCV006565691
NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)	SNV Germline	Chr1:10360929	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1 Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications			3 SubmittersRCV004939112 RCV005040858 RCV005110411
NM_004304.5(ALK):c.1833G>C (p.Met611Ile)	SNV Germline	Chr2:29275481	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005064604 RCV005587612
NM_004304.5(ALK):c.4502G>A (p.Ser1501Asn)	SNV Germline	Chr2:29193585	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005079307 RCV005336076
NM_004304.5(ALK):c.4596C>A (p.Asn1532Lys)	SNV Germline	Chr2:29193491	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005124343 RCV005856676
NM_004304.5(ALK):c.922G>C (p.Gly308Arg)	SNV Germline	Chr2:29694880	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005353768 RCV006474967
NM_004304.5(ALK):c.2748G>A (p.Glu916=)	SNV Germline	Chr2:29228951	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005351251 RCV006567389
NM_001365951.3(KIF1B):c.2115+6523G>A	SNV Germline	Chr1:10303769	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2A1 Neuroblastoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005398203 RCV006264481
NM_004304.5(ALK):c.448A>G (p.Ile150Val)	SNV Germline	Chr2:29920212	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005588417 RCV006613571
NM_004304.5(ALK):c.2092C>T (p.Gln698Ter)	SNV Germline	Chr2:29251217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005855183 RCV006489970

NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)

SNV
Germline

Chr1:10324838

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2
Neuroblastoma
Malignant tumor of breast
Charcot-Marie-Tooth disease
Condition: not provided
KIF1B-related disorder
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA116990

rs_121908162

10 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001269366 RCV001173590 RCV003237410 RCV004742212 RCV004018562 RCV005394118

NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)

SNV
Germline

Chr1:10345943

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 1
Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA116993

rs_121908163

4 SubmittersRCV000004924 RCV000490400 RCV000865916 RCV004018563

NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)

SNV
Germline

Chr4:41747479

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 2
Haddad syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA117902

rs_104893855

3 SubmittersRCV000006382 RCV002227997 RCV002433444

NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)

SNV
Germline

Chr4:41747357

Pathogenic

Hirschsprung disease-ganglioneuroblastoma syndrome

No Assertion Criteria Provided

CA117905

rs_28939716

1 SubmittersRCV000006383

NM_000546.6(TP53):c.524G>A (p.Arg175His)

SNV
Germline/somatic

Chr17:7675088

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Malignant tumor of esophagus
Colorectal cancer
Ovarian neoplasm
Gastric cancer
12 conditions
Adrenocortical carcinoma, hereditary
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
TP53-related disorder
Familial cancer of breast
Astrocytoma IDH-mutant
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma SHH activated and TP53 mutant
Undifferentiated embryonal sarcoma of the liver
Neuroblastoma
IDH-wildtype glioblastoma
Small intestine adenocarcinoma

Reviewed By Expert Panel

CA000251

rs_28934578

35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507

NM_000546.6(TP53):c.1010G>A (p.Arg337His)

SNV
Germline/somatic

Chr17:7670699

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Adrenocortical carcinoma, hereditary
Gastric cancer
Neuroblastoma
Ovarian cancer
Hereditary breast ovarian cancer syndrome
12 conditions
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

28 SubmittersRCV000013178 RCV000197240 RCV000481814 RCV000128923 RCV000576817 RCV000413754 RCV000989700 RCV001375632 RCV003162248 RCV006253508 RCV006555321 RCV002307364 RCV002496338 RCV004797591

NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)

SNV
Germline/somatic

Chr12:25245351

Pathogenic

Gastric cancer
Non-small cell lung carcinoma
Ovarian neoplasm
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Neoplasm
Vascular malformation
Cardiofaciocutaneous syndrome 2
Rhabdomyosarcoma
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA135565

rs_121913530

12 SubmittersRCV000013414 RCV000038264 RCV000119790 RCV000144971 RCV000782191 RCV001851824 RCV004668726 RCV004562205 RCV004795403 RCV006253532 RCV006253531

NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)

SNV
Germline/somatic

Chr11:533875

Pathogenic/Likely pathogenic

Thyroid cancer, nonmedullary, 2
Spermatocytic seminoma
Noonan syndrome 3
Condition: not provided
Lip and oral cavity carcinoma
Epidermal nevus
Familial medullary thyroid carcinoma
Embryonal rhabdomyosarcoma
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122547

rs_28933406

6 SubmittersRCV000013434 RCV000022795 RCV000587258 RCV000681435 RCV001255683 RCV004562206 RCV006253533 RCV006253535 RCV006253534

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Megalencephaly-capillary malformation-polymicrogyria syndrome
Congenital macrodactylia
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
Gastric cancer
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
PIK3CA-related disorder
Rare combined vascular malformation
PIK3CA-Related Overgrowth Spectrum Disorders
Nasopharyngeal carcinoma
Diffuse midline glioma, H3 K27M-mutant
Cervical squamous cell carcinoma
Diffuse glioma, H3 G34 mutant
Glioma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Colorectal cancer
Adenoid cystic carcinoma
Cavernous lymphangioma
Embryonal rhabdomyosarcoma

Reviewed By Expert Panel

CA123326

rs_121913279

33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

SNV
Germline/somatic

Chr7:140753336

Conflicting classifications of pathogenicity

Carcinoma of colon
Papillary thyroid carcinoma
Astrocytoma, low-grade, somatic
Nongerminomatous germ cell tumor
Melanoma
Non-small cell lung carcinoma
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Neoplasm
Cystic epithelial invagination containing papillae lined by columnar epithelium
Colorectal cancer
Cerebral arteriovenous malformation
Malignant neoplastic disease
Nephroblastoma
Lymphangioma
Vascular malformation
Cardiovascular phenotype
RASopathy
Embryonal rhabdomyosarcoma
Spindle cell sarcoma
Dysembryoplastic neuroepithelial tumor
Pilocytic astrocytoma
Thyroid gland undifferentiated (anaplastic) carcinoma
Pleomorphic xanthoastrocytoma
Ganglioglioma
Malignant glioma
Epithelioid Glioblastoma
Malignant peripheral nerve sheath tumor
IDH-wildtype glioblastoma
Diffuse leptomeningeal glioneuronal tumor
Polymorphous low grade neuroepithelial tumor of the young
Benign metanephric tumor
Alveolar rhabdomyosarcoma
Nodular ganglioneuroblastoma
Diffuse low-grade glioma, MAPK pathway–altered
Neuroblastoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA123643

rs_113488022

21 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000067669 RCV000037936 RCV000080903 RCV000208763 RCV000430562 RCV000443448 RCV000662278 RCV001030023 RCV000860020 RCV001254874 RCV001248834 RCV002051586 RCV003458334 RCV004018627 RCV005089260 RCV005630703 RCV005630704 RCV006253613 RCV006253599 RCV004719648 RCV006253602 RCV006253603 RCV006253604 RCV005630705 RCV006253606 RCV006253607 RCV006253608 RCV006253610 RCV006253612 RCV006253601 RCV006253609 RCV006253611 RCV006253600 RCV006253605

NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)

SNV
Somatic

Chr7:140753334

Pathogenic

Thyroid cancer, nonmedullary, 2
Carcinoma of colon
Non-small cell lung carcinoma
Lung adenocarcinoma
Neoplasm
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Neuroblastoma

Criteria Provided
Single Submitter

CA123645

rs_121913364

5 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000433498 RCV005229793 RCV006253615 RCV006253614

NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)

SNV
Somatic

Chr7:140753345

Pathogenic

Lung adenocarcinoma
Neuroblastoma

No Assertion Criteria Provided

CA123649

rs_121913366

2 SubmittersRCV000015002 RCV006253616

NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)

SNV
Somatic

Chr7:140781602

Pathogenic

Non-Hodgkin lymphoma
Non-small cell lung carcinoma
Ganglioglioma
Nasopharyngeal carcinoma
Neoplasm
Neuroblastoma

Criteria Provided
Single Submitter

CA123655

rs_121913355

4 SubmittersRCV000015005 RCV000150210 RCV006253619 RCV006253618 RCV006273057 RCV006253617

NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)

SNV
Germline/somatic

Chr2:29209798

Pathogenic

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA341482

rs_113994087

10 SubmittersRCV000019709 RCV001268655 RCV002354167 RCV006253671

NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)

SNV
Germline/somatic

Chr2:29222584

Pathogenic; risk factor

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA341484

rs_113994088

4 SubmittersRCV000019710 RCV006253672

NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)

SNV
Germline

Chr2:29220776

Pathogenic

Neuroblastoma, susceptibility to, 3

Criteria Provided
Single Submitter

CA341486

rs_113994089

3 SubmittersRCV000019711

NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)

SNV
Germline

Chr2:29222407

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341488

rs_113994091

6 SubmittersRCV000019712 RCV001020341 RCV004589517

NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile)

SNV
Germline

Chr2:29223441

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA342013

rs_113994090

6 SubmittersRCV000020581 RCV000997104 RCV003153305 RCV004948136

NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)

SNV
Germline/somatic

Chr3:179210192

Pathogenic

CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
CLAPO syndrome
Abnormal cardiovascular system morphology
Segmental undergrowth associated with lymphatic malformation
Capillary malformation
Condition: not provided
Rare combined vascular malformation
Cowden syndrome
Neoplasm
Colorectal cancer
Neuroblastoma
Medulloblastoma WNT activated
IDH-wildtype glioblastoma
Immature ovarian teratoma
Colon adenocarcinoma
PIK3CA-related disorder
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA180900

rs_121913272

18 SubmittersRCV000024623 RCV000154512 RCV000201232 RCV000709694 RCV001327960 RCV001705599 RCV001526612 RCV002054475 RCV004527297 RCV003588566 RCV004668743 RCV005603590 RCV006253688 RCV006253690 RCV006253691 RCV006253692 RCV006253687 RCV005867798 RCV006253689

NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)

SNV
Germline

Chr13:32379480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Neuroblastoma
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025874

rs_80359143

17 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000505714 RCV000761134 RCV000770734 RCV001082957 RCV005357222

NM_000546.6(TP53):c.817C>T (p.Arg273Cys)

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Prostate cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Ovarian neoplasm
Multiple myeloma
Adrenocortical carcinoma, hereditary
Embryonal rhabdomyosarcoma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Astrocytoma IDH-mutant
TP53-related disorder
Adenocarcinoma of the large intestine
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma WNT activated
Primary intracranial sarcoma, DICER1-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000432

rs_121913343

28 SubmittersRCV000144665 RCV000149051 RCV000131966 RCV000205625 RCV000254692 RCV000431786 RCV000785470 RCV004595896 RCV003466889 RCV006253731 RCV006253730 RCV006253732 RCV006253733 RCV004745172 RCV006253737 RCV006253734 RCV006253736 RCV006253735

NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)

SNV
Germline/somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA345001

rs_281864719

2 SubmittersRCV000055894

NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)

SNV
Germline/somatic

Chr1:114713909

Conflicting classifications of pathogenicity

Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Vascular Tumors Including Pyogenic Granuloma
Ras Inhibitor response
RASopathy
Condition: not provided
Neoplasm
Malignant peripheral nerve sheath tumor
Alveolar rhabdomyosarcoma
Colorectal cancer
Epidermal nevus
Large congenital melanocytic nevus
Spitzoid melanoma
Embryonal rhabdomyosarcoma
Atypical teratoid rhabdoid tumor
Melanoma
Neuroblastoma

Criteria Provided
Conflicting Classifications

CA151263

rs_121913254

10 SubmittersRCV000114746 RCV000144964 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV004668769 RCV006253772 RCV006253768 RCV005603598 RCV005624317 RCV006253773 RCV006253769 RCV006253770 RCV006253771 RCV006253767

NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)

SNV
Germline

Chr2:29232359

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156608

rs_61754865

7 SubmittersRCV000119968 RCV000226467 RCV002255130 RCV003415905

NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)

SNV
Germline

Chr2:29225553

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA156617

rs_140733978

9 SubmittersRCV000119971 RCV000475908 RCV002257413 RCV002266923 RCV003952583

NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)

SNV
Germline

Chr2:29223519

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156626

rs_72852032

6 SubmittersRCV000119974 RCV000466193 RCV002257414 RCV002508194

NM_004304.5(ALK):c.4796C>A (p.Pro1599His)

SNV
Germline

Chr2:29193291

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA156647

rs_1881423

8 SubmittersRCV000119981 RCV000472979 RCV001356607 RCV002257415 RCV003935135

NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)

SNV
Germline

Chr2:29193901

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA156650

rs_201768549

8 SubmittersRCV000119982 RCV000731883 RCV001087719 RCV002257416

NM_004304.5(ALK):c.932G>A (p.Arg311His)

SNV
Germline

Chr2:29694870

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA156656

rs_150966028

10 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136

NM_004304.5(ALK):c.808T>C (p.Phe270Leu)

SNV
Germline

Chr2:29694994

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA156659

rs_143229596

5 SubmittersRCV000119985 RCV000463094 RCV003126501 RCV004948185

NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)

SNV
Germline

Chr2:29531969

Conflicting classifications of pathogenicity

not specified
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA156662

rs_144030155

7 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611 RCV004745197

NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)

SNV
Germline

Chr4:41746135

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Haddad syndrome
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2
Neuroblastoma, susceptibility to, 2
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Criteria Provided
Conflicting Classifications

CA161478

rs_587778606

6 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052 RCV005031628

NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

SNV
Germline

Chr1:10337518

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2A1
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA233110

rs_374098797

6 SubmittersRCV000143820 RCV001065481 RCV001173597 RCV003485542 RCV004019754 RCV005042280

NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)

SNV
Germline

Chr1:10361732

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA233113

rs_200561798

10 SubmittersRCV000143821 RCV001098766 RCV001080346 RCV001174215 RCV004019755

NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)

SNV
Germline

Chr1:10275444

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA270941

rs_373698346

8 SubmittersRCV000144876 RCV000167979 RCV001530983 RCV004019760 RCV005031650

NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)

SNV
Germline/somatic

Chr11:533874

Likely pathogenic

Linear nevus sebaceous syndrome
Condition: not provided
Vascular Tumors Including Pyogenic Granuloma
Noonan syndrome and Noonan-related syndrome
Salivary gland neoplasm
6 conditions
Neuroblastoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA173968

rs_121913233

8 SubmittersRCV000148033 RCV000157918 RCV000662268 RCV001813393 RCV001844808 RCV004796045 RCV006253831 RCV006273567

NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)

SNV
Germline

Chr1:10343244

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202589

rs_147318592

10 SubmittersRCV000177655 RCV000198749 RCV000373531 RCV001173612 RCV001706137

NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)

SNV
Somatic

Chr2:29209789

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279600

rs_863225285

1 SubmittersRCV000201889

NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)

SNV
Somatic

Chr2:29213992

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279621

rs_863225284

1 SubmittersRCV000201908

NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)

SNV
Somatic

Chr2:29213993

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA279597

rs_863225283

2 SubmittersRCV000201887 RCV006253887

NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)

SNV
Somatic

Chr2:29213994

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA277846

rs_281864720

2 SubmittersRCV000201924 RCV006253886

NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)

SNV
Somatic

Chr2:29214009

Likely pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279618

rs_863225282

1 SubmittersRCV000201906

NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)

SNV
Somatic

Chr2:29220829

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA279616

rs_863225281

2 SubmittersRCV000201904 RCV006253885

NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)

SNV
Somatic

Chr2:29220829

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279586

rs_863225281

1 SubmittersRCV000201882

NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)

SNV
Somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3
Neoplasm

No Assertion Criteria Provided

CA277829

rs_281864719

2 SubmittersRCV000201883 RCV006273629

NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)

SNV
Somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA277834

rs_281864719

2 SubmittersRCV000201918 RCV006253884

NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

SNV
Germline/somatic

Chr12:112450385

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 1
Cardiovascular phenotype
Neuroblastoma
Juvenile myelomonocytic leukemia
Pilocytic astrocytoma
Diffuse midline glioma, H3 K27M-mutant
Neoplasm

Criteria Provided
Conflicting Classifications

CA354979

rs_397507511

6 SubmittersRCV000210038 RCV001250211 RCV002415881 RCV006253894 RCV005251095 RCV006253893 RCV006253895 RCV006273638

NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)

SNV
Somatic

Chr8:38417331

Pathogenic

Encephalocraniocutaneous lipomatosis
Rosette-forming glioneuronal tumor
Neoplasm
Dysembryoplastic neuroepithelial tumor
Embryonal rhabdomyosarcoma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Primary intracranial sarcoma, DICER1-mutant
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA357830

rs_779707422

8 SubmittersRCV000210485 RCV000487433 RCV004668850 RCV006253901 RCV006253897 RCV006253896 RCV006253898 RCV006253900 RCV006253899

NM_004304.5(ALK):c.4608G>A (p.Glu1536=)

SNV
Germline

Chr2:29193479

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593529

rs_147241767

3 SubmittersRCV000232180 RCV002338733

NM_004304.5(ALK):c.4275G>A (p.Leu1425=)

SNV
Germline

Chr2:29193812

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593605

rs_749418931

7 SubmittersRCV000228085 RCV001566391 RCV003417825 RCV004948228

NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)

SNV
Germline

Chr2:29220752

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1593854

rs_200585833

8 SubmittersRCV000229337 RCV000573898 RCV002284382 RCV004745300

NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu)

SNV
Germline

Chr2:29223444

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594025

rs_138589984

7 SubmittersRCV000231894 RCV002256164 RCV004725109

NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)

SNV
Germline

Chr2:29239796

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594381

rs_762395127

5 SubmittersRCV000230160 RCV002429113 RCV004767185

NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)

SNV
Germline

Chr2:29251160

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594424

rs_147858673

10 SubmittersRCV000226263 RCV000507604 RCV002305468 RCV002256160 RCV003955342

NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)

SNV
Germline

Chr2:29328388

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
ALK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594674

rs_773380015

4 SubmittersRCV000231007 RCV002378996 RCV003417821 RCV004725108

NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)

SNV
Germline

Chr2:29532002

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594770

rs_773367495

4 SubmittersRCV000230394 RCV002411042 RCV004760459

NM_004304.5(ALK):c.472C>A (p.Pro158Thr)

SNV
Germline

Chr2:29920188

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594960

rs_536284304

3 SubmittersRCV000231787 RCV004948229

NM_004304.5(ALK):c.469C>T (p.Pro157Ser)

SNV
Germline

Chr2:29920191

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594963

rs_74774946

8 SubmittersRCV000229990 RCV001022915 RCV001824304 RCV004745302

NM_004304.5(ALK):c.310C>T (p.Pro104Ser)

SNV
Germline

Chr2:29920350

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595006

rs_576431612

5 SubmittersRCV000229111 RCV002307461 RCV002257559

NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)

SNV
Germline

Chr4:41745920

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2
Haddad syndrome
Condition: not provided
PHOX2B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2901407

rs_138545772

8 SubmittersRCV000229358 RCV001017576 RCV001145118 RCV001391323 RCV001753699 RCV003919957 RCV004800351

NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)

SNV
Germline

Chr4:41745992

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2
Haddad syndrome
Condition: not provided
PHOX2B-related disorder

Criteria Provided
Conflicting Classifications

CA2901440

rs_766767855

7 SubmittersRCV000228402 RCV001026621 RCV001145120 RCV001358783 RCV003153530 RCV003422142

NM_198253.3(TERT):c.-57A>C

SNV
Germline/somatic

Chr5:1295046

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 9
Condition: not provided
Malignant tumor of urinary bladder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Neoplasm
Dyskeratosis congenita
Neuroblastoma

Criteria Provided
Conflicting Classifications

CA10582367

rs_878855297

11 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004668870 RCV004822022 RCV006253924

NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)

SNV
Germline

Chr1:10282440

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA580938

rs_763679404

5 SubmittersRCV000352133 RCV000405571 RCV004584662 RCV004021333 RCV004742372

NM_001365951.3(KIF1B):c.107-8T>A

SNV
Germline

Chr1:10256239

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA580614

rs_749389756

5 SubmittersRCV000287514 RCV001699285 RCV002518172 RCV003977816

NM_001365951.3(KIF1B):c.364-15A>G

SNV
Germline

Chr1:10261890

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580684

rs_771929965

3 SubmittersRCV000322651 RCV002522047 RCV006452578

NM_001365951.3(KIF1B):c.364-10A>G

SNV
Germline

Chr1:10261895

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10607191

rs_886044966

2 SubmittersRCV000337868 RCV006462364

NM_001365951.3(KIF1B):c.1360T>C (p.Leu454=)

SNV
Germline

Chr1:10282459

Conflicting classifications of pathogenicity

Neuroblastoma
not specified

Criteria Provided
Conflicting Classifications

CA10607200

rs_886044977

2 SubmittersRCV000312133 RCV004021334

NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)

SNV
Germline

Chr1:10256286

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Condition: not provided
not specified
Meniere disease
Neuroblastoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA580622

rs_143654307

8 SubmittersRCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840 RCV000347279 RCV005055103

NM_001365951.3(KIF1B):c.721-15A>G

SNV
Germline

Chr1:10271487

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580774

rs_755866386

2 SubmittersRCV000309335 RCV002519361

NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)

SNV
Germline

Chr1:10296990

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA581132

rs_142881321

4 SubmittersRCV000306544 RCV000366147 RCV001174213 RCV004021336

NM_001365951.3(KIF1B):c.3129+11G>T

SNV
Germline

Chr1:10336753

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA581706

rs_201224213

2 SubmittersRCV000328901 RCV002061150

NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)

SNV
Germline

Chr1:10365579

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA582148

rs_751084365

4 SubmittersRCV000322778 RCV003581649 RCV003897663 RCV004021349

NM_001365951.3(KIF1B):c.3423-15A>T

SNV
Germline

Chr1:10339754

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA581779

rs_200470260

5 SubmittersRCV000305426 RCV001173611 RCV004713482 RCV005638486 RCV005891453

NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)

SNV
Germline

Chr1:10334580

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
Charcot-Marie-Tooth disease
Condition: not provided
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA581660

rs_150904940

6 SubmittersRCV000267896 RCV000359940 RCV001172608 RCV003422205 RCV003910052 RCV004021338

NM_001365951.3(KIF1B):c.4179T>C (p.His1393=)

SNV
Germline

Chr1:10361700

Conflicting classifications of pathogenicity

Neuroblastoma
not specified

Criteria Provided
Conflicting Classifications

CA582011

rs_772429569

2 SubmittersRCV000385601 RCV004021347

NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)

SNV
Germline

Chr1:10368534

Conflicting classifications of pathogenicity

Neuroblastoma
not specified
KIF1B-related disorder
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582184

rs_145969842

5 SubmittersRCV000373752 RCV004021350 RCV003417930 RCV000469029 RCV003485573

NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)

SNV
Germline

Chr1:10339802

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581786

rs_574168097

3 SubmittersRCV000365817 RCV003743696 RCV004021340

NM_001365951.3(KIF1B):c.*2268C>T

SNV
Germline

Chr1:10378855

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607297

rs_574858597

2 SubmittersRCV000352426 RCV003221889

NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)

SNV
Germline

Chr1:10343253

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA10607306

rs_868389032

3 SubmittersRCV000262490 RCV001429983 RCV004021342

NM_001365951.3(KIF1B):c.*3639T>C

SNV
Germline

Chr1:10380226

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607313

rs_551392566

2 SubmittersRCV000301066 RCV003422209

NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe)

SNV
Germline

Chr1:10361028

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581994

rs_760253167

3 SubmittersRCV000290187 RCV001859741 RCV004021346

NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)

SNV
Germline

Chr1:10374995

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
KIF1B-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA582296

rs_146436697

5 SubmittersRCV000306164 RCV000467676 RCV003967815 RCV004021351 RCV006435031

NM_001365951.3(KIF1B):c.*839C>T

SNV
Germline

Chr1:10377426

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607340

rs_549614550

2 SubmittersRCV000343578 RCV003422207

NM_004304.5(ALK):c.4433T>C (p.Met1478Thr)

SNV
Germline

Chr2:29193654

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593574

rs_141010693

6 SubmittersRCV000469389 RCV002255369 RCV002291619

NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)

SNV
Germline

Chr2:29193712

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593586

rs_372612147

5 SubmittersRCV000555867 RCV002256210 RCV004760482

NM_004304.5(ALK):c.2488A>T (p.Met830Leu)

SNV
Germline

Chr2:29232448

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594284

rs_780536554

5 SubmittersRCV000469900 RCV004725175 RCV005338147

NM_004304.5(ALK):c.510C>T (p.Leu170=)

SNV
Germline

Chr2:29920150

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10613155

rs_886055933

3 SubmittersRCV000370379 RCV003352842

NM_004304.5(ALK):c.507T>C (p.Asn169=)

SNV
Germline

Chr2:29920153

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594950

rs_780271684

2 SubmittersRCV000275905 RCV004021813

NM_004304.5(ALK):c.310C>A (p.Pro104Thr)

SNV
Germline

Chr2:29920350

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1595007

rs_576431612

4 SubmittersRCV000530879 RCV002323541 RCV004725176

NM_004304.5(ALK):c.-415T>C

SNV
Germline

Chr2:29921074

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613172

rs_755231246

2 SubmittersRCV000392419 RCV002263610

NM_004304.5(ALK):c.2901C>A (p.Thr967=)

SNV
Germline

Chr2:29227587

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10613632

rs_886055930

4 SubmittersRCV000407364 RCV003441845 RCV002436199

NM_004304.5(ALK):c.1550A>G (p.His517Arg)

SNV
Germline

Chr2:29318401

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594612

rs_367674546

5 SubmittersRCV000529454 RCV001526802 RCV002402059 RCV003148707

NM_004304.5(ALK):c.4344C>T (p.Ser1448=)

SNV
Germline

Chr2:29193743

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10615007

rs_886055929

3 SubmittersRCV000543309 RCV002328860

NM_004304.5(ALK):c.930G>T (p.Glu310Asp)

SNV
Germline

Chr2:29694872

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594812

rs_367712624

6 SubmittersRCV000551970 RCV002255145 RCV004694556

NM_004304.5(ALK):c.655A>G (p.Ile219Val)

SNV
Germline

Chr2:29920005

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10615011

rs_886055932

5 SubmittersRCV000706113 RCV003156239 RCV005338148

NM_004304.5(ALK):c.386G>T (p.Gly129Val)

SNV
Germline

Chr2:29920274

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594986

rs_760041708

5 SubmittersRCV000647443 RCV003401357 RCV004021814

NM_004304.5(ALK):c.32C>T (p.Pro11Leu)

SNV
Germline

Chr2:29920628

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595067

rs_767822322

7 SubmittersRCV000647453 RCV000997105 RCV002257647

NM_003924.4(PHOX2B):c.*18G>A

SNV
Germline

Chr4:41745789

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2901382

rs_776498322

1 SubmittersRCV000271948 RCV000366615

NM_003924.4(PHOX2B):c.*19C>A

SNV
Germline

Chr4:41745788

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 2
Congenital central hypoventilation

Criteria Provided
Conflicting Classifications

CA2901381

rs_770841700

1 SubmittersRCV000306960 RCV000397644

NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)

SNV
Germline

Chr4:41745979

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Haddad syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2901428

rs_747626591

9 SubmittersRCV000268582 RCV000323710 RCV001026770 RCV001507229 RCV003228923 RCV003151040

NM_003924.4(PHOX2B):c.*60G>A

SNV
Germline

Chr4:41745747

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10621097

rs_558416040

1 SubmittersRCV000285434 RCV000335743

NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)

SNV
Germline

Chr4:41746023

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2
Haddad syndrome
Hereditary cancer-predisposing syndrome
PHOX2B-related disorder

Criteria Provided
Conflicting Classifications

CA2901451

rs_751829128

4 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240 RCV004752872

NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)

SNV
Germline/somatic

Chr1:114713908

Conflicting classifications of pathogenicity

RASopathy
Colorectal cancer
Neuroblastoma
Embryonal rhabdomyosarcoma

Criteria Provided
Conflicting Classifications

CA16602361

rs_11554290

3 SubmittersRCV002524687 RCV005603619 RCV006253944 RCV006253945

NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys)

SNV
Germline/somatic

Chr2:29220830

Likely pathogenic

ALK-related disorder
Neuroblastoma

Criteria Provided
Single Submitter

CA16602370

rs_1057519697

2 SubmittersRCV003401411 RCV006253948

NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)

SNV
Germline

Chr2:29193292

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593480

rs_373037272

7 SubmittersRCV000470897 RCV002298594 RCV004948298

NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala)

SNV
Germline

Chr2:29193384

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593508

rs_763613910

4 SubmittersRCV000458834 RCV004591285 RCV004948295

NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)

SNV
Germline

Chr2:29193887

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1593626

rs_143647372

6 SubmittersRCV000471219 RCV001022040 RCV003392267

NM_004304.5(ALK):c.2822A>G (p.Asn941Ser)

SNV
Germline

Chr2:29227666

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594166

rs_368654781

5 SubmittersRCV000473788 RCV003227750 RCV003392268 RCV005582312

NM_004304.5(ALK):c.2284A>G (p.Ile762Val)

SNV
Germline

Chr2:29239751

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594369

rs_751419856

2 SubmittersRCV000476112 RCV002446771

NM_004304.5(ALK):c.2016A>T (p.Arg672Ser)

SNV
Germline

Chr2:29275124

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610715

rs_1060500225

2 SubmittersRCV000457475 RCV004948306

NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)

SNV
Germline

Chr2:29213985

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593801

rs_145028315

4 SubmittersRCV000657739 RCV001086604 RCV001021020

NM_004304.5(ALK):c.775C>T (p.Arg259Cys)

SNV
Germline

Chr2:29717590

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA1594872

rs_771593278

6 SubmittersRCV000468417 RCV002256243 RCV003226926 RCV005898435

NM_004304.5(ALK):c.615C>G (p.Ser205=)

SNV
Germline

Chr2:29920045

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594934

rs_567498111

3 SubmittersRCV000456861 RCV001024960

NM_004304.5(ALK):c.1999G>A (p.Gly667Arg)

SNV
Germline

Chr2:29275141

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594466

rs_539763601

5 SubmittersRCV000459331 RCV004948296

NM_004304.5(ALK):c.1983C>A (p.Asn661Lys)

SNV
Germline

Chr2:29275157

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594472

rs_758860363

3 SubmittersRCV000476121 RCV005338176

NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)

SNV
Germline

Chr2:29297053

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594566

rs_374136388

2 SubmittersRCV000460471 RCV004948302

NM_004304.5(ALK):c.1648C>T (p.Leu550Phe)

SNV
Germline

Chr2:29297057

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA1594568

rs_769821764

4 SubmittersRCV000467087 RCV002256282 RCV003153651

NM_004304.5(ALK):c.892G>A (p.Ala298Thr)

SNV
Germline

Chr2:29694910

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594826

rs_577240830

4 SubmittersRCV000457871 RCV005054193 RCV005338172

NM_004304.5(ALK):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr2:29920454

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1595025

rs_769061878

5 SubmittersRCV000456939 RCV002257684 RCV002291626

NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)

SNV
Germline

Chr2:29193441

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593523

rs_199646095

5 SubmittersRCV000462396 RCV000482658 RCV002329015

NM_004304.5(ALK):c.76G>A (p.Gly26Ser)

SNV
Germline

Chr2:29920584

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610758

rs_1060500214

4 SubmittersRCV000458240 RCV004591288 RCV004948299

NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)

SNV
Germline

Chr2:29214035

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593804

rs_200110351

5 SubmittersRCV000474175 RCV000569692 RCV002305487

NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)

SNV
Germline

Chr2:29222605

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593974

rs_55760835

6 SubmittersRCV000467869 RCV000571840 RCV002473007

NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)

SNV
Germline

Chr2:29225473

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594061

rs_375889530

7 SubmittersRCV000464094 RCV000761163 RCV002285331 RCV002256242

NM_004304.5(ALK):c.3133G>A (p.Val1045Met)

SNV
Germline

Chr2:29225500

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594065

rs_200641396

4 SubmittersRCV000462948 RCV002289587 RCV004948297

NM_004304.5(ALK):c.3115G>A (p.Val1039Met)

SNV
Germline

Chr2:29225518

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594071

rs_200080181

6 SubmittersRCV000467803 RCV000761097 RCV002284391 RCV004948304

NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)

SNV
Germline

Chr2:29233636

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594321

rs_80227749

5 SubmittersRCV000459873 RCV003409611 RCV004722761 RCV004948300

NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)

SNV
Germline

Chr2:29275222

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594482

rs_144453491

7 SubmittersRCV000474932 RCV002258899 RCV003488597

NM_004304.5(ALK):c.1190A>T (p.Asp397Val)

SNV
Germline

Chr2:29383824

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594724

rs_368122868

5 SubmittersRCV000462810 RCV004772912 RCV004948308

NM_004304.5(ALK):c.926C>T (p.Ala309Val)

SNV
Germline

Chr2:29694876

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610811

rs_748017801

3 SubmittersRCV000456305 RCV002374742 RCV003159119

NM_004304.5(ALK):c.925G>A (p.Ala309Thr)

SNV
Germline

Chr2:29694877

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594814

rs_145681577

2 SubmittersRCV000476286 RCV004948301

NM_004304.5(ALK):c.875G>A (p.Arg292His)

SNV
Germline

Chr2:29694927

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594830

rs_149145987

5 SubmittersRCV000473638 RCV002256241 RCV004719821

NM_004304.5(ALK):c.872G>A (p.Arg291His)

SNV
Germline

Chr2:29694930

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594833

rs_572340007

6 SubmittersRCV000465368 RCV003153577 RCV004760497 RCV004948305

NM_004304.5(ALK):c.782G>A (p.Arg261Gln)

SNV
Germline

Chr2:29717583

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
not specified
ALK-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594870

rs_375097381

6 SubmittersRCV000460065 RCV003151057 RCV003401448 RCV003225068 RCV004948303

NM_004304.5(ALK):c.4845G>A (p.Met1615Ile)

SNV
Germline

Chr2:29193242

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593462

rs_747978928

2 SubmittersRCV000457300 RCV005338169

NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)

SNV
Germline

Chr2:29193286

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593478

rs_376702277

7 SubmittersRCV000475870 RCV002339111 RCV004591286

NM_004304.5(ALK):c.4303G>A (p.Glu1435Lys)

SNV
Germline

Chr2:29193784

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593602

rs_769694344

2 SubmittersRCV000470259 RCV005338171

NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)

SNV
Germline

Chr2:29232376

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594263

rs_189078025

3 SubmittersRCV000464123 RCV002451070

NM_004304.5(ALK):c.2012C>T (p.Pro671Leu)

SNV
Germline

Chr2:29275128

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594464

rs_767998637

3 SubmittersRCV000476479 RCV004722763 RCV005338174

NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)

SNV
Germline

Chr2:29193251

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593465

rs_78174819

3 SubmittersRCV000478470 RCV001856865 RCV004948365

NM_004304.5(ALK):c.1753G>A (p.Ala585Thr)

SNV
Germline

Chr2:29296952

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594543

rs_772496459

4 SubmittersRCV000478482 RCV000818616 RCV005338196

NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)

SNV
Germline/somatic

Chr3:179199103

Pathogenic

Condition: not provided
Global developmental delay
Hypospadias
Macrocephaly
Cowden syndrome 5
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617846

rs_1064793663

4 SubmittersRCV000487221 RCV002464207 RCV005252905 RCV006254062

NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)

SNV
Germline/somatic

Chr13:32332553

Conflicting classifications of pathogenicity

Neuroblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761412

rs_1555281730

3 SubmittersRCV000505644 RCV000776715

NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)

SNV
Germline

Chr1:10276376

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
KIF1B-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580866

rs_150411706

5 SubmittersRCV000560282 RCV001099772 RCV003980040 RCV004024390 RCV005865347

NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)

SNV
Germline

Chr1:10282463

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580946

rs_201474903

3 SubmittersRCV000534091 RCV004024377 RCV005398866

NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)

SNV
Germline

Chr1:10374971

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582290

rs_774464311

3 SubmittersRCV000558923 RCV004024388 RCV005010525

NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe)

SNV
Germline

Chr2:29193744

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA346462550

rs_1553387094

2 SubmittersRCV000530604 RCV003153720

NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu)

SNV
Germline

Chr2:29193894

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593630

rs_531490912

5 SubmittersRCV000540490 RCV003226944 RCV004948443

NM_004304.5(ALK):c.2712T>A (p.His904Gln)

SNV
Germline

Chr2:29228987

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594212

rs_766742720

5 SubmittersRCV000534250 RCV004772984 RCV005338241

NM_004304.5(ALK):c.2269G>A (p.Val757Met)

SNV
Germline

Chr2:29239766

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594372

rs_371005946

6 SubmittersRCV000528414 RCV003153718 RCV003225087 RCV005338238

NM_004304.5(ALK):c.1756G>A (p.Ala586Thr)

SNV
Germline

Chr2:29296949

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594541

rs_75158395

3 SubmittersRCV000555720 RCV003318593 RCV004024155

NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)

SNV
Germline

Chr2:29320769

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594630

rs_201449759

4 SubmittersRCV000532921 RCV003900208 RCV004719868 RCV004948439

NM_004304.5(ALK):c.1189G>A (p.Asp397Asn)

SNV
Germline

Chr2:29383825

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594725

rs_747810439

4 SubmittersRCV000536445 RCV004948434 RCV004691890

NM_004304.5(ALK):c.1184G>A (p.Arg395His)

SNV
Germline

Chr2:29383830

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594726

rs_769910087

8 SubmittersRCV000560261 RCV002258962 RCV003325492

NM_004304.5(ALK):c.922G>A (p.Gly308Arg)

SNV
Germline

Chr2:29694880

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346586865

rs_1553348499

2 SubmittersRCV000539346 RCV005328310

NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)

SNV
Germline

Chr2:29193877

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593623

rs_757615099

6 SubmittersRCV000553113 RCV003153719 RCV004024161 RCV004592596

NM_004304.5(ALK):c.699G>A (p.Met233Ile)

SNV
Germline

Chr2:29717666

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594893

rs_778129557

4 SubmittersRCV000559983 RCV004948445 RCV004592597

NM_004304.5(ALK):c.140C>T (p.Ser47Leu)

SNV
Germline

Chr2:29920520

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595037

rs_541315214

5 SubmittersRCV000551780 RCV001356620 RCV004948438

NM_004304.5(ALK):c.7G>A (p.Ala3Thr)

SNV
Germline

Chr2:29920653

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590865

rs_1446332510

3 SubmittersRCV000538902 RCV002420488

NM_004304.5(ALK):c.3646-5C>T

SNV
Germline

Chr2:29214086

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658655644

rs_1444967093

2 SubmittersRCV000558711 RCV004024159

NM_004304.5(ALK):c.2979C>T (p.Asp993=)

SNV
Germline

Chr2:29227010

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594119

rs_761999849

4 SubmittersRCV000540706 RCV002257823 RCV005256634

NM_004304.5(ALK):c.2073C>T (p.Ser691=)

SNV
Germline

Chr2:29251236

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594441

rs_370435082

5 SubmittersRCV000558370 RCV002420486 RCV005641688

NM_004304.5(ALK):c.1283-5T>C

SNV
Germline

Chr2:29328486

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594689

rs_377214413

7 SubmittersRCV000731880 RCV001088281 RCV001775059 RCV002257821

NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)

SNV
Germline

Chr2:29383831

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594727

rs_779282861

5 SubmittersRCV000542876 RCV002255453 RCV004772982

NM_004304.5(ALK):c.350C>G (p.Pro117Arg)

SNV
Germline

Chr2:29920310

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594997

rs_201290745

6 SubmittersRCV000541277 RCV002257825 RCV003159885

NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)

SNV
Germline

Chr2:29214036

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593805

rs_771475772

4 SubmittersRCV000535025 RCV001020893 RCV003332196

NM_004304.5(ALK):c.3081G>A (p.Pro1027=)

SNV
Germline

Chr2:29225552

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594086

rs_747320964

3 SubmittersRCV000554570 RCV005256635 RCV005338243

NM_004304.5(ALK):c.2417G>A (p.Arg806His)

SNV
Germline

Chr2:29233635

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594319

rs_761568836

5 SubmittersRCV000539294 RCV002258963 RCV004592594

NM_004304.5(ALK):c.3055G>A (p.Val1019Ile)

SNV
Germline

Chr2:29226934

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594108

rs_76742576

4 SubmittersRCV000546699 RCV004948441

NM_004304.5(ALK):c.2263C>A (p.His755Asn)

SNV
Germline

Chr2:29239772

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA44642976

rs_925915337

6 SubmittersRCV000547844 RCV002448743 RCV004721433

NM_004304.5(ALK):c.2304T>C (p.Asp768=)

SNV
Germline

Chr2:29239731

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594367

rs_758649392

3 SubmittersRCV000549077 RCV002448745

NM_004304.5(ALK):c.1705G>A (p.Val569Met)

SNV
Germline

Chr2:29297000

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594555

rs_754971913

2 SubmittersRCV000524799 RCV005582341

NM_004304.5(ALK):c.1725G>C (p.Lys575Asn)

SNV
Germline

Chr2:29296980

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44643058

rs_1010580453

4 SubmittersRCV000538689 RCV002245007 RCV003159883

NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)

SNV
Germline

Chr2:29296985

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Diffuse midline glioma, H3 K27-altered
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594552

rs_762358335

9 SubmittersRCV000525971 RCV002256381 RCV003313100 RCV003236815 RCV003962544

NM_004304.5(ALK):c.1279G>A (p.Glu427Lys)

SNV
Germline

Chr2:29383735

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594707

rs_371652715

5 SubmittersRCV000537783 RCV002384194 RCV004760582

NM_004304.5(ALK):c.1670G>A (p.Arg557His)

SNV
Germline

Chr2:29297035

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594560

rs_200468507

5 SubmittersRCV000535999 RCV003441935 RCV005338237

NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)

SNV
Germline

Chr2:29318404

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594613

rs_761724656

2 SubmittersRCV000553296 RCV002404504

NM_004304.5(ALK):c.1108G>A (p.Glu370Lys)

SNV
Germline

Chr2:29531961

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594766

rs_373120394

5 SubmittersRCV000555000 RCV004760581 RCV005338235

NM_004304.5(ALK):c.781C>T (p.Arg261Ter)

SNV
Germline

Chr2:29717584

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44979597

rs_972790555

3 SubmittersRCV000550182 RCV003409805 RCV005582347

NM_004304.5(ALK):c.661G>C (p.Gly221Arg)

SNV
Germline

Chr2:29919999

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594926

rs_199584443

5 SubmittersRCV000560898 RCV001025462 RCV004760585

NM_004304.5(ALK):c.233C>G (p.Ser78Trp)

SNV
Germline

Chr2:29920427

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590433

rs_748978993

3 SubmittersRCV000555107 RCV004948440

NM_004304.5(ALK):c.118C>T (p.Pro40Ser)

SNV
Germline

Chr2:29920542

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595044

rs_371679329

3 SubmittersRCV000544242 RCV004722906 RCV004948435

NM_004304.5(ALK):c.13G>A (p.Gly5Arg)

SNV
Germline

Chr2:29920647

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590852

rs_1272214012

2 SubmittersRCV000534322 RCV004948437

NM_004304.5(ALK):c.153G>A (p.Arg51=)

SNV
Germline

Chr2:29920507

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1595034

rs_200204526

3 SubmittersRCV000540965 RCV002404503 RCV005250076

NM_004304.5(ALK):c.107C>T (p.Pro36Leu)

SNV
Germline

Chr2:29920553

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1595046

rs_773691688

3 SubmittersRCV000525534 RCV002420484 RCV003403320

NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)

SNV
Germline

Chr4:41745956

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA356737122

rs_1260084723

4 SubmittersRCV000547484 RCV001027018 RCV003129903 RCV004568824

NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)

SNV
Germline

Chr4:41747387

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2901525

rs_748614674

4 SubmittersRCV000536791 RCV001021436 RCV003476288 RCV004722895

NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)

SNV
Germline

Chr4:41748465

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2901603

rs_559227588

4 SubmittersRCV000545357 RCV001011753 RCV003476287 RCV003324762

NM_004304.5(ALK):c.3645G>A (p.Pro1215=)

SNV
Germline

Chr2:29220706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593836

rs_775768862

3 SubmittersRCV000575880 RCV000685406 RCV003409847

NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)

SNV
Germline

Chr2:29223363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594004

rs_199987354

6 SubmittersRCV000566636 RCV000647454 RCV001354522

NM_004304.5(ALK):c.3366G>A (p.Leu1122=)

SNV
Germline

Chr2:29222601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1593971

rs_758871506

3 SubmittersRCV000575047 RCV000869370

NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)

SNV
Germline

Chr4:41748384

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Haddad syndrome
Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2
Neuroblastoma, susceptibility to, 2
Condition: not provided
PHOX2B-related disorder

Criteria Provided
Conflicting Classifications

CA2901598

rs_532711949

7 SubmittersRCV000565021 RCV000643944 RCV000764535 RCV003471903 RCV002510925 RCV003945354

NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)

SNV
Germline

Chr2:29223465

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594031

rs_754163075

4 SubmittersRCV000647442 RCV002449062 RCV003128677

NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser)

SNV
Germline

Chr2:29193339

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593494

rs_751677905

4 SubmittersRCV000647469 RCV002285387 RCV005338289

NM_004304.5(ALK):c.1834G>A (p.Val612Ile)

SNV
Germline

Chr2:29275480

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346480020

rs_1431784023

3 SubmittersRCV000647450 RCV003313125 RCV005338288

NM_004304.5(ALK):c.3939-9C>T

SNV
Germline

Chr2:29197685

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1593711

rs_749848775

2 SubmittersRCV000647519

NM_004304.5(ALK):c.1148A>T (p.Lys383Met)

SNV
Germline

Chr2:29531921

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594761

rs_140928266

7 SubmittersRCV000647404 RCV003226963 RCV004948534

NM_004304.5(ALK):c.941A>G (p.Glu314Gly)

SNV
Germline

Chr2:29694861

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594807

rs_778845512

3 SubmittersRCV000647433 RCV004948537

NM_004304.5(ALK):c.822G>A (p.Leu274=)

SNV
Germline

Chr2:29694980

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425520848

rs_1265006535

3 SubmittersRCV000647384 RCV004629269

NM_004304.5(ALK):c.628G>A (p.Ala210Thr)

SNV
Germline

Chr2:29920032

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594931

rs_755697363

2 SubmittersRCV000647412 RCV005582374

NM_004304.5(ALK):c.616G>A (p.Ala206Thr)

SNV
Germline

Chr2:29920044

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594933

rs_141093002

5 SubmittersRCV000647466 RCV002255491 RCV003488760

NM_004304.5(ALK):c.506A>G (p.Asn169Ser)

SNV
Germline

Chr2:29920154

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594951

rs_752129360

3 SubmittersRCV000647440 RCV002257901

NM_004304.5(ALK):c.1235G>A (p.Arg412His)

SNV
Germline

Chr2:29383779

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346585193

rs_1388736375

4 SubmittersRCV000647434 RCV002360611 RCV003156274

NM_004304.5(ALK):c.409C>G (p.Arg137Gly)

SNV
Germline

Chr2:29920251

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590105

rs_757382067

2 SubmittersRCV000647387 RCV004948533

NM_004304.5(ALK):c.357G>T (p.Glu119Asp)

SNV
Germline

Chr2:29920303

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594995

rs_758250431

5 SubmittersRCV000647455 RCV003153787 RCV004025737 RCV004768506

NM_004304.5(ALK):c.2275G>A (p.Val759Met)

SNV
Germline

Chr2:29239760

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594370

rs_199691702

5 SubmittersRCV000647399 RCV002449060 RCV003117453

NM_004304.5(ALK):c.1911C>T (p.Thr637=)

SNV
Germline

Chr2:29275403

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425619483

rs_1553402750

2 SubmittersRCV000647475 RCV002406431

NM_004304.5(ALK):c.3210G>A (p.Gln1070=)

SNV
Germline

Chr2:29223491

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594036

rs_138178848

4 SubmittersRCV000647512 RCV002307573 RCV002449064 RCV003892468

NM_004304.5(ALK):c.1246G>T (p.Ala416Ser)

SNV
Germline

Chr2:29383768

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346585152

rs_775917326

4 SubmittersRCV000647462 RCV002388116 RCV005628836

NM_004304.5(ALK):c.397C>T (p.Arg133Cys)

SNV
Germline

Chr2:29920263

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594982

rs_775940832

4 SubmittersRCV000647424 RCV004948535

NM_004304.5(ALK):c.1790T>C (p.Val597Ala)

SNV
Germline

Chr2:29296915

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594536

rs_747000305

2 SubmittersRCV000647411 RCV005582373

NM_004304.5(ALK):c.1787T>C (p.Met596Thr)

SNV
Germline

Chr2:29296918

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594537

rs_754810505

8 SubmittersRCV000647463 RCV002406428 RCV003106011 RCV004745531

NM_004304.5(ALK):c.1044C>T (p.Ala348=)

SNV
Germline

Chr2:29532025

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594776

rs_200293454

3 SubmittersRCV000647492 RCV002397272

NM_004304.5(ALK):c.919C>T (p.Pro307Ser)

SNV
Germline

Chr2:29694883

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594817

rs_199790669

5 SubmittersRCV000647377 RCV003411528 RCV005338281 RCV004760675

NM_004304.5(ALK):c.843T>A (p.His281Gln)

SNV
Germline

Chr2:29694959

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594837

rs_759250272

4 SubmittersRCV000647413 RCV005851577

NM_004304.5(ALK):c.692C>G (p.Thr231Arg)

SNV
Germline

Chr2:29717673

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594898

rs_142120301

5 SubmittersRCV000647423 RCV002256446 RCV003317320

NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)

SNV
Somatic

Chr2:29222347

Pathogenic

Neuroblastoma

No Assertion Criteria Provided

CA346462880

rs_1057519698

1 SubmittersRCV000656371

NM_000135.4(FANCA):c.4261-2A>C

SNV
Germline

Chr16:89738710

Pathogenic

Fanconi anemia complementation group A
Neuroblastoma
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286613931

rs_915983602

5 SubmittersRCV000656368 RCV000656370 RCV001855345

NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)

SNV
Unknown

Chr16:89764940

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Neuroblastoma

No Assertion Criteria Provided

CA397438141

rs_1216426444

1 SubmittersRCV000656367 RCV000656369

NM_001365951.3(KIF1B):c.2675+3A>G

SNV
Germline

Chr1:10324898

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA581577

rs_200684032

5 SubmittersRCV000691393 RCV003238178 RCV004025086 RCV005049658

NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)

SNV
Germline

Chr2:29197587

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593702

rs_753763148

4 SubmittersRCV000686469 RCV001021707 RCV004721549

NM_004304.5(ALK):c.2204+4C>T

SNV
Germline

Chr2:29251101

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594415

rs_201806531

2 SubmittersRCV000696696 RCV004629303

NM_004304.5(ALK):c.1757C>T (p.Ala586Val)

SNV
Germline

Chr2:29296948

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44642925

rs_1046338903

3 SubmittersRCV000691667 RCV005348190

NM_004304.5(ALK):c.1529G>A (p.Arg510Gln)

SNV
Germline

Chr2:29320768

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594629

rs_776351932

2 SubmittersRCV000689840 RCV004026341

NM_004304.5(ALK):c.760C>T (p.Pro254Ser)

SNV
Germline

Chr2:29717605

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594879

rs_774815140

3 SubmittersRCV000702200 RCV002307602 RCV004948620

NM_004304.5(ALK):c.2623G>A (p.Gly875Arg)

SNV
Germline

Chr2:29232313

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594252

rs_148001139

5 SubmittersRCV000706675 RCV003238195 RCV004949876

NM_004304.5(ALK):c.2515A>G (p.Ile839Val)

SNV
Germline

Chr2:29232421

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346471987

rs_1371180882

3 SubmittersRCV000698411 RCV005582402 RCV005235468

NM_004304.5(ALK):c.2497G>T (p.Gly833Ter)

SNV
Germline

Chr2:29232439

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44638401

rs_74360487

3 SubmittersRCV000693126 RCV003892545 RCV005338313

NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)

SNV
Germline

Chr2:29318369

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594597

rs_758494304

3 SubmittersRCV000703520 RCV000761066 RCV004948625

NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)

SNV
Germline

Chr2:29717646

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594888

rs_550608288

4 SubmittersRCV000694546 RCV002369875

NM_004304.5(ALK):c.874C>T (p.Arg292Cys)

SNV
Germline

Chr2:29694928

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594831

rs_201750304

5 SubmittersRCV000699607 RCV003489823 RCV005338323

NM_004304.5(ALK):c.470C>T (p.Pro157Leu)

SNV
Germline

Chr2:29920190

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594961

rs_775385954

5 SubmittersRCV000690874 RCV002255161 RCV003313133

NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)

SNV
Germline

Chr2:29193839

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593609

rs_55782189

3 SubmittersRCV000694794 RCV001797129 RCV004948601

NM_004304.5(ALK):c.4164G>A (p.Gln1388=)

SNV
Germline

Chr2:29196770

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593652

rs_200902932

2 SubmittersRCV000687359 RCV004948572

NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)

SNV
Germline

Chr2:29227037

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346467950

rs_1558626238

2 SubmittersRCV000700224 RCV005851591

NM_004304.5(ALK):c.2548G>C (p.Gly850Arg)

SNV
Germline

Chr2:29232388

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44638296

rs_200563480

3 SubmittersRCV000686335 RCV005338305

NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)

SNV
Germline

Chr2:29251115

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594416

rs_768366852

4 SubmittersRCV000699154 RCV000761178 RCV005582405

NM_004304.5(ALK):c.1413C>T (p.Cys471=)

SNV
Germline

Chr2:29328351

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594667

rs_770707805

2 SubmittersRCV000686610 RCV004948570

NM_004304.5(ALK):c.1042G>A (p.Ala348Thr)

SNV
Germline

Chr2:29532027

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594778

rs_763611527

3 SubmittersRCV000687580 RCV004948577

NM_004304.5(ALK):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr2:29694969

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594839

rs_199703254

3 SubmittersRCV000704714 RCV004949871

NM_004304.5(ALK):c.95C>T (p.Pro32Leu)

SNV
Germline

Chr2:29920565

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA45004786

rs_759748510

2 SubmittersRCV000703099 RCV004948623

NM_004304.5(ALK):c.49G>A (p.Ala17Thr)

SNV
Germline

Chr2:29920611

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595057

rs_369196372

2 SubmittersRCV000698821 RCV005338321

NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)

SNV
Germline

Chr4:41745887

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2901400

rs_769663483

4 SubmittersRCV000698405 RCV001018142 RCV003238806 RCV005034312

NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr19:10986368

Likely pathogenic

Neuroblastoma

Criteria Provided
Single Submitter

CA404056292

rs_1469271544

1 SubmittersRCV000722032

NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)

SNV
Germline

Chr9:95508307

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139065

rs_778460384

5 SubmittersRCV000761070 RCV000828033 RCV001202675 RCV002255517

NM_004304.5(ALK):c.2633-3C>T

SNV
Germline

Chr2:29229069

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Familial isolated pituitary adenoma
ALK-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594225

rs_200341945

5 SubmittersRCV000800831 RCV001775060 RCV003975309 RCV004629320 RCV004777860

NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)

SNV
Germline

Chr1:10258524

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Neuroblastoma
Pheochromocytoma
not specified

Criteria Provided
Conflicting Classifications

CA580653

rs_761343609

4 SubmittersRCV000795601 RCV001097598 RCV002291698 RCV004027530

NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys)

SNV
Germline

Chr2:29193455

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593525

rs_763403897

3 SubmittersRCV000824360 RCV002508270 RCV004950013

NM_004304.5(ALK):c.4459T>C (p.Ser1487Pro)

SNV
Germline

Chr2:29193628

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593568

rs_762072069

3 SubmittersRCV000804122 RCV002332637 RCV004723213

NM_004304.5(ALK):c.4307G>A (p.Arg1436His)

SNV
Germline

Chr2:29193780

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593600

rs_544926207

3 SubmittersRCV000816029 RCV002259028

NM_004304.5(ALK):c.4261G>A (p.Val1421Ile)

SNV
Germline

Chr2:29193826

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593607

rs_774358799

2 SubmittersRCV000800539 RCV004028030

NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro)

SNV
Germline

Chr2:29193876

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593621

rs_377129811

4 SubmittersRCV000799861 RCV003442083 RCV004949926

NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter)

SNV
Germline

Chr2:29207171

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346468431

rs_1573098889

3 SubmittersRCV000810265 RCV003229865 RCV005582437

NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)

SNV
Germline

Chr2:29207267

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593740

rs_761459938

4 SubmittersRCV000821604 RCV002363166 RCV003225131

NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)

SNV
Germline

Chr2:29225557

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346467083

rs_781515382

3 SubmittersRCV000814225 RCV002319588

NM_004304.5(ALK):c.2845G>A (p.Glu949Lys)

SNV
Germline

Chr2:29227643

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594162

rs_774004991

4 SubmittersRCV000816876 RCV004768694 RCV004949991

NM_004304.5(ALK):c.2503C>T (p.Pro835Ser)

SNV
Germline

Chr2:29232433

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594281

rs_763771560

4 SubmittersRCV000809542 RCV002453826 RCV004723222

NM_004304.5(ALK):c.2040A>G (p.Thr680=)

SNV
Germline

Chr2:29275100

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594461

rs_748335936

2 SubmittersRCV000811153 RCV003166299

NM_004304.5(ALK):c.1837G>A (p.Ala613Thr)

SNV
Germline

Chr2:29275477

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594509

rs_61744521

4 SubmittersRCV000811023 RCV003153851 RCV004745604 RCV005348226

NM_004304.5(ALK):c.1804G>A (p.Asp602Asn)

SNV
Germline

Chr2:29296901

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346465836

rs_1165866210

2 SubmittersRCV000792899 RCV005582426

NM_004304.5(ALK):c.1564A>T (p.Ser522Cys)

SNV
Germline

Chr2:29318387

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346471368

rs_1573223126

2 SubmittersRCV000792548 RCV005348213

NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)

SNV
Germline

Chr2:29320850

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346472608

rs_1453170969

2 SubmittersRCV000806750 RCV002390612

NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)

SNV
Germline

Chr2:29383795

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594719

rs_765139446

2 SubmittersRCV000810248 RCV002363090

NM_004304.5(ALK):c.1045G>A (p.Val349Ile)

SNV
Germline

Chr2:29532024

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594775

rs_370848188

4 SubmittersRCV000795099 RCV002281132 RCV005338352

NM_004304.5(ALK):c.931C>A (p.Arg311Ser)

SNV
Germline

Chr2:29694871

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594811

rs_149837139

2 SubmittersRCV000798675 RCV005338360

NM_004304.5(ALK):c.819G>T (p.Glu273Asp)

SNV
Germline

Chr2:29694983

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594843

rs_758537157

5 SubmittersRCV000801283 RCV002424849 RCV005056568

NM_004304.5(ALK):c.540A>C (p.Gln180His)

SNV
Germline

Chr2:29920120

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589837

rs_1572502948

2 SubmittersRCV000818059 RCV006406760

NM_004304.5(ALK):c.249C>T (p.Gly83=)

SNV
Germline

Chr2:29920411

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425626960

rs_1466800086

2 SubmittersRCV000796370 RCV005348215

NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)

SNV
Germline

Chr4:41745820

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2901389

rs_762234006

4 SubmittersRCV002233854 RCV002370071 RCV003130042 RCV003472339

NM_004304.5(ALK):c.1154+1G>A

SNV
Germline

Chr2:29531914

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594757

rs_766100418

4 SubmittersRCV000802724 RCV003317373 RCV005582435

NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)

SNV
Germline

Chr1:10334529

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA581650

rs_749154726

6 SubmittersRCV001098680 RCV001172600 RCV001429972 RCV004027697 RCV004546572

NM_004304.5(ALK):c.4809T>C (p.His1603=)

SNV
Germline

Chr2:29193278

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593474

rs_758502850

3 SubmittersRCV000870214 RCV002336819

NM_004304.5(ALK):c.4194G>A (p.Pro1398=)

SNV
Germline

Chr2:29193893

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593629

rs_201653228

3 SubmittersRCV000864429 RCV003892804 RCV005338410

NM_004304.5(ALK):c.3348C>A (p.Ile1116=)

SNV
Germline

Chr2:29223353

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594003

rs_374587233

3 SubmittersRCV000864385 RCV002319966 RCV004768723

NM_004304.5(ALK):c.1547-5C>T

SNV
Germline

Chr2:29318409

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594614

rs_764739691

2 SubmittersRCV000868367 RCV005851636

NM_004304.5(ALK):c.3186G>A (p.Lys1062=)

SNV
Germline

Chr2:29223515

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425435208

rs_1374146241

2 SubmittersRCV001404109 RCV004950029

NM_004304.5(ALK):c.2802C>T (p.Gly934=)

SNV
Germline

Chr2:29228897

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594194

rs_751581475

2 SubmittersRCV000871297 RCV005582464

NM_004304.5(ALK):c.2781G>T (p.Gly927=)

SNV
Germline

Chr2:29228918

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425436254

rs_1264537420

3 SubmittersRCV001506598 RCV003169183 RCV004721665

NM_004304.5(ALK):c.2736G>A (p.Lys912=)

SNV
Germline

Chr2:29228963

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425436407

rs_1489025810

3 SubmittersRCV000876449 RCV001497944 RCV005338442

NM_004304.5(ALK):c.3939-5C>T

SNV
Germline

Chr2:29197681

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915943707

rs_1573084845

2 SubmittersRCV000877092 RCV001021474

NM_004304.5(ALK):c.2898C>T (p.Tyr966=)

SNV
Germline

Chr2:29227590

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA44634641

rs_113303272

3 SubmittersRCV000951664 RCV006406792 RCV005865436

NM_004304.5(ALK):c.2391G>A (p.Glu797=)

SNV
Germline

Chr2:29233661

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44639252

rs_372037531

3 SubmittersRCV000946088 RCV002258070

NM_004304.5(ALK):c.4194G>C (p.Pro1398=)

SNV
Germline

Chr2:29193893

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425618931

rs_201653228

2 SubmittersRCV000933271 RCV006406786

NM_004304.5(ALK):c.2633-5C>G

SNV
Germline

Chr2:29229071

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594227

rs_773644242

2 SubmittersRCV000932699 RCV005348254

NM_004304.5(ALK):c.3360G>A (p.Arg1120=)

SNV
Germline

Chr2:29222607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1593976

rs_747985440

2 SubmittersRCV001020086 RCV003633555

NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)

SNV
Germline

Chr2:29223370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1594008

rs_752052590

3 SubmittersRCV001020010 RCV001039956

NM_000546.6(TP53):c.455C>G (p.Pro152Arg)

SNV
Germline/somatic

Chr17:7675157

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397842190

rs_587782705

4 SubmittersRCV001022693 RCV001383776 RCV002290546 RCV006254185

NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)

SNV
Germline

Chr1:10295759

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA581071

rs_139764209

3 SubmittersRCV001045927 RCV004031417 RCV005047235

NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)

SNV
Germline

Chr2:29193235

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346460008

rs_1668918068

4 SubmittersRCV001063753 RCV002339318 RCV005243462

NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)

SNV
Germline

Chr2:29193301

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593482

rs_748822593

2 SubmittersRCV001041589 RCV004950148

NM_004304.5(ALK):c.4694A>G (p.Asn1565Ser)

SNV
Germline

Chr2:29193393

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346460445

rs_1208409389

2 SubmittersRCV001041580 RCV005582497

NM_004304.5(ALK):c.4690G>A (p.Ala1564Thr)

SNV
Germline

Chr2:29193397

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44634750

rs_1019065457

2 SubmittersRCV001063049 RCV005582522

NM_004304.5(ALK):c.4594A>G (p.Asn1532Asp)

SNV
Germline

Chr2:29193493

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593536

rs_563126725

2 SubmittersRCV001051233 RCV005338535

NM_004304.5(ALK):c.4589G>A (p.Arg1530Lys)

SNV
Germline

Chr2:29193498

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44634826

rs_141242925

2 SubmittersRCV001066091 RCV005348297

NM_004304.5(ALK):c.4411G>A (p.Val1471Met)

SNV
Germline

Chr2:29193676

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593577

rs_201759867

2 SubmittersRCV001071336 RCV002327371

NM_004304.5(ALK):c.4367C>T (p.Pro1456Leu)

SNV
Germline

Chr2:29193720

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44635112

rs_944804641

3 SubmittersRCV001046378 RCV004783889 RCV005582502

NM_004304.5(ALK):c.3179G>A (p.Arg1060His)

SNV
Germline

Chr2:29223522

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594040

rs_769322016

3 SubmittersRCV001051346 RCV003442174 RCV004950175

NM_004304.5(ALK):c.1651C>T (p.Arg551Ter)

SNV
Germline

Chr2:29297054

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346466707

rs_1172956542

3 SubmittersRCV001065371 RCV005056848 RCV005582525

NM_004304.5(ALK):c.1286C>T (p.Thr429Ile)

SNV
Germline

Chr2:29328478

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594688

rs_775129242

2 SubmittersRCV001041447 RCV005851675

NM_004304.5(ALK):c.1114G>A (p.Ala372Thr)

SNV
Germline

Chr2:29531955

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594764

rs_753549939

4 SubmittersRCV001044327 RCV001356602 RCV005582500

NM_004304.5(ALK):c.904G>C (p.Asp302His)

SNV
Germline

Chr2:29694898

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346586902

rs_1275855734

3 SubmittersRCV001057288 RCV005348291 RCV005648081

NM_004304.5(ALK):c.709T>C (p.Ser237Pro)

SNV
Germline

Chr2:29717656

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594889

rs_757916299

3 SubmittersRCV001068664 RCV002255619

NM_004304.5(ALK):c.398G>A (p.Arg133His)

SNV
Germline

Chr2:29920262

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594981

rs_768229646

3 SubmittersRCV001058170 RCV002355053

NM_004304.5(ALK):c.362G>A (p.Arg121Gln)

SNV
Germline

Chr2:29920298

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590188

rs_779147984

2 SubmittersRCV001035741 RCV002460124

NM_004304.5(ALK):c.80A>G (p.Gln27Arg)

SNV
Germline

Chr2:29920580

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595051

rs_752501243

2 SubmittersRCV001035163 RCV005582494

NM_004304.5(ALK):c.35T>C (p.Leu12Pro)

SNV
Germline

Chr2:29920625

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590809

rs_1165737526

2 SubmittersRCV001046255 RCV004031428

NM_004304.5(ALK):c.3359+1G>T

SNV
Germline

Chr2:29223341

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346464574

rs_1669858309

2 SubmittersRCV001041307 RCV002320250

NM_004304.5(ALK):c.788-5T>C

SNV
Germline

Chr2:29695019

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594851

rs_749234736

3 SubmittersRCV001071067 RCV005348305 RCV005628875

NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)

SNV
Germline

Chr1:10256299

Conflicting classifications of pathogenicity

Neuroblastoma
not specified
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580625

rs_752674254

3 SubmittersRCV001097597 RCV004032027 RCV006465359

NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)

SNV
Germline

Chr1:10258573

Conflicting classifications of pathogenicity

Neuroblastoma
not specified

Criteria Provided
Conflicting Classifications

CA580659

rs_769781641

2 SubmittersRCV001097599 RCV004032028

NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)

SNV
Germline

Chr1:10276361

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA580861

rs_141637645

5 SubmittersRCV001097982 RCV002067747 RCV004032034 RCV005232124

NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)

SNV
Germline

Chr1:10282475

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580951

rs_375389310

3 SubmittersRCV001099951 RCV002554949 RCV004032055

NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)

SNV
Germline

Chr1:10337085

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA581725

rs_754121148

3 SubmittersRCV001100481 RCV001422392 RCV004032065

NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)

SNV
Germline

Chr1:10347812

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA581896

rs_746980680

4 SubmittersRCV001102440 RCV002069711 RCV003425921 RCV004032087

NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)

SNV
Germline

Chr1:10361803

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582026

rs_754234374

4 SubmittersRCV001098767 RCV001856337 RCV004032043 RCV005047305

NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)

SNV
Germline

Chr1:10365440

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA582121

rs_375130478

3 SubmittersRCV001098769 RCV001345974 RCV004032044

NM_001365951.3(KIF1B):c.*2114C>G

SNV
Germline

Chr1:10378701

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA17858973

rs_574859747

2 SubmittersRCV001097225 RCV003425919

NM_001365951.3(KIF1B):c.883-15C>T

SNV
Germline

Chr1:10275413

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA1139655940

rs_1397719362

2 SubmittersRCV001097981 RCV003744730

NM_004304.5(ALK):c.1908C>G (p.Leu636=)

SNV
Germline

Chr2:29275406

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425619491

rs_1268649558

3 SubmittersRCV001143781 RCV002411647

NM_004304.5(ALK):c.1890C>T (p.Ile630=)

SNV
Germline

Chr2:29275424

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425619510

rs_1278070199

3 SubmittersRCV001143782 RCV004950300

NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)

SNV
Germline

Chr2:29296985

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346466341

rs_762358335

3 SubmittersRCV001143783 RCV006406842

NM_004304.5(ALK):c.1306G>A (p.Ala436Thr)

SNV
Germline

Chr2:29328458

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594686

rs_745772939

4 SubmittersRCV001137221 RCV005348330

NM_004304.5(ALK):c.660C>T (p.Phe220=)

SNV
Germline

Chr2:29920000

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425524631

rs_1667944556

3 SubmittersRCV001140248 RCV003163310

NM_004304.5(ALK):c.615C>A (p.Ser205=)

SNV
Germline

Chr2:29920045

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA45004744

rs_567498111

3 SubmittersRCV001142088 RCV002355123

NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)

SNV
Germline

Chr4:41746011

Conflicting classifications of pathogenicity

Congenital central hypoventilation
Neuroblastoma, susceptibility to, 2
Haddad syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA95828475

rs_764470906

4 SubmittersRCV001147071 RCV001147072 RCV001430876 RCV001811674 RCV002379658

NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)

SNV
Germline

Chr1:10361818

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582028

rs_757899517

3 SubmittersRCV001217970 RCV004034052 RCV005049796

NM_004304.5(ALK):c.661G>A (p.Gly221Arg)

SNV
Germline

Chr2:29919999

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589589

rs_199584443

2 SubmittersRCV001219707 RCV006406860

NM_004304.5(ALK):c.85G>A (p.Ala29Thr)

SNV
Germline

Chr2:29920575

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590721

rs_1326321652

2 SubmittersRCV001220993 RCV004951349

NM_004304.5(ALK):c.74C>T (p.Thr25Ile)

SNV
Germline

Chr2:29920586

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595054

rs_753812499

4 SubmittersRCV001220623 RCV006406861

NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)

SNV
Germline

Chr4:41746103

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
PHOX2B-related disorder
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2901465

rs_759792321

4 SubmittersRCV001219764 RCV002365993 RCV004753237 RCV004570509

NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)

SNV
Germline

Chr1:10261933

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580688

rs_776533873

4 SubmittersRCV001213472 RCV003425995 RCV004033891 RCV005029774

NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)

SNV
Germline

Chr2:29214071

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593812

rs_752728718

2 SubmittersRCV001213748 RCV002451465

NM_004304.5(ALK):c.2011C>A (p.Pro671Thr)

SNV
Germline

Chr2:29275129

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44665418

rs_145780832

3 SubmittersRCV001208852 RCV005340669

NM_004304.5(ALK):c.1561C>T (p.Leu521Phe)

SNV
Germline

Chr2:29318390

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594608

rs_772274018

2 SubmittersRCV001212271 RCV006406854

NM_004304.5(ALK):c.1500A>C (p.Gln500His)

SNV
Germline

Chr2:29320797

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594638

rs_2293564

2 SubmittersRCV001213323 RCV006406856

NM_004304.5(ALK):c.595G>T (p.Gly199Cys)

SNV
Germline

Chr2:29920065

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594936

rs_747517546

2 SubmittersRCV001207044 RCV002356886

NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)

SNV
Germline

Chr2:29193747

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593595

rs_554599505

2 SubmittersRCV001228482 RCV004032636

NM_004304.5(ALK):c.3135G>A (p.Val1045=)

SNV
Germline

Chr2:29225498

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA44633205

rs_371735276

3 SubmittersRCV001229702 RCV002322107 RCV003238850

NM_004304.5(ALK):c.1760A>G (p.Tyr587Cys)

SNV
Germline

Chr2:29296945

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346466103

rs_1338200771

2 SubmittersRCV001232995 RCV002411859

NM_004304.5(ALK):c.82C>G (p.Arg28Gly)

SNV
Germline

Chr2:29920578

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590726

rs_1060500231

2 SubmittersRCV001231016 RCV005348373

NM_004304.5(ALK):c.46A>G (p.Thr16Ala)

SNV
Germline

Chr2:29920614

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590792

rs_1572504096

2 SubmittersRCV001225351 RCV002339607

NM_002382.5(MAX):c.179G>A (p.Arg60Gln)

SNV
Germline/somatic

Chr14:65078029

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma and paraganglioma
MAX-associated Macrocephaly and Polydactyly syndrome
Polydactyly-macrocephaly syndrome
MAX-related disorder
Condition: not provided
Immature ovarian teratoma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA390035990

rs_2063106020

6 SubmittersRCV001231817 RCV003222266 RCV003595722 RCV005250156 RCV005623400 RCV006254246 RCV006254243 RCV006254244 RCV006254245

NM_004304.5(ALK):c.4633G>A (p.Val1545Ile)

SNV
Germline

Chr2:29193454

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346460558

rs_1296992304

2 SubmittersRCV001246089 RCV005348396

NM_004304.5(ALK):c.4237G>A (p.Val1413Met)

SNV
Germline

Chr2:29193850

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593613

rs_560530815

3 SubmittersRCV001244651 RCV002327593

NM_004304.5(ALK):c.1726G>T (p.Glu576Ter)

SNV
Germline

Chr2:29296979

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594551

rs_750740789

3 SubmittersRCV001239744 RCV005340714

NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)

SNV
Germline

Chr1:10374339

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA582239

rs_758879647

3 SubmittersRCV001304871 RCV004036328 RCV005050324

NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro)

SNV
Germline

Chr2:29193261

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346460093

rs_1668919067

2 SubmittersRCV001304021 RCV002327664

NM_004304.5(ALK):c.3067+9G>T

SNV
Germline

Chr2:29226913

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1241092827

rs_1664016363

3 SubmittersRCV001299727 RCV005910963

NM_004304.5(ALK):c.1634G>A (p.Ser545Asn)

SNV
Germline

Chr2:29318317

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594586

rs_147033307

3 SubmittersRCV001297471 RCV002259101

NM_004304.5(ALK):c.1375C>G (p.Gln459Glu)

SNV
Germline

Chr2:29328389

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346474198

rs_1466204048

3 SubmittersRCV001299091 RCV003153974 RCV005851784

NM_004304.5(ALK):c.487G>A (p.Val163Met)

SNV
Germline

Chr2:29920173

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589952

rs_55697431

2 SubmittersRCV001303811 RCV005851792

NM_004304.5(ALK):c.110C>T (p.Pro37Leu)

SNV
Germline

Chr2:29920550

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590676

rs_1437432300

2 SubmittersRCV001309484 RCV005348431

NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys)

SNV
Germline

Chr2:29193307

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593486

rs_767191161

3 SubmittersRCV001314081 RCV004951501

NM_004304.5(ALK):c.4405C>T (p.Pro1469Ser)

SNV
Germline

Chr2:29193682

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593580

rs_780571098

3 SubmittersRCV001312771 RCV005340773

NM_004304.5(ALK):c.3406T>G (p.Ser1136Ala)

SNV
Germline

Chr2:29222561

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346463927

rs_1669834540

3 SubmittersRCV001321553 RCV002456437 RCV004762081

NM_004304.5(ALK):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr2:29297036

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594561

rs_200364883

2 SubmittersRCV001325194 RCV005340787

NM_004304.5(ALK):c.1229G>A (p.Gly410Glu)

SNV
Germline

Chr2:29383785

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594715

rs_760717114

3 SubmittersRCV001322910 RCV001786473 RCV005582695

NM_004304.5(ALK):c.1155T>C (p.Gly385=)

SNV
Germline

Chr2:29383859

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594734

rs_369505500

2 SubmittersRCV001322720 RCV002357154

NM_004304.5(ALK):c.776G>C (p.Arg259Pro)

SNV
Germline

Chr2:29717589

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594871

rs_138686378

2 SubmittersRCV001324567 RCV004951542

NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)

SNV
Germline

Chr4:41745807

Pathogenic

Neuroblastoma, susceptibility to, 2

Criteria Provided
Single Submitter

CA356736596

rs_1553897738

1 SubmittersRCV001334195

NM_004304.5(ALK):c.2501T>A (p.Val834Glu)

SNV
Germline

Chr2:29232435

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594282

rs_750849080

2 SubmittersRCV001351857 RCV002431995

NM_004304.5(ALK):c.825G>T (p.Glu275Asp)

SNV
Germline

Chr2:29694977

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44976850

rs_924625340

2 SubmittersRCV001337997 RCV005348447

NM_004304.5(ALK):c.254C>T (p.Pro85Leu)

SNV
Germline

Chr2:29920406

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595018

rs_748100651

2 SubmittersRCV001347329 RCV002431978

NM_004304.5(ALK):c.208G>A (p.Asp70Asn)

SNV
Germline

Chr2:29920452

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590483

rs_1365620880

3 SubmittersRCV001348066 RCV005851850

NM_004304.5(ALK):c.4566A>G (p.Ile1522Met)

SNV
Germline

Chr2:29193521

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44634837

rs_902642850

2 SubmittersRCV001365135 RCV005851869

NM_004304.5(ALK):c.2738G>A (p.Trp913Ter)

SNV
Germline

Chr2:29228961

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346469754

rs_1280277994

2 SubmittersRCV001372422 RCV005582747

NM_004304.5(ALK):c.1426G>A (p.Val476Met)

SNV
Germline

Chr2:29320871

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346472710

rs_984951289

2 SubmittersRCV001373577 RCV002395853

NM_004304.5(ALK):c.1084A>G (p.Ile362Val)

SNV
Germline

Chr2:29531985

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587307

rs_1465809492

2 SubmittersRCV001363252 RCV002432023

NM_004304.5(ALK):c.1021A>G (p.Ser341Gly)

SNV
Germline

Chr2:29532048

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594783

rs_755433685

2 SubmittersRCV001365151 RCV005340844

NM_004304.5(ALK):c.989A>G (p.Lys330Arg)

SNV
Germline

Chr2:29532080

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594784

rs_781677582

4 SubmittersRCV001361166 RCV005582730

NM_004304.5(ALK):c.881C>T (p.Pro294Leu)

SNV
Germline

Chr2:29694921

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346586947

rs_1678508737

2 SubmittersRCV001362037 RCV005851864

NM_004304.5(ALK):c.107C>A (p.Pro36Gln)

SNV
Germline

Chr2:29920553

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346590683

rs_773691688

3 SubmittersRCV001371085 RCV002420832 RCV003238363

NM_004304.5(ALK):c.4746C>T (p.Val1582=)

SNV
Germline

Chr2:29193341

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425619109

rs_1237752481

3 SubmittersRCV001408610 RCV003298675 RCV004774445

NM_004304.5(ALK):c.2816-5C>T

SNV
Germline

Chr2:29227677

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594171

rs_532808222

2 SubmittersRCV001395725 RCV005851884

NM_004304.5(ALK):c.1096C>T (p.Leu366=)

SNV
Germline

Chr2:29531973

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
ALK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425517454

rs_1450281991

4 SubmittersRCV001398373 RCV002449092 RCV003920874 RCV004783968

NM_004304.5(ALK):c.630C>G (p.Ala210=)

SNV
Germline

Chr2:29920030

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425524652

rs_1337002578

3 SubmittersRCV001418756 RCV002368312 RCV003325575

NM_004304.5(ALK):c.2727C>T (p.Ala909=)

SNV
Germline

Chr2:29228972

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425436409

rs_1236590521

3 SubmittersRCV001421690 RCV003160690 RCV004779117

NM_004304.5(ALK):c.1311G>A (p.Leu437=)

SNV
Germline

Chr2:29328453

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594684

rs_757241673

3 SubmittersRCV001441854 RCV002384676 RCV003227975

NM_004304.5(ALK):c.1032C>T (p.His344=)

SNV
Germline

Chr2:29532037

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425518233

rs_2148158695

3 SubmittersRCV001444215 RCV002396026 RCV004762145

NM_004304.5(ALK):c.37C>T (p.Leu13=)

SNV
Germline

Chr2:29920623

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425628146

rs_749730757

2 SubmittersRCV001435032 RCV006258593

NM_004304.5(ALK):c.4165-5G>T

SNV
Germline

Chr2:29193927

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1028814160

rs_1668958083

2 SubmittersRCV001451982 RCV005584848

NM_004304.5(ALK):c.2961C>T (p.Cys987=)

SNV
Germline

Chr2:29227028

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425435998

rs_1400037080

2 SubmittersRCV001472759 RCV005340970

NM_004304.5(ALK):c.2028C>T (p.Ile676=)

SNV
Germline

Chr2:29275112

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594462

rs_772973901

3 SubmittersRCV001451109 RCV002421018 RCV004770154

NM_004304.5(ALK):c.1488C>G (p.Pro496=)

SNV
Germline

Chr2:29320809

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425435630

rs_1189878579

2 SubmittersRCV001463107 RCV005348520

NM_004304.5(ALK):c.1386C>T (p.Ala462=)

SNV
Germline

Chr2:29328378

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425436025

rs_2148258238

2 SubmittersRCV001468119 RCV005348524

NM_004304.5(ALK):c.2769G>A (p.Gly923=)

SNV
Germline

Chr2:29228930

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA44635320

rs_75434768

3 SubmittersRCV001487553 RCV002439171 RCV003442885

NM_004304.5(ALK):c.2633-5C>T

SNV
Germline

Chr2:29229071

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44635430

rs_773644242

2 SubmittersRCV001500937 RCV005341006

NM_001365951.3(KIF1B):c.2115+6581G>A

SNV
Germline

Chr1:10303827

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA581282

rs_41274460

7 SubmittersRCV001702996 RCV005396972

NM_198253.3(TERT):c.-124C>T

SNV
Germline/somatic

Chr5:1295113

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 1
Condition: not provided
not specified
Malignant tumor of urinary bladder
Dyskeratosis congenita, autosomal dominant 2
Neoplasm
Sertoli-Leydig cell tumor
oligodendroglioma, 1p 19q codeleted
Desmoplastic small round cell tumor
Malignant glioma
Metastatic melanoma
Medulloblastoma WNT activated
Adenocarcinoma of the large intestine
Medulloblastoma SHH activated
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Diffuse midline glioma, H3 K27M-mutant
Juvenile type testicular granulosa cell tumor
Calcifying nested epithelial stromal tumor of the liver
Atypical teratoid rhabdoid tumor
Neuroblastoma
IDH-wildtype glioblastoma
Hepatosplenic T-cell lymphoma
Ovarian sex cord-stromal tumor
Squamous cell carcinoma of the skin
Pleomorphic xanthoastrocytoma

Criteria Provided
Conflicting Classifications

CA557858711

rs_1242535815

9 SubmittersRCV001728078 RCV002073409 RCV002223145 RCV003332346 RCV003470881 RCV004671424 RCV006254295 RCV006254297 RCV006254286 RCV006254288 RCV006254291 RCV006254292 RCV006254293 RCV006254294 RCV006254289 RCV006254290 RCV006254296 RCV006254298 RCV006254287 RCV006254283 RCV006254299 RCV006254300 RCV006254301 RCV006254284 RCV006254285

NM_001365951.3(KIF1B):c.2115+7081C>T

SNV
Germline

Chr1:10304327

Conflicting classifications of pathogenicity

Condition: not provided
KIF1B-related disorder
not specified
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA581375

rs_376558549

4 SubmittersRCV001812605 RCV003968560 RCV003388047 RCV004785315

NM_004304.5(ALK):c.536G>A (p.Arg179His)

SNV
Germline

Chr2:29920124

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589846

rs_1316424431

2 SubmittersRCV002002123 RCV002344083

NM_004304.5(ALK):c.3358C>A (p.Arg1120=)

SNV
Germline

Chr2:29223343

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425435000

rs_774951734

2 SubmittersRCV001997848 RCV002324415

NM_004304.5(ALK):c.1833G>A (p.Met611Ile)

SNV
Germline

Chr2:29275481

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346480023

rs_1302907379

2 SubmittersRCV001978701 RCV002407132

NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser)

SNV
Germline

Chr2:29193283

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593477

rs_747161831

2 SubmittersRCV001992943 RCV005343197

NM_004304.5(ALK):c.875G>T (p.Arg292Leu)

SNV
Germline

Chr2:29694927

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44976846

rs_149145987

2 SubmittersRCV001925631 RCV005343144

NM_004304.5(ALK):c.724A>G (p.Thr242Ala)

SNV
Germline

Chr2:29717641

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587743

rs_2148307303

2 SubmittersRCV001993725 RCV004044658

NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)

SNV
Germline

Chr1:10365178

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
not specified
Neuroblastoma, susceptibility to, 1
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582080

rs_367778973

4 SubmittersRCV001940667 RCV004044011 RCV004785381 RCV005050461

NM_004304.5(ALK):c.3420C>A (p.Asn1140Lys)

SNV
Germline

Chr2:29222547

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346463783

rs_150785816

2 SubmittersRCV001992766 RCV005854125

NM_004304.5(ALK):c.1689C>G (p.Asn563Lys)

SNV
Germline

Chr2:29297016

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346466521

rs_565743321

2 SubmittersRCV001908875 RCV005343123

NM_004304.5(ALK):c.874C>G (p.Arg292Gly)

SNV
Germline

Chr2:29694928

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594832

rs_201750304

2 SubmittersRCV001982842 RCV006407039

NM_004304.5(ALK):c.1134G>A (p.Met378Ile)

SNV
Germline

Chr2:29531935

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA44957085

rs_989538225

4 SubmittersRCV001898216 RCV004762221 RCV005584940

NM_004304.5(ALK):c.1262C>T (p.Ala421Val)

SNV
Germline

Chr2:29383752

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346585081

rs_1267142388

2 SubmittersRCV001908127 RCV005341111

NM_004304.5(ALK):c.1912+1G>A

SNV
Germline

Chr2:29275401

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346479848

rs_1430369916

2 SubmittersRCV001913271 RCV006407008

NM_004304.5(ALK):c.3743+1G>C

SNV
Germline

Chr2:29213983

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346471043

rs_1333697872

2 SubmittersRCV002005582 RCV005350826

NM_004304.5(ALK):c.4584C>A (p.His1528Gln)

SNV
Germline

Chr2:29193503

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA346460677

rs_746470148

2 SubmittersRCV001948481 RCV003154223

NM_004304.5(ALK):c.1542C>A (p.His514Gln)

SNV
Germline

Chr2:29320755

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346472186

rs_2148250838

2 SubmittersRCV002026267 RCV003161229

NM_004304.5(ALK):c.1060C>G (p.His354Asp)

SNV
Germline

Chr2:29532009

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587361

rs_1490289892

2 SubmittersRCV002039699 RCV002406918

NM_004304.5(ALK):c.415A>G (p.Lys139Glu)

SNV
Germline

Chr2:29920245

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594974

rs_749530596

2 SubmittersRCV001923469 RCV002331448

NM_004304.5(ALK):c.658T>C (p.Phe220Leu)

SNV
Germline

Chr2:29920002

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589596

rs_1484797934

3 SubmittersRCV001985216 RCV005585021

NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)

SNV
Germline

Chr2:29193789

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346462737

rs_1668950412

2 SubmittersRCV001890129 RCV002331393

NM_003924.4(PHOX2B):c.241+1G>A

SNV
Germline

Chr4:41748369

Likely pathogenic

Haddad syndrome
Neuroblastoma, susceptibility to, 2
PHOX2B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA356740736

rs_2153113036

3 SubmittersRCV002048499 RCV003475293 RCV003893084

NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)

SNV
Germline

Chr2:29275449

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346479952

rs_1665516730

2 SubmittersRCV002010032 RCV003303585

NM_004304.5(ALK):c.985T>G (p.Ser329Ala)

SNV
Germline

Chr2:29532084

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587524

rs_1673136181

2 SubmittersRCV001960911 RCV005350806

NM_004304.5(ALK):c.3646-13T>C

SNV
Germline

Chr2:29214094

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573134527

rs_2148159628

2 SubmittersRCV002140879 RCV002256935

NM_004304.5(ALK):c.2488-5G>A

SNV
Germline

Chr2:29232453

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573134546

rs_2148183488

2 SubmittersRCV002159243 RCV006407104

NM_004304.5(ALK):c.2895G>A (p.Leu965=)

SNV
Germline

Chr2:29227593

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
ALK-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594152

rs_528928041

3 SubmittersRCV002176718 RCV003950876 RCV005350890

NM_004304.5(ALK):c.3744-5C>T

SNV
Germline

Chr2:29209883

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593788

rs_750800690

2 SubmittersRCV002209132 RCV002346382

NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)

SNV
Germline

Chr2:29193616

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1593564

rs_775805709

2 SubmittersRCV002328487 RCV003464464

NM_004304.5(ALK):c.4645A>G (p.Arg1549Gly)

SNV
Germline

Chr2:29193442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346460535

rs_773780435

2 SubmittersRCV002330442 RCV003096401

NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)

SNV
Germline

Chr2:29193280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346460169

rs_780454793

2 SubmittersRCV002337917 RCV003102634

NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)

SNV
Germline

Chr1:10374930

Conflicting classifications of pathogenicity

Ovarian cancer
not specified
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1

Criteria Provided
Conflicting Classifications

CA582279

rs_753477704

3 SubmittersRCV003154068 RCV004050921 RCV005050566

NM_004304.5(ALK):c.970A>G (p.Asn324Asp)

SNV
Germline

Chr2:29532099

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA44957101

rs_781771386

2 SubmittersRCV002376683 RCV003633650

NM_004304.5(ALK):c.1879A>G (p.Asn627Asp)

SNV
Germline

Chr2:29275435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346479924

rs_1665516024

2 SubmittersRCV002415254 RCV003774537

NM_004304.5(ALK):c.1829A>G (p.Gln610Arg)

SNV
Germline

Chr2:29275485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346480033

rs_2148215487

2 SubmittersRCV002410491 RCV003097282

NM_004304.5(ALK):c.2703C>G (p.Thr901=)

SNV
Germline

Chr2:29228996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1594215

rs_375296866

2 SubmittersRCV002429020 RCV003633666

NM_004304.5(ALK):c.2874C>T (p.Phe958=)

SNV
Germline

Chr2:29227614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA425436132

rs_1226555490

2 SubmittersRCV002437709 RCV003102810

NM_004304.5(ALK):c.269C>T (p.Ser90Leu)

SNV
Germline

Chr2:29920391

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1595013

rs_34617074

3 SubmittersRCV003063272 RCV004948954 RCV004775285

NM_004304.5(ALK):c.1030C>A (p.His344Asn)

SNV
Germline

Chr2:29532039

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587418

rs_1286011012

2 SubmittersRCV003073784 RCV006425017

NM_004304.5(ALK):c.1552G>T (p.Ala518Ser)

SNV
Germline

Chr2:29318399

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346471452

rs_1666897900

2 SubmittersRCV002628125 RCV005854446

NM_004304.5(ALK):c.1689C>A (p.Asn563Lys)

SNV
Germline

Chr2:29297016

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594559

rs_565743321

3 SubmittersRCV002569777 RCV005585156

NM_004304.5(ALK):c.1039C>A (p.Leu347Met)

SNV
Germline

Chr2:29532030

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587401

rs_747355737

2 SubmittersRCV002649701 RCV004066615

NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)

SNV
Germline

Chr2:29233610

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346472200

rs_2148184506

2 SubmittersRCV002649719 RCV005585193

NM_004304.5(ALK):c.1069C>A (p.Pro357Thr)

SNV
Germline

Chr2:29532000

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587341

rs_2148158612

3 SubmittersRCV002696204 RCV004774719 RCV005854304

NM_004304.5(ALK):c.608G>A (p.Arg203Lys)

SNV
Germline

Chr2:29920052

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589698

rs_2148442883

2 SubmittersRCV002765391 RCV005343484

NM_004304.5(ALK):c.926C>A (p.Ala309Glu)

SNV
Germline

Chr2:29694876

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594813

rs_748017801

4 SubmittersRCV002801358 RCV004064865

NM_004304.5(ALK):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr2:29920179

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589963

rs_2465865784

2 SubmittersRCV002914084 RCV006424986

NM_004304.5(ALK):c.1613C>A (p.Thr538Lys)

SNV
Germline

Chr2:29318338

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346471012

rs_775302364

2 SubmittersRCV002927937 RCV005343531

NM_004304.5(ALK):c.4493A>G (p.Lys1498Arg)

SNV
Germline

Chr2:29193594

Conflicting classifications of pathogenicity

Ovarian cancer
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346461245

rs_1475116674

2 SubmittersRCV003154772 RCV005060991

NM_004304.5(ALK):c.1441A>T (p.Asn481Tyr)

SNV
Germline

Chr2:29320856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA346472648

rs_2465435723

2 SubmittersRCV003172212 RCV006473854

NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)

SNV
Unknown

Chr4:41746040

Likely pathogenic

Neuroblastoma, susceptibility to, 2

Criteria Provided
Single Submitter

CA356737303

rs_2552096830

1 SubmittersRCV003472440

NM_001365951.3(KIF1B):c.184-6T>G

SNV
Germline

Chr1:10258487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA580647

rs_761723354

2 SubmittersRCV003582456 RCV005022015

NM_004304.5(ALK):c.58G>A (p.Gly20Ser)

SNV
Germline

Chr2:29920602

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590773

rs_1667970548

3 SubmittersRCV003518626 RCV004823167 RCV005854519

NM_004304.5(ALK):c.3414G>A (p.Met1138Ile)

SNV
Germline

Chr2:29222553

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593961

rs_773241951

2 SubmittersRCV003518743 RCV004950438

NM_004304.5(ALK):c.4074-5T>C

SNV
Germline

Chr2:29196865

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1241074521

rs_1669035909

2 SubmittersRCV003517035 RCV004634296

NM_004304.5(ALK):c.1062C>A (p.His354Gln)

SNV
Germline

Chr2:29532007

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346587355

rs_749474186

2 SubmittersRCV003634717 RCV005854540

NM_004304.5(ALK):c.530G>A (p.Trp177Ter)

SNV
Germline

Chr2:29920130

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346589861

rs_2148443048

2 SubmittersRCV003832393 RCV005856575

NM_004304.5(ALK):c.1747C>A (p.His583Asn)

SNV
Germline

Chr2:29296958

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346466176

rs_1666202984

3 SubmittersRCV003868472 RCV005856588

NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)

SNV
Germline

Chr2:29193480

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346460610

rs_2465873305

3 SubmittersRCV003870386 RCV006428140

NM_004304.5(ALK):c.47C>T (p.Thr16Met)

SNV
Germline

Chr2:29920613

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1595059

rs_542229113

2 SubmittersRCV003876874 RCV004950754

NM_004304.5(ALK):c.786T>C (p.Tyr262=)

SNV
Germline

Chr2:29717579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA425521653

rs_1345881154

2 SubmittersRCV004516692 RCV005100472

NM_004304.5(ALK):c.1930A>G (p.Ile644Val)

SNV
Germline

Chr2:29275210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004635653 RCV005102226

NM_004304.5(ALK):c.4078C>A (p.Arg1360=)

SNV
Germline

Chr2:29196856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949636 RCV006565691

NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)

SNV
Germline

Chr1:10360929

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004939112 RCV005040858 RCV005110411

NM_004304.5(ALK):c.1833G>C (p.Met611Ile)

SNV
Germline

Chr2:29275481

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005064604 RCV005587612

NM_004304.5(ALK):c.4502G>A (p.Ser1501Asn)

SNV
Germline

Chr2:29193585

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005079307 RCV005336076

NM_004304.5(ALK):c.4596C>A (p.Asn1532Lys)

SNV
Germline

Chr2:29193491

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005124343 RCV005856676

NM_004304.5(ALK):c.922G>C (p.Gly308Arg)

SNV
Germline

Chr2:29694880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005353768 RCV006474967

NM_004304.5(ALK):c.2748G>A (p.Glu916=)

SNV
Germline

Chr2:29228951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005351251 RCV006567389

NM_001365951.3(KIF1B):c.2115+6523G>A

SNV
Germline

Chr1:10303769

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2A1
Neuroblastoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005398203 RCV006264481

NM_004304.5(ALK):c.448A>G (p.Ile150Val)

SNV
Germline

Chr2:29920212

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005588417 RCV006613571

NM_004304.5(ALK):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr2:29251217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005855183 RCV006489970