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 Charcot-Marie-Tooth disease Malignant tumor of breast Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA116990	rs_121908162	8 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001173590 RCV001269366 RCV003237410 RCV004018562
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_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	SNV Germline/somatic	Chr12:112450406	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia RASopathy Noonan syndrome Condition: not provided Squamous cell lung carcinoma Neuroblastoma Astrocytoma Multiple myeloma Neoplasm of the large intestine Malignant neoplastic disease PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA123038	rs_121918464	11 SubmittersRCV000014264 RCV000033476 RCV000156974 RCV000212892 RCV000433549 RCV000422541 RCV000432364 RCV000422851 RCV000439757 RCV001254876 RCV004545728
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	SNV Germline/somatic	Chr12:112450407	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia Condition: not provided Astrocytoma Neuroblastoma Neoplasm of the large intestine Squamous cell lung carcinoma Multiple myeloma RASopathy	Criteria Provided Conflicting Classifications	CA123044	rs_121918465	6 SubmittersRCV000014266 RCV000159046 RCV000420699 RCV000437713 RCV000419574 RCV000427060 RCV000437931 RCV002513040
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	SNV Germline/somatic	Chr12:112450407	Pathogenic	Juvenile myelomonocytic leukemia Condition: not provided Astrocytoma Neuroblastoma Neoplasm of the large intestine Squamous cell lung carcinoma Multiple myeloma	Criteria Provided Single Submitter	CA123047	rs_121918465	3 SubmittersRCV000014267 RCV000033477 RCV000424761 RCV000424995 RCV000432192 RCV000443046 RCV000444034
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	SNV Germline/somatic	Chr2:29209798	Pathogenic	Neuroblastoma, susceptibility to, 3 Breast neoplasm Neuroblastoma Neoplasm of brain Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341482	rs_113994087	8 SubmittersRCV000019709 RCV000423720 RCV000432041 RCV000440978 RCV001268655 RCV002354167
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	SNV Germline/somatic	Chr2:29222584	Pathogenic/Likely pathogenic; risk factor	Neoplasm of brain Neuroblastoma Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA341484	rs_113994088	4 SubmittersRCV000421391 RCV000438595 RCV000019710
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	SNV Germline/somatic	Chr2:29220776	Pathogenic	Neoplasm of brain Neuroblastoma Neuroblastoma, susceptibility to, 3	Criteria Provided Single Submitter	CA341486	rs_113994089	4 SubmittersRCV000422453 RCV000427890 RCV000019711
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)	SNV Germline/somatic	Chr2:29222407	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Neuroblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA341488	rs_113994091	6 SubmittersRCV000019712 RCV000439097 RCV001020341
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	Criteria Provided Conflicting Classifications	CA342013	rs_113994090	5 SubmittersRCV000020581 RCV000997104 RCV003153305
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 Neuroblastoma not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA025874	rs_80359143	15 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000761134 RCV000505714 RCV001082957 RCV000770734
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)	SNV Germline/somatic	Chr12:112450395	Conflicting classifications of pathogenicity	B-cell chronic lymphocytic leukemia Condition: not provided Neuroblastoma Acute myeloid leukemia Neoplasm of brain RASopathy	Criteria Provided Conflicting Classifications	CA215451	rs_121918454	4 SubmittersRCV000431335 RCV000413699 RCV000425022 RCV000434875 RCV000420663 RCV003654183
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)	SNV Germline/somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA345001	rs_281864719	3 SubmittersRCV000055894 RCV000434983
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)	SNV Germline/somatic	Chr2:29213994	Pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA345003	rs_281864720	2 SubmittersRCV000055895 RCV000426209
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr1:114713909	Conflicting classifications of pathogenicity	Large congenital melanocytic nevus Neurocutaneous melanocytosis Non-small cell lung carcinoma Nasopharyngeal neoplasm Glioblastoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neuroblastoma Multiple myeloma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of the large intestine Vascular Tumors Including Pyogenic Granuloma Ras Inhibitor response RASopathy Condition: not provided B-cell chronic lymphocytic leukemia Acute myeloid leukemia Adrenal cortex carcinoma Melanoma Neoplasm of brain Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA151263	rs_121913254	7 SubmittersRCV000114746 RCV000144964 RCV000425440 RCV000426976 RCV000428264 RCV000428499 RCV000436588 RCV000436806 RCV000443974 RCV000423656 RCV000444882 RCV000423012 RCV000433274 RCV000441348 RCV000444538 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV000418269 RCV000418907 RCV000431313 RCV000434388 RCV000435041 RCV000441559
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	6 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 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156617	rs_140733978	7 SubmittersRCV000119971 RCV000475908 RCV002266923 RCV002257413 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	5 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	7 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	6 SubmittersRCV000119982 RCV000731883 RCV001087719 RCV002257416
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)	SNV Germline	Chr2:29193832	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA156653	rs_56181542	7 SubmittersRCV000119983 RCV000234168 RCV001022153 RCV003237719 RCV003952584
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	9 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136
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	Criteria Provided Conflicting Classifications	CA156662	rs_144030155	5 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611
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	Criteria Provided Conflicting Classifications	CA161478	rs_587778606	5 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	SNV Germline/somatic	Chr17:7673778	Pathogenic	Hereditary cancer-predisposing syndrome Neuroblastoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Pancreatic adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000450	rs_587781525	7 SubmittersRCV000129516 RCV000425885 RCV000426980 RCV000428043 RCV000434395 RCV000435472 RCV000436592 RCV000418481 RCV000423760 RCV000431187 RCV000423959 RCV000433596 RCV000441016 RCV000442068 RCV000438583 RCV000442813 RCV000418257 RCV000429146 RCV000436807 RCV000633367 RCV002288626 RCV003237737
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	SNV Germline	Chr1:10361732	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Neuroblastoma not specified	Criteria Provided Conflicting Classifications	CA233113	rs_200561798	9 SubmittersRCV000143821 RCV001080346 RCV001174215 RCV001098766 RCV004019755
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	SNV Germline/somatic	Chr12:112450394	Pathogenic/Likely pathogenic	RASopathy Neuroblastoma Neoplasm of brain Acute myeloid leukemia B-cell chronic lymphocytic leukemia Condition: not provided Noonan syndrome Juvenile myelomonocytic leukemia Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180706	rs_121918453	8 SubmittersRCV000154367 RCV000417864 RCV000425277 RCV000443279 RCV000435950 RCV000680626 RCV000824740 RCV000995620 RCV001813395
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	SNV Germline/somatic	Chr17:7673778	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Uterine carcinosarcoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Squamous cell carcinoma of the head and neck Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Lung adenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma Hepatocellular carcinoma Neuroblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000452	rs_587781525	5 SubmittersRCV000161072 RCV000215048 RCV000418100 RCV000428503 RCV000426125 RCV000434194 RCV000432892 RCV000435682 RCV000435739 RCV000440916 RCV000442104 RCV000417569 RCV000423186 RCV000425401 RCV000423894 RCV000431328 RCV000433464 RCV000438736 RCV000443096 RCV000441595 RCV000799325 RCV002288706
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 Neuroblastoma	No Assertion Criteria Provided	CA279600	rs_863225285	2 SubmittersRCV000201889 RCV000421376
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 RCV000444691
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)	SNV Somatic	Chr2:29213994	Pathogenic/Likely pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA277846	rs_281864720	2 SubmittersRCV000201924 RCV000439786
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/Likely pathogenic	Neuroblastoma, susceptibility to, 3 Lung adenocarcinoma Neuroblastoma	No Assertion Criteria Provided	CA279616	rs_863225281	2 SubmittersRCV000201904 RCV000442440 RCV000427324
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic/Likely pathogenic	Neuroblastoma, susceptibility to, 3 Non-small cell lung carcinoma Lung adenocarcinoma Benign Soft Tissue Neoplasm of Uncertain Differentiation Neuroblastoma	No Assertion Criteria Provided	CA279586	rs_863225281	2 SubmittersRCV000201882 RCV000418576 RCV000426846 RCV000435780 RCV000444781
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)	SNV Somatic	Chr2:29220831	Pathogenic/Likely pathogenic	Neuroblastoma, susceptibility to, 3 Neuroblastoma	No Assertion Criteria Provided	CA277829	rs_281864719	2 SubmittersRCV000201883 RCV000421904
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 RCV000417766
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	SNV Somatic	Chr8:38417331	Pathogenic	Encephalocraniocutaneous lipomatosis Gastric adenocarcinoma Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor	Criteria Provided Multiple Submitters No Conflicts	CA357830	rs_779707422	6 SubmittersRCV000210485 RCV000422315 RCV000428878 RCV000429528 RCV000439566 RCV000440238 RCV000487433
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	Criteria Provided Conflicting Classifications	CA1593605	rs_749418931	4 SubmittersRCV000228085 RCV001566391 RCV003417825
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	Criteria Provided Conflicting Classifications	CA1594381	rs_762395127	3 SubmittersRCV000230160 RCV002429113
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)	SNV Germline	Chr2:29251160	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 not specified Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594424	rs_147858673	7 SubmittersRCV000226263 RCV000507604 RCV002256160 RCV002305468 RCV003955342
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)	SNV Germline	Chr2:29328388	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594674	rs_773380015	3 SubmittersRCV000231007 RCV003417821 RCV002378996
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	Criteria Provided Conflicting Classifications	CA1594770	rs_773367495	3 SubmittersRCV000230394 RCV002411042
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	Criteria Provided Conflicting Classifications	CA1594963	rs_74774946	7 SubmittersRCV000229990 RCV001022915 RCV001824304
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)	SNV Germline	Chr2:29920350	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595006	rs_576431612	5 SubmittersRCV000229111 RCV002257559 RCV002307461
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	SNV Germline	Chr4:41745920	Conflicting classifications of pathogenicity	Congenital central hypoventilation Hereditary cancer-predisposing syndrome Haddad syndrome Neuroblastoma, susceptibility to, 2 PHOX2B-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2901407	rs_138545772	7 SubmittersRCV000229358 RCV001017576 RCV001391323 RCV001145118 RCV003919957 RCV001753699
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)	SNV Germline	Chr1:10282440	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications	CA580938	rs_763679404	3 SubmittersRCV000352133 RCV000405571 RCV004021333
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.315T>C (p.Tyr105=)	SNV Germline	Chr1:10258624	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Pheochromocytoma Neuroblastoma not specified	Criteria Provided Conflicting Classifications	CA580664	rs_144889528	3 SubmittersRCV000276770 RCV000327165 RCV000371287 RCV004021329
NM_001365951.3(KIF1B):c.364-15A>G	SNV Germline	Chr1:10261890	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA580684	rs_771929965	2 SubmittersRCV000322651 RCV002522047
NM_001365951.3(KIF1B):c.364-10A>G	SNV Germline	Chr1:10261895	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10607191	rs_886044966	2 SubmittersRCV000337868 RCV000867679
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	Neuroblastoma Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease Condition: not provided not specified Meniere disease	Criteria Provided Conflicting Classifications	CA580622	rs_143654307	6 SubmittersRCV000347279 RCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840
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.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 Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 not specified KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA582184	rs_145969842	5 SubmittersRCV000373752 RCV000469029 RCV003485573 RCV004021350 RCV003417930
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	Criteria Provided Conflicting Classifications	CA582296	rs_146436697	4 SubmittersRCV000306164 RCV000467676 RCV003967815 RCV004021351
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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593574	rs_141010693	4 SubmittersRCV000469389 RCV002291619 RCV002255369
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	Criteria Provided Conflicting Classifications	CA1593586	rs_372612147	3 SubmittersRCV000555867 RCV002256210
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	Criteria Provided Conflicting Classifications	CA1595007	rs_576431612	3 SubmittersRCV000530879 RCV002323541
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.3839C>T (p.Ala1280Val)	SNV Germline	Chr2:29207270	Conflicting classifications of pathogenicity	Neuroblastoma Susceptibility Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1593742	rs_74716434	6 SubmittersRCV000318323 RCV000569836 RCV000540430 RCV003441844
NM_004304.5(ALK):c.2901C>A (p.Thr967=)	SNV Germline	Chr2:29227587	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10613632	rs_886055930	4 SubmittersRCV000407364 RCV002436199 RCV003441845
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.3173-11C>T	SNV Germline	Chr2:29223539	Conflicting classifications of pathogenicity	Neuroblastoma Susceptibility not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594044	rs_79339096	5 SubmittersRCV000289200 RCV000418057 RCV001000138 RCV002257646
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	Criteria Provided Conflicting Classifications	CA1594812	rs_367712624	3 SubmittersRCV000551970 RCV002255145
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	6 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 Haddad syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA2901428	rs_747626591	8 SubmittersRCV000268582 RCV000323710 RCV001507229 RCV003228923 RCV001026770 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	Criteria Provided Conflicting Classifications	CA2901451	rs_751829128	3 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240
NM_004304.5(ALK):c.3735C>G (p.Phe1245Leu)	SNV Somatic	Chr2:29213992	Pathogenic	Neuroblastoma	No Assertion Criteria Provided	CA16602368	rs_863225284	1 SubmittersRCV000434421
NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys)	SNV Germline/somatic	Chr2:29220830	Likely pathogenic	Neuroblastoma ALK-related disorder	Criteria Provided Single Submitter	CA16602370	rs_1057519697	2 SubmittersRCV000425764 RCV003401411
NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn)	SNV Somatic	Chr2:29222347	Pathogenic	Neuroblastoma	No Assertion Criteria Provided	CA16602371	rs_1057519698	1 SubmittersRCV000428427
NM_002467.6(MYC):c.218C>T (p.Thr73Ile)	SNV Somatic	Chr8:127738435	Likely pathogenic	Non-Hodgkin lymphoma Neoplasm Lung adenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Neuroblastoma	No Assertion Criteria Provided	CA16602746	rs_756091827	1 SubmittersRCV000419562 RCV000423713 RCV000430246 RCV000434207 RCV000440950 RCV000441422
NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu)	SNV Somatic	Chr2:29209798	Likely pathogenic	Breast neoplasm Neuroblastoma	No Assertion Criteria Provided	CA16602804	rs_113994087	1 SubmittersRCV000418856 RCV000436534
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)	SNV Somatic	Chr8:38417333	Likely pathogenic	Neuroblastoma Astrocytoma Brainstem glioma Medulloblastoma Gastric adenocarcinoma	No Assertion Criteria Provided	CA16602864	rs_1057519898	1 SubmittersRCV000425019 RCV000424432 RCV000435153 RCV000443693 RCV000443832
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)	SNV Somatic	Chr8:38417879	Likely pathogenic	Gastric adenocarcinoma Medulloblastoma Brainstem glioma Astrocytoma Neuroblastoma	No Assertion Criteria Provided	CA16602865	rs_1057519899	1 SubmittersRCV000419230 RCV000418590 RCV000429290 RCV000435727 RCV000436467
NM_002467.6(MYC):c.217A>C (p.Thr73Pro)	SNV Somatic	Chr8:127738434	Likely pathogenic	Neuroblastoma Non-Hodgkin lymphoma Malignant melanoma of skin Carcinoma of esophagus Lung adenocarcinoma	No Assertion Criteria Provided	CA4875250	rs_750664148	1 SubmittersRCV000420006 RCV000426528 RCV000437207 RCV000438328 RCV000445053
NM_002467.6(MYC):c.173C>T (p.Pro58Leu)	SNV Somatic	Chr8:127738390	Likely pathogenic	Non-Hodgkin lymphoma Lung adenocarcinoma Carcinoma of esophagus Neuroblastoma Malignant melanoma of skin	No Assertion Criteria Provided	CA16602893	rs_1057519918	1 SubmittersRCV000418915 RCV000427867 RCV000428982 RCV000436178 RCV000438593
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	SNV Somatic	Chr3:179199156	Pathogenic	Gastric adenocarcinoma Neuroblastoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Neoplasm of the large intestine Glioblastoma Multiple myeloma Neoplasm of uterine cervix Lung adenocarcinoma Neoplasm of brain Breast neoplasm Cowden syndrome 5	Criteria Provided Single Submitter	CA16602916	rs_1057519933	2 SubmittersRCV000421413 RCV000421221 RCV000425975 RCV000426940 RCV000431459 RCV000432535 RCV000436960 RCV000437184 RCV000442136 RCV000442739 RCV000442943 RCV003147452
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	SNV Somatic	Chr3:179199157	Likely pathogenic	Neoplasm of uterine cervix Lung adenocarcinoma Gastric adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Multiple myeloma Glioblastoma Neoplasm of the large intestine Neuroblastoma Neoplasm of brain Malignant neoplasm of body of uterus	No Assertion Criteria Provided	CA16602918	rs_1057519935	1 SubmittersRCV000417780 RCV000423063 RCV000424501 RCV000426788 RCV000427854 RCV000433335 RCV000437845 RCV000438066 RCV000442310 RCV000443094 RCV000443132
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	SNV Somatic	Chr12:112450395	Likely pathogenic	Acute myeloid leukemia B-cell chronic lymphocytic leukemia Neoplasm of brain Neuroblastoma	No Assertion Criteria Provided	CA16602941	rs_121918454	1 SubmittersRCV000420417 RCV000430256 RCV000440942 RCV000441142
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the skin Malignant melanoma of skin Malignant neoplasm of body of uterus Neuroblastoma Uterine carcinosarcoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603009	rs_764146326	3 SubmittersRCV000419187 RCV000419880 RCV000421597 RCV000422382 RCV000422971 RCV000424398 RCV000427237 RCV000429763 RCV000431847 RCV000430133 RCV000432647 RCV000437480 RCV000438115 RCV000436876 RCV000440017 RCV000442319 RCV000442636 RCV000443331 RCV000792342 RCV004022209
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Multiple myeloma Hepatocellular carcinoma Neuroblastoma Glioblastoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the skin Breast neoplasm Malignant melanoma of skin Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA001503	rs_764146326	5 SubmittersRCV000418705 RCV000421233 RCV000422096 RCV000426863 RCV000424002 RCV000428837 RCV000429505 RCV000428968 RCV000426180 RCV000434267 RCV000431489 RCV000437075 RCV000439749 RCV000442054 RCV000443405 RCV000443489 RCV000436424 RCV000438896 RCV000785452 RCV000824609 RCV002446642
NM_000546.6(TP53):c.841G>C (p.Asp281His)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Malignant melanoma of skin Squamous cell lung carcinoma Neuroblastoma Squamous cell carcinoma of the skin Multiple myeloma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Breast neoplasm Hepatocellular carcinoma Glioblastoma Gallbladder cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603010	rs_764146326	5 SubmittersRCV000420094 RCV000418744 RCV000421295 RCV000419869 RCV000422034 RCV000423682 RCV000428355 RCV000427301 RCV000429459 RCV000427507 RCV000429671 RCV000434610 RCV000437082 RCV000436837 RCV000439019 RCV000438193 RCV000439212 RCV000443566 RCV001292542 RCV001306199 RCV002446644 RCV004022210
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	SNV Somatic	Chr17:7673778	Likely pathogenic	Uterine carcinosarcoma Gastric adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Multiple myeloma Pancreatic adenocarcinoma Neuroblastoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Malignant melanoma of skin Glioblastoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA16603011	rs_587781525	2 SubmittersRCV000417517 RCV000419849 RCV000420104 RCV000422679 RCV000424893 RCV000427537 RCV000425979 RCV000429708 RCV000430790 RCV000433406 RCV000435611 RCV000435784 RCV000438210 RCV000440361 RCV000440602 RCV000442214 RCV000443934 RCV000442965 RCV003463826
NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu)	SNV Somatic	Chr2:29213994	Likely pathogenic	Neuroblastoma	No Assertion Criteria Provided	CA16603122	rs_281864720	1 SubmittersRCV000432633
NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)	SNV Somatic	Chr2:29222362	Likely pathogenic	Neuroblastoma	No Assertion Criteria Provided	CA16603123	rs_1057520019	1 SubmittersRCV000422585
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	SNV Germline	Chr2:29193292	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1593480	rs_373037272	6 SubmittersRCV000470897 RCV002298594
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.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.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	Criteria Provided Conflicting Classifications	CA1594872	rs_771593278	5 SubmittersRCV000468417 RCV002256243 RCV003226926
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.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	3 SubmittersRCV000467087 RCV002256282 RCV003153651
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	4 SubmittersRCV000462396 RCV000482658 RCV002329015
NM_004304.5(ALK):c.4425C>T (p.His1475=)	SNV Germline	Chr2:29193662	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1593575	rs_139039449	6 SubmittersRCV000459909 RCV002257728 RCV003409640 RCV003899940
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	4 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	5 SubmittersRCV000467869 RCV000571840 RCV002473007
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	Criteria Provided Conflicting Classifications	CA1594830	rs_149145987	3 SubmittersRCV000473638 RCV002256241
NM_004304.5(ALK):c.872G>A (p.Arg291His)	SNV Germline	Chr2:29694930	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer	Criteria Provided Conflicting Classifications	CA1594833	rs_572340007	4 SubmittersRCV000465368 RCV003153577
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	Criteria Provided Conflicting Classifications	CA1593478	rs_376702277	3 SubmittersRCV000475870 RCV002339111
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_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	Criteria Provided Conflicting Classifications	CA580866	rs_150411706	4 SubmittersRCV000560282 RCV001099772 RCV003980040 RCV004024390
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.2269G>A (p.Val757Met)	SNV Germline	Chr2:29239766	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA1594372	rs_371005946	4 SubmittersRCV000528414 RCV003225087 RCV003153718
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.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	7 SubmittersRCV000560261 RCV002258962 RCV003325492
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	Criteria Provided Conflicting Classifications	CA1593623	rs_757615099	5 SubmittersRCV000553113 RCV003153719 RCV004024161
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)	SNV Germline	Chr2:29920520	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1595037	rs_541315214	4 SubmittersRCV000551780 RCV001356620
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	Criteria Provided Conflicting Classifications	CA1594119	rs_761999849	3 SubmittersRCV000540706 RCV002257823
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	Criteria Provided Conflicting Classifications	CA1594441	rs_370435082	4 SubmittersRCV000558370 RCV002420486
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	6 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	Criteria Provided Conflicting Classifications	CA1594727	rs_779282861	4 SubmittersRCV000542876 RCV002255453
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.3291C>T (p.Cys1097=)	SNV Germline	Chr2:29223410	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594015	rs_370170353	6 SubmittersRCV000731882 RCV001019712 RCV001087799 RCV003935486
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.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	7 SubmittersRCV000525971 RCV002256381 RCV003313100 RCV003236815 RCV003962544
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.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	Hereditary cancer-predisposing syndrome Haddad syndrome Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901525	rs_748614674	3 SubmittersRCV001021436 RCV000536791 RCV003476288
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	5 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 Neuroblastoma, susceptibility to, 2 Congenital central hypoventilation 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.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.822G>A (p.Leu274=)	SNV Germline	Chr2:29694980	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA425520848	rs_1265006535	2 SubmittersRCV000647384
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	4 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	2 SubmittersRCV000647440 RCV002257901
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	Criteria Provided Conflicting Classifications	CA1594995	rs_758250431	4 SubmittersRCV000647455 RCV003153787 RCV004025737
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	4 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 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594036	rs_138178848	4 SubmittersRCV000647512 RCV002449064 RCV002307573 RCV003892468
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	Criteria Provided Conflicting Classifications	CA1594537	rs_754810505	5 SubmittersRCV000647463 RCV002406428 RCV003106011
NM_004304.5(ALK):c.84C>T (p.Arg28=)	SNV Germline	Chr2:29920576	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425627819	rs_1355709394	2 SubmittersRCV000647439 RCV002449061
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.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		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		rs_915983602	4 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		rs_1216426444	1 SubmittersRCV000656367 RCV000656369
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	Criteria Provided Conflicting Classifications		rs_753763148	3 SubmittersRCV000686469 RCV001021707
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		rs_550608288	3 SubmittersRCV000694546 RCV002369875
NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter)	SNV Germline	Chr19:10986368	Likely pathogenic	Neuroblastoma	Criteria Provided Single Submitter		rs_1469271544	1 SubmittersRCV000722032
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)	SNV Germline	Chr9:95508307	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_778460384	5 SubmittersRCV000828033 RCV000761070 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	Criteria Provided Conflicting Classifications		rs_200341945	3 SubmittersRCV000800831 RCV001775060 RCV003975309
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		rs_761343609	4 SubmittersRCV000795601 RCV001097598 RCV002291698 RCV004027530
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		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		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	Criteria Provided Conflicting Classifications		rs_377129811	2 SubmittersRCV000799861 RCV003442083
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		rs_761459938	4 SubmittersRCV000821604 RCV002363166 RCV003225131
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		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	Criteria Provided Conflicting Classifications		rs_61744521	2 SubmittersRCV000811023 RCV003153851
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		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		rs_765139446	2 SubmittersRCV000810248 RCV002363090
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	Criteria Provided Conflicting Classifications		rs_758537157	3 SubmittersRCV000801283 RCV002424849
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		rs_762234006	4 SubmittersRCV002233854 RCV002370071 RCV003130042 RCV003472339
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)	SNV Germline	Chr1:10334529	Conflicting classifications of pathogenicity	Neuroblastoma Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_749154726	5 SubmittersRCV001098680 RCV001429972 RCV001172600 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		rs_758502850	3 SubmittersRCV000870214 RCV002336819
NM_004304.5(ALK):c.2736G>A (p.Lys912=)	SNV Germline	Chr2:29228963	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications		rs_1489025810	2 SubmittersRCV000876449 RCV001497944
NM_004304.5(ALK):c.3939-5C>T	SNV Germline	Chr2:29197681	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications		rs_1573084845	2 SubmittersRCV001021474 RCV000877092
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		rs_372037531	3 SubmittersRCV000946088 RCV002258070
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		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		rs_752052590	3 SubmittersRCV001020010 RCV001039956
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		rs_201759867	2 SubmittersRCV001071336 RCV002327371
NM_004304.5(ALK):c.3663G>A (p.Leu1221=)	SNV Germline	Chr2:29214064	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_751889072	2 SubmittersRCV001037935 RCV002454274
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		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		rs_768229646	3 SubmittersRCV001058170 RCV002355053
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		rs_1165737526	2 SubmittersRCV001046255 RCV004031428
NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)	SNV Germline	Chr1:10256299	Conflicting classifications of pathogenicity	Neuroblastoma not specified	Criteria Provided Conflicting Classifications		rs_752674254	2 SubmittersRCV001097597 RCV004032027
NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)	SNV Germline	Chr1:10258573	Conflicting classifications of pathogenicity	Neuroblastoma not specified	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_141637645	3 SubmittersRCV001097982 RCV002067747 RCV004032034
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		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		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		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	Criteria Provided Conflicting Classifications		rs_754234374	3 SubmittersRCV001098767 RCV001856337 RCV004032043
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		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		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		rs_1397719362	2 SubmittersRCV001097981 RCV003744730
NM_001365951.3(KIF1B):c.3513+7G>T	SNV Germline	Chr1:10339866	Conflicting classifications of pathogenicity	Neuroblastoma KIF1B-related disorder	Criteria Provided Conflicting Classifications		rs_1174031782	2 SubmittersRCV001100482 RCV003938443
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		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	Criteria Provided Conflicting Classifications		rs_1278070199	2 SubmittersRCV001143782
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)	SNV Germline	Chr2:29296985	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications		rs_762358335	2 SubmittersRCV001143783
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		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		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		rs_764470906	4 SubmittersRCV001147071 RCV001147072 RCV001430876 RCV001811674 RCV002379658
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)	SNV Germline	Chr4:41746103	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications		rs_759792321	3 SubmittersRCV001219764 RCV002365993 RCV004570509
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		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		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		rs_371735276	3 SubmittersRCV001229702 RCV002322107 RCV003238850
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		rs_1572504096	2 SubmittersRCV001225351 RCV002339607
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		rs_560530815	3 SubmittersRCV001244651 RCV002327593
NM_004304.5(ALK):c.1375C>G (p.Gln459Glu)	SNV Germline	Chr2:29328389	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1466204048	2 SubmittersRCV001299091 RCV003153974
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		rs_369505500	2 SubmittersRCV001322720 RCV002357154
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	SNV Germline	Chr4:41745807	Pathogenic	Neuroblastoma, susceptibility to, 2	Criteria Provided Single Submitter		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		rs_750849080	2 SubmittersRCV001351857 RCV002431995
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		rs_748100651	2 SubmittersRCV001347329 RCV002431978
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)	SNV Germline	Chr2:29531985	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications		rs_1465809492	2 SubmittersRCV002432023 RCV001363252
NM_004304.5(ALK):c.630C>G (p.Ala210=)	SNV Germline	Chr2:29920030	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1337002578	3 SubmittersRCV001418756 RCV003325575 RCV002368312
NM_004304.5(ALK):c.1311G>A (p.Leu437=)	SNV Germline	Chr2:29328453	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_757241673	3 SubmittersRCV001441854 RCV003227975 RCV002384676
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		rs_75434768	3 SubmittersRCV001487553 RCV002439171 RCV003442885
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		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		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		rs_1302907379	2 SubmittersRCV001978701 RCV002407132
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		rs_2148307303	2 SubmittersRCV001993725 RCV004044658
NM_004304.5(ALK):c.1428G>A (p.Val476=)	SNV Germline	Chr2:29320869	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1667017111	2 SubmittersRCV002050074 RCV002388691
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		rs_746470148	2 SubmittersRCV001948481 RCV003154223
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		rs_749530596	2 SubmittersRCV001923469 RCV002331448
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		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		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		rs_1665516730	2 SubmittersRCV002010032 RCV003303585
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		rs_2148159628	2 SubmittersRCV002140879 RCV002256935
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		rs_750800690	2 SubmittersRCV002209132 RCV002346382
NM_004304.5(ALK):c.4272C>T (p.Leu1424=)	SNV Germline	Chr2:29193815	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV002330042 RCV003102553
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			2 SubmittersRCV002328487 RCV003464464
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			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			2 SubmittersRCV002437709 RCV003102810
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			3 SubmittersRCV002801358 RCV004064865
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)	SNV Unknown	Chr4:41746040	Likely pathogenic	Neuroblastoma, susceptibility to, 2	Criteria Provided Single Submitter			1 SubmittersRCV003472440

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
Charcot-Marie-Tooth disease
Malignant tumor of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA116990

rs_121908162

8 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001173590 RCV001269366 RCV003237410 RCV004018562

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_002834.5(PTPN11):c.226G>A (p.Glu76Lys)

SNV
Germline/somatic

Chr12:112450406

Conflicting classifications of pathogenicity

Juvenile myelomonocytic leukemia
RASopathy
Noonan syndrome
Condition: not provided
Squamous cell lung carcinoma
Neuroblastoma
Astrocytoma
Multiple myeloma
Neoplasm of the large intestine
Malignant neoplastic disease
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA123038

rs_121918464

11 SubmittersRCV000014264 RCV000033476 RCV000156974 RCV000212892 RCV000433549 RCV000422541 RCV000432364 RCV000422851 RCV000439757 RCV001254876 RCV004545728

NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)

SNV
Germline/somatic

Chr12:112450407

Conflicting classifications of pathogenicity

Juvenile myelomonocytic leukemia
Condition: not provided
Astrocytoma
Neuroblastoma
Neoplasm of the large intestine
Squamous cell lung carcinoma
Multiple myeloma
RASopathy

Criteria Provided
Conflicting Classifications

CA123044

rs_121918465

6 SubmittersRCV000014266 RCV000159046 RCV000420699 RCV000437713 RCV000419574 RCV000427060 RCV000437931 RCV002513040

NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

SNV
Germline/somatic

Chr12:112450407

Pathogenic

Juvenile myelomonocytic leukemia
Condition: not provided
Astrocytoma
Neuroblastoma
Neoplasm of the large intestine
Squamous cell lung carcinoma
Multiple myeloma

Criteria Provided
Single Submitter

CA123047

rs_121918465

3 SubmittersRCV000014267 RCV000033477 RCV000424761 RCV000424995 RCV000432192 RCV000443046 RCV000444034

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

SNV
Germline/somatic

Chr2:29209798

Pathogenic

Neuroblastoma, susceptibility to, 3
Breast neoplasm
Neuroblastoma
Neoplasm of brain
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341482

rs_113994087

8 SubmittersRCV000019709 RCV000423720 RCV000432041 RCV000440978 RCV001268655 RCV002354167

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

SNV
Germline/somatic

Chr2:29222584

Pathogenic/Likely pathogenic; risk factor

Neoplasm of brain
Neuroblastoma
Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA341484

rs_113994088

4 SubmittersRCV000421391 RCV000438595 RCV000019710

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

SNV
Germline/somatic

Chr2:29220776

Pathogenic

Neoplasm of brain
Neuroblastoma
Neuroblastoma, susceptibility to, 3

Criteria Provided
Single Submitter

CA341486

rs_113994089

4 SubmittersRCV000422453 RCV000427890 RCV000019711

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

SNV
Germline/somatic

Chr2:29222407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341488

rs_113994091

6 SubmittersRCV000019712 RCV000439097 RCV001020341

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

Criteria Provided
Conflicting Classifications

CA342013

rs_113994090

5 SubmittersRCV000020581 RCV000997104 RCV003153305

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
Neuroblastoma
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025874

rs_80359143

15 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000761134 RCV000505714 RCV001082957 RCV000770734

NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)

SNV
Germline/somatic

Chr12:112450395

Conflicting classifications of pathogenicity

B-cell chronic lymphocytic leukemia
Condition: not provided
Neuroblastoma
Acute myeloid leukemia
Neoplasm of brain
RASopathy

Criteria Provided
Conflicting Classifications

CA215451

rs_121918454

4 SubmittersRCV000431335 RCV000413699 RCV000425022 RCV000434875 RCV000420663 RCV003654183

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

SNV
Germline/somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA345001

rs_281864719

3 SubmittersRCV000055894 RCV000434983

NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)

SNV
Germline/somatic

Chr2:29213994

Pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA345003

rs_281864720

2 SubmittersRCV000055895 RCV000426209

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

SNV
Germline/somatic

Chr1:114713909

Conflicting classifications of pathogenicity

Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Non-small cell lung carcinoma
Nasopharyngeal neoplasm
Glioblastoma
Transitional cell carcinoma of the bladder
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Neuroblastoma
Multiple myeloma
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Vascular Tumors Including Pyogenic Granuloma
Ras Inhibitor response
RASopathy
Condition: not provided
B-cell chronic lymphocytic leukemia
Acute myeloid leukemia
Adrenal cortex carcinoma
Melanoma
Neoplasm of brain
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA151263

rs_121913254

7 SubmittersRCV000114746 RCV000144964 RCV000425440 RCV000426976 RCV000428264 RCV000428499 RCV000436588 RCV000436806 RCV000443974 RCV000423656 RCV000444882 RCV000423012 RCV000433274 RCV000441348 RCV000444538 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV000418269 RCV000418907 RCV000431313 RCV000434388 RCV000435041 RCV000441559

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

6 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
Condition: not provided
Hereditary cancer-predisposing syndrome
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA156617

rs_140733978

7 SubmittersRCV000119971 RCV000475908 RCV002266923 RCV002257413 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

5 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

7 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

6 SubmittersRCV000119982 RCV000731883 RCV001087719 RCV002257416

NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)

SNV
Germline

Chr2:29193832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156653

rs_56181542

7 SubmittersRCV000119983 RCV000234168 RCV001022153 RCV003237719 RCV003952584

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

9 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136

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

Criteria Provided
Conflicting Classifications

CA156662

rs_144030155

5 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611

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

Criteria Provided
Conflicting Classifications

CA161478

rs_587778606

5 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052

NM_000546.6(TP53):c.842A>G (p.Asp281Gly)

SNV
Germline/somatic

Chr17:7673778

Pathogenic

Hereditary cancer-predisposing syndrome
Neuroblastoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Lung adenocarcinoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000450

rs_587781525

7 SubmittersRCV000129516 RCV000425885 RCV000426980 RCV000428043 RCV000434395 RCV000435472 RCV000436592 RCV000418481 RCV000423760 RCV000431187 RCV000423959 RCV000433596 RCV000441016 RCV000442068 RCV000438583 RCV000442813 RCV000418257 RCV000429146 RCV000436807 RCV000633367 RCV002288626 RCV003237737

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

SNV
Germline

Chr1:10361732

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233113

rs_200561798

9 SubmittersRCV000143821 RCV001080346 RCV001174215 RCV001098766 RCV004019755

NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)

SNV
Germline/somatic

Chr12:112450394

Pathogenic/Likely pathogenic

RASopathy
Neuroblastoma
Neoplasm of brain
Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Condition: not provided
Noonan syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180706

rs_121918453

8 SubmittersRCV000154367 RCV000417864 RCV000425277 RCV000443279 RCV000435950 RCV000680626 RCV000824740 RCV000995620 RCV001813395

NM_000546.6(TP53):c.842A>T (p.Asp281Val)

SNV
Germline/somatic

Chr17:7673778

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Uterine carcinosarcoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Glioblastoma
Lung adenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Hepatocellular carcinoma
Neuroblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000452

rs_587781525

5 SubmittersRCV000161072 RCV000215048 RCV000418100 RCV000428503 RCV000426125 RCV000434194 RCV000432892 RCV000435682 RCV000435739 RCV000440916 RCV000442104 RCV000417569 RCV000423186 RCV000425401 RCV000423894 RCV000431328 RCV000433464 RCV000438736 RCV000443096 RCV000441595 RCV000799325 RCV002288706

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
Neuroblastoma

No Assertion Criteria Provided

CA279600

rs_863225285

2 SubmittersRCV000201889 RCV000421376

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 RCV000444691

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

SNV
Somatic

Chr2:29213994

Pathogenic/Likely pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA277846

rs_281864720

2 SubmittersRCV000201924 RCV000439786

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/Likely pathogenic

Neuroblastoma, susceptibility to, 3
Lung adenocarcinoma
Neuroblastoma

No Assertion Criteria Provided

CA279616

rs_863225281

2 SubmittersRCV000201904 RCV000442440 RCV000427324

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

SNV
Somatic

Chr2:29220829

Pathogenic/Likely pathogenic

Neuroblastoma, susceptibility to, 3
Non-small cell lung carcinoma
Lung adenocarcinoma
Benign Soft Tissue Neoplasm of Uncertain Differentiation
Neuroblastoma

No Assertion Criteria Provided

CA279586

rs_863225281

2 SubmittersRCV000201882 RCV000418576 RCV000426846 RCV000435780 RCV000444781

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

SNV
Somatic

Chr2:29220831

Pathogenic/Likely pathogenic

Neuroblastoma, susceptibility to, 3
Neuroblastoma

No Assertion Criteria Provided

CA277829

rs_281864719

2 SubmittersRCV000201883 RCV000421904

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 RCV000417766

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

SNV
Somatic

Chr8:38417331

Pathogenic

Encephalocraniocutaneous lipomatosis
Gastric adenocarcinoma
Neuroblastoma
Brainstem glioma
Medulloblastoma
Astrocytoma
Rosette-forming glioneuronal tumor

Criteria Provided
Multiple Submitters
No Conflicts

CA357830

rs_779707422

6 SubmittersRCV000210485 RCV000422315 RCV000428878 RCV000429528 RCV000439566 RCV000440238 RCV000487433

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

Criteria Provided
Conflicting Classifications

CA1593605

rs_749418931

4 SubmittersRCV000228085 RCV001566391 RCV003417825

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

Criteria Provided
Conflicting Classifications

CA1594381

rs_762395127

3 SubmittersRCV000230160 RCV002429113

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

SNV
Germline

Chr2:29251160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594424

rs_147858673

7 SubmittersRCV000226263 RCV000507604 RCV002256160 RCV002305468 RCV003955342

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

SNV
Germline

Chr2:29328388

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594674

rs_773380015

3 SubmittersRCV000231007 RCV003417821 RCV002378996

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

Criteria Provided
Conflicting Classifications

CA1594770

rs_773367495

3 SubmittersRCV000230394 RCV002411042

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

Criteria Provided
Conflicting Classifications

CA1594963

rs_74774946

7 SubmittersRCV000229990 RCV001022915 RCV001824304

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

SNV
Germline

Chr2:29920350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595006

rs_576431612

5 SubmittersRCV000229111 RCV002257559 RCV002307461

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

SNV
Germline

Chr4:41745920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2901407

rs_138545772

7 SubmittersRCV000229358 RCV001017576 RCV001391323 RCV001145118 RCV003919957 RCV001753699

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

SNV
Germline

Chr1:10282440

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2
not specified

Criteria Provided
Conflicting Classifications

CA580938

rs_763679404

3 SubmittersRCV000352133 RCV000405571 RCV004021333

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.315T>C (p.Tyr105=)

SNV
Germline

Chr1:10258624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA580664

rs_144889528

3 SubmittersRCV000276770 RCV000327165 RCV000371287 RCV004021329

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

SNV
Germline

Chr1:10261890

Conflicting classifications of pathogenicity

Neuroblastoma
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA580684

rs_771929965

2 SubmittersRCV000322651 RCV002522047

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

SNV
Germline

Chr1:10261895

Conflicting classifications of pathogenicity

Neuroblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607191

rs_886044966

2 SubmittersRCV000337868 RCV000867679

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

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

Criteria Provided
Conflicting Classifications

CA580622

rs_143654307

6 SubmittersRCV000347279 RCV000383160 RCV001173603 RCV003480578 RCV004021327 RCV004567840

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

Criteria Provided
Conflicting Classifications

CA582184

rs_145969842

5 SubmittersRCV000373752 RCV000469029 RCV003485573 RCV004021350 RCV003417930

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

Criteria Provided
Conflicting Classifications

CA582296

rs_146436697

4 SubmittersRCV000306164 RCV000467676 RCV003967815 RCV004021351

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593574

rs_141010693

4 SubmittersRCV000469389 RCV002291619 RCV002255369

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

Criteria Provided
Conflicting Classifications

CA1593586

rs_372612147

3 SubmittersRCV000555867 RCV002256210

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

Criteria Provided
Conflicting Classifications

CA1595007

rs_576431612

3 SubmittersRCV000530879 RCV002323541

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.3839C>T (p.Ala1280Val)

SNV
Germline

Chr2:29207270

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593742

rs_74716434

6 SubmittersRCV000318323 RCV000569836 RCV000540430 RCV003441844

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

SNV
Germline

Chr2:29227587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10613632

rs_886055930

4 SubmittersRCV000407364 RCV002436199 RCV003441845

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.3173-11C>T

SNV
Germline

Chr2:29223539

Conflicting classifications of pathogenicity

Neuroblastoma Susceptibility
not specified
Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594044

rs_79339096

5 SubmittersRCV000289200 RCV000418057 RCV001000138 RCV002257646

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

Criteria Provided
Conflicting Classifications

CA1594812

rs_367712624

3 SubmittersRCV000551970 RCV002255145

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

6 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
Haddad syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2901428

rs_747626591

8 SubmittersRCV000268582 RCV000323710 RCV001507229 RCV003228923 RCV001026770 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

Criteria Provided
Conflicting Classifications

CA2901451

rs_751829128

3 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240

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

SNV
Somatic

Chr2:29213992

Pathogenic

Neuroblastoma

No Assertion Criteria Provided

CA16602368

rs_863225284

1 SubmittersRCV000434421

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

SNV
Germline/somatic

Chr2:29220830

Likely pathogenic

Neuroblastoma
ALK-related disorder

Criteria Provided
Single Submitter

CA16602370

rs_1057519697

2 SubmittersRCV000425764 RCV003401411

NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn)

SNV
Somatic

Chr2:29222347

Pathogenic

Neuroblastoma

No Assertion Criteria Provided

CA16602371

rs_1057519698

1 SubmittersRCV000428427

NM_002467.6(MYC):c.218C>T (p.Thr73Ile)

SNV
Somatic

Chr8:127738435

Likely pathogenic

Non-Hodgkin lymphoma
Neoplasm
Lung adenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Neuroblastoma

No Assertion Criteria Provided

CA16602746

rs_756091827

1 SubmittersRCV000419562 RCV000423713 RCV000430246 RCV000434207 RCV000440950 RCV000441422

NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu)

SNV
Somatic

Chr2:29209798

Likely pathogenic

Breast neoplasm
Neuroblastoma

No Assertion Criteria Provided

CA16602804

rs_113994087

1 SubmittersRCV000418856 RCV000436534

NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)

SNV
Somatic

Chr8:38417333

Likely pathogenic

Neuroblastoma
Astrocytoma
Brainstem glioma
Medulloblastoma
Gastric adenocarcinoma

No Assertion Criteria Provided

CA16602864

rs_1057519898

1 SubmittersRCV000425019 RCV000424432 RCV000435153 RCV000443693 RCV000443832

NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)

SNV
Somatic

Chr8:38417879

Likely pathogenic

Gastric adenocarcinoma
Medulloblastoma
Brainstem glioma
Astrocytoma
Neuroblastoma

No Assertion Criteria Provided

CA16602865

rs_1057519899

1 SubmittersRCV000419230 RCV000418590 RCV000429290 RCV000435727 RCV000436467

NM_002467.6(MYC):c.217A>C (p.Thr73Pro)

SNV
Somatic

Chr8:127738434

Likely pathogenic

Neuroblastoma
Non-Hodgkin lymphoma
Malignant melanoma of skin
Carcinoma of esophagus
Lung adenocarcinoma

No Assertion Criteria Provided

CA4875250

rs_750664148

1 SubmittersRCV000420006 RCV000426528 RCV000437207 RCV000438328 RCV000445053

NM_002467.6(MYC):c.173C>T (p.Pro58Leu)

SNV
Somatic

Chr8:127738390

Likely pathogenic

Non-Hodgkin lymphoma
Lung adenocarcinoma
Carcinoma of esophagus
Neuroblastoma
Malignant melanoma of skin

No Assertion Criteria Provided

CA16602893

rs_1057519918

1 SubmittersRCV000418915 RCV000427867 RCV000428982 RCV000436178 RCV000438593

NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)

SNV
Somatic

Chr3:179199156

Pathogenic

Gastric adenocarcinoma
Neuroblastoma
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Glioblastoma
Multiple myeloma
Neoplasm of uterine cervix
Lung adenocarcinoma
Neoplasm of brain
Breast neoplasm
Cowden syndrome 5

Criteria Provided
Single Submitter

CA16602916

rs_1057519933

2 SubmittersRCV000421413 RCV000421221 RCV000425975 RCV000426940 RCV000431459 RCV000432535 RCV000436960 RCV000437184 RCV000442136 RCV000442739 RCV000442943 RCV003147452

NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)

SNV
Somatic

Chr3:179199157

Likely pathogenic

Neoplasm of uterine cervix
Lung adenocarcinoma
Gastric adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Multiple myeloma
Glioblastoma
Neoplasm of the large intestine
Neuroblastoma
Neoplasm of brain
Malignant neoplasm of body of uterus

No Assertion Criteria Provided

CA16602918

rs_1057519935

1 SubmittersRCV000417780 RCV000423063 RCV000424501 RCV000426788 RCV000427854 RCV000433335 RCV000437845 RCV000438066 RCV000442310 RCV000443094 RCV000443132

NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)

SNV
Somatic

Chr12:112450395

Likely pathogenic

Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Neuroblastoma

No Assertion Criteria Provided

CA16602941

rs_121918454

1 SubmittersRCV000420417 RCV000430256 RCV000440942 RCV000441142

NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Breast neoplasm
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Gastric adenocarcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Neuroblastoma
Uterine carcinosarcoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603009

rs_764146326

3 SubmittersRCV000419187 RCV000419880 RCV000421597 RCV000422382 RCV000422971 RCV000424398 RCV000427237 RCV000429763 RCV000431847 RCV000430133 RCV000432647 RCV000437480 RCV000438115 RCV000436876 RCV000440017 RCV000442319 RCV000442636 RCV000443331 RCV000792342 RCV004022209

NM_000546.6(TP53):c.841G>A (p.Asp281Asn)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Multiple myeloma
Hepatocellular carcinoma
Neuroblastoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant melanoma of skin
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001503

rs_764146326

5 SubmittersRCV000418705 RCV000421233 RCV000422096 RCV000426863 RCV000424002 RCV000428837 RCV000429505 RCV000428968 RCV000426180 RCV000434267 RCV000431489 RCV000437075 RCV000439749 RCV000442054 RCV000443405 RCV000443489 RCV000436424 RCV000438896 RCV000785452 RCV000824609 RCV002446642

NM_000546.6(TP53):c.841G>C (p.Asp281His)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Malignant melanoma of skin
Squamous cell lung carcinoma
Neuroblastoma
Squamous cell carcinoma of the skin
Multiple myeloma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Breast neoplasm
Hepatocellular carcinoma
Glioblastoma
Gallbladder cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603010

rs_764146326

5 SubmittersRCV000420094 RCV000418744 RCV000421295 RCV000419869 RCV000422034 RCV000423682 RCV000428355 RCV000427301 RCV000429459 RCV000427507 RCV000429671 RCV000434610 RCV000437082 RCV000436837 RCV000439019 RCV000438193 RCV000439212 RCV000443566 RCV001292542 RCV001306199 RCV002446644 RCV004022210

NM_000546.6(TP53):c.842A>C (p.Asp281Ala)

SNV
Somatic

Chr17:7673778

Likely pathogenic

Uterine carcinosarcoma
Gastric adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Multiple myeloma
Pancreatic adenocarcinoma
Neuroblastoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Glioblastoma
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Adrenocortical carcinoma, hereditary

Criteria Provided
Single Submitter

CA16603011

rs_587781525

2 SubmittersRCV000417517 RCV000419849 RCV000420104 RCV000422679 RCV000424893 RCV000427537 RCV000425979 RCV000429708 RCV000430790 RCV000433406 RCV000435611 RCV000435784 RCV000438210 RCV000440361 RCV000440602 RCV000442214 RCV000443934 RCV000442965 RCV003463826

NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu)

SNV
Somatic

Chr2:29213994

Likely pathogenic

Neuroblastoma

No Assertion Criteria Provided

CA16603122

rs_281864720

1 SubmittersRCV000432633

NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)

SNV
Somatic

Chr2:29222362

Likely pathogenic

Neuroblastoma

No Assertion Criteria Provided

CA16603123

rs_1057520019

1 SubmittersRCV000422585

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

SNV
Germline

Chr2:29193292

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593480

rs_373037272

6 SubmittersRCV000470897 RCV002298594

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.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.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

Criteria Provided
Conflicting Classifications

CA1594872

rs_771593278

5 SubmittersRCV000468417 RCV002256243 RCV003226926

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.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

3 SubmittersRCV000467087 RCV002256282 RCV003153651

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

4 SubmittersRCV000462396 RCV000482658 RCV002329015

NM_004304.5(ALK):c.4425C>T (p.His1475=)

SNV
Germline

Chr2:29193662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593575

rs_139039449

6 SubmittersRCV000459909 RCV002257728 RCV003409640 RCV003899940

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

4 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

5 SubmittersRCV000467869 RCV000571840 RCV002473007

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

Criteria Provided
Conflicting Classifications

CA1594830

rs_149145987

3 SubmittersRCV000473638 RCV002256241

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

SNV
Germline

Chr2:29694930

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA1594833

rs_572340007

4 SubmittersRCV000465368 RCV003153577

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

Criteria Provided
Conflicting Classifications

CA1593478

rs_376702277

3 SubmittersRCV000475870 RCV002339111

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_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

Criteria Provided
Conflicting Classifications

CA580866

rs_150411706

4 SubmittersRCV000560282 RCV001099772 RCV003980040 RCV004024390

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.2269G>A (p.Val757Met)

SNV
Germline

Chr2:29239766

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA1594372

rs_371005946

4 SubmittersRCV000528414 RCV003225087 RCV003153718

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.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

7 SubmittersRCV000560261 RCV002258962 RCV003325492

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

Criteria Provided
Conflicting Classifications

CA1593623

rs_757615099

5 SubmittersRCV000553113 RCV003153719 RCV004024161

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

SNV
Germline

Chr2:29920520

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1595037

rs_541315214

4 SubmittersRCV000551780 RCV001356620

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

Criteria Provided
Conflicting Classifications

CA1594119

rs_761999849

3 SubmittersRCV000540706 RCV002257823

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

Criteria Provided
Conflicting Classifications

CA1594441

rs_370435082

4 SubmittersRCV000558370 RCV002420486

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

6 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

Criteria Provided
Conflicting Classifications

CA1594727

rs_779282861

4 SubmittersRCV000542876 RCV002255453

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.3291C>T (p.Cys1097=)

SNV
Germline

Chr2:29223410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594015

rs_370170353

6 SubmittersRCV000731882 RCV001019712 RCV001087799 RCV003935486

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.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

7 SubmittersRCV000525971 RCV002256381 RCV003313100 RCV003236815 RCV003962544

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.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

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

Criteria Provided
Conflicting Classifications

CA2901525

rs_748614674

3 SubmittersRCV001021436 RCV000536791 RCV003476288

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

5 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
Neuroblastoma, susceptibility to, 2
Congenital central hypoventilation
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.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.822G>A (p.Leu274=)

SNV
Germline

Chr2:29694980

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA425520848

rs_1265006535

2 SubmittersRCV000647384

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

4 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

2 SubmittersRCV000647440 RCV002257901

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

Criteria Provided
Conflicting Classifications

CA1594995

rs_758250431

4 SubmittersRCV000647455 RCV003153787 RCV004025737

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

4 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
Hereditary cancer-predisposing syndrome
Condition: not provided
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594036

rs_138178848

4 SubmittersRCV000647512 RCV002449064 RCV002307573 RCV003892468

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

Criteria Provided
Conflicting Classifications

CA1594537

rs_754810505

5 SubmittersRCV000647463 RCV002406428 RCV003106011

NM_004304.5(ALK):c.84C>T (p.Arg28=)

SNV
Germline

Chr2:29920576

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425627819

rs_1355709394

2 SubmittersRCV000647439 RCV002449061

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.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

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

rs_915983602

4 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

rs_1216426444

1 SubmittersRCV000656367 RCV000656369

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

Criteria Provided
Conflicting Classifications

rs_753763148

3 SubmittersRCV000686469 RCV001021707

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

rs_550608288

3 SubmittersRCV000694546 RCV002369875

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

SNV
Germline

Chr19:10986368

Likely pathogenic

Neuroblastoma

Criteria Provided
Single Submitter

rs_1469271544

1 SubmittersRCV000722032

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

SNV
Germline

Chr9:95508307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_778460384

5 SubmittersRCV000828033 RCV000761070 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

Criteria Provided
Conflicting Classifications

rs_200341945

3 SubmittersRCV000800831 RCV001775060 RCV003975309

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

rs_761343609

4 SubmittersRCV000795601 RCV001097598 RCV002291698 RCV004027530

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

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

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

Criteria Provided
Conflicting Classifications

rs_377129811

2 SubmittersRCV000799861 RCV003442083

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

rs_761459938

4 SubmittersRCV000821604 RCV002363166 RCV003225131

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

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

Criteria Provided
Conflicting Classifications

rs_61744521

2 SubmittersRCV000811023 RCV003153851

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

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

rs_765139446

2 SubmittersRCV000810248 RCV002363090

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

Criteria Provided
Conflicting Classifications

rs_758537157

3 SubmittersRCV000801283 RCV002424849

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

rs_762234006

4 SubmittersRCV002233854 RCV002370071 RCV003130042 RCV003472339

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

SNV
Germline

Chr1:10334529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749154726

5 SubmittersRCV001098680 RCV001429972 RCV001172600 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

rs_758502850

3 SubmittersRCV000870214 RCV002336819

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

SNV
Germline

Chr2:29228963

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_1489025810

2 SubmittersRCV000876449 RCV001497944

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

SNV
Germline

Chr2:29197681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_1573084845

2 SubmittersRCV001021474 RCV000877092

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

rs_372037531

3 SubmittersRCV000946088 RCV002258070

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

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

rs_752052590

3 SubmittersRCV001020010 RCV001039956

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

rs_201759867

2 SubmittersRCV001071336 RCV002327371

NM_004304.5(ALK):c.3663G>A (p.Leu1221=)

SNV
Germline

Chr2:29214064

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_751889072

2 SubmittersRCV001037935 RCV002454274

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

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

rs_768229646

3 SubmittersRCV001058170 RCV002355053

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

rs_1165737526

2 SubmittersRCV001046255 RCV004031428

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

SNV
Germline

Chr1:10256299

Conflicting classifications of pathogenicity

Neuroblastoma
not specified

Criteria Provided
Conflicting Classifications

rs_752674254

2 SubmittersRCV001097597 RCV004032027

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

SNV
Germline

Chr1:10258573

Conflicting classifications of pathogenicity

Neuroblastoma
not specified

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_141637645

3 SubmittersRCV001097982 RCV002067747 RCV004032034

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_754234374

3 SubmittersRCV001098767 RCV001856337 RCV004032043

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

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

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

rs_1397719362

2 SubmittersRCV001097981 RCV003744730

NM_001365951.3(KIF1B):c.3513+7G>T

SNV
Germline

Chr1:10339866

Conflicting classifications of pathogenicity

Neuroblastoma
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

rs_1174031782

2 SubmittersRCV001100482 RCV003938443

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

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

Criteria Provided
Conflicting Classifications

rs_1278070199

2 SubmittersRCV001143782

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

SNV
Germline

Chr2:29296985

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_762358335

2 SubmittersRCV001143783

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

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

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

rs_764470906

4 SubmittersRCV001147071 RCV001147072 RCV001430876 RCV001811674 RCV002379658

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

SNV
Germline

Chr4:41746103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759792321

3 SubmittersRCV001219764 RCV002365993 RCV004570509

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

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

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

rs_371735276

3 SubmittersRCV001229702 RCV002322107 RCV003238850

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

rs_1572504096

2 SubmittersRCV001225351 RCV002339607

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

rs_560530815

3 SubmittersRCV001244651 RCV002327593

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

SNV
Germline

Chr2:29328389

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1466204048

2 SubmittersRCV001299091 RCV003153974

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

rs_369505500

2 SubmittersRCV001322720 RCV002357154

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

SNV
Germline

Chr4:41745807

Pathogenic

Neuroblastoma, susceptibility to, 2

Criteria Provided
Single Submitter

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

rs_750849080

2 SubmittersRCV001351857 RCV002431995

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

rs_748100651

2 SubmittersRCV001347329 RCV002431978

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

SNV
Germline

Chr2:29531985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_1465809492

2 SubmittersRCV002432023 RCV001363252

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

SNV
Germline

Chr2:29920030

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1337002578

3 SubmittersRCV001418756 RCV003325575 RCV002368312

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

SNV
Germline

Chr2:29328453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757241673

3 SubmittersRCV001441854 RCV003227975 RCV002384676

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

rs_75434768

3 SubmittersRCV001487553 RCV002439171 RCV003442885

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

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

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

rs_1302907379

2 SubmittersRCV001978701 RCV002407132

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

rs_2148307303

2 SubmittersRCV001993725 RCV004044658

NM_004304.5(ALK):c.1428G>A (p.Val476=)

SNV
Germline

Chr2:29320869

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1667017111

2 SubmittersRCV002050074 RCV002388691

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

rs_746470148

2 SubmittersRCV001948481 RCV003154223

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

rs_749530596

2 SubmittersRCV001923469 RCV002331448

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

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

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

rs_1665516730

2 SubmittersRCV002010032 RCV003303585

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

rs_2148159628

2 SubmittersRCV002140879 RCV002256935

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

rs_750800690

2 SubmittersRCV002209132 RCV002346382

NM_004304.5(ALK):c.4272C>T (p.Leu1424=)

SNV
Germline

Chr2:29193815

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002330042 RCV003102553

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

2 SubmittersRCV002328487 RCV003464464

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

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

2 SubmittersRCV002437709 RCV003102810

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

3 SubmittersRCV002801358 RCV004064865

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

SNV
Unknown

Chr4:41746040

Likely pathogenic

Neuroblastoma, susceptibility to, 2

Criteria Provided
Single Submitter

1 SubmittersRCV003472440