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 KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA116990	rs_121908162	9 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001173590 RCV001269366 RCV003237410 RCV004018562 RCV004742212
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_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	SNV Germline/somatic	Chr2:29209798	Pathogenic	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341482	rs_113994087	8 SubmittersRCV000019709 RCV002354167 RCV001268655
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	SNV Germline	Chr2:29222584	Pathogenic; risk factor	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA341484	rs_113994088	3 SubmittersRCV000019710
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	SNV Germline	Chr2:29220776	Pathogenic	Neuroblastoma, susceptibility to, 3	Criteria Provided Single Submitter	CA341486	rs_113994089	3 SubmittersRCV000019711
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)	SNV Germline	Chr2:29222407	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA341488	rs_113994091	6 SubmittersRCV000019712 RCV001020341 RCV004589517
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile)	SNV Germline	Chr2:29223441	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA342013	rs_113994090	6 SubmittersRCV000020581 RCV000997104 RCV003153305 RCV004948136
NM_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 not specified Condition: not provided Neuroblastoma Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA025874	rs_80359143	15 SubmittersRCV000031777 RCV000128971 RCV000505714 RCV000587937 RCV000761134 RCV000770734 RCV001082957
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)	SNV Germline/somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA345001	rs_281864719	2 SubmittersRCV000055894
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)	SNV Germline	Chr2:29232359	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA156608	rs_61754865	7 SubmittersRCV000119968 RCV000226467 RCV002255130 RCV003415905
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)	SNV Germline	Chr2:29225553	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156617	rs_140733978	8 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	6 SubmittersRCV000119974 RCV000466193 RCV002257414 RCV002508194
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	SNV Germline	Chr2:29193291	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156647	rs_1881423	8 SubmittersRCV000119981 RCV000472979 RCV001356607 RCV002257415 RCV003935135
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)	SNV Germline	Chr2:29193901	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA156650	rs_201768549	7 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 ALK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA156653	rs_56181542	7 SubmittersRCV000119983 RCV000234168 RCV001022153 RCV003952584 RCV003237719
NM_004304.5(ALK):c.932G>A (p.Arg311His)	SNV Germline	Chr2:29694870	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA156656	rs_150966028	10 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136
NM_004304.5(ALK):c.808T>C (p.Phe270Leu)	SNV Germline	Chr2:29694994	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA156659	rs_143229596	5 SubmittersRCV000119985 RCV000463094 RCV003126501 RCV004948185
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)	SNV Germline	Chr2:29531969	Conflicting classifications of pathogenicity	not specified Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA156662	rs_144030155	7 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611 RCV004745197
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	SNV Germline	Chr4:41746135	Conflicting classifications of pathogenicity	not specified Condition: not provided Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA161478	rs_587778606	5 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052
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 Neuroblastoma Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications	CA233113	rs_200561798	9 SubmittersRCV000143821 RCV001080346 RCV001098766 RCV001174215 RCV004019755
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	SNV Germline	Chr1:10343244	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Neuroblastoma Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA202589	rs_147318592	10 SubmittersRCV000177655 RCV000198749 RCV000373531 RCV001173612 RCV001706137
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)	SNV Somatic	Chr2:29209789	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279600	rs_863225285	1 SubmittersRCV000201889
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)	SNV Somatic	Chr2:29213992	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279621	rs_863225284	1 SubmittersRCV000201908
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)	SNV Somatic	Chr2:29213993	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279597	rs_863225283	1 SubmittersRCV000201887
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)	SNV Somatic	Chr2:29213994	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA277846	rs_281864720	1 SubmittersRCV000201924
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)	SNV Somatic	Chr2:29214009	Likely pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279618	rs_863225282	1 SubmittersRCV000201906
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279616	rs_863225281	1 SubmittersRCV000201904
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA279586	rs_863225281	1 SubmittersRCV000201882
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)	SNV Somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA277829	rs_281864719	1 SubmittersRCV000201883
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)	SNV Somatic	Chr2:29220831	Pathogenic	Neuroblastoma, susceptibility to, 3	No Assertion Criteria Provided	CA277834	rs_281864719	1 SubmittersRCV000201918
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)	SNV Germline	Chr2:29193479	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593529	rs_147241767	3 SubmittersRCV000232180 RCV002338733
NM_004304.5(ALK):c.4275G>A (p.Leu1425=)	SNV Germline	Chr2:29193812	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593605	rs_749418931	5 SubmittersRCV000228085 RCV001566391 RCV003417825 RCV004948228
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)	SNV Germline	Chr2:29220752	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1593854	rs_200585833	7 SubmittersRCV000229337 RCV000573898 RCV002284382 RCV004745300
NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu)	SNV Germline	Chr2:29223444	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594025	rs_138589984	6 SubmittersRCV000231894 RCV002256164 RCV004725109
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)	SNV Germline	Chr2:29239796	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594381	rs_762395127	4 SubmittersRCV000230160 RCV002429113 RCV004767185
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)	SNV Germline	Chr2:29251160	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 not specified Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594424	rs_147858673	9 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 Hereditary cancer-predisposing syndrome ALK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1594674	rs_773380015	4 SubmittersRCV000231007 RCV002378996 RCV003417821 RCV004725108
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)	SNV Germline	Chr2:29532002	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594770	rs_773367495	4 SubmittersRCV000230394 RCV002411042 RCV004760459
NM_004304.5(ALK):c.472C>A (p.Pro158Thr)	SNV Germline	Chr2:29920188	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594960	rs_536284304	3 SubmittersRCV000231787 RCV004948229
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)	SNV Germline	Chr2:29920191	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594963	rs_74774946	8 SubmittersRCV000229990 RCV001022915 RCV001824304 RCV004745302
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)	SNV Germline	Chr2:29920350	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595006	rs_576431612	5 SubmittersRCV000229111 RCV002307461 RCV002257559
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	SNV Germline	Chr4:41745920	Conflicting classifications of pathogenicity	Congenital central hypoventilation Hereditary cancer-predisposing syndrome Haddad syndrome Neuroblastoma, susceptibility to, 2 Condition: not provided not specified PHOX2B-related disorder	Criteria Provided Conflicting Classifications	CA2901407	rs_138545772	8 SubmittersRCV000229358 RCV001017576 RCV001391323 RCV001145118 RCV001753699 RCV004800351 RCV003919957
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)	SNV Germline	Chr1:10282440	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Neuroblastoma not specified Condition: not provided KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA580938	rs_763679404	5 SubmittersRCV000405571 RCV000352133 RCV004021333 RCV004584662 RCV004742372
NM_001365951.3(KIF1B):c.107-8T>A	SNV Germline	Chr1:10256239	Conflicting classifications of pathogenicity	Neuroblastoma Condition: not provided Charcot-Marie-Tooth disease type 2 KIF1B-related disorder	Criteria Provided Conflicting Classifications	CA580614	rs_749389756	5 SubmittersRCV000287514 RCV001699285 RCV002518172 RCV003977816
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	SNV Germline	Chr1:10258624	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Pheochromocytoma Neuroblastoma not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA580664	rs_144889528	4 SubmittersRCV000276770 RCV000327165 RCV000371287 RCV004021329 RCV004584661
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 KIF1B-related disorder not specified	Criteria Provided Conflicting Classifications	CA582184	rs_145969842	5 SubmittersRCV000373752 RCV000469029 RCV003485573 RCV003417930 RCV004021350
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 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593574	rs_141010693	5 SubmittersRCV000469389 RCV002255369 RCV002291619
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)	SNV Germline	Chr2:29193712	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593586	rs_372612147	5 SubmittersRCV000555867 RCV002256210 RCV004760482
NM_004304.5(ALK):c.510C>T (p.Leu170=)	SNV Germline	Chr2:29920150	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10613155	rs_886055933	3 SubmittersRCV000370379 RCV003352842
NM_004304.5(ALK):c.507T>C (p.Asn169=)	SNV Germline	Chr2:29920153	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594950	rs_780271684	2 SubmittersRCV000275905 RCV004021813
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)	SNV Germline	Chr2:29920350	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595007	rs_576431612	4 SubmittersRCV000530879 RCV002323541 RCV004725176
NM_004304.5(ALK):c.-415T>C	SNV Germline	Chr2:29921074	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10613172	rs_755231246	2 SubmittersRCV000392419 RCV002263610
NM_004304.5(ALK):c.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 Condition: not provided	Criteria Provided Conflicting Classifications	CA1594812	rs_367712624	6 SubmittersRCV000551970 RCV002255145 RCV004694556
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 PHOX2B-related disorder	Criteria Provided Conflicting Classifications	CA2901451	rs_751829128	4 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240 RCV004752872
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	SNV Germline	Chr2:29193292	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593480	rs_373037272	7 SubmittersRCV000470897 RCV002298594 RCV004948298
NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala)	SNV Germline	Chr2:29193384	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593508	rs_763613910	4 SubmittersRCV000458834 RCV004591285 RCV004948295
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)	SNV Germline	Chr2:29193887	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593626	rs_143647372	6 SubmittersRCV000471219 RCV003392267 RCV001022040
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)	SNV Germline	Chr2:29239751	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594369	rs_751419856	2 SubmittersRCV000476112 RCV002446771
NM_004304.5(ALK):c.2016A>T (p.Arg672Ser)	SNV Germline	Chr2:29275124	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16610715	rs_1060500225	2 SubmittersRCV000457475 RCV004948306
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)	SNV Germline	Chr2:29213985	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593801	rs_145028315	4 SubmittersRCV000657739 RCV001021020 RCV001086604
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.1999G>A (p.Gly667Arg)	SNV Germline	Chr2:29275141	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594466	rs_539763601	4 SubmittersRCV000459331 RCV004948296
NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)	SNV Germline	Chr2:29297053	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594566	rs_374136388	2 SubmittersRCV000460471 RCV004948302
NM_004304.5(ALK):c.1648C>T (p.Leu550Phe)	SNV Germline	Chr2:29297057	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA1594568	rs_769821764	3 SubmittersRCV000467087 RCV002256282 RCV003153651
NM_004304.5(ALK):c.206G>A (p.Arg69Gln)	SNV Germline	Chr2:29920454	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595025	rs_769061878	5 SubmittersRCV000456939 RCV002257684 RCV002291626
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)	SNV Germline	Chr2:29193441	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593523	rs_199646095	4 SubmittersRCV000482658 RCV000462396 RCV002329015
NM_004304.5(ALK):c.76G>A (p.Gly26Ser)	SNV Germline	Chr2:29920584	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16610758	rs_1060500214	4 SubmittersRCV000458240 RCV004948299 RCV004591288
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	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1593974	rs_55760835	5 SubmittersRCV000571840 RCV000467869 RCV002473007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)	SNV Germline	Chr2:29225473	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594061	rs_375889530	7 SubmittersRCV000464094 RCV000761163 RCV002256242 RCV002285331
NM_004304.5(ALK):c.3133G>A (p.Val1045Met)	SNV Germline	Chr2:29225500	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594065	rs_200641396	4 SubmittersRCV000462948 RCV002289587 RCV004948297
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)	SNV Germline	Chr2:29225518	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594071	rs_200080181	6 SubmittersRCV000467803 RCV002284391 RCV000761097 RCV004948304
NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr2:29233636	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594321	rs_80227749	5 SubmittersRCV000459873 RCV003409611 RCV004722761 RCV004948300
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)	SNV Germline	Chr2:29275222	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594482	rs_144453491	5 SubmittersRCV000474932 RCV002258899 RCV003488597
NM_004304.5(ALK):c.1190A>T (p.Asp397Val)	SNV Germline	Chr2:29383824	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594724	rs_368122868	4 SubmittersRCV000462810 RCV004772912 RCV004948308
NM_004304.5(ALK):c.925G>A (p.Ala309Thr)	SNV Germline	Chr2:29694877	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594814	rs_145681577	2 SubmittersRCV000476286 RCV004948301
NM_004304.5(ALK):c.875G>A (p.Arg292His)	SNV Germline	Chr2:29694927	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594830	rs_149145987	5 SubmittersRCV000473638 RCV002256241 RCV004719821
NM_004304.5(ALK):c.872G>A (p.Arg291His)	SNV Germline	Chr2:29694930	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594833	rs_572340007	6 SubmittersRCV000465368 RCV003153577 RCV004948305 RCV004760497
NM_004304.5(ALK):c.782G>A (p.Arg261Gln)	SNV Germline	Chr2:29717583	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Condition: not provided not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594870	rs_375097381	5 SubmittersRCV000460065 RCV003401448 RCV003225068 RCV003151057 RCV004948303
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)	SNV Germline	Chr2:29193286	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593478	rs_376702277	6 SubmittersRCV000475870 RCV002339111 RCV004591286
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)	SNV Germline	Chr2:29232376	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594263	rs_189078025	3 SubmittersRCV000464123 RCV002451070
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)	SNV Germline	Chr2:29193251	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593465	rs_78174819	3 SubmittersRCV000478470 RCV001856865 RCV004948365
NM_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	Neuroblastoma Charcot-Marie-Tooth disease type 2 KIF1B-related disorder not specified	Criteria Provided Conflicting Classifications	CA580866	rs_150411706	4 SubmittersRCV001099772 RCV000560282 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.4193C>T (p.Pro1398Leu)	SNV Germline	Chr2:29193894	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1593630	rs_531490912	5 SubmittersRCV000540490 RCV003226944 RCV004948443
NM_004304.5(ALK):c.2479G>A (p.Val827Ile)	SNV Germline	Chr2:29233573	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594302	rs_756963896	4 SubmittersRCV000542818 RCV002456188
NM_004304.5(ALK):c.2269G>A (p.Val757Met)	SNV Germline	Chr2:29239766	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA1594372	rs_371005946	4 SubmittersRCV000528414 RCV003153718 RCV003225087
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr)	SNV Germline	Chr2:29296949	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594541	rs_75158395	3 SubmittersRCV000555720 RCV003318593 RCV004024155
NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)	SNV Germline	Chr2:29320769	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594630	rs_201449759	4 SubmittersRCV000532921 RCV003900208 RCV004948439 RCV004719868
NM_004304.5(ALK):c.1189G>A (p.Asp397Asn)	SNV Germline	Chr2:29383825	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594725	rs_747810439	4 SubmittersRCV000536445 RCV004691890 RCV004948434
NM_004304.5(ALK):c.1184G>A (p.Arg395His)	SNV Germline	Chr2:29383830	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594726	rs_769910087	8 SubmittersRCV000560261 RCV002258962 RCV003325492
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)	SNV Germline	Chr2:29193877	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593623	rs_757615099	6 SubmittersRCV000553113 RCV003153719 RCV004024161 RCV004592596
NM_004304.5(ALK):c.699G>A (p.Met233Ile)	SNV Germline	Chr2:29717666	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594893	rs_778129557	4 SubmittersRCV000559983 RCV004592597 RCV004948445
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)	SNV Germline	Chr2:29920520	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1595037	rs_541315214	5 SubmittersRCV000551780 RCV001356620 RCV004948438
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)	SNV Germline	Chr2:29920653	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590865	rs_1446332510	3 SubmittersRCV000538902 RCV002420488
NM_004304.5(ALK):c.3646-5C>T	SNV Germline	Chr2:29214086	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658655644	rs_1444967093	2 SubmittersRCV000558711 RCV004024159
NM_004304.5(ALK):c.2979C>T (p.Asp993=)	SNV Germline	Chr2:29227010	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	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	7 SubmittersRCV000731880 RCV001088281 RCV001775059 RCV002257821
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)	SNV Germline	Chr2:29383831	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594727	rs_779282861	5 SubmittersRCV000542876 RCV002255453 RCV004772982
NM_004304.5(ALK):c.350C>G (p.Pro117Arg)	SNV Germline	Chr2:29920310	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594997	rs_201290745	6 SubmittersRCV000541277 RCV002257825 RCV003159885
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)	SNV Germline	Chr2:29214036	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1593805	rs_771475772	4 SubmittersRCV000535025 RCV001020893 RCV003332196
NM_004304.5(ALK):c.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.2417G>A (p.Arg806His)	SNV Germline	Chr2:29233635	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594319	rs_761568836	5 SubmittersRCV000539294 RCV002258963 RCV004592594
NM_004304.5(ALK):c.3055G>A (p.Val1019Ile)	SNV Germline	Chr2:29226934	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594108	rs_76742576	3 SubmittersRCV000546699 RCV004948441
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 Condition: not provided Diffuse midline glioma, H3 K27-altered ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594552	rs_762358335	8 SubmittersRCV000525971 RCV002256381 RCV003236815 RCV003313100 RCV003962544
NM_004304.5(ALK):c.1279G>A (p.Glu427Lys)	SNV Germline	Chr2:29383735	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594707	rs_371652715	4 SubmittersRCV000537783 RCV002384194 RCV004760582
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.661G>C (p.Gly221Arg)	SNV Germline	Chr2:29919999	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594926	rs_199584443	5 SubmittersRCV000560898 RCV001025462 RCV004760585
NM_004304.5(ALK):c.233C>G (p.Ser78Trp)	SNV Germline	Chr2:29920427	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590433	rs_748978993	3 SubmittersRCV000555107 RCV004948440
NM_004304.5(ALK):c.118C>T (p.Pro40Ser)	SNV Germline	Chr2:29920542	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1595044	rs_371679329	3 SubmittersRCV000544242 RCV004948435 RCV004722906
NM_004304.5(ALK):c.13G>A (p.Gly5Arg)	SNV Germline	Chr2:29920647	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590852	rs_1272214012	2 SubmittersRCV000534322 RCV004948437
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)	SNV Germline	Chr2:29920553	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1595046	rs_773691688	3 SubmittersRCV000525534 RCV002420484 RCV003403320
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)	SNV Germline	Chr4:41745956	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA356737122	rs_1260084723	4 SubmittersRCV000547484 RCV001027018 RCV003129903 RCV004568824
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	SNV Germline	Chr4:41747387	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2901525	rs_748614674	4 SubmittersRCV000536791 RCV001021436 RCV003476288 RCV004722895
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)	SNV Germline	Chr4:41748465	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2901603	rs_559227588	4 SubmittersRCV000545357 RCV001011753 RCV003476287 RCV003324762
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)	SNV Germline	Chr2:29220706	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1593836	rs_775768862	3 SubmittersRCV000575880 RCV000685406 RCV003409847
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)	SNV Germline	Chr2:29223363	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1594004	rs_199987354	6 SubmittersRCV000566636 RCV000647454 RCV001354522
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)	SNV Germline	Chr2:29222601	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA1593971	rs_758871506	3 SubmittersRCV000575047 RCV000869370
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	SNV Germline	Chr4:41748384	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Haddad syndrome Congenital central hypoventilation Neuroblastoma, susceptibility to, 2 Condition: not provided PHOX2B-related disorder Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901598	rs_532711949	7 SubmittersRCV000565021 RCV000643944 RCV000764535 RCV002510925 RCV003945354 RCV003471903
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.1148A>T (p.Lys383Met)	SNV Germline	Chr2:29531921	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594761	rs_140928266	5 SubmittersRCV000647404 RCV004948534 RCV003226963
NM_004304.5(ALK):c.941A>G (p.Glu314Gly)	SNV Germline	Chr2:29694861	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594807	rs_778845512	3 SubmittersRCV000647433 RCV004948537
NM_004304.5(ALK):c.822G>A (p.Leu274=)	SNV Germline	Chr2:29694980	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425520848	rs_1265006535	3 SubmittersRCV000647384 RCV004629269
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)	SNV Germline	Chr2:29920044	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594933	rs_141093002	5 SubmittersRCV000647466 RCV002255491 RCV003488760
NM_004304.5(ALK):c.506A>G (p.Asn169Ser)	SNV Germline	Chr2:29920154	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594951	rs_752129360	3 SubmittersRCV000647440 RCV002257901
NM_004304.5(ALK):c.409C>G (p.Arg137Gly)	SNV Germline	Chr2:29920251	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA346590105	rs_757382067	2 SubmittersRCV000647387 RCV004948533
NM_004304.5(ALK):c.357G>T (p.Glu119Asp)	SNV Germline	Chr2:29920303	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA1594995	rs_758250431	5 SubmittersRCV000647455 RCV004025737 RCV003153787 RCV004768506
NM_004304.5(ALK):c.2275G>A (p.Val759Met)	SNV Germline	Chr2:29239760	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1594370	rs_199691702	5 SubmittersRCV000647399 RCV002449060 RCV003117453
NM_004304.5(ALK):c.1911C>T (p.Thr637=)	SNV Germline	Chr2:29275403	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA425619483	rs_1553402750	2 SubmittersRCV000647475 RCV002406431
NM_004304.5(ALK):c.3210G>A (p.Gln1070=)	SNV Germline	Chr2:29223491	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594036	rs_138178848	4 SubmittersRCV000647512 RCV002307573 RCV002449064 RCV003892468
NM_004304.5(ALK):c.397C>T (p.Arg133Cys)	SNV Germline	Chr2:29920263	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1594982	rs_775940832	4 SubmittersRCV000647424 RCV004948535
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)	SNV Germline	Chr2:29296918	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided ALK-related disorder	Criteria Provided Conflicting Classifications	CA1594537	rs_754810505	7 SubmittersRCV000647463 RCV002406428 RCV003106011 RCV004745531
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	Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_753763148	4 SubmittersRCV001021707 RCV000686469 RCV004721549
NM_004304.5(ALK):c.2204+4C>T	SNV Germline	Chr2:29251101	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_201806531	2 SubmittersRCV000696696 RCV004629303
NM_004304.5(ALK):c.760C>T (p.Pro254Ser)	SNV Germline	Chr2:29717605	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_774815140	3 SubmittersRCV000702200 RCV002307602 RCV004948620
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg)	SNV Germline	Chr2:29232313	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_148001139	5 SubmittersRCV000706675 RCV003238195 RCV004949876
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)	SNV Germline	Chr2:29318369	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Familial isolated pituitary adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_758494304	3 SubmittersRCV000703520 RCV000761066 RCV004948625
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)	SNV Germline	Chr2:29717646	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_550608288	3 SubmittersRCV000694546 RCV002369875
NM_004304.5(ALK):c.470C>T (p.Pro157Leu)	SNV Germline	Chr2:29920190	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_775385954	5 SubmittersRCV000690874 RCV002255161 RCV003313133
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)	SNV Germline	Chr2:29193839	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_55782189	3 SubmittersRCV000694794 RCV004948601 RCV001797129
NM_004304.5(ALK):c.4164G>A (p.Gln1388=)	SNV Germline	Chr2:29196770	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_200902932	2 SubmittersRCV000687359 RCV004948572
NM_004304.5(ALK):c.1413C>T (p.Cys471=)	SNV Germline	Chr2:29328351	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_770707805	2 SubmittersRCV000686610 RCV004948570
NM_004304.5(ALK):c.1042G>A (p.Ala348Thr)	SNV Germline	Chr2:29532027	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_763611527	2 SubmittersRCV000687580 RCV004948577
NM_004304.5(ALK):c.833C>T (p.Pro278Leu)	SNV Germline	Chr2:29694969	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_199703254	3 SubmittersRCV000704714 RCV004949871
NM_004304.5(ALK):c.95C>T (p.Pro32Leu)	SNV Germline	Chr2:29920565	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_759748510	2 SubmittersRCV000703099 RCV004948623
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	Neuroblastoma Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_778460384	5 SubmittersRCV000761070 RCV000828033 RCV001202675 RCV002255517
NM_004304.5(ALK):c.2633-3C>T	SNV Germline	Chr2:29229069	Conflicting classifications of pathogenicity	Familial isolated pituitary adenoma Neuroblastoma, susceptibility to, 3 ALK-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_200341945	5 SubmittersRCV001775060 RCV000800831 RCV003975309 RCV004629320 RCV004777860
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	SNV Germline	Chr1:10258524	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Pheochromocytoma Neuroblastoma not specified	Criteria Provided Conflicting Classifications		rs_761343609	4 SubmittersRCV000795601 RCV002291698 RCV001097598 RCV004027530
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys)	SNV Germline	Chr2:29193455	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_763403897	3 SubmittersRCV000824360 RCV002508270 RCV004950013
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 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_377129811	3 SubmittersRCV000799861 RCV003442083 RCV004949926
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.2845G>A (p.Glu949Lys)	SNV Germline	Chr2:29227643	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_774004991	4 SubmittersRCV000816876 RCV004768694 RCV004949991
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 ALK-related disorder	Criteria Provided Conflicting Classifications		rs_61744521	3 SubmittersRCV000811023 RCV003153851 RCV004745604
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 Charcot-Marie-Tooth disease type 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_749154726	5 SubmittersRCV001098680 RCV001172600 RCV001429972 RCV004027697 RCV004546572
NM_004304.5(ALK):c.4809T>C (p.His1603=)	SNV Germline	Chr2:29193278	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_758502850	3 SubmittersRCV000870214 RCV002336819
NM_004304.5(ALK):c.3348C>A (p.Ile1116=)	SNV Germline	Chr2:29223353	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_374587233	3 SubmittersRCV000864385 RCV002319966 RCV004768723
NM_004304.5(ALK):c.3186G>A (p.Lys1062=)	SNV Germline	Chr2:29223515	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1374146241	2 SubmittersRCV001404109 RCV004950029
NM_004304.5(ALK):c.2781G>T (p.Gly927=)	SNV Germline	Chr2:29228918	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1264537420	3 SubmittersRCV001506598 RCV003169183 RCV004721665
NM_004304.5(ALK):c.2736G>A (p.Lys912=)	SNV Germline	Chr2:29228963	Conflicting classifications of pathogenicity	Condition: not provided Neuroblastoma, susceptibility to, 3	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	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1573084845	2 SubmittersRCV000877092 RCV001021474
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	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_752052590	3 SubmittersRCV001039956 RCV001020010
NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)	SNV Germline	Chr2:29193301	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_748822593	2 SubmittersRCV001041589 RCV004950148
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.3179G>A (p.Arg1060His)	SNV Germline	Chr2:29223522	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_769322016	3 SubmittersRCV001051346 RCV004950175 RCV003442174
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	Condition: not provided Neuroblastoma Charcot-Marie-Tooth disease type 2 not specified	Criteria Provided Conflicting Classifications		rs_746980680	4 SubmittersRCV003425921 RCV001102440 RCV002069711 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_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 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1278070199	3 SubmittersRCV001143782 RCV004950300
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)	SNV Germline	Chr2:29296985	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3	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_004304.5(ALK):c.85G>A (p.Ala29Thr)	SNV Germline	Chr2:29920575	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1326321652	2 SubmittersRCV001220993 RCV004951349
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)	SNV Germline	Chr4:41746103	Conflicting classifications of pathogenicity	Haddad syndrome Neuroblastoma, susceptibility to, 2 PHOX2B-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_759792321	4 SubmittersRCV001219764 RCV004570509 RCV004753237 RCV002365993
NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)	SNV Germline	Chr2:29214071	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_752728718	2 SubmittersRCV001213748 RCV002451465
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.4780G>A (p.Glu1594Lys)	SNV Germline	Chr2:29193307	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_767191161	3 SubmittersRCV001314081 RCV004951501
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_004304.5(ALK):c.776G>C (p.Arg259Pro)	SNV Germline	Chr2:29717589	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_138686378	2 SubmittersRCV001324567 RCV004951542
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)	SNV Germline	Chr4:41745807	Pathogenic	Neuroblastoma, susceptibility to, 2	Criteria Provided Single Submitter		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	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1465809492	2 SubmittersRCV001363252 RCV002432023
NM_004304.5(ALK):c.4746C>T (p.Val1582=)	SNV Germline	Chr2:29193341	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1237752481	3 SubmittersRCV001408610 RCV003298675 RCV004774445
NM_004304.5(ALK):c.1096C>T (p.Leu366=)	SNV Germline	Chr2:29531973	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome ALK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_1450281991	4 SubmittersRCV001398373 RCV002449092 RCV003920874 RCV004783968
NM_004304.5(ALK):c.630C>G (p.Ala210=)	SNV Germline	Chr2:29920030	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1337002578	3 SubmittersRCV001418756 RCV002368312 RCV003325575
NM_004304.5(ALK):c.2727C>T (p.Ala909=)	SNV Germline	Chr2:29228972	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1236590521	3 SubmittersRCV001421690 RCV003160690 RCV004779117
NM_004304.5(ALK):c.1311G>A (p.Leu437=)	SNV Germline	Chr2:29328453	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_757241673	3 SubmittersRCV001441854 RCV002384676 RCV003227975
NM_004304.5(ALK):c.1032C>T (p.His344=)	SNV Germline	Chr2:29532037	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2148158695	3 SubmittersRCV001444215 RCV002396026 RCV004762145
NM_004304.5(ALK):c.2028C>T (p.Ile676=)	SNV Germline	Chr2:29275112	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_772973901	3 SubmittersRCV001451109 RCV002421018 RCV004770154
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.3399C>T (p.Gly1133=)	SNV Germline	Chr2:29222568	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1294436101	2 SubmittersRCV001904437 RCV004616802
NM_004304.5(ALK):c.4611A>T (p.Gly1537=)	SNV Germline	Chr2:29193476	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2148137752	2 SubmittersRCV001899932 RCV004946782
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_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)	SNV Germline	Chr1:10365178	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 not specified Neuroblastoma, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_367778973	3 SubmittersRCV001940667 RCV004044011 RCV004785381
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.269C>T (p.Ser90Leu)	SNV Germline	Chr2:29920391	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV003063272 RCV004948954 RCV004775285
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_004304.5(ALK):c.3414G>A (p.Met1138Ile)	SNV Germline	Chr2:29222553	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003518743 RCV004950438
NM_004304.5(ALK):c.4074-5T>C	SNV Germline	Chr2:29196865	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003517035 RCV004634296
NM_004304.5(ALK):c.47C>T (p.Thr16Met)	SNV Germline	Chr2:29920613	Conflicting classifications of pathogenicity	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003876874 RCV004950754

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
KIF1B-related disorder

Criteria Provided
Conflicting Classifications

CA116990

rs_121908162

9 SubmittersRCV000004923 RCV000198737 RCV001098679 RCV001173590 RCV001269366 RCV003237410 RCV004018562 RCV004742212

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_004304.5(ALK):c.3824G>A (p.Arg1275Gln)

SNV
Germline/somatic

Chr2:29209798

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341482

rs_113994087

8 SubmittersRCV000019709 RCV002354167 RCV001268655

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

SNV
Germline

Chr2:29222584

Pathogenic; risk factor

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA341484

rs_113994088

3 SubmittersRCV000019710

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

SNV
Germline

Chr2:29220776

Pathogenic

Neuroblastoma, susceptibility to, 3

Criteria Provided
Single Submitter

CA341486

rs_113994089

3 SubmittersRCV000019711

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

SNV
Germline

Chr2:29222407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341488

rs_113994091

6 SubmittersRCV000019712 RCV001020341 RCV004589517

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

SNV
Germline

Chr2:29223441

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA342013

rs_113994090

6 SubmittersRCV000020581 RCV000997104 RCV003153305 RCV004948136

NM_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
not specified
Condition: not provided
Neuroblastoma
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025874

rs_80359143

15 SubmittersRCV000031777 RCV000128971 RCV000505714 RCV000587937 RCV000761134 RCV000770734 RCV001082957

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

SNV
Germline/somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA345001

rs_281864719

2 SubmittersRCV000055894

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

SNV
Germline

Chr2:29232359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156608

rs_61754865

7 SubmittersRCV000119968 RCV000226467 RCV002255130 RCV003415905

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

SNV
Germline

Chr2:29225553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156617

rs_140733978

8 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

6 SubmittersRCV000119974 RCV000466193 RCV002257414 RCV002508194

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

SNV
Germline

Chr2:29193291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156647

rs_1881423

8 SubmittersRCV000119981 RCV000472979 RCV001356607 RCV002257415 RCV003935135

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

SNV
Germline

Chr2:29193901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156650

rs_201768549

7 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
ALK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156653

rs_56181542

7 SubmittersRCV000119983 RCV000234168 RCV001022153 RCV003952584 RCV003237719

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

SNV
Germline

Chr2:29694870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156656

rs_150966028

10 SubmittersRCV000119984 RCV000233768 RCV001575009 RCV002255291 RCV003905136

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

SNV
Germline

Chr2:29694994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156659

rs_143229596

5 SubmittersRCV000119985 RCV000463094 RCV003126501 RCV004948185

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

SNV
Germline

Chr2:29531969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156662

rs_144030155

7 SubmittersRCV000119986 RCV000460983 RCV002256051 RCV003223611 RCV004745197

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

SNV
Germline

Chr4:41746135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161478

rs_587778606

5 SubmittersRCV000121807 RCV000757604 RCV001210723 RCV002354308 RCV004567052

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
Neuroblastoma
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA233113

rs_200561798

9 SubmittersRCV000143821 RCV001080346 RCV001098766 RCV001174215 RCV004019755

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

SNV
Germline

Chr1:10343244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202589

rs_147318592

10 SubmittersRCV000177655 RCV000198749 RCV000373531 RCV001173612 RCV001706137

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

SNV
Somatic

Chr2:29209789

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279600

rs_863225285

1 SubmittersRCV000201889

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

SNV
Somatic

Chr2:29213992

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279621

rs_863225284

1 SubmittersRCV000201908

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

SNV
Somatic

Chr2:29213993

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279597

rs_863225283

1 SubmittersRCV000201887

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

SNV
Somatic

Chr2:29213994

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA277846

rs_281864720

1 SubmittersRCV000201924

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

SNV
Somatic

Chr2:29214009

Likely pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279618

rs_863225282

1 SubmittersRCV000201906

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

SNV
Somatic

Chr2:29220829

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279616

rs_863225281

1 SubmittersRCV000201904

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

SNV
Somatic

Chr2:29220829

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA279586

rs_863225281

1 SubmittersRCV000201882

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

SNV
Somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA277829

rs_281864719

1 SubmittersRCV000201883

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

SNV
Somatic

Chr2:29220831

Pathogenic

Neuroblastoma, susceptibility to, 3

No Assertion Criteria Provided

CA277834

rs_281864719

1 SubmittersRCV000201918

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

SNV
Germline

Chr2:29193479

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1593529

rs_147241767

3 SubmittersRCV000232180 RCV002338733

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

SNV
Germline

Chr2:29193812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593605

rs_749418931

5 SubmittersRCV000228085 RCV001566391 RCV003417825 RCV004948228

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

SNV
Germline

Chr2:29220752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593854

rs_200585833

7 SubmittersRCV000229337 RCV000573898 RCV002284382 RCV004745300

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

SNV
Germline

Chr2:29223444

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594025

rs_138589984

6 SubmittersRCV000231894 RCV002256164 RCV004725109

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

SNV
Germline

Chr2:29239796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594381

rs_762395127

4 SubmittersRCV000230160 RCV002429113 RCV004767185

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

SNV
Germline

Chr2:29251160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594424

rs_147858673

9 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
Hereditary cancer-predisposing syndrome
ALK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594674

rs_773380015

4 SubmittersRCV000231007 RCV002378996 RCV003417821 RCV004725108

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

SNV
Germline

Chr2:29532002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594770

rs_773367495

4 SubmittersRCV000230394 RCV002411042 RCV004760459

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

SNV
Germline

Chr2:29920188

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594960

rs_536284304

3 SubmittersRCV000231787 RCV004948229

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

SNV
Germline

Chr2:29920191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594963

rs_74774946

8 SubmittersRCV000229990 RCV001022915 RCV001824304 RCV004745302

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

SNV
Germline

Chr2:29920350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595006

rs_576431612

5 SubmittersRCV000229111 RCV002307461 RCV002257559

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

SNV
Germline

Chr4:41745920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2901407

rs_138545772

8 SubmittersRCV000229358 RCV001017576 RCV001391323 RCV001145118 RCV001753699 RCV004800351 RCV003919957

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

SNV
Germline

Chr1:10282440

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA580938

rs_763679404

5 SubmittersRCV000405571 RCV000352133 RCV004021333 RCV004584662 RCV004742372

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

SNV
Germline

Chr1:10256239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA580614

rs_749389756

5 SubmittersRCV000287514 RCV001699285 RCV002518172 RCV003977816

NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)

SNV
Germline

Chr1:10258624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA580664

rs_144889528

4 SubmittersRCV000276770 RCV000327165 RCV000371287 RCV004021329 RCV004584661

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
KIF1B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA582184

rs_145969842

5 SubmittersRCV000373752 RCV000469029 RCV003485573 RCV003417930 RCV004021350

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1593574

rs_141010693

5 SubmittersRCV000469389 RCV002255369 RCV002291619

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

SNV
Germline

Chr2:29193712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593586

rs_372612147

5 SubmittersRCV000555867 RCV002256210 RCV004760482

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

SNV
Germline

Chr2:29920150

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10613155

rs_886055933

3 SubmittersRCV000370379 RCV003352842

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

SNV
Germline

Chr2:29920153

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594950

rs_780271684

2 SubmittersRCV000275905 RCV004021813

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

SNV
Germline

Chr2:29920350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595007

rs_576431612

4 SubmittersRCV000530879 RCV002323541 RCV004725176

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

SNV
Germline

Chr2:29921074

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613172

rs_755231246

2 SubmittersRCV000392419 RCV002263610

NM_004304.5(ALK):c.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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1594812

rs_367712624

6 SubmittersRCV000551970 RCV002255145 RCV004694556

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
PHOX2B-related disorder

Criteria Provided
Conflicting Classifications

CA2901451

rs_751829128

4 SubmittersRCV000293414 RCV000373748 RCV001420995 RCV002379240 RCV004752872

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

SNV
Germline

Chr2:29193292

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593480

rs_373037272

7 SubmittersRCV000470897 RCV002298594 RCV004948298

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

SNV
Germline

Chr2:29193384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593508

rs_763613910

4 SubmittersRCV000458834 RCV004591285 RCV004948295

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

SNV
Germline

Chr2:29193887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593626

rs_143647372

6 SubmittersRCV000471219 RCV003392267 RCV001022040

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

SNV
Germline

Chr2:29239751

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594369

rs_751419856

2 SubmittersRCV000476112 RCV002446771

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

SNV
Germline

Chr2:29275124

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610715

rs_1060500225

2 SubmittersRCV000457475 RCV004948306

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

SNV
Germline

Chr2:29213985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593801

rs_145028315

4 SubmittersRCV000657739 RCV001021020 RCV001086604

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.1999G>A (p.Gly667Arg)

SNV
Germline

Chr2:29275141

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594466

rs_539763601

4 SubmittersRCV000459331 RCV004948296

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

SNV
Germline

Chr2:29297053

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594566

rs_374136388

2 SubmittersRCV000460471 RCV004948302

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

SNV
Germline

Chr2:29297057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594568

rs_769821764

3 SubmittersRCV000467087 RCV002256282 RCV003153651

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

SNV
Germline

Chr2:29920454

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595025

rs_769061878

5 SubmittersRCV000456939 RCV002257684 RCV002291626

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

SNV
Germline

Chr2:29193441

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593523

rs_199646095

4 SubmittersRCV000482658 RCV000462396 RCV002329015

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

SNV
Germline

Chr2:29920584

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610758

rs_1060500214

4 SubmittersRCV000458240 RCV004948299 RCV004591288

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

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

Criteria Provided
Conflicting Classifications

CA1593974

rs_55760835

5 SubmittersRCV000571840 RCV000467869 RCV002473007

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

SNV
Germline

Chr2:29225473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594061

rs_375889530

7 SubmittersRCV000464094 RCV000761163 RCV002256242 RCV002285331

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

SNV
Germline

Chr2:29225500

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594065

rs_200641396

4 SubmittersRCV000462948 RCV002289587 RCV004948297

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

SNV
Germline

Chr2:29225518

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594071

rs_200080181

6 SubmittersRCV000467803 RCV002284391 RCV000761097 RCV004948304

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

SNV
Germline

Chr2:29233636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594321

rs_80227749

5 SubmittersRCV000459873 RCV003409611 RCV004722761 RCV004948300

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

SNV
Germline

Chr2:29275222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594482

rs_144453491

5 SubmittersRCV000474932 RCV002258899 RCV003488597

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

SNV
Germline

Chr2:29383824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594724

rs_368122868

4 SubmittersRCV000462810 RCV004772912 RCV004948308

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

SNV
Germline

Chr2:29694877

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594814

rs_145681577

2 SubmittersRCV000476286 RCV004948301

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

SNV
Germline

Chr2:29694927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594830

rs_149145987

5 SubmittersRCV000473638 RCV002256241 RCV004719821

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

SNV
Germline

Chr2:29694930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594833

rs_572340007

6 SubmittersRCV000465368 RCV003153577 RCV004948305 RCV004760497

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

SNV
Germline

Chr2:29717583

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594870

rs_375097381

5 SubmittersRCV000460065 RCV003401448 RCV003225068 RCV003151057 RCV004948303

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

SNV
Germline

Chr2:29193286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593478

rs_376702277

6 SubmittersRCV000475870 RCV002339111 RCV004591286

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

SNV
Germline

Chr2:29232376

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594263

rs_189078025

3 SubmittersRCV000464123 RCV002451070

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

SNV
Germline

Chr2:29193251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593465

rs_78174819

3 SubmittersRCV000478470 RCV001856865 RCV004948365

NM_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

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

Criteria Provided
Conflicting Classifications

CA580866

rs_150411706

4 SubmittersRCV001099772 RCV000560282 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.4193C>T (p.Pro1398Leu)

SNV
Germline

Chr2:29193894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593630

rs_531490912

5 SubmittersRCV000540490 RCV003226944 RCV004948443

NM_004304.5(ALK):c.2479G>A (p.Val827Ile)

SNV
Germline

Chr2:29233573

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594302

rs_756963896

4 SubmittersRCV000542818 RCV002456188

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

SNV
Germline

Chr2:29239766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594372

rs_371005946

4 SubmittersRCV000528414 RCV003153718 RCV003225087

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

SNV
Germline

Chr2:29296949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594541

rs_75158395

3 SubmittersRCV000555720 RCV003318593 RCV004024155

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

SNV
Germline

Chr2:29320769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594630

rs_201449759

4 SubmittersRCV000532921 RCV003900208 RCV004948439 RCV004719868

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

SNV
Germline

Chr2:29383825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594725

rs_747810439

4 SubmittersRCV000536445 RCV004691890 RCV004948434

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

SNV
Germline

Chr2:29383830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594726

rs_769910087

8 SubmittersRCV000560261 RCV002258962 RCV003325492

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

SNV
Germline

Chr2:29193877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593623

rs_757615099

6 SubmittersRCV000553113 RCV003153719 RCV004024161 RCV004592596

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

SNV
Germline

Chr2:29717666

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594893

rs_778129557

4 SubmittersRCV000559983 RCV004592597 RCV004948445

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

SNV
Germline

Chr2:29920520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595037

rs_541315214

5 SubmittersRCV000551780 RCV001356620 RCV004948438

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

SNV
Germline

Chr2:29920653

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590865

rs_1446332510

3 SubmittersRCV000538902 RCV002420488

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

SNV
Germline

Chr2:29214086

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658655644

rs_1444967093

2 SubmittersRCV000558711 RCV004024159

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

SNV
Germline

Chr2:29227010

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

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

7 SubmittersRCV000731880 RCV001088281 RCV001775059 RCV002257821

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

SNV
Germline

Chr2:29383831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594727

rs_779282861

5 SubmittersRCV000542876 RCV002255453 RCV004772982

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

SNV
Germline

Chr2:29920310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594997

rs_201290745

6 SubmittersRCV000541277 RCV002257825 RCV003159885

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

SNV
Germline

Chr2:29214036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593805

rs_771475772

4 SubmittersRCV000535025 RCV001020893 RCV003332196

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

SNV
Germline

Chr2:29233635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594319

rs_761568836

5 SubmittersRCV000539294 RCV002258963 RCV004592594

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

SNV
Germline

Chr2:29226934

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594108

rs_76742576

3 SubmittersRCV000546699 RCV004948441

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
Condition: not provided
Diffuse midline glioma, H3 K27-altered
ALK-related disorder

Criteria Provided
Conflicting Classifications

CA1594552

rs_762358335

8 SubmittersRCV000525971 RCV002256381 RCV003236815 RCV003313100 RCV003962544

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

SNV
Germline

Chr2:29383735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594707

rs_371652715

4 SubmittersRCV000537783 RCV002384194 RCV004760582

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.661G>C (p.Gly221Arg)

SNV
Germline

Chr2:29919999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594926

rs_199584443

5 SubmittersRCV000560898 RCV001025462 RCV004760585

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

SNV
Germline

Chr2:29920427

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590433

rs_748978993

3 SubmittersRCV000555107 RCV004948440

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

SNV
Germline

Chr2:29920542

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595044

rs_371679329

3 SubmittersRCV000544242 RCV004948435 RCV004722906

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

SNV
Germline

Chr2:29920647

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590852

rs_1272214012

2 SubmittersRCV000534322 RCV004948437

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

SNV
Germline

Chr2:29920553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1595046

rs_773691688

3 SubmittersRCV000525534 RCV002420484 RCV003403320

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

SNV
Germline

Chr4:41745956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA356737122

rs_1260084723

4 SubmittersRCV000547484 RCV001027018 RCV003129903 RCV004568824

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

SNV
Germline

Chr4:41747387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2901525

rs_748614674

4 SubmittersRCV000536791 RCV001021436 RCV003476288 RCV004722895

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

SNV
Germline

Chr4:41748465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2901603

rs_559227588

4 SubmittersRCV000545357 RCV001011753 RCV003476287 RCV003324762

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

SNV
Germline

Chr2:29220706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1593836

rs_775768862

3 SubmittersRCV000575880 RCV000685406 RCV003409847

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

SNV
Germline

Chr2:29223363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594004

rs_199987354

6 SubmittersRCV000566636 RCV000647454 RCV001354522

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

SNV
Germline

Chr2:29222601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA1593971

rs_758871506

3 SubmittersRCV000575047 RCV000869370

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

SNV
Germline

Chr4:41748384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2901598

rs_532711949

7 SubmittersRCV000565021 RCV000643944 RCV000764535 RCV002510925 RCV003945354 RCV003471903

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.1148A>T (p.Lys383Met)

SNV
Germline

Chr2:29531921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594761

rs_140928266

5 SubmittersRCV000647404 RCV004948534 RCV003226963

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

SNV
Germline

Chr2:29694861

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594807

rs_778845512

3 SubmittersRCV000647433 RCV004948537

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

SNV
Germline

Chr2:29694980

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425520848

rs_1265006535

3 SubmittersRCV000647384 RCV004629269

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

SNV
Germline

Chr2:29920044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594933

rs_141093002

5 SubmittersRCV000647466 RCV002255491 RCV003488760

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

SNV
Germline

Chr2:29920154

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594951

rs_752129360

3 SubmittersRCV000647440 RCV002257901

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

SNV
Germline

Chr2:29920251

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346590105

rs_757382067

2 SubmittersRCV000647387 RCV004948533

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

SNV
Germline

Chr2:29920303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594995

rs_758250431

5 SubmittersRCV000647455 RCV004025737 RCV003153787 RCV004768506

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

SNV
Germline

Chr2:29239760

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594370

rs_199691702

5 SubmittersRCV000647399 RCV002449060 RCV003117453

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

SNV
Germline

Chr2:29275403

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425619483

rs_1553402750

2 SubmittersRCV000647475 RCV002406431

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

SNV
Germline

Chr2:29223491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594036

rs_138178848

4 SubmittersRCV000647512 RCV002307573 RCV002449064 RCV003892468

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

SNV
Germline

Chr2:29920263

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1594982

rs_775940832

4 SubmittersRCV000647424 RCV004948535

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

SNV
Germline

Chr2:29296918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1594537

rs_754810505

7 SubmittersRCV000647463 RCV002406428 RCV003106011 RCV004745531

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

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

Criteria Provided
Conflicting Classifications

rs_753763148

4 SubmittersRCV001021707 RCV000686469 RCV004721549

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

SNV
Germline

Chr2:29251101

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_201806531

2 SubmittersRCV000696696 RCV004629303

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

SNV
Germline

Chr2:29717605

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774815140

3 SubmittersRCV000702200 RCV002307602 RCV004948620

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

SNV
Germline

Chr2:29232313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_148001139

5 SubmittersRCV000706675 RCV003238195 RCV004949876

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

SNV
Germline

Chr2:29318369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_758494304

3 SubmittersRCV000703520 RCV000761066 RCV004948625

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

SNV
Germline

Chr2:29717646

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_550608288

3 SubmittersRCV000694546 RCV002369875

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

SNV
Germline

Chr2:29920190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_775385954

5 SubmittersRCV000690874 RCV002255161 RCV003313133

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

SNV
Germline

Chr2:29193839

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_55782189

3 SubmittersRCV000694794 RCV004948601 RCV001797129

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

SNV
Germline

Chr2:29196770

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_200902932

2 SubmittersRCV000687359 RCV004948572

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

SNV
Germline

Chr2:29328351

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_770707805

2 SubmittersRCV000686610 RCV004948570

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

SNV
Germline

Chr2:29532027

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_763611527

2 SubmittersRCV000687580 RCV004948577

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

SNV
Germline

Chr2:29694969

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_199703254

3 SubmittersRCV000704714 RCV004949871

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

SNV
Germline

Chr2:29920565

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_759748510

2 SubmittersRCV000703099 RCV004948623

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

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

Criteria Provided
Conflicting Classifications

rs_778460384

5 SubmittersRCV000761070 RCV000828033 RCV001202675 RCV002255517

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

SNV
Germline

Chr2:29229069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200341945

5 SubmittersRCV001775060 RCV000800831 RCV003975309 RCV004629320 RCV004777860

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

SNV
Germline

Chr1:10258524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_761343609

4 SubmittersRCV000795601 RCV002291698 RCV001097598 RCV004027530

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

SNV
Germline

Chr2:29193455

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_763403897

3 SubmittersRCV000824360 RCV002508270 RCV004950013

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_377129811

3 SubmittersRCV000799861 RCV003442083 RCV004949926

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.2845G>A (p.Glu949Lys)

SNV
Germline

Chr2:29227643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774004991

4 SubmittersRCV000816876 RCV004768694 RCV004949991

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
ALK-related disorder

Criteria Provided
Conflicting Classifications

rs_61744521

3 SubmittersRCV000811023 RCV003153851 RCV004745604

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

Criteria Provided
Conflicting Classifications

rs_749154726

5 SubmittersRCV001098680 RCV001172600 RCV001429972 RCV004027697 RCV004546572

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

SNV
Germline

Chr2:29193278

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_758502850

3 SubmittersRCV000870214 RCV002336819

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

SNV
Germline

Chr2:29223353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374587233

3 SubmittersRCV000864385 RCV002319966 RCV004768723

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

SNV
Germline

Chr2:29223515

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1374146241

2 SubmittersRCV001404109 RCV004950029

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

SNV
Germline

Chr2:29228918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1264537420

3 SubmittersRCV001506598 RCV003169183 RCV004721665

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

SNV
Germline

Chr2:29228963

Conflicting classifications of pathogenicity

Condition: not provided
Neuroblastoma, susceptibility to, 3

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

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1573084845

2 SubmittersRCV000877092 RCV001021474

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

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_752052590

3 SubmittersRCV001039956 RCV001020010

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

SNV
Germline

Chr2:29193301

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_748822593

2 SubmittersRCV001041589 RCV004950148

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.3179G>A (p.Arg1060His)

SNV
Germline

Chr2:29223522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_769322016

3 SubmittersRCV001051346 RCV004950175 RCV003442174

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

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

Criteria Provided
Conflicting Classifications

rs_746980680

4 SubmittersRCV003425921 RCV001102440 RCV002069711 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_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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1278070199

3 SubmittersRCV001143782 RCV004950300

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

SNV
Germline

Chr2:29296985

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3

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_004304.5(ALK):c.85G>A (p.Ala29Thr)

SNV
Germline

Chr2:29920575

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1326321652

2 SubmittersRCV001220993 RCV004951349

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

SNV
Germline

Chr4:41746103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759792321

4 SubmittersRCV001219764 RCV004570509 RCV004753237 RCV002365993

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

SNV
Germline

Chr2:29214071

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_752728718

2 SubmittersRCV001213748 RCV002451465

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.4780G>A (p.Glu1594Lys)

SNV
Germline

Chr2:29193307

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_767191161

3 SubmittersRCV001314081 RCV004951501

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_004304.5(ALK):c.776G>C (p.Arg259Pro)

SNV
Germline

Chr2:29717589

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_138686378

2 SubmittersRCV001324567 RCV004951542

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

SNV
Germline

Chr4:41745807

Pathogenic

Neuroblastoma, susceptibility to, 2

Criteria Provided
Single Submitter

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

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1465809492

2 SubmittersRCV001363252 RCV002432023

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

SNV
Germline

Chr2:29193341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1237752481

3 SubmittersRCV001408610 RCV003298675 RCV004774445

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

SNV
Germline

Chr2:29531973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1450281991

4 SubmittersRCV001398373 RCV002449092 RCV003920874 RCV004783968

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

SNV
Germline

Chr2:29920030

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1337002578

3 SubmittersRCV001418756 RCV002368312 RCV003325575

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

SNV
Germline

Chr2:29228972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1236590521

3 SubmittersRCV001421690 RCV003160690 RCV004779117

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

SNV
Germline

Chr2:29328453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757241673

3 SubmittersRCV001441854 RCV002384676 RCV003227975

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

SNV
Germline

Chr2:29532037

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2148158695

3 SubmittersRCV001444215 RCV002396026 RCV004762145

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

SNV
Germline

Chr2:29275112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_772973901

3 SubmittersRCV001451109 RCV002421018 RCV004770154

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.3399C>T (p.Gly1133=)

SNV
Germline

Chr2:29222568

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1294436101

2 SubmittersRCV001904437 RCV004616802

NM_004304.5(ALK):c.4611A>T (p.Gly1537=)

SNV
Germline

Chr2:29193476

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2148137752

2 SubmittersRCV001899932 RCV004946782

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_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)

SNV
Germline

Chr1:10365178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_367778973

3 SubmittersRCV001940667 RCV004044011 RCV004785381

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.269C>T (p.Ser90Leu)

SNV
Germline

Chr2:29920391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003063272 RCV004948954 RCV004775285

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_004304.5(ALK):c.3414G>A (p.Met1138Ile)

SNV
Germline

Chr2:29222553

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003518743 RCV004950438

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

SNV
Germline

Chr2:29196865

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003517035 RCV004634296

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

SNV
Germline

Chr2:29920613

Conflicting classifications of pathogenicity

Neuroblastoma, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003876874 RCV004950754