Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002529.4(NTRK1):c.2046+3A>C	SNV Germline	Chr1:156879365	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_914061514	2 SubmittersRCV000013095
NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg)	SNV Germline	Chr1:156876496	Pathogenic	Hereditary insensitivity to pain with anhidrosis	No Assertion Criteria Provided	CA256262	rs_121964866	1 SubmittersRCV000013096
NM_002529.4(NTRK1):c.2339G>C (p.Arg780Pro)	SNV Germline	Chr1:156881590	Pathogenic	Hereditary insensitivity to pain with anhidrosis	No Assertion Criteria Provided	CA256268	rs_35669708	1 SubmittersRCV000013097
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)	SNV Germline	Chr1:156880036	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA256288	rs_121964868	3 SubmittersRCV000013103
NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys)	SNV Germline	Chr1:156873858	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA256294	rs_121964869	2 SubmittersRCV000013104 RCV000789504
NM_002529.4(NTRK1):c.1759A>G (p.Met587Val)	SNV Germline	Chr1:156876526	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA256300	rs_121964870	2 SubmittersRCV000013105
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)	SNV Germline	Chr1:156879336	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts	CA341877	rs_80356677	5 SubmittersRCV000020470
NM_002529.4(NTRK1):c.851-33T>A	SNV Germline	Chr1:156873600	Pathogenic	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204920	rs_80356674	8 SubmittersRCV000020471 RCV000190819 RCV002468974
NM_002529.4(NTRK1):c.717+4A>T	SNV Germline	Chr1:156868651	Pathogenic	Hereditary insensitivity to pain with anhidrosis	No Assertion Criteria Provided	CA272997	rs_606231466	1 SubmittersRCV000148945
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)	SNV Germline	Chr1:156876128	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA272998	rs_606231467	2 SubmittersRCV000148946
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln)	SNV Germline	Chr1:156879262	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA235758	rs_786205449	2 SubmittersRCV000171160 RCV001235402
NM_002529.4(NTRK1):c.360-2A>C	SNV Germline	Chr1:156866908	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts	CA276147	rs_797045059	3 SubmittersRCV000191113
NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro)	SNV Germline	Chr1:156873822	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA276148	rs_797045060	1 SubmittersRCV000191114
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	SNV Germline	Chr1:156860950	Conflicting classifications of pathogenicity	not specified Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1168813	rs_201472270	13 SubmittersRCV000220958 RCV000299635 RCV000755590 RCV002408936 RCV003947731
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)	SNV Germline	Chr1:156876428	Conflicting classifications of pathogenicity	Condition: not provided Familial medullary thyroid carcinoma Inborn genetic diseases Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA1169434	rs_764417252	5 SubmittersRCV000221544 RCV000708820 RCV002399797 RCV001276831
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)	SNV Germline	Chr1:156881590	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary insensitivity to pain with anhidrosis NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169637	rs_35669708	12 SubmittersRCV000224279 RCV000236228 RCV000545651 RCV003929930
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)	SNV Germline	Chr1:156868145	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1168991	rs_141021604	5 SubmittersRCV000235585 RCV000509462 RCV002338770
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)	SNV Germline	Chr1:156868201	Pathogenic	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts	CA10584138	rs_879253889	5 SubmittersRCV000236167 RCV000985097
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	SNV Germline	Chr1:156873647	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis not specified Hereditary cancer Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169134	rs_137979116	10 SubmittersRCV000236758 RCV000284934 RCV001658074 RCV003492017 RCV002374386 RCV003919995
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)	SNV Germline	Chr1:156873722	Conflicting classifications of pathogenicity	Condition: not provided Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA1169147	rs_137994522	4 SubmittersRCV000237064 RCV000708814 RCV001079270
NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter)	SNV Germline	Chr1:156875609	Pathogenic	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts	CA10584140	rs_879253890	2 SubmittersRCV000235671 RCV003987474
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)	SNV Germline	Chr1:156860944	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA10606463	rs_556840308	4 SubmittersRCV000346219 RCV001085520 RCV002429232 RCV003967790
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	SNV Germline	Chr1:156861091	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1168828	rs_200815412	7 SubmittersRCV000356782 RCV001532556 RCV002402008 RCV003957531
NM_002529.4(NTRK1):c.212+10C>T	SNV Germline	Chr1:156861156	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1168839	rs_183517027	6 SubmittersRCV000259624 RCV000440141 RCV001706433
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	SNV Germline	Chr1:156879124	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Familial medullary thyroid carcinoma Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169498	rs_188270548	10 SubmittersRCV000366642 RCV000591215 RCV000708821 RCV002411184
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)	SNV Germline	Chr1:156879311	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169526	rs_553270591	4 SubmittersRCV000321020 RCV002418143
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)	SNV Germline	Chr1:156866925	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1168942	rs_757803799	4 SubmittersRCV000274129 RCV002365331
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)	SNV Germline	Chr1:156868184	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169004	rs_201503610	6 SubmittersRCV000383811 RCV000596082 RCV002338871
NM_002529.4(NTRK1):c.585G>A (p.Thr195=)	SNV Germline	Chr1:156868515	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169051	rs_182531655	7 SubmittersRCV000325504 RCV001576585 RCV002356403 RCV003967821
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)	SNV Germline	Chr1:156868561	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169060	rs_201192875	5 SubmittersRCV000382485 RCV001509069 RCV002365332
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)	SNV Germline	Chr1:156868571	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169063	rs_200132482	6 SubmittersRCV000285911 RCV000489659 RCV002365333
NM_002529.4(NTRK1):c.1252-15C>G	SNV Germline	Chr1:156874891	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis not specified	Criteria Provided Conflicting Classifications	CA1169262	rs_186649954	4 SubmittersRCV000297900 RCV000444270
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)	SNV Germline	Chr1:156868245	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169019	rs_138608619	7 SubmittersRCV000291812 RCV000708810 RCV001509068 RCV002348032 RCV003897665
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)	SNV Germline	Chr1:156868588	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA1169065	rs_202030811	2 SubmittersRCV000343152
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)	SNV Germline	Chr1:156881606	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169639	rs_772156529	3 SubmittersRCV000351346 RCV002446538
NM_002529.4(NTRK1):c.*6C>T	SNV Germline	Chr1:156881648	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA1169650	rs_370807813	3 SubmittersRCV000400460 RCV000598277
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)	SNV Germline	Chr1:156876100	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis not specified Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169373	rs_200575096	5 SubmittersRCV000391150 RCV000608164 RCV002392824 RCV003957532
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)	SNV Germline	Chr1:156880121	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1169582	rs_140852621	5 SubmittersRCV000338627 RCV000426510 RCV002429243 RCV003884447
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)	SNV Germline	Chr1:156879224	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA1169513	rs_17838192	8 SubmittersRCV000524698 RCV001080490
NM_002529.4(NTRK1):c.630C>T (p.Asp210=)	SNV Germline	Chr1:156868560	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169059	rs_147882947	6 SubmittersRCV000551084 RCV001703479 RCV002365473 RCV003922714
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)	SNV Germline	Chr1:156868157	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis Hereditary cancer	Criteria Provided Conflicting Classifications	CA1168994	rs_150271893	6 SubmittersRCV000431011 RCV000547738 RCV003492037
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)	SNV Germline	Chr1:156873850	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169178	rs_145823996	8 SubmittersRCV000432784 RCV000631344 RCV001086612 RCV002411348 RCV003970169
NM_002529.4(NTRK1):c.632T>A (p.Val211Glu)	SNV Germline	Chr1:156868562	Likely pathogenic	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA16617006	rs_1064793219	2 SubmittersRCV000484442 RCV001828497
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)	SNV Germline	Chr1:156875639	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications	CA1169334	rs_144901788	8 SubmittersRCV000486476 RCV000631332 RCV000789503 RCV003317235
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)	SNV Germline	Chr1:156874392	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA1169221	rs_199646180	3 SubmittersRCV000555707 RCV000708816 RCV003409766
NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	SNV Germline	Chr1:156864751	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1168910	rs_578095133	6 SubmittersRCV000538023 RCV001726213 RCV002323917
NM_002529.4(NTRK1):c.295G>A (p.Val99Met)	SNV Germline	Chr1:156864735	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1168904	rs_201509045	3 SubmittersRCV000559579 RCV001532557 RCV002438295
NM_002529.4(NTRK1):c.2046+1G>T	SNV Germline	Chr1:156879363	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter	CA342940136	rs_1452844753	1 SubmittersRCV000539540
NM_002529.4(NTRK1):c.279G>A (p.Leu93=)	SNV Germline	Chr1:156864420	Conflicting classifications of pathogenicity	not specified Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1168874	rs_147983523	5 SubmittersRCV000601111 RCV000631348 RCV001310876 RCV002438596
NM_002529.4(NTRK1):c.711G>A (p.Thr237=)	SNV Germline	Chr1:156868641	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169069	rs_537430475	4 SubmittersRCV000631351 RCV001698032 RCV002368096
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg)	SNV Germline	Chr1:156868246	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA31108387	rs_1026300967	3 SubmittersRCV000622925 RCV002248821 RCV002531896
NM_002529.4(NTRK1):c.2206-11G>A	SNV Germline	Chr1:156881446	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA658795536	rs_1553263326	2 SubmittersRCV000624785 RCV002531895
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)	SNV Germline	Chr1:156868568	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA1169061	rs_747711259	6 SubmittersRCV000631337 RCV000790288 RCV002360506
NM_002529.4(NTRK1):c.1741G>A (p.Glu581Lys)	SNV Germline	Chr1:156876508	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169456	rs_150579345	4 SubmittersRCV000631329 RCV001796146 RCV002404736
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)	SNV Germline	Chr1:156876545	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169464	rs_748133401	3 SubmittersRCV000631318 RCV002404734
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)	SNV Germline	Chr1:156868505	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1169049	rs_201185829	5 SubmittersRCV000631349 RCV002343202 RCV003326479
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp)	SNV Germline	Chr1:156868570	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1169062	rs_372041586	6 SubmittersRCV000631334 RCV002360505 RCV004791642
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)	SNV Germline	Chr1:156876563	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169469	rs_775718859	3 SubmittersRCV000631322 RCV002404735
NM_002529.4(NTRK1):c.1522C>T (p.Arg508Trp)	SNV Germline	Chr1:156876100	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169372	rs_200575096	2 SubmittersRCV000631338 RCV002388005
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys)	SNV Germline	Chr1:156880071	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Premature ovarian failure not specified	Criteria Provided Conflicting Classifications	CA1169571	rs_747855434	5 SubmittersRCV000631320 RCV001270189 RCV004525991
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)	SNV Germline	Chr1:156881532	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_759637817	5 SubmittersRCV000674105 RCV002442399
NM_002529.4(NTRK1):c.1196-1G>A	SNV Germline	Chr1:156874570	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_764171953	3 SubmittersRCV000668622
NM_002529.4(NTRK1):c.424G>T (p.Glu142Ter)	SNV Germline	Chr1:156866974	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_370483210	1 SubmittersRCV000691155
NM_002529.4(NTRK1):c.1301C>T (p.Thr434Met)	SNV Germline	Chr1:156874955	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_771342578	3 SubmittersRCV000689778 RCV002386184
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)	SNV Germline	Chr1:156880095	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_759190964	2 SubmittersRCV000691409
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)	SNV Germline	Chr1:156879255	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_142870382	4 SubmittersRCV000685871 RCV002406534 RCV003884703
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	SNV Germline	Chr1:156864394	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_543320028	7 SubmittersRCV000789505 RCV000986439 RCV001585661 RCV002424729
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)	SNV Germline	Chr1:156868514	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_552776147	4 SubmittersRCV000796733 RCV002352226
NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro)	SNV Germline	Chr1:156873819	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_150651692	2 SubmittersRCV000712452 RCV002534507
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter)	SNV Germline	Chr1:156876571	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_763758904	7 SubmittersRCV000760429 RCV000789608 RCV001222355
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys)	SNV Germline	Chr1:156879276	Pathogenic	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_764992664	6 SubmittersRCV000789609 RCV001381359
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr1:156881554	Pathogenic	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_756981419	3 SubmittersRCV000789685 RCV000820283
NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter)	SNV Germline	Chr1:156881559	Pathogenic	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_764816792	2 SubmittersRCV000789507 RCV002535803
NM_002529.4(NTRK1):c.429-1G>C	SNV Germline	Chr1:156868103	Pathogenic	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1	Criteria Provided Multiple Submitters No Conflicts		rs_748672380	3 SubmittersRCV000789673 RCV001329488 RCV004798874
NM_002529.4(NTRK1):c.574+1G>A	SNV Germline	Chr1:156868250	Pathogenic	Charcot-Marie-Tooth disease Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_1232901259	4 SubmittersRCV000789502 RCV001218483
NM_002529.4(NTRK1):c.396G>A (p.Trp132Ter)	SNV Germline	Chr1:156866946	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_747976486	1 SubmittersRCV000813929
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter)	SNV Germline	Chr1:156868213	Pathogenic	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1571689751	3 SubmittersRCV000816391 RCV002345871
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)	SNV Germline	Chr1:156868532	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_146201511	4 SubmittersRCV000810037 RCV002352400
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)	SNV Germline	Chr1:156871713	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_145222195	3 SubmittersRCV000823933 RCV002307632
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)	SNV Germline	Chr1:156874612	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199826686	3 SubmittersRCV000795187 RCV002360920
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)	SNV Germline	Chr1:156864360	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_563296138	4 SubmittersRCV000876073 RCV002539999
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)	SNV Germline	Chr1:156864797	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_149960336	3 SubmittersRCV000876787
NM_002529.4(NTRK1):c.1803C>G (p.Leu601=)	SNV Germline	Chr1:156876570	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_146129485	3 SubmittersRCV000874023 RCV001580553
NM_002529.4(NTRK1):c.2047-8C>T	SNV Germline	Chr1:156879991	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_769308621	2 SubmittersRCV000877061
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)	SNV Germline	Chr1:156880065	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200935209	3 SubmittersRCV000945399 RCV002416216
NM_002529.4(NTRK1):c.1189C>A (p.Pro397Thr)	SNV Germline	Chr1:156874394	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_767630555	2 SubmittersRCV001439919 RCV002542088
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)	SNV Germline	Chr1:156880122	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_763122825	3 SubmittersRCV001030785
NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)	SNV Germline	Chr1:156861037	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1204319733	3 SubmittersRCV001050651 RCV003283904
NM_002529.4(NTRK1):c.478C>T (p.Gln160Ter)	SNV Germline	Chr1:156868153	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1647277529	1 SubmittersRCV001059110
NM_002529.4(NTRK1):c.867G>C (p.Gln289His)	SNV Germline	Chr1:156873649	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1647699293	2 SubmittersRCV001041765 RCV002445233
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp)	SNV Germline	Chr1:156879261	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis NTRK1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_369353892	4 SubmittersRCV001035125 RCV003411959
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)	SNV Germline	Chr1:156881482	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided NTRK1-related disorder	Criteria Provided Conflicting Classifications		rs_751281792	4 SubmittersRCV001048568 RCV001310878 RCV003953444
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)	SNV Germline	Chr1:156881563	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_780724170	2 SubmittersRCV001064041
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)	SNV Germline	Chr1:156864766	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_141592864	2 SubmittersRCV001101575
NM_002529.4(NTRK1):c.468G>C (p.Leu156=)	SNV Germline	Chr1:156868143	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_991397214	2 SubmittersRCV001096153
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)	SNV Germline	Chr1:156873787	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_780334454	3 SubmittersRCV001099693 RCV003326538
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)	SNV Germline	Chr1:156876413	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_763247367	2 SubmittersRCV001101683
NM_002529.4(NTRK1):c.1917G>A (p.Val639=)	SNV Germline	Chr1:156879233	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_760171782	2 SubmittersRCV001098002
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)	SNV Germline	Chr1:156881465	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_1648253157	2 SubmittersRCV001099783
NM_002529.4(NTRK1):c.213-5C>G	SNV Germline	Chr1:156864349	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_757323460	2 SubmittersRCV001099603
NM_002529.4(NTRK1):c.288-5C>T	SNV Germline	Chr1:156864723	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200860423	4 SubmittersRCV001101574 RCV002436704
NM_002529.4(NTRK1):c.575-15G>A	SNV Germline	Chr1:156868490	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_762788551	2 SubmittersRCV001096154
NM_002529.4(NTRK1):c.850+11G>A	SNV Germline	Chr1:156871766	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_372293237	2 SubmittersRCV001099692
NM_002529.4(NTRK1):c.1196-11T>C	SNV Germline	Chr1:156874560	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_1024148691	2 SubmittersRCV001099694
NM_002529.4(NTRK1):c.1252-6C>G	SNV Germline	Chr1:156874900	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776728101	4 SubmittersRCV001101681 RCV003363109
NM_002529.4(NTRK1):c.2205+13C>A	SNV Germline	Chr1:156880170	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications		rs_1648175536	2 SubmittersRCV001099782
NM_002529.4(NTRK1):c.1A>C (p.Met1Leu)	SNV Unknown	Chr1:156860935	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1655612629	1 SubmittersRCV001197778
NM_002529.4(NTRK1):c.1287C>A (p.Cys429Ter)	SNV Germline	Chr1:156874941	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_1647805941	2 SubmittersRCV001205093
NM_002529.4(NTRK1):c.1354+1G>T	SNV Germline	Chr1:156875009	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_764771898	3 SubmittersRCV001212380
NM_002529.4(NTRK1):c.718-1G>A	SNV Germline	Chr1:156871622	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1474214658	1 SubmittersRCV001220349
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)	SNV Germline	Chr1:156868606	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_760918699	3 SubmittersRCV001248539 RCV004960657
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	SNV Germline	Chr1:156871723	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_200305545	4 SubmittersRCV001243110 RCV004793346
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)	SNV Germline	Chr1:156874974	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147443162	4 SubmittersRCV001241331 RCV001569507 RCV002379925
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)	SNV Germline	Chr1:156881589	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_537948663	3 SubmittersRCV001246469 RCV002451602
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)	SNV Germline	Chr1:156876535	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma	No Assertion Criteria Provided		rs_1647927494	1 SubmittersRCV001257443
NM_002529.4(NTRK1):c.1501+1G>A	SNV Germline	Chr1:156875667	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_1647858636	3 SubmittersRCV001378124 RCV001587384
NM_002529.4(NTRK1):c.229C>T (p.Gln77Ter)	SNV Germline	Chr1:156864370	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102885187	1 SubmittersRCV001384843
NM_002529.4(NTRK1):c.575-19G>A	SNV Germline	Chr1:156868486	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_370828525	4 SubmittersRCV001386283 RCV002280181
NM_002529.4(NTRK1):c.2133G>A (p.Trp711Ter)	SNV Germline	Chr1:156880085	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1393272944	1 SubmittersRCV001389855
NM_002529.4(NTRK1):c.563A>G (p.Asn188Ser)	SNV Germline	Chr1:156868238	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_531080009	2 SubmittersRCV001487519 RCV002562715
NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter)	SNV Germline	Chr1:156880121	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_140852621	1 SubmittersRCV001580750
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln)	SNV Germline	Chr1:156876572	Pathogenic	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_1647932465	5 SubmittersRCV001700866 RCV002538629
NM_002529.4(NTRK1):c.429-1G>A	SNV Germline	Chr1:156868103	Pathogenic/Likely pathogenic	Condition: not provided Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_748672380	3 SubmittersRCV001756426 RCV002539867
NM_002529.4(NTRK1):c.1354+1G>A	SNV Germline	Chr1:156875009	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts		rs_764771898	3 SubmittersRCV001784762
NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys)	SNV Germline	Chr1:156880026	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis not specified	Criteria Provided Conflicting Classifications		rs_761967383	3 SubmittersRCV001958041 RCV004699572
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)	SNV Germline	Chr1:156881562	Pathogenic/Likely pathogenic	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1324983370	2 SubmittersRCV001912697 RCV004041645
NM_002529.4(NTRK1):c.2078G>A (p.Trp693Ter)	SNV Germline	Chr1:156880030	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1648162011	1 SubmittersRCV001950603
NM_002529.4(NTRK1):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:156860937	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102878843	1 SubmittersRCV001985821
NM_002529.4(NTRK1):c.851-2A>C	SNV Germline	Chr1:156873631	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102904669	1 SubmittersRCV002008582
NM_002529.4(NTRK1):c.850+1G>C	SNV Germline	Chr1:156871756	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1647569895	1 SubmittersRCV001916588
NM_002529.4(NTRK1):c.1961G>A (p.Arg654His)	SNV Germline	Chr1:156879277	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_750168062	1 SubmittersRCV002041093
NM_002529.4(NTRK1):c.595C>T (p.Gln199Ter)	SNV Germline	Chr1:156868525	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102894271	1 SubmittersRCV001909791
NM_002529.4(NTRK1):c.1438G>T (p.Glu480Ter)	SNV Germline	Chr1:156875603	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_139731614	1 SubmittersRCV001993387
NM_002529.4(NTRK1):c.1501+2T>G	SNV Germline	Chr1:156875668	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102915741	1 SubmittersRCV001989005
NM_002529.4(NTRK1):c.850+1G>A	SNV Germline	Chr1:156871756	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1647569895	1 SubmittersRCV001956056
NM_002529.4(NTRK1):c.1981G>T (p.Gly661Ter)	SNV Germline	Chr1:156879297	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1310506980	1 SubmittersRCV001944254
NM_002529.4(NTRK1):c.1633-1G>A	SNV Germline	Chr1:156876399	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_1571699664	1 SubmittersRCV001983045
NM_002529.4(NTRK1):c.359+1G>C	SNV Germline	Chr1:156864800	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter		rs_2102886311	1 SubmittersRCV002011006
NM_002529.4(NTRK1):c.2282G>A (p.Arg761Gln)	SNV Germline	Chr1:156881533	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_201891311	2 SubmittersRCV002104476 RCV002261453
NM_002529.4(NTRK1):c.360-5C>T	SNV Germline	Chr1:156866905	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_377069358	2 SubmittersRCV002108344 RCV003992615
NM_002529.4(NTRK1):c.1077C>G (p.Tyr359Ter)	SNV Germline	Chr1:156873859	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002289279
NM_002529.4(NTRK1):c.424G>A (p.Glu142Lys)	SNV Germline	Chr1:156866974	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002329846 RCV003094607
NM_002529.4(NTRK1):c.617A>T (p.Asp206Val)	SNV Germline	Chr1:156868547	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002353752 RCV003098158
NM_002529.4(NTRK1):c.2104C>T (p.Arg702Cys)	SNV Germline	Chr1:156880056	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002423954 RCV003098605
NM_002529.4(NTRK1):c.1876C>T (p.Gln626Ter)	SNV Germline	Chr1:156879192	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003077436
NM_002529.4(NTRK1):c.2075G>A (p.Arg692His)	SNV Germline	Chr1:156880027	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003085895
NM_002529.4(NTRK1):c.1456C>A (p.Leu486Ile)	SNV Germline	Chr1:156875621	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002591919 RCV002591920
NM_002529.4(NTRK1):c.1843G>T (p.Glu615Ter)	SNV Germline	Chr1:156879159	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002664188
NM_002529.4(NTRK1):c.574+1G>T	SNV Germline	Chr1:156868250	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002574813
NM_002529.4(NTRK1):c.226C>T (p.Gln76Ter)	SNV Germline	Chr1:156864367	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002618849
NM_002529.4(NTRK1):c.1961G>C (p.Arg654Pro)	SNV Germline	Chr1:156879277	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002716418
NM_002529.4(NTRK1):c.2233G>T (p.Glu745Ter)	SNV Germline	Chr1:156881484	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002755377
NM_002529.4(NTRK1):c.1251+1G>A	SNV Germline	Chr1:156874627	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002770736
NM_002529.4(NTRK1):c.1251+1G>T	SNV Germline	Chr1:156874627	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002863761
NM_002529.4(NTRK1):c.446C>A (p.Pro149His)	SNV Germline	Chr1:156868121	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002903438 RCV003250608
NM_002529.4(NTRK1):c.1729G>A (p.Gly577Ser)	SNV Germline	Chr1:156876496	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002886362
NM_002529.4(NTRK1):c.1741G>T (p.Glu581Ter)	SNV Germline	Chr1:156876508	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002923641
NM_002529.4(NTRK1):c.922C>T (p.Gln308Ter)	SNV Germline	Chr1:156873704	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV002962120
NM_002529.4(NTRK1):c.274G>T (p.Glu92Ter)	SNV Germline	Chr1:156864415	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003025988
NM_002529.4(NTRK1):c.2140G>A (p.Gly714Ser)	SNV Germline	Chr1:156880092	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003236469
NM_002529.4(NTRK1):c.574+2T>C	SNV Germline	Chr1:156868251	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003340887
NM_002529.4(NTRK1):c.213-1G>A	SNV Germline	Chr1:156864353	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003512411
NM_002529.4(NTRK1):c.360-2A>G	SNV Germline	Chr1:156866908	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003513337
NM_002529.4(NTRK1):c.1773T>G (p.Tyr591Ter)	SNV Germline	Chr1:156876540	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003512571
NM_002529.4(NTRK1):c.1354+1G>C	SNV Germline	Chr1:156875009	Pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003512697
NM_002529.4(NTRK1):c.212+2T>C	SNV Germline	Chr1:156861148	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003623941
NM_002529.4(NTRK1):c.2047-1G>A	SNV Germline	Chr1:156879998	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003624368
NM_002529.4(NTRK1):c.212+2T>G	SNV Germline	Chr1:156861148	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV003832357
NM_002529.4(NTRK1):c.2T>A (p.Met1Lys)	SNV Germline	Chr1:156860936	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV004515796
NM_002529.4(NTRK1):c.850+5G>A	SNV Germline	Chr1:156871760	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	No Assertion Criteria Provided			1 SubmittersRCV004006234
NM_002529.4(NTRK1):c.2099T>C (p.Leu700Pro)	SNV Germline	Chr1:156880051	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV004527536
NM_002529.4(NTRK1):c.2143G>C (p.Val715Leu)	SNV Germline	Chr1:156880095	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis	Criteria Provided Single Submitter			1 SubmittersRCV004586251

NM_002529.4(NTRK1):c.2046+3A>C

SNV
Germline

Chr1:156879365

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_914061514

2 SubmittersRCV000013095

NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg)

SNV
Germline

Chr1:156876496

Pathogenic

Hereditary insensitivity to pain with anhidrosis

No Assertion Criteria Provided

CA256262

rs_121964866

1 SubmittersRCV000013096

NM_002529.4(NTRK1):c.2339G>C (p.Arg780Pro)

SNV
Germline

Chr1:156881590

Pathogenic

Hereditary insensitivity to pain with anhidrosis

No Assertion Criteria Provided

CA256268

rs_35669708

1 SubmittersRCV000013097

NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)

SNV
Germline

Chr1:156880036

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA256288

rs_121964868

3 SubmittersRCV000013103

NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys)

SNV
Germline

Chr1:156873858

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA256294

rs_121964869

2 SubmittersRCV000013104 RCV000789504

NM_002529.4(NTRK1):c.1759A>G (p.Met587Val)

SNV
Germline

Chr1:156876526

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA256300

rs_121964870

2 SubmittersRCV000013105

NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)

SNV
Germline

Chr1:156879336

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA341877

rs_80356677

5 SubmittersRCV000020470

NM_002529.4(NTRK1):c.851-33T>A

SNV
Germline

Chr1:156873600

Pathogenic

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204920

rs_80356674

8 SubmittersRCV000020471 RCV000190819 RCV002468974

NM_002529.4(NTRK1):c.717+4A>T

SNV
Germline

Chr1:156868651

Pathogenic

Hereditary insensitivity to pain with anhidrosis

No Assertion Criteria Provided

CA272997

rs_606231466

1 SubmittersRCV000148945

NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)

SNV
Germline

Chr1:156876128

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA272998

rs_606231467

2 SubmittersRCV000148946

NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln)

SNV
Germline

Chr1:156879262

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA235758

rs_786205449

2 SubmittersRCV000171160 RCV001235402

NM_002529.4(NTRK1):c.360-2A>C

SNV
Germline

Chr1:156866908

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA276147

rs_797045059

3 SubmittersRCV000191113

NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro)

SNV
Germline

Chr1:156873822

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA276148

rs_797045060

1 SubmittersRCV000191114

NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)

SNV
Germline

Chr1:156860950

Conflicting classifications of pathogenicity

not specified
Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1168813

rs_201472270

13 SubmittersRCV000220958 RCV000299635 RCV000755590 RCV002408936 RCV003947731

NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr1:156876428

Conflicting classifications of pathogenicity

Condition: not provided
Familial medullary thyroid carcinoma
Inborn genetic diseases
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA1169434

rs_764417252

5 SubmittersRCV000221544 RCV000708820 RCV002399797 RCV001276831

NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)

SNV
Germline

Chr1:156881590

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary insensitivity to pain with anhidrosis
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169637

rs_35669708

12 SubmittersRCV000224279 RCV000236228 RCV000545651 RCV003929930

NM_002529.4(NTRK1):c.470G>A (p.Arg157His)

SNV
Germline

Chr1:156868145

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168991

rs_141021604

5 SubmittersRCV000235585 RCV000509462 RCV002338770

NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr1:156868201

Pathogenic

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584138

rs_879253889

5 SubmittersRCV000236167 RCV000985097

NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)

SNV
Germline

Chr1:156873647

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
not specified
Hereditary cancer
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169134

rs_137979116

10 SubmittersRCV000236758 RCV000284934 RCV001658074 RCV003492017 RCV002374386 RCV003919995

NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)

SNV
Germline

Chr1:156873722

Conflicting classifications of pathogenicity

Condition: not provided
Familial medullary thyroid carcinoma
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA1169147

rs_137994522

4 SubmittersRCV000237064 RCV000708814 RCV001079270

NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter)

SNV
Germline

Chr1:156875609

Pathogenic

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584140

rs_879253890

2 SubmittersRCV000235671 RCV003987474

NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)

SNV
Germline

Chr1:156860944

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA10606463

rs_556840308

4 SubmittersRCV000346219 RCV001085520 RCV002429232 RCV003967790

NM_002529.4(NTRK1):c.157G>C (p.Asp53His)

SNV
Germline

Chr1:156861091

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1168828

rs_200815412

7 SubmittersRCV000356782 RCV001532556 RCV002402008 RCV003957531

NM_002529.4(NTRK1):c.212+10C>T

SNV
Germline

Chr1:156861156

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1168839

rs_183517027

6 SubmittersRCV000259624 RCV000440141 RCV001706433

NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)

SNV
Germline

Chr1:156879124

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Familial medullary thyroid carcinoma
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169498

rs_188270548

10 SubmittersRCV000366642 RCV000591215 RCV000708821 RCV002411184

NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)

SNV
Germline

Chr1:156879311

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169526

rs_553270591

4 SubmittersRCV000321020 RCV002418143

NM_002529.4(NTRK1):c.375C>T (p.Asn125=)

SNV
Germline

Chr1:156866925

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168942

rs_757803799

4 SubmittersRCV000274129 RCV002365331

NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)

SNV
Germline

Chr1:156868184

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169004

rs_201503610

6 SubmittersRCV000383811 RCV000596082 RCV002338871

NM_002529.4(NTRK1):c.585G>A (p.Thr195=)

SNV
Germline

Chr1:156868515

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169051

rs_182531655

7 SubmittersRCV000325504 RCV001576585 RCV002356403 RCV003967821

NM_002529.4(NTRK1):c.631G>A (p.Val211Met)

SNV
Germline

Chr1:156868561

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169060

rs_201192875

5 SubmittersRCV000382485 RCV001509069 RCV002365332

NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)

SNV
Germline

Chr1:156868571

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169063

rs_200132482

6 SubmittersRCV000285911 RCV000489659 RCV002365333

NM_002529.4(NTRK1):c.1252-15C>G

SNV
Germline

Chr1:156874891

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
not specified

Criteria Provided
Conflicting Classifications

CA1169262

rs_186649954

4 SubmittersRCV000297900 RCV000444270

NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)

SNV
Germline

Chr1:156868245

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169019

rs_138608619

7 SubmittersRCV000291812 RCV000708810 RCV001509068 RCV002348032 RCV003897665

NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)

SNV
Germline

Chr1:156868588

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA1169065

rs_202030811

2 SubmittersRCV000343152

NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)

SNV
Germline

Chr1:156881606

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169639

rs_772156529

3 SubmittersRCV000351346 RCV002446538

NM_002529.4(NTRK1):c.*6C>T

SNV
Germline

Chr1:156881648

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169650

rs_370807813

3 SubmittersRCV000400460 RCV000598277

NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)

SNV
Germline

Chr1:156876100

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
not specified
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169373

rs_200575096

5 SubmittersRCV000391150 RCV000608164 RCV002392824 RCV003957532

NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)

SNV
Germline

Chr1:156880121

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169582

rs_140852621

5 SubmittersRCV000338627 RCV000426510 RCV002429243 RCV003884447

NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)

SNV
Germline

Chr1:156879224

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA1169513

rs_17838192

8 SubmittersRCV000524698 RCV001080490

NM_002529.4(NTRK1):c.630C>T (p.Asp210=)

SNV
Germline

Chr1:156868560

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169059

rs_147882947

6 SubmittersRCV000551084 RCV001703479 RCV002365473 RCV003922714

NM_002529.4(NTRK1):c.482G>A (p.Arg161His)

SNV
Germline

Chr1:156868157

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA1168994

rs_150271893

6 SubmittersRCV000431011 RCV000547738 RCV003492037

NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)

SNV
Germline

Chr1:156873850

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169178

rs_145823996

8 SubmittersRCV000432784 RCV000631344 RCV001086612 RCV002411348 RCV003970169

NM_002529.4(NTRK1):c.632T>A (p.Val211Glu)

SNV
Germline

Chr1:156868562

Likely pathogenic

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA16617006

rs_1064793219

2 SubmittersRCV000484442 RCV001828497

NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)

SNV
Germline

Chr1:156875639

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

CA1169334

rs_144901788

8 SubmittersRCV000486476 RCV000631332 RCV000789503 RCV003317235

NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)

SNV
Germline

Chr1:156874392

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169221

rs_199646180

3 SubmittersRCV000555707 RCV000708816 RCV003409766

NM_002529.4(NTRK1):c.311G>A (p.Arg104His)

SNV
Germline

Chr1:156864751

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168910

rs_578095133

6 SubmittersRCV000538023 RCV001726213 RCV002323917

NM_002529.4(NTRK1):c.295G>A (p.Val99Met)

SNV
Germline

Chr1:156864735

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168904

rs_201509045

3 SubmittersRCV000559579 RCV001532557 RCV002438295

NM_002529.4(NTRK1):c.2046+1G>T

SNV
Germline

Chr1:156879363

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

CA342940136

rs_1452844753

1 SubmittersRCV000539540

NM_002529.4(NTRK1):c.279G>A (p.Leu93=)

SNV
Germline

Chr1:156864420

Conflicting classifications of pathogenicity

not specified
Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1168874

rs_147983523

5 SubmittersRCV000601111 RCV000631348 RCV001310876 RCV002438596

NM_002529.4(NTRK1):c.711G>A (p.Thr237=)

SNV
Germline

Chr1:156868641

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169069

rs_537430475

4 SubmittersRCV000631351 RCV001698032 RCV002368096

NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg)

SNV
Germline

Chr1:156868246

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA31108387

rs_1026300967

3 SubmittersRCV000622925 RCV002248821 RCV002531896

NM_002529.4(NTRK1):c.2206-11G>A

SNV
Germline

Chr1:156881446

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA658795536

rs_1553263326

2 SubmittersRCV000624785 RCV002531895

NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)

SNV
Germline

Chr1:156868568

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA1169061

rs_747711259

6 SubmittersRCV000631337 RCV000790288 RCV002360506

NM_002529.4(NTRK1):c.1741G>A (p.Glu581Lys)

SNV
Germline

Chr1:156876508

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169456

rs_150579345

4 SubmittersRCV000631329 RCV001796146 RCV002404736

NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)

SNV
Germline

Chr1:156876545

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169464

rs_748133401

3 SubmittersRCV000631318 RCV002404734

NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)

SNV
Germline

Chr1:156868505

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169049

rs_201185829

5 SubmittersRCV000631349 RCV002343202 RCV003326479

NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp)

SNV
Germline

Chr1:156868570

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169062

rs_372041586

6 SubmittersRCV000631334 RCV002360505 RCV004791642

NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)

SNV
Germline

Chr1:156876563

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169469

rs_775718859

3 SubmittersRCV000631322 RCV002404735

NM_002529.4(NTRK1):c.1522C>T (p.Arg508Trp)

SNV
Germline

Chr1:156876100

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169372

rs_200575096

2 SubmittersRCV000631338 RCV002388005

NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys)

SNV
Germline

Chr1:156880071

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Premature ovarian failure
not specified

Criteria Provided
Conflicting Classifications

CA1169571

rs_747855434

5 SubmittersRCV000631320 RCV001270189 RCV004525991

NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)

SNV
Germline

Chr1:156881532

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_759637817

5 SubmittersRCV000674105 RCV002442399

NM_002529.4(NTRK1):c.1196-1G>A

SNV
Germline

Chr1:156874570

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764171953

3 SubmittersRCV000668622

NM_002529.4(NTRK1):c.424G>T (p.Glu142Ter)

SNV
Germline

Chr1:156866974

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_370483210

1 SubmittersRCV000691155

NM_002529.4(NTRK1):c.1301C>T (p.Thr434Met)

SNV
Germline

Chr1:156874955

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771342578

3 SubmittersRCV000689778 RCV002386184

NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)

SNV
Germline

Chr1:156880095

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_759190964

2 SubmittersRCV000691409

NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)

SNV
Germline

Chr1:156879255

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142870382

4 SubmittersRCV000685871 RCV002406534 RCV003884703

NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)

SNV
Germline

Chr1:156864394

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_543320028

7 SubmittersRCV000789505 RCV000986439 RCV001585661 RCV002424729

NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)

SNV
Germline

Chr1:156868514

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_552776147

4 SubmittersRCV000796733 RCV002352226

NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro)

SNV
Germline

Chr1:156873819

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_150651692

2 SubmittersRCV000712452 RCV002534507

NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr1:156876571

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_763758904

7 SubmittersRCV000760429 RCV000789608 RCV001222355

NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys)

SNV
Germline

Chr1:156879276

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764992664

6 SubmittersRCV000789609 RCV001381359

NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr1:156881554

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_756981419

3 SubmittersRCV000789685 RCV000820283

NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter)

SNV
Germline

Chr1:156881559

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_764816792

2 SubmittersRCV000789507 RCV002535803

NM_002529.4(NTRK1):c.429-1G>C

SNV
Germline

Chr1:156868103

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_748672380

3 SubmittersRCV000789673 RCV001329488 RCV004798874

NM_002529.4(NTRK1):c.574+1G>A

SNV
Germline

Chr1:156868250

Pathogenic

Charcot-Marie-Tooth disease
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1232901259

4 SubmittersRCV000789502 RCV001218483

NM_002529.4(NTRK1):c.396G>A (p.Trp132Ter)

SNV
Germline

Chr1:156866946

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_747976486

1 SubmittersRCV000813929

NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr1:156868213

Pathogenic

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571689751

3 SubmittersRCV000816391 RCV002345871

NM_002529.4(NTRK1):c.602C>A (p.Pro201His)

SNV
Germline

Chr1:156868532

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_146201511

4 SubmittersRCV000810037 RCV002352400

NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)

SNV
Germline

Chr1:156871713

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145222195

3 SubmittersRCV000823933 RCV002307632

NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)

SNV
Germline

Chr1:156874612

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199826686

3 SubmittersRCV000795187 RCV002360920

NM_002529.4(NTRK1):c.219C>T (p.Ile73=)

SNV
Germline

Chr1:156864360

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_563296138

4 SubmittersRCV000876073 RCV002539999

NM_002529.4(NTRK1):c.357C>T (p.Arg119=)

SNV
Germline

Chr1:156864797

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_149960336

3 SubmittersRCV000876787

NM_002529.4(NTRK1):c.1803C>G (p.Leu601=)

SNV
Germline

Chr1:156876570

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146129485

3 SubmittersRCV000874023 RCV001580553

NM_002529.4(NTRK1):c.2047-8C>T

SNV
Germline

Chr1:156879991

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_769308621

2 SubmittersRCV000877061

NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)

SNV
Germline

Chr1:156880065

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200935209

3 SubmittersRCV000945399 RCV002416216

NM_002529.4(NTRK1):c.1189C>A (p.Pro397Thr)

SNV
Germline

Chr1:156874394

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767630555

2 SubmittersRCV001439919 RCV002542088

NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)

SNV
Germline

Chr1:156880122

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_763122825

3 SubmittersRCV001030785

NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)

SNV
Germline

Chr1:156861037

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1204319733

3 SubmittersRCV001050651 RCV003283904

NM_002529.4(NTRK1):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr1:156868153

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1647277529

1 SubmittersRCV001059110

NM_002529.4(NTRK1):c.867G>C (p.Gln289His)

SNV
Germline

Chr1:156873649

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1647699293

2 SubmittersRCV001041765 RCV002445233

NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp)

SNV
Germline

Chr1:156879261

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
NTRK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_369353892

4 SubmittersRCV001035125 RCV003411959

NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)

SNV
Germline

Chr1:156881482

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

rs_751281792

4 SubmittersRCV001048568 RCV001310878 RCV003953444

NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)

SNV
Germline

Chr1:156881563

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_780724170

2 SubmittersRCV001064041

NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)

SNV
Germline

Chr1:156864766

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_141592864

2 SubmittersRCV001101575

NM_002529.4(NTRK1):c.468G>C (p.Leu156=)

SNV
Germline

Chr1:156868143

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_991397214

2 SubmittersRCV001096153

NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)

SNV
Germline

Chr1:156873787

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780334454

3 SubmittersRCV001099693 RCV003326538

NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)

SNV
Germline

Chr1:156876413

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_763247367

2 SubmittersRCV001101683

NM_002529.4(NTRK1):c.1917G>A (p.Val639=)

SNV
Germline

Chr1:156879233

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_760171782

2 SubmittersRCV001098002

NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)

SNV
Germline

Chr1:156881465

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_1648253157

2 SubmittersRCV001099783

NM_002529.4(NTRK1):c.213-5C>G

SNV
Germline

Chr1:156864349

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_757323460

2 SubmittersRCV001099603

NM_002529.4(NTRK1):c.288-5C>T

SNV
Germline

Chr1:156864723

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200860423

4 SubmittersRCV001101574 RCV002436704

NM_002529.4(NTRK1):c.575-15G>A

SNV
Germline

Chr1:156868490

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_762788551

2 SubmittersRCV001096154

NM_002529.4(NTRK1):c.850+11G>A

SNV
Germline

Chr1:156871766

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_372293237

2 SubmittersRCV001099692

NM_002529.4(NTRK1):c.1196-11T>C

SNV
Germline

Chr1:156874560

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_1024148691

2 SubmittersRCV001099694

NM_002529.4(NTRK1):c.1252-6C>G

SNV
Germline

Chr1:156874900

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776728101

4 SubmittersRCV001101681 RCV003363109

NM_002529.4(NTRK1):c.2205+13C>A

SNV
Germline

Chr1:156880170

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

rs_1648175536

2 SubmittersRCV001099782

NM_002529.4(NTRK1):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr1:156860935

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1655612629

1 SubmittersRCV001197778

NM_002529.4(NTRK1):c.1287C>A (p.Cys429Ter)

SNV
Germline

Chr1:156874941

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1647805941

2 SubmittersRCV001205093

NM_002529.4(NTRK1):c.1354+1G>T

SNV
Germline

Chr1:156875009

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764771898

3 SubmittersRCV001212380

NM_002529.4(NTRK1):c.718-1G>A

SNV
Germline

Chr1:156871622

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1474214658

1 SubmittersRCV001220349

NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)

SNV
Germline

Chr1:156868606

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760918699

3 SubmittersRCV001248539 RCV004960657

NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)

SNV
Germline

Chr1:156871723

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200305545

4 SubmittersRCV001243110 RCV004793346

NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)

SNV
Germline

Chr1:156874974

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147443162

4 SubmittersRCV001241331 RCV001569507 RCV002379925

NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)

SNV
Germline

Chr1:156881589

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_537948663

3 SubmittersRCV001246469 RCV002451602

NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)

SNV
Germline

Chr1:156876535

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma

No Assertion Criteria Provided

rs_1647927494

1 SubmittersRCV001257443

NM_002529.4(NTRK1):c.1501+1G>A

SNV
Germline

Chr1:156875667

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1647858636

3 SubmittersRCV001378124 RCV001587384

NM_002529.4(NTRK1):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr1:156864370

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102885187

1 SubmittersRCV001384843

NM_002529.4(NTRK1):c.575-19G>A

SNV
Germline

Chr1:156868486

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_370828525

4 SubmittersRCV001386283 RCV002280181

NM_002529.4(NTRK1):c.2133G>A (p.Trp711Ter)

SNV
Germline

Chr1:156880085

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1393272944

1 SubmittersRCV001389855

NM_002529.4(NTRK1):c.563A>G (p.Asn188Ser)

SNV
Germline

Chr1:156868238

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_531080009

2 SubmittersRCV001487519 RCV002562715

NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter)

SNV
Germline

Chr1:156880121

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_140852621

1 SubmittersRCV001580750

NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln)

SNV
Germline

Chr1:156876572

Pathogenic

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1647932465

5 SubmittersRCV001700866 RCV002538629

NM_002529.4(NTRK1):c.429-1G>A

SNV
Germline

Chr1:156868103

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_748672380

3 SubmittersRCV001756426 RCV002539867

NM_002529.4(NTRK1):c.1354+1G>A

SNV
Germline

Chr1:156875009

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_764771898

3 SubmittersRCV001784762

NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys)

SNV
Germline

Chr1:156880026

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
not specified

Criteria Provided
Conflicting Classifications

rs_761967383

3 SubmittersRCV001958041 RCV004699572

NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)

SNV
Germline

Chr1:156881562

Pathogenic/Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1324983370

2 SubmittersRCV001912697 RCV004041645

NM_002529.4(NTRK1):c.2078G>A (p.Trp693Ter)

SNV
Germline

Chr1:156880030

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1648162011

1 SubmittersRCV001950603

NM_002529.4(NTRK1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:156860937

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102878843

1 SubmittersRCV001985821

NM_002529.4(NTRK1):c.851-2A>C

SNV
Germline

Chr1:156873631

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102904669

1 SubmittersRCV002008582

NM_002529.4(NTRK1):c.850+1G>C

SNV
Germline

Chr1:156871756

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1647569895

1 SubmittersRCV001916588

NM_002529.4(NTRK1):c.1961G>A (p.Arg654His)

SNV
Germline

Chr1:156879277

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_750168062

1 SubmittersRCV002041093

NM_002529.4(NTRK1):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr1:156868525

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102894271

1 SubmittersRCV001909791

NM_002529.4(NTRK1):c.1438G>T (p.Glu480Ter)

SNV
Germline

Chr1:156875603

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_139731614

1 SubmittersRCV001993387

NM_002529.4(NTRK1):c.1501+2T>G

SNV
Germline

Chr1:156875668

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102915741

1 SubmittersRCV001989005

NM_002529.4(NTRK1):c.850+1G>A

SNV
Germline

Chr1:156871756

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1647569895

1 SubmittersRCV001956056

NM_002529.4(NTRK1):c.1981G>T (p.Gly661Ter)

SNV
Germline

Chr1:156879297

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1310506980

1 SubmittersRCV001944254

NM_002529.4(NTRK1):c.1633-1G>A

SNV
Germline

Chr1:156876399

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_1571699664

1 SubmittersRCV001983045

NM_002529.4(NTRK1):c.359+1G>C

SNV
Germline

Chr1:156864800

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

rs_2102886311

1 SubmittersRCV002011006

NM_002529.4(NTRK1):c.2282G>A (p.Arg761Gln)

SNV
Germline

Chr1:156881533

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201891311

2 SubmittersRCV002104476 RCV002261453

NM_002529.4(NTRK1):c.360-5C>T

SNV
Germline

Chr1:156866905

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377069358

2 SubmittersRCV002108344 RCV003992615

NM_002529.4(NTRK1):c.1077C>G (p.Tyr359Ter)

SNV
Germline

Chr1:156873859

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002289279

NM_002529.4(NTRK1):c.424G>A (p.Glu142Lys)

SNV
Germline

Chr1:156866974

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002329846 RCV003094607

NM_002529.4(NTRK1):c.617A>T (p.Asp206Val)

SNV
Germline

Chr1:156868547

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002353752 RCV003098158

NM_002529.4(NTRK1):c.2104C>T (p.Arg702Cys)

SNV
Germline

Chr1:156880056

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002423954 RCV003098605

NM_002529.4(NTRK1):c.1876C>T (p.Gln626Ter)

SNV
Germline

Chr1:156879192

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003077436

NM_002529.4(NTRK1):c.2075G>A (p.Arg692His)

SNV
Germline

Chr1:156880027

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003085895

NM_002529.4(NTRK1):c.1456C>A (p.Leu486Ile)

SNV
Germline

Chr1:156875621

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002591919 RCV002591920

NM_002529.4(NTRK1):c.1843G>T (p.Glu615Ter)

SNV
Germline

Chr1:156879159

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002664188

NM_002529.4(NTRK1):c.574+1G>T

SNV
Germline

Chr1:156868250

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002574813

NM_002529.4(NTRK1):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr1:156864367

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002618849

NM_002529.4(NTRK1):c.1961G>C (p.Arg654Pro)

SNV
Germline

Chr1:156879277

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002716418

NM_002529.4(NTRK1):c.2233G>T (p.Glu745Ter)

SNV
Germline

Chr1:156881484

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002755377

NM_002529.4(NTRK1):c.1251+1G>A

SNV
Germline

Chr1:156874627

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002770736

NM_002529.4(NTRK1):c.1251+1G>T

SNV
Germline

Chr1:156874627

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002863761

NM_002529.4(NTRK1):c.446C>A (p.Pro149His)

SNV
Germline

Chr1:156868121

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002903438 RCV003250608

NM_002529.4(NTRK1):c.1729G>A (p.Gly577Ser)

SNV
Germline

Chr1:156876496

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002886362

NM_002529.4(NTRK1):c.1741G>T (p.Glu581Ter)

SNV
Germline

Chr1:156876508

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002923641

NM_002529.4(NTRK1):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr1:156873704

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002962120

NM_002529.4(NTRK1):c.274G>T (p.Glu92Ter)

SNV
Germline

Chr1:156864415

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003025988

NM_002529.4(NTRK1):c.2140G>A (p.Gly714Ser)

SNV
Germline

Chr1:156880092

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003236469

NM_002529.4(NTRK1):c.574+2T>C

SNV
Germline

Chr1:156868251

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003340887

NM_002529.4(NTRK1):c.213-1G>A

SNV
Germline

Chr1:156864353

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003512411

NM_002529.4(NTRK1):c.360-2A>G

SNV
Germline

Chr1:156866908

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003513337

NM_002529.4(NTRK1):c.1773T>G (p.Tyr591Ter)

SNV
Germline

Chr1:156876540

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003512571

NM_002529.4(NTRK1):c.1354+1G>C

SNV
Germline

Chr1:156875009

Pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003512697

NM_002529.4(NTRK1):c.212+2T>C

SNV
Germline

Chr1:156861148

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003623941

NM_002529.4(NTRK1):c.2047-1G>A

SNV
Germline

Chr1:156879998

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003624368

NM_002529.4(NTRK1):c.212+2T>G

SNV
Germline

Chr1:156861148

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV003832357

NM_002529.4(NTRK1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:156860936

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004515796

NM_002529.4(NTRK1):c.850+5G>A

SNV
Germline

Chr1:156871760

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

No Assertion Criteria Provided

1 SubmittersRCV004006234

NM_002529.4(NTRK1):c.2099T>C (p.Leu700Pro)

SNV
Germline

Chr1:156880051

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004527536

NM_002529.4(NTRK1):c.2143G>C (p.Val715Leu)

SNV
Germline

Chr1:156880095

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004586251