Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg)	SNV Germline	Chr13:48261222	Pathogenic	ABri amyloidosis	No Assertion Criteria Provided	CA117883	rs_104894417	1 SubmittersRCV000006345
NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)	SNV Germline	Chr5:38925231	Pathogenic	Amyloidosis, primary localized cutaneous, 1	No Assertion Criteria Provided	CA119093	rs_63750567	1 SubmittersRCV000008251
NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)	SNV Germline	Chr5:38923237	Pathogenic	Amyloidosis, primary localized cutaneous, 1	No Assertion Criteria Provided	CA119094	rs_63750560	1 SubmittersRCV000008252
NM_000371.4(TTR):c.148G>A (p.Val50Met)	SNV Germline	Chr18:31592974	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Carpal tunnel syndrome 1 Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic TTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256790	rs_28933979	37 SubmittersRCV000014359 RCV000159423 RCV000770555 RCV001173292 RCV002390106 RCV002476964 RCV004549361
NM_000371.4(TTR):c.157T>A (p.Phe53Ile)	SNV Germline	Chr18:31592983	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256792	rs_121918068	1 SubmittersRCV000014360
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)	SNV Germline	Chr18:31598632	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256794	rs_121918075	4 SubmittersRCV000014361 RCV001582481 RCV002354160
NM_000371.4(TTR):c.233T>A (p.Leu78His)	SNV Germline	Chr18:31595152	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256796	rs_121918069	9 SubmittersRCV000014362 RCV002444430 RCV000159437
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	SNV Germline	Chr18:31595157	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256798	rs_121918070	15 SubmittersRCV000014363 RCV000159427 RCV000852477 RCV001173293 RCV002453258
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	SNV Germline	Chr18:31595209	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 not specified Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic Carpal tunnel syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256800	rs_121918071	9 SubmittersRCV000014364 RCV001000742 RCV002433454 RCV000519257 RCV001173289 RCV002504783
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	SNV Germline	Chr18:31595230	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256802	rs_121918072	4 SubmittersRCV000014365 RCV002321479 RCV001810859
NM_000371.4(TTR):c.391C>A (p.Leu131Met)	SNV Germline	Chr18:31598622	Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Single Submitter	CA256804	rs_121918073	2 SubmittersRCV000014366 RCV003162251
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	SNV Germline	Chr18:31598655	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype Bone marrow hypocellularity Anemia Pancytopenia ATTRV122I amyloidosis Charcot-Marie-Tooth disease Carpal tunnel syndrome 1 Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic TTR-related disorder Tip-toe gait Amyloidosis	Criteria Provided Multiple Submitters No Conflicts	CA214382	rs_76992529	45 SubmittersRCV000014368 RCV000078674 RCV000211747 RCV000243161 RCV000735409 RCV000853387 RCV001173290 RCV002476965 RCV003335038 RCV003319166 RCV004798727
NM_000371.4(TTR):c.328C>A (p.His110Asn)	SNV Germline	Chr18:31595247	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Cardiovascular phenotype Cardiomyopathy Condition: not provided Heart failure Charcot-Marie-Tooth disease Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications	CA179461	rs_121918074	19 SubmittersRCV000014369 RCV000152541 RCV000621211 RCV000770556 RCV000857889 RCV000852746 RCV001173306 RCV001256816
NM_000371.4(TTR):c.185A>G (p.Glu62Gly)	SNV Germline	Chr18:31593011	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256806	rs_11541796	1 SubmittersRCV000014370
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)	SNV Germline	Chr18:31595129	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256808	rs_121918076	5 SubmittersRCV000014371 RCV002415415 RCV003480030
NM_000371.4(TTR):c.149T>C (p.Val50Ala)	SNV Germline	Chr18:31592975	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts	CA256810	rs_79977247	3 SubmittersRCV000014372
NM_000371.4(TTR):c.166G>C (p.Ala56Pro)	SNV Germline	Chr18:31592992	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter	CA256812	rs_121918077	2 SubmittersRCV000014374
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	SNV Germline	Chr18:31598647	Conflicting classifications of pathogenicity	AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF not specified Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Cardiomyopathy Charcot-Marie-Tooth disease Hyperthyroxinemia, dystransthyretinemic	Criteria Provided Conflicting Classifications	CA123101	rs_28933981	14 SubmittersRCV000014376 RCV000036376 RCV000618448 RCV000714134 RCV000990084 RCV001170385 RCV001173303 RCV003993656
NM_000371.4(TTR):c.233T>G (p.Leu78Arg)	SNV Germline	Chr18:31595152	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256814	rs_121918069	1 SubmittersRCV000014377
NM_000371.4(TTR):c.199G>C (p.Gly67Arg)	SNV Germline	Chr18:31593025	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256816	rs_387906523	1 SubmittersRCV000014378
NM_000371.4(TTR):c.133G>A (p.Ala45Thr)	SNV Germline	Chr18:31592959	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256818	rs_104894664	1 SubmittersRCV000014379
NM_000371.4(TTR):c.224T>C (p.Leu75Pro)	SNV Germline	Chr18:31595143	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256821	rs_121918079	1 SubmittersRCV000014380
NM_000371.4(TTR):c.209G>T (p.Ser70Ile)	SNV Germline	Chr18:31595128	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256823	rs_121918080	1 SubmittersRCV000014381
NM_000371.4(TTR):c.148G>C (p.Val50Leu)	SNV Germline	Chr18:31592974	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA256825	rs_28933979	4 SubmittersRCV000014382 RCV002390107 RCV001173291
NM_000371.4(TTR):c.205A>G (p.Thr69Ala)	SNV Germline	Chr18:31595124	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256827	rs_121918081	1 SubmittersRCV000014383
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	SNV Germline	Chr18:31595244	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256829	rs_121918082	8 SubmittersRCV000014384 RCV000236028 RCV002321480
NM_000371.4(TTR):c.270A>C (p.Lys90Asn)	SNV Germline	Chr18:31595189	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256831	rs_267607160	1 SubmittersRCV000014385
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	SNV Germline	Chr18:31592914	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA256833	rs_121918083	7 SubmittersRCV000014386 RCV000993524 RCV003298033
NM_000371.4(TTR):c.272T>C (p.Val91Ala)	SNV Germline	Chr18:31595191	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256835	rs_121918084	2 SubmittersRCV000014387
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	SNV Germline	Chr18:31595181	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Carpal tunnel syndrome 1 Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256837	rs_121918085	12 SubmittersRCV000014388 RCV001288934 RCV002476966 RCV002426503
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)	SNV Germline	Chr18:31595160	Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Single Submitter	CA256839	rs_121918086	2 SubmittersRCV000014389 RCV002453259
NM_000371.4(TTR):c.350C>G (p.Ala117Gly)	SNV Unknown	Chr18:31598581	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256841	rs_121918087	1 SubmittersRCV000014390
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	SNV Germline	Chr18:31598610	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 not specified Condition: not provided Cardiovascular phenotype Carpal tunnel syndrome 1 Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic Hereditary amyloidosis	Criteria Provided Multiple Submitters No Conflicts	CA256843	rs_121918089	13 SubmittersRCV000014392 RCV000506089 RCV001090344 RCV002354161 RCV002504784 RCV003458163
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)	SNV Germline	Chr18:31593026	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256845	rs_121918090	4 SubmittersRCV000014393 RCV000516227 RCV002415416
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	SNV Germline	Chr18:31595169	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Amyloidosis, hereditary systemic 1 Carpal tunnel syndrome Hyperthyroxinemia, dystransthyretinemic Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256847	rs_121918091	10 SubmittersRCV000014395 RCV000236623 RCV000763027 RCV002433455
NM_000371.4(TTR):c.118G>A (p.Val40Ile)	SNV Germline	Chr18:31592944	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256849	rs_121918093	7 SubmittersRCV000014397 RCV000159420 RCV002336083
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	SNV Germline	Chr18:31592983	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256851	rs_121918068	6 SubmittersRCV000014398 RCV001810860 RCV002390108
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)	SNV Germline	Chr18:31592921	Pathogenic	Amyloidosis, hereditary systemic 1 not specified	Criteria Provided Multiple Submitters No Conflicts	CA256853	rs_121918094	3 SubmittersRCV000014399 RCV001001339
NM_000371.4(TTR):c.371G>A (p.Arg124His)	SNV Germline	Chr18:31598602	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA179467	rs_121918095	13 SubmittersRCV000014400 RCV000152543 RCV001170383 RCV000586735 RCV000621591 RCV001173296
NM_000371.4(TTR):c.199G>A (p.Gly67Arg)	SNV Germline	Chr18:31593025	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA256855	rs_387906523	1 SubmittersRCV000014401
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)	SNV Germline	Chr18:31593017	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA123116	rs_104894665	3 SubmittersRCV000014403 RCV002408461
NM_000371.4(TTR):c.218G>A (p.Gly73Glu)	SNV Germline	Chr18:31595137	Pathogenic	Amyloidosis, hereditary systemic 1	No Assertion Criteria Provided	CA123112	rs_121918097	1 SubmittersRCV004555832
NM_000371.4(TTR):c.113A>G (p.Asp38Gly)	SNV Germline	Chr18:31592939	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts	CA123114	rs_121918098	3 SubmittersRCV000036373
NM_000371.4(TTR):c.149T>G (p.Val50Gly)	SNV Germline	Chr18:31592975	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter	CA123118	rs_79977247	2 SubmittersRCV001857350
NM_000371.4(TTR):c.265T>C (p.Tyr89His)	SNV Germline	Chr18:31595184	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123120	rs_121918100	7 SubmittersRCV000586493 RCV002426504 RCV001811140
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	SNV Germline	Chr18:31598580	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic Carpal tunnel syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256859	rs_267607161	9 SubmittersRCV000014410 RCV002453260 RCV000223869 RCV002496359
NM_000239.3(LYZ):c.221T>C (p.Ile74Thr)	SNV Germline	Chr12:69350192	Pathogenic	Amyloidosis, hereditary systemic 5	No Assertion Criteria Provided	CA123901	rs_121913547	1 SubmittersRCV004555833
NM_000239.3(LYZ):c.199G>C (p.Asp67His)	SNV Germline	Chr12:69350170	Pathogenic	Amyloidosis, hereditary systemic 5	No Assertion Criteria Provided	CA123903	rs_387906535	1 SubmittersRCV004555834
NM_000239.3(LYZ):c.244T>C (p.Trp82Arg)	SNV Germline	Chr12:69350215	Pathogenic	Familial visceral amyloidosis, Ostertag type Condition: not provided	Criteria Provided Single Submitter	CA123906	rs_387906536	2 SubmittersRCV000015452 RCV001509432
NM_000239.3(LYZ):c.223T>A (p.Phe75Ile)	SNV Germline	Chr12:69350194	Pathogenic	Amyloidosis, hereditary systemic 5	No Assertion Criteria Provided	CA123909	rs_121913549	1 SubmittersRCV004555835
NM_000239.3(LYZ):c.244T>A (p.Trp82Arg)	SNV Germline	Chr12:69350215	Pathogenic	Familial visceral amyloidosis, Ostertag type Condition: not provided	Criteria Provided Single Submitter	CA123912	rs_387906536	2 SubmittersRCV000015454 RCV003556025
NM_021871.4(FGA):c.104G>A (p.Arg35His)	SNV Germline	Chr4:154589513	Pathogenic	Dysfibrinogenemia Hypofibrinogenemia Familial dysfibrinogenemia FGA-related disorder Abnormal bleeding Familial dysfibrinogenemia Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130224	rs_121909607	9 SubmittersRCV000030941 RCV000851581 RCV002228034 RCV004532379 RCV000851971 RCV002476987 RCV001509236
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	SNV Germline	Chr4:154585711	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Condition: not provided FGA-related disorder	Criteria Provided Conflicting Classifications	CA126489	rs_78506343	3 SubmittersRCV000017869 RCV001753419 RCV004528118
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	SNV Germline	Chr4:154585795	Pathogenic	Familial dysfibrinogenemia Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type Familial visceral amyloidosis, Ostertag type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126494	rs_121909612	4 SubmittersRCV002490381 RCV000017871 RCV003480033
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)	SNV Germline	Chr4:154585712	Likely pathogenic	FIBRINOGEN DUSART Deep venous thrombosis Familial dysfibrinogenemia Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Multiple Submitters No Conflicts	CA126498	rs_121909613	3 SubmittersRCV000017872 RCV002222001 RCV002490382
NM_021871.4(FGA):c.510+1G>T	SNV Germline	Chr4:154587511	Pathogenic	Congenital afibrinogenemia Familial hypodysfibrinogenemia Condition: not provided Hypofibrinogenemia Familial dysfibrinogenemia Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type Familial dysfibrinogenemia	Criteria Provided Multiple Submitters No Conflicts	CA126508	rs_146387238	7 SubmittersRCV000017877 RCV000030942 RCV002513088 RCV000851811 RCV002496394 RCV004700245
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)	SNV Germline	Chr4:154586438	Conflicting classifications of pathogenicity	Venous thromboembolism, susceptibility to not specified Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type Condition: not provided	Criteria Provided Conflicting Classifications	CA126515	rs_6050	7 SubmittersRCV000017882 RCV000246757 RCV000338448 RCV000405212 RCV001509235
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)	SNV Germline	Chr11:116837053	Pathogenic	Hypoalphalipoproteinemia, primary, 2, intermediate Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 2 Condition: not provided Familial amyloid polyneuropathy, Iowa type	Criteria Provided Multiple Submitters No Conflicts	CA127561	rs_28931574	3 SubmittersRCV002504810 RCV003556050 RCV000019506
NM_000484.4(APP):c.2077G>C (p.Glu693Gln)	SNV Germline	Chr21:25891856	Pathogenic	ABeta amyloidosis, dutch type Alzheimer disease Cerebral amyloid angiopathy, APP-related	Criteria Provided Multiple Submitters No Conflicts	CA127790	rs_63750579	3 SubmittersRCV000019713 RCV001386879 RCV002272024
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)	SNV Germline	Chr21:25891858	Pathogenic	ABetaA21G amyloidosis Condition: not provided Alzheimer disease type 1 Alzheimer disease	No Assertion Criteria Provided	CA127794	rs_63750671	3 SubmittersRCV000019717 RCV000084561 RCV000019718 RCV000020306
NM_000484.4(APP):c.2078A>G (p.Glu693Gly)	SNV Germline	Chr21:25891855	Pathogenic	ABeta amyloidosis, Arctic type Alzheimer disease type 1 Alzheimer disease Condition: not provided	No Assertion Criteria Provided	CA127801	rs_63751039	3 SubmittersRCV000019726 RCV000019725 RCV000020307 RCV000084563
NM_000484.4(APP):c.2077G>A (p.Glu693Lys)	SNV Germline	Chr21:25891856	Pathogenic	ABeta amyloidosis, Italian type Condition: not provided	No Assertion Criteria Provided	CA127802	rs_63750579	2 SubmittersRCV000019727 RCV000084562
NM_000484.4(APP):c.2080G>A (p.Asp694Asn)	SNV Germline	Chr21:25891853	Pathogenic	ABeta amyloidosis, Iowa type Condition: not provided Alzheimer disease	Criteria Provided Multiple Submitters No Conflicts	CA127804	rs_63749810	4 SubmittersRCV000019729 RCV000084564 RCV000687111
NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)	SNV Germline	Chr5:38924491	Pathogenic	Amyloidosis, primary localized cutaneous, 1	No Assertion Criteria Provided	CA129035	rs_387906821	1 SubmittersRCV000023143
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	SNV Germline	Chr5:38925240	Likely pathogenic	Amyloidosis, primary localized cutaneous, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129036	rs_387906822	3 SubmittersRCV000023144 RCV000439038
NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)	SNV Germline	Chr5:38925249	Pathogenic	Amyloidosis, primary localized cutaneous, 1	No Assertion Criteria Provided	CA129037	rs_387906823	1 SubmittersRCV000023145
NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe)	SNV Germline	Chr5:55910592	Pathogenic	Amyloidosis, primary localized cutaneous, 2	No Assertion Criteria Provided		rs_1561123748	1 SubmittersRCV000023775
NM_004048.4(B2M):c.286G>A (p.Asp96Asn)	SNV Germline	Chr15:44715641	Pathogenic	Familial visceral amyloidosis, Ostertag type Non-Hodgkin lymphoma	Criteria Provided Single Submitter	CA129891	rs_398122820	2 SubmittersRCV000024598 RCV000989305
NM_000371.4(TTR):c.208A>C (p.Ser70Arg)	SNV Germline	Chr18:31595127	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter	CA260564	rs_386134269	1 SubmittersRCV000030571
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)	SNV Germline	Chr18:31595129	Pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA260565	rs_121918076	4 SubmittersRCV000030572 RCV000517494 RCV002415438
NM_000371.4(TTR):c.336+19G>A	SNV Germline	Chr18:31595274	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 not specified Condition: not provided Charcot-Marie-Tooth disease Cardiovascular phenotype TTR-related disorder	Criteria Provided Conflicting Classifications	CA235185	rs_75517067	12 SubmittersRCV000030573 RCV000244982 RCV000723872 RCV001173305 RCV002321492 RCV004549394
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	SNV Germline	Chr11:47342683	Conflicting classifications of pathogenicity	not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 4 Condition: not provided Cardiomyopathy Amyloidosis, hereditary systemic 1 Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA010550	rs_35736435	16 SubmittersRCV000035409 RCV000148661 RCV000242061 RCV000490352 RCV000587761 RCV000776189 RCV000852652 RCV001081053
NM_000371.4(TTR):c.417G>A (p.Thr139=)	SNV Germline	Chr18:31598648	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Cardiomyopathy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA132602	rs_2276382	12 SubmittersRCV000036377 RCV000248562 RCV000587633 RCV001081376 RCV001170611 RCV001173304
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	SNV Germline	Chr18:31593016	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Condition: not provided Charcot-Marie-Tooth disease Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA182025	rs_138065384	10 SubmittersRCV000155021 RCV000474349 RCV000766993 RCV001173294 RCV001798511 RCV002408691
NM_000371.4(TTR):c.354C>T (p.Asn118=)	SNV Germline	Chr18:31598585	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Amyloidosis, hereditary systemic 1 TTR-related disorder Cardiomyopathy	Criteria Provided Conflicting Classifications	CA179464	rs_11541797	10 SubmittersRCV000152542 RCV000460535 RCV000242314 RCV001081876 RCV004739478 RCV000770557
NM_000371.4(TTR):c.14G>A (p.Arg5His)	SNV Germline	Chr18:31591916	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Amyloidosis, hereditary systemic 1 Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease TTR-related disorder	Criteria Provided Conflicting Classifications	CA297526	rs_138657343	19 SubmittersRCV000159430 RCV000246043 RCV000474573 RCV000996672 RCV000769524 RCV001173539 RCV004551363
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	SNV Germline	Chr18:31592956	Pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA297519	rs_11541790	7 SubmittersRCV000159421 RCV000560691 RCV002381523
NM_000371.4(TTR):c.194C>A (p.Ala65Asp)	SNV Germline	Chr18:31593020	Pathogenic/Likely pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts	CA297540	rs_730881169	3 SubmittersRCV000159436 RCV001228889
NM_000371.4(TTR):c.236C>A (p.Thr79Lys)	SNV Germline	Chr18:31595155	Pathogenic/Likely pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts	CA297521	rs_730881163	2 SubmittersRCV000159426 RCV003514316
NM_000371.4(TTR):c.280G>C (p.Asp94His)	SNV Germline	Chr18:31595199	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Condition: not provided Charcot-Marie-Tooth disease not specified Cardiovascular phenotype Amyloidosis, hereditary systemic 1 Carpal tunnel syndrome 1 Hyperthyroxinemia, dystransthyretinemic	Criteria Provided Conflicting Classifications	CA297523	rs_730881164	11 SubmittersRCV000647355 RCV000725937 RCV001173300 RCV001731489 RCV002433710 RCV002478482
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)	SNV Germline	Chr18:31595220	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Amyloidosis, hereditary systemic 1 Hyperthyroxinemia, dystransthyretinemic Carpal tunnel syndrome 1	Criteria Provided Conflicting Classifications	CA206402	rs_730881165	8 SubmittersRCV000193128 RCV000589902 RCV001064362 RCV002433711 RCV002484992
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)	SNV Germline	Chr18:31598586	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Condition: not provided Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297513	rs_76410435	6 SubmittersRCV000697928 RCV000756859 RCV001173299 RCV002336372
NM_000371.4(TTR):c.407A>C (p.Tyr136Ser)	SNV Germline	Chr18:31598638	Likely pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter	CA297535	rs_730881167	2 SubmittersRCV000223926 RCV003514317
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)	SNV Germline	Chr2:178549713	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy not specified Amyloidosis, hereditary systemic 1 Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA237707	rs_369342933	9 SubmittersRCV000172201 RCV000272895 RCV000378832 RCV000383680 RCV000610659 RCV000852790 RCV001086287 RCV002354433 RCV000286593 RCV000326514 RCV001798611
NM_001032283.3(TMPO):c.565+1696C>T	SNV Germline	Chr12:98533534	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1T Loeys-Dietz syndrome 2 Arrhythmogenic right ventricular cardiomyopathy Amyloidosis TMPO-related disorder	Criteria Provided Conflicting Classifications	CA238435	rs_141443652	13 SubmittersRCV000172597 RCV000223911 RCV000578085 RCV000625188 RCV001081032 RCV000852682 RCV003937542
NM_000371.4(TTR):c.384C>T (p.Ala128=)	SNV Germline	Chr18:31598615	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyloidosis, hereditary systemic 1 Charcot-Marie-Tooth disease Cardiomyopathy Cardiovascular phenotype TTR-related disorder	Criteria Provided Conflicting Classifications	CA245099	rs_143906738	14 SubmittersRCV000178080 RCV000724798 RCV001086449 RCV001173307 RCV001170384 RCV002354458 RCV004553003
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	SNV Germline	Chr12:32877916	Conflicting classifications of pathogenicity	not specified Ventricular fibrillation Cardiovascular phenotype Condition: not provided Amyloidosis, hereditary systemic 1 Arrhythmogenic right ventricular dysplasia 9 Cardiomyopathy PKP2-related disorder Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA012595	rs_200069860	10 SubmittersRCV000183732 RCV000208208 RCV000251473 RCV000766568 RCV000852677 RCV001087213 RCV001181080 RCV004742321 RCV004806177
NM_004048.4(B2M):c.67+1G>T	SNV Germline	Chr15:44711614	Likely pathogenic	Hypoproteinemia, hypercatabolic Familial visceral amyloidosis, Ostertag type Hypoproteinemia, hypercatabolic	Criteria Provided Single Submitter	CA279634	rs_863225287	2 SubmittersRCV000201934 RCV002478720
NM_000258.3(MYL3):c.92G>A (p.Arg31His)	SNV Germline	Chr3:46863299	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Cardiomyopathy Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA045250	rs_199639940	6 SubmittersRCV000221537 RCV000629148 RCV000771967 RCV000852967 RCV004020625
NM_000371.4(TTR):c.337-3T>C	SNV Germline	Chr18:31598565	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA8928496	rs_774027595	5 SubmittersRCV000214127 RCV000540460 RCV000621559 RCV000786264
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)	SNV Germline	Chr18:31598649	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10577055	rs_876658108	4 SubmittersRCV000217098 RCV000588714 RCV000809803 RCV002327093
NM_000371.4(TTR):c.327G>T (p.Glu109Asp)	SNV Germline	Chr18:31595246	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10581186	rs_876661395	3 SubmittersRCV000223752 RCV003626611 RCV002444876
NM_021871.4(FGA):c.616C>G (p.Gln206Glu)	SNV Germline	Chr4:154586813	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type FGA-related disorder	Criteria Provided Conflicting Classifications	CA3115245	rs_560732073	2 SubmittersRCV000279650 RCV000371491 RCV004735495
NM_021871.4(FGA):c.450G>A (p.Gln150=)	SNV Germline	Chr4:154587572	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia not specified	Criteria Provided Conflicting Classifications	CA3115296	rs_368446857	2 SubmittersRCV000283016 RCV000340627 RCV004526668
NM_021871.4(FGA):c.1444G>A (p.Val482Met)	SNV Germline	Chr4:154585985	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Familial dysfibrinogenemia Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3115086	rs_139146037	3 SubmittersRCV000350523 RCV000388685 RCV002502338 RCV004975472
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)	SNV Germline	Chr4:154586012	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3115087	rs_200378626	4 SubmittersRCV000296696 RCV000334967 RCV001702008 RCV002520212
NM_021871.4(FGA):c.244A>C (p.Thr82Pro)	SNV Germline	Chr4:154588913	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Conflicting Classifications	CA3115349	rs_199554805	1 SubmittersRCV000344051 RCV000404726
NM_021871.4(FGA):c.*50T>G	SNV Germline	Chr4:154585444	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Conflicting Classifications	CA3114996	rs_369606098	1 SubmittersRCV000266418 RCV000358780
NM_021871.4(FGA):c.1838A>G (p.His613Arg)	SNV Germline	Chr4:154585591	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3115024	rs_201686865	2 SubmittersRCV000323812 RCV000381748 RCV004021942
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	SNV Germline	Chr4:154585606	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3115027	rs_370873387	2 SubmittersRCV000270905 RCV000328375 RCV002520211
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)	SNV Germline	Chr11:116836050	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Familial visceral amyloidosis, Ostertag type Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6289784	rs_140770089	6 SubmittersRCV000328973 RCV001105372 RCV001726099 RCV001193575 RCV002348041
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)	SNV Germline	Chr11:116836158	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Familial High Density Lipoprotein Deficiency Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6289804	rs_574061789	4 SubmittersRCV000284267 RCV000337002 RCV001859796 RCV002328802
NM_000039.3(APOA1):c.168G>A (p.Gln56=)	SNV Germline	Chr11:116837033	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 1 Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 2 Hypoalphalipoproteinemia, primary, 2, intermediate Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6289880	rs_760886281	4 SubmittersRCV000314646 RCV000367038 RCV002480100 RCV002522179 RCV002402017
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg)	SNV Germline	Chr11:116836114	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6289795	rs_757899657	3 SubmittersRCV000285625 RCV000382429 RCV001859795 RCV002338877
NM_000039.3(APOA1):c.116C>T (p.Ala39Val)	SNV Germline	Chr11:116837085	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Familial visceral amyloidosis, Ostertag type Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6289893	rs_746314593	3 SubmittersRCV000308803 RCV000398922 RCV002520674 RCV004984796
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)	SNV Germline	Chr11:116836328	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Familial visceral amyloidosis, Ostertag type Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA6289832	rs_138407155	5 SubmittersRCV000278412 RCV000396000 RCV001859797 RCV002436142 RCV001269105
NM_000039.3(APOA1):c.28G>A (p.Val10Met)	SNV Germline	Chr11:116837360	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA6289929	rs_750125257	3 SubmittersRCV000268859 RCV000365762 RCV002436143 RCV001850601
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)	SNV Germline	Chr12:69350127	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6679730	rs_764263034	4 SubmittersRCV000367718 RCV004984807 RCV002520834 RCV003987504
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	SNV Germline	Chr4:154587520	Pathogenic	Condition: not provided Congenital afibrinogenemia Congenital afibrinogenemia Familial dysfibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Multiple Submitters No Conflicts	CA3115289	rs_755117226	4 SubmittersRCV001380954 RCV000454272 RCV002502594
NM_000371.4(TTR):c.194C>T (p.Ala65Val)	SNV Germline	Chr18:31593020	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA402156873	rs_730881169	3 SubmittersRCV000518305 RCV001054408 RCV002420303
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)	SNV Germline	Chr18:31595139	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA402156925	rs_1555631393	3 SubmittersRCV000518274 RCV001857934 RCV002431479
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)	SNV Germline	Chr18:31595163	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA402156968	rs_1555631402	4 SubmittersRCV000587406 RCV002456283
NM_000371.4(TTR):c.201-16C>T	SNV Germline	Chr18:31595104	Conflicting classifications of pathogenicity	Condition: not provided Amyloidosis, hereditary systemic 1	Criteria Provided Conflicting Classifications	CA297738801	rs_941725460	2 SubmittersRCV000589537 RCV002530903
NM_000371.4(TTR):c.302C>T (p.Ala101Val)	SNV Germline	Chr18:31595221	Conflicting classifications of pathogenicity	Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA402157096	rs_1555631417	8 SubmittersRCV000586381 RCV001221565 RCV002438524 RCV003486886
NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter)	SNV Germline	Chr7:23260003	Pathogenic	Amyloidosis, primary localized cutaneous, 3	Criteria Provided Single Submitter	CA4187446	rs_140352180	2 SubmittersRCV000591352
NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter)	SNV Germline	Chr7:23260098	Pathogenic	Amyloidosis, primary localized cutaneous, 3	No Assertion Criteria Provided	CA4187474	rs_770211260	1 SubmittersRCV000594391
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)	SNV Germline	Chr2:178562860	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J not specified Primary dilated cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA1988949	rs_188323108	7 SubmittersRCV000852804 RCV001085404 RCV000825689 RCV001293123 RCV000643302 RCV004533357
NM_000371.4(TTR):c.206C>G (p.Thr69Ser)	SNV Germline	Chr18:31595125	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter	CA402156905	rs_1555631387	1 SubmittersRCV000647353
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)	SNV Germline	Chr12:2664928	Conflicting classifications of pathogenicity	Long QT syndrome Amyloidosis	Criteria Provided Conflicting Classifications		rs_758143691	2 SubmittersRCV000689099 RCV000852664
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	SNV Germline	Chr18:31592942	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_11541795	3 SubmittersRCV000685149 RCV002331319
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)	SNV Germline	Chr18:31592991	Pathogenic/Likely pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts		rs_1567945684	2 SubmittersRCV000714132 RCV000699004
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)	SNV Germline	Chr18:31595161	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1567946170	2 SubmittersRCV000693859 RCV002442455
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	SNV Germline	Chr18:31595158	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1254341785	6 SubmittersRCV000700173 RCV000756862 RCV002458280
NM_000371.4(TTR):c.112G>A (p.Asp38Asn)	SNV Germline	Chr18:31592938	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1567945632	2 SubmittersRCV000693117 RCV002325388
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)	SNV Germline	Chr18:31598616	Conflicting classifications of pathogenicity	Cardiomyopathy Amyloidosis, hereditary systemic 1	Criteria Provided Conflicting Classifications		rs_267607159	2 SubmittersRCV000770562 RCV001378795
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	SNV Germline	Chr4:154586507	Pathogenic/Likely pathogenic	Hypofibrinogenemia Condition: not provided Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Familial dysfibrinogenemia	Criteria Provided Multiple Submitters No Conflicts		rs_776817952	3 SubmittersRCV000852248 RCV001784377 RCV002500996
NM_021871.4(FGA):c.532C>T (p.Arg178Ter)	SNV Germline	Chr4:154586897	Pathogenic/Likely pathogenic	FGA-related disorder Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia Familial dysfibrinogenemia	Criteria Provided Multiple Submitters No Conflicts		rs_140911890	2 SubmittersRCV000779434 RCV002487602
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)	SNV Germline	Chr18:31593012	Conflicting classifications of pathogenicity	not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1340627860	3 SubmittersRCV000781919 RCV001342557 RCV002406713
NM_000371.4(TTR):c.220G>A (p.Glu74Lys)	SNV Germline	Chr18:31595139	Pathogenic	Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1555631393	3 SubmittersRCV000788781 RCV002249489 RCV002424785
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)	SNV Germline	Chr21:25891808	Conflicting classifications of pathogenicity	Hereditary cerebral hemorrhage with amyloidosis Cerebral amyloid angiopathy, APP-related Alzheimer disease	Criteria Provided Conflicting Classifications		rs_201269325	2 SubmittersRCV000790931 RCV000790930 RCV001869244
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	SNV Germline	Chr18:31592954	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1598844112	4 SubmittersRCV000819070 RCV001811504 RCV002381854
NM_000371.4(TTR):c.160A>G (p.Arg54Gly)	SNV Germline	Chr18:31592986	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1598844184	1 SubmittersRCV000817566
NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	SNV Germline	Chr18:31592999	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1598844213	5 SubmittersRCV000797923 RCV002406755 RCV003117589
NM_000371.4(TTR):c.229G>A (p.Gly77Arg)	SNV Germline	Chr18:31595148	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1598845111	1 SubmittersRCV000817641
NM_000371.4(TTR):c.69G>A (p.Thr23=)	SNV Germline	Chr18:31591971	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Amyloidosis, hereditary systemic 1	Criteria Provided Conflicting Classifications		rs_752579437	4 SubmittersRCV000828910 RCV002469304 RCV002372375 RCV002538272
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)	SNV Germline	Chr18:31593026	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121918090	3 SubmittersRCV000990082 RCV002416270
NM_000371.4(TTR):c.277A>G (p.Ile93Val)	SNV Germline	Chr18:31595196	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Hereditary amyloidosis	Criteria Provided Multiple Submitters No Conflicts		rs_1598845164	3 SubmittersRCV000990083 RCV001257097
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)	SNV Germline	Chr18:31595140	Pathogenic/Likely pathogenic	not specified Condition: not provided Cardiovascular phenotype Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts		rs_1598845097	4 SubmittersRCV001002179 RCV001288933 RCV002416289 RCV003514451
NM_000371.4(TTR):c.161G>C (p.Arg54Thr)	SNV Germline	Chr18:31592987	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1598844187	1 SubmittersRCV001042832
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)	SNV Germline	Chr18:31593019	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121918078	3 SubmittersRCV001054625 RCV001288932 RCV002409453
NM_000371.4(TTR):c.223C>A (p.Leu75Met)	SNV Germline	Chr18:31595142	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_2073510448	1 SubmittersRCV001044452
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)	SNV Germline	Chr18:31595171	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts		rs_2073510805	3 SubmittersRCV001048418 RCV001173295
NM_000371.4(TTR):c.323A>G (p.His108Arg)	SNV Germline	Chr18:31595242	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2073511411	2 SubmittersRCV001058837 RCV002445306
NM_000371.4(TTR):c.326A>T (p.Glu109Val)	SNV Germline	Chr18:31595245	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_2073511444	3 SubmittersRCV001049648 RCV002445262 RCV001288935
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)	SNV Germline	Chr11:116837023	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Hypoalphalipoproteinemia, primary, 1 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_199759119	5 SubmittersRCV001106513 RCV001106514 RCV001873509 RCV002411631 RCV003994213
NM_000371.3(TTR):c.-102G>T	SNV Germline	Chr18:31591801	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_967658213	2 SubmittersRCV001125783 RCV001655682
NM_021871.4(FGA):c.*133G>A	SNV Germline	Chr4:154585361	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Conflicting Classifications		rs_182736373	1 SubmittersRCV001148383 RCV001148384
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)	SNV Germline	Chr4:154585511	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Conflicting Classifications		rs_199571440	1 SubmittersRCV001149941 RCV001149942
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)	SNV Germline	Chr4:154585517	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia	Criteria Provided Conflicting Classifications		rs_771429165	1 SubmittersRCV001149943 RCV001149944
NM_021871.4(FGA):c.1718G>A (p.Arg573His)	SNV Germline	Chr4:154585711	Conflicting classifications of pathogenicity	Familial visceral amyloidosis, Ostertag type Congenital afibrinogenemia	Criteria Provided Conflicting Classifications		rs_78506343	1 SubmittersRCV001145521 RCV001145522
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	SNV Germline	Chr4:154586357	Conflicting classifications of pathogenicity	Congenital afibrinogenemia Condition: not provided Familial visceral amyloidosis, Ostertag type Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201105899	3 SubmittersRCV001145727 RCV001772340 RCV001145726 RCV002557120
NM_000371.4(TTR):c.131C>T (p.Pro44Leu)	SNV Germline	Chr18:31592957	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1415606768	1 SubmittersRCV001220285
NM_000371.4(TTR):c.155T>C (p.Val52Ala)	SNV Germline	Chr18:31592981	Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2073493951	2 SubmittersRCV001215017 RCV002402641
NM_000371.4(TTR):c.200G>T (p.Gly67Val)	SNV Germline	Chr18:31593026	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121918090	3 SubmittersRCV001207386 RCV002418694
NM_000371.4(TTR):c.224T>G (p.Leu75Arg)	SNV Germline	Chr18:31595143	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_121918079	1 SubmittersRCV001211103
NM_000371.4(TTR):c.258A>T (p.Glu86Asp)	SNV Germline	Chr18:31595177	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_2073510816	1 SubmittersRCV001204571
NM_000371.4(TTR):c.172G>C (p.Asp58His)	SNV Germline	Chr18:31592998	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2073494217	2 SubmittersRCV001236265 RCV002402741
NM_000371.4(TTR):c.167C>A (p.Ala56Asp)	SNV Germline	Chr18:31592993	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_2073494094	1 SubmittersRCV001239365
NM_002510.3(GPNMB):c.1330C>T (p.Arg444Ter)	SNV Germline	Chr7:23270076	Likely pathogenic	Amyloidosis, primary localized cutaneous, 3	Criteria Provided Single Submitter		rs_547758286	1 SubmittersRCV001263469
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)	SNV Germline	Chr18:31595178	Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_11541799	3 SubmittersRCV001303075 RCV004793397
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)	SNV Germline	Chr18:31593005	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_113625622	2 SubmittersRCV001377431 RCV002404893
NM_000371.4(TTR):c.186G>C (p.Glu62Asp)	SNV Germline	Chr18:31593012	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1340627860	1 SubmittersRCV001379926
NM_000371.4(TTR):c.217G>A (p.Gly73Arg)	SNV Germline	Chr18:31595136	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_2144409459	1 SubmittersRCV001378793
NM_000371.4(TTR):c.251T>C (p.Phe84Ser)	SNV Germline	Chr18:31595170	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_121918099	1 SubmittersRCV001378794
NM_000371.4(TTR):c.94C>G (p.Leu32Val)	SNV Germline	Chr18:31592920	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Amyloidosis	Criteria Provided Multiple Submitters No Conflicts		rs_2144406525	3 SubmittersRCV001389002 RCV002377579 RCV003447595
NM_000371.4(TTR):c.182G>T (p.Trp61Leu)	SNV Germline	Chr18:31593008	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1567945702	1 SubmittersRCV001389003
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	SNV Germline	Chr18:31595244	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121918082	7 SubmittersRCV001386305 RCV001530146 RCV002322365
NM_000371.4(TTR):c.381T>G (p.Ile127Met)	SNV Germline	Chr18:31598612	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_751430411	2 SubmittersRCV001386306 RCV002357290
NM_000371.4(TTR):c.365C>G (p.Pro122Arg)	SNV Germline	Chr18:31598596	Conflicting classifications of pathogenicity	Condition: not provided Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_11541793	3 SubmittersRCV001508824 RCV003626673 RCV004681217
NM_000371.4(TTR):c.214T>C (p.Ser72Pro)	SNV Germline/somatic	Chr18:31595133	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2144409444	2 SubmittersRCV001534617 RCV002424971
NM_000371.4(TTR):c.-15C>T	SNV Germline	Chr18:31591888	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Carpal tunnel syndrome 1 Hyperthyroxinemia, dystransthyretinemic Amyloidosis, hereditary systemic 1	Criteria Provided Conflicting Classifications		rs_746692906	3 SubmittersRCV001615018 RCV002405267 RCV002501973
NM_000371.4(TTR):c.70-16T>C	SNV Germline	Chr18:31592880	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_759512847	7 SubmittersRCV001716255 RCV001698892 RCV002073275 RCV002360998
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)	SNV Germline	Chr18:31595212	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_958191819	4 SubmittersRCV001718568 RCV002440842 RCV003329411
NM_021871.4(FGA):c.364+1G>A	SNV Unknown	Chr4:154588792	Likely pathogenic	Congenital afibrinogenemia Familial dysfibrinogenemia Familial visceral amyloidosis, Ostertag type	Criteria Provided Single Submitter		rs_778779380	1 SubmittersRCV002506823
NM_000371.4(TTR):c.425T>C (p.Val142Ala)	SNV Germline	Chr18:31598656	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Multiple Submitters No Conflicts		rs_2144414426	2 SubmittersRCV001808154
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu)	SNV Germline	Chr13:48261223	Likely pathogenic	ABri amyloidosis	Criteria Provided Single Submitter		rs_2137997888	1 SubmittersRCV001809239
NM_004048.4(B2M):c.278C>A (p.Thr93Asn)	SNV Germline	Chr15:44715633	Conflicting classifications of pathogenicity	Hypoproteinemia, hypercatabolic Hypoproteinemia, hypercatabolic Familial visceral amyloidosis, Ostertag type Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_778103494	3 SubmittersRCV001909894 RCV002490246 RCV004042781
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)	SNV Germline	Chr18:31595230	Pathogenic/Likely pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121918072	2 SubmittersRCV001999713 RCV002324398
NM_000371.4(TTR):c.206C>T (p.Thr69Ile)	SNV Germline	Chr18:31595125	Pathogenic	Amyloidosis, hereditary systemic 1 TTR-related disorder	Criteria Provided Single Submitter		rs_1555631387	2 SubmittersRCV001942058 RCV004552134
NM_000371.4(TTR):c.328C>G (p.His110Asp)	SNV Germline	Chr18:31595247	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_121918074	2 SubmittersRCV002049135 RCV002324505
NM_000371.4(TTR):c.114T>A (p.Asp38Glu)	SNV Germline	Chr18:31592940	Pathogenic	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_779619795	2 SubmittersRCV001904544 RCV003299056
NM_000371.4(TTR):c.173A>T (p.Asp58Val)	SNV Germline	Chr18:31592999	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1598844213	1 SubmittersRCV001975098
NM_000371.4(TTR):c.89G>A (p.Cys30Tyr)	SNV Germline	Chr18:31592915	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_2144406508	1 SubmittersRCV001986200
NM_000371.4(TTR):c.221A>C (p.Glu74Ala)	SNV Germline	Chr18:31595140	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter		rs_1598845097	1 SubmittersRCV002024760
NM_000371.4(TTR):c.148G>T (p.Val50Leu)	SNV Germline	Chr18:31592974	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003050501
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)	SNV Germline	Chr18:31592991	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003064510
NM_000371.4(TTR):c.377C>A (p.Thr126Asn)	SNV Germline	Chr18:31598608	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003064512
NM_000371.4(TTR):c.119T>C (p.Val40Ala)	SNV Germline	Chr18:31592945	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003084912
NM_000371.4(TTR):c.208A>G (p.Ser70Gly)	SNV Germline	Chr18:31595127	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003100652
NM_000371.4(TTR):c.235A>G (p.Thr79Ala)	SNV Germline	Chr18:31595154	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003100653
NM_000371.4(TTR):c.268A>C (p.Lys90Gln)	SNV Germline	Chr18:31595187	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003084913
NM_000371.4(TTR):c.251T>A (p.Phe84Tyr)	SNV Germline	Chr18:31595170	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV002839096
NM_000371.4(TTR):c.350C>A (p.Ala117Asp)	SNV Germline	Chr18:31598581	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV002923158
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)	SNV Germline	Chr21:25897668	Conflicting classifications of pathogenicity	Alzheimer disease Hereditary cerebral hemorrhage with amyloidosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002926844 RCV003994471
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)	SNV Germline	Chr18:31592989	Conflicting classifications of pathogenicity	Amyloidosis, hereditary systemic 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications			2 SubmittersRCV002904760 RCV003358018
NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)	SNV Germline	Chr11:116837075	Likely pathogenic	Familial visceral amyloidosis, Ostertag type	Criteria Provided Single Submitter			1 SubmittersRCV003314532
NM_002510.3(GPNMB):c.1118-2A>G	SNV Germline	Chr7:23267884	Pathogenic	Amyloidosis, primary localized cutaneous, 3	Criteria Provided Single Submitter			1 SubmittersRCV003325298
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)	SNV Germline	Chr18:31592938	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003335804
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)	SNV Germline	Chr18:31595230	Pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003516383
NM_000371.4(TTR):c.326A>G (p.Glu109Gly)	SNV Germline	Chr18:31595245	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003515823
NM_000371.4(TTR):c.268A>G (p.Lys90Glu)	SNV Germline	Chr18:31595187	Likely pathogenic	Amyloidosis, hereditary systemic 1	Criteria Provided Single Submitter			1 SubmittersRCV003627531
NM_000371.4(TTR):c.236C>T (p.Thr79Ile)	SNV Germline	Chr18:31595155	Likely pathogenic	Amyloidosis	Criteria Provided Single Submitter			1 SubmittersRCV004775629
NM_002510.3(GPNMB):c.393T>G (p.Tyr131Ter)	SNV Germline	Chr7:23256917	Pathogenic	Amyloidosis, primary localized cutaneous, 3	Criteria Provided Single Submitter			1 SubmittersRCV004797292

NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg)

SNV
Germline

Chr13:48261222

Pathogenic

ABri amyloidosis

No Assertion Criteria Provided

CA117883

rs_104894417

1 SubmittersRCV000006345

NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)

SNV
Germline

Chr5:38925231

Pathogenic

Amyloidosis, primary localized cutaneous, 1

No Assertion Criteria Provided

CA119093

rs_63750567

1 SubmittersRCV000008251

NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)

SNV
Germline

Chr5:38923237

Pathogenic

Amyloidosis, primary localized cutaneous, 1

No Assertion Criteria Provided

CA119094

rs_63750560

1 SubmittersRCV000008252

NM_000371.4(TTR):c.148G>A (p.Val50Met)

SNV
Germline

Chr18:31592974

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
TTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256790

rs_28933979

37 SubmittersRCV000014359 RCV000159423 RCV000770555 RCV001173292 RCV002390106 RCV002476964 RCV004549361

NM_000371.4(TTR):c.157T>A (p.Phe53Ile)

SNV
Germline

Chr18:31592983

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256792

rs_121918068

1 SubmittersRCV000014360

NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)

SNV
Germline

Chr18:31598632

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256794

rs_121918075

4 SubmittersRCV000014361 RCV001582481 RCV002354160

NM_000371.4(TTR):c.233T>A (p.Leu78His)

SNV
Germline

Chr18:31595152

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256796

rs_121918069

9 SubmittersRCV000014362 RCV002444430 RCV000159437

NM_000371.4(TTR):c.238A>G (p.Thr80Ala)

SNV
Germline

Chr18:31595157

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256798

rs_121918070

15 SubmittersRCV000014363 RCV000159427 RCV000852477 RCV001173293 RCV002453258

NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)

SNV
Germline

Chr18:31595209

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
not specified
Cardiovascular phenotype
Condition: not provided
Charcot-Marie-Tooth disease
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
Carpal tunnel syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256800

rs_121918071

9 SubmittersRCV000014364 RCV001000742 RCV002433454 RCV000519257 RCV001173289 RCV002504783

NM_000371.4(TTR):c.311T>G (p.Ile104Ser)

SNV
Germline

Chr18:31595230

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256802

rs_121918072

4 SubmittersRCV000014365 RCV002321479 RCV001810859

NM_000371.4(TTR):c.391C>A (p.Leu131Met)

SNV
Germline

Chr18:31598622

Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA256804

rs_121918073

2 SubmittersRCV000014366 RCV003162251

NM_000371.4(TTR):c.424G>A (p.Val142Ile)

SNV
Germline

Chr18:31598655

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Bone marrow hypocellularity
Anemia
Pancytopenia
ATTRV122I amyloidosis
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
TTR-related disorder
Tip-toe gait
Amyloidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA214382

rs_76992529

45 SubmittersRCV000014368 RCV000078674 RCV000211747 RCV000243161 RCV000735409 RCV000853387 RCV001173290 RCV002476965 RCV003335038 RCV003319166 RCV004798727

NM_000371.4(TTR):c.328C>A (p.His110Asn)

SNV
Germline

Chr18:31595247

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Heart failure
Charcot-Marie-Tooth disease
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA179461

rs_121918074

19 SubmittersRCV000014369 RCV000152541 RCV000621211 RCV000770556 RCV000857889 RCV000852746 RCV001173306 RCV001256816

NM_000371.4(TTR):c.185A>G (p.Glu62Gly)

SNV
Germline

Chr18:31593011

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256806

rs_11541796

1 SubmittersRCV000014370

NM_000371.4(TTR):c.210T>G (p.Ser70Arg)

SNV
Germline

Chr18:31595129

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256808

rs_121918076

5 SubmittersRCV000014371 RCV002415415 RCV003480030

NM_000371.4(TTR):c.149T>C (p.Val50Ala)

SNV
Germline

Chr18:31592975

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256810

rs_79977247

3 SubmittersRCV000014372

NM_000371.4(TTR):c.166G>C (p.Ala56Pro)

SNV
Germline

Chr18:31592992

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

CA256812

rs_121918077

2 SubmittersRCV000014374

NM_000371.4(TTR):c.416C>T (p.Thr139Met)

SNV
Germline

Chr18:31598647

Conflicting classifications of pathogenicity

AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF
not specified
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiomyopathy
Charcot-Marie-Tooth disease
Hyperthyroxinemia, dystransthyretinemic

Criteria Provided
Conflicting Classifications

CA123101

rs_28933981

14 SubmittersRCV000014376 RCV000036376 RCV000618448 RCV000714134 RCV000990084 RCV001170385 RCV001173303 RCV003993656

NM_000371.4(TTR):c.233T>G (p.Leu78Arg)

SNV
Germline

Chr18:31595152

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256814

rs_121918069

1 SubmittersRCV000014377

NM_000371.4(TTR):c.199G>C (p.Gly67Arg)

SNV
Germline

Chr18:31593025

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256816

rs_387906523

1 SubmittersRCV000014378

NM_000371.4(TTR):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr18:31592959

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256818

rs_104894664

1 SubmittersRCV000014379

NM_000371.4(TTR):c.224T>C (p.Leu75Pro)

SNV
Germline

Chr18:31595143

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256821

rs_121918079

1 SubmittersRCV000014380

NM_000371.4(TTR):c.209G>T (p.Ser70Ile)

SNV
Germline

Chr18:31595128

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256823

rs_121918080

1 SubmittersRCV000014381

NM_000371.4(TTR):c.148G>C (p.Val50Leu)

SNV
Germline

Chr18:31592974

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA256825

rs_28933979

4 SubmittersRCV000014382 RCV002390107 RCV001173291

NM_000371.4(TTR):c.205A>G (p.Thr69Ala)

SNV
Germline

Chr18:31595124

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256827

rs_121918081

1 SubmittersRCV000014383

NM_000371.4(TTR):c.325G>C (p.Glu109Gln)

SNV
Germline

Chr18:31595244

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256829

rs_121918082

8 SubmittersRCV000014384 RCV000236028 RCV002321480

NM_000371.4(TTR):c.270A>C (p.Lys90Asn)

SNV
Germline

Chr18:31595189

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256831

rs_267607160

1 SubmittersRCV000014385

NM_000371.4(TTR):c.88T>C (p.Cys30Arg)

SNV
Germline

Chr18:31592914

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA256833

rs_121918083

7 SubmittersRCV000014386 RCV000993524 RCV003298033

NM_000371.4(TTR):c.272T>C (p.Val91Ala)

SNV
Germline

Chr18:31595191

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256835

rs_121918084

2 SubmittersRCV000014387

NM_000371.4(TTR):c.262A>T (p.Ile88Leu)

SNV
Germline

Chr18:31595181

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256837

rs_121918085

12 SubmittersRCV000014388 RCV001288934 RCV002476966 RCV002426503

NM_000371.4(TTR):c.241G>A (p.Glu81Lys)

SNV
Germline

Chr18:31595160

Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA256839

rs_121918086

2 SubmittersRCV000014389 RCV002453259

NM_000371.4(TTR):c.350C>G (p.Ala117Gly)

SNV
Unknown

Chr18:31598581

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256841

rs_121918087

1 SubmittersRCV000014390

NM_000371.4(TTR):c.379A>G (p.Ile127Val)

SNV
Germline

Chr18:31598610

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
not specified
Condition: not provided
Cardiovascular phenotype
Carpal tunnel syndrome 1
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
Hereditary amyloidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256843

rs_121918089

13 SubmittersRCV000014392 RCV000506089 RCV001090344 RCV002354161 RCV002504784 RCV003458163

NM_000371.4(TTR):c.200G>C (p.Gly67Ala)

SNV
Germline

Chr18:31593026

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256845

rs_121918090

4 SubmittersRCV000014393 RCV000516227 RCV002415416

NM_000371.4(TTR):c.250T>C (p.Phe84Leu)

SNV
Germline

Chr18:31595169

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Amyloidosis, hereditary systemic 1
Carpal tunnel syndrome
Hyperthyroxinemia, dystransthyretinemic
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256847

rs_121918091

10 SubmittersRCV000014395 RCV000236623 RCV000763027 RCV002433455

NM_000371.4(TTR):c.118G>A (p.Val40Ile)

SNV
Germline

Chr18:31592944

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256849

rs_121918093

7 SubmittersRCV000014397 RCV000159420 RCV002336083

NM_000371.4(TTR):c.157T>C (p.Phe53Leu)

SNV
Germline

Chr18:31592983

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256851

rs_121918068

6 SubmittersRCV000014398 RCV001810860 RCV002390108

NM_000371.4(TTR):c.95T>C (p.Leu32Pro)

SNV
Germline

Chr18:31592921

Pathogenic

Amyloidosis, hereditary systemic 1
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA256853

rs_121918094

3 SubmittersRCV000014399 RCV001001339

NM_000371.4(TTR):c.371G>A (p.Arg124His)

SNV
Germline

Chr18:31598602

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA179467

rs_121918095

13 SubmittersRCV000014400 RCV000152543 RCV001170383 RCV000586735 RCV000621591 RCV001173296

NM_000371.4(TTR):c.199G>A (p.Gly67Arg)

SNV
Germline

Chr18:31593025

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA256855

rs_387906523

1 SubmittersRCV000014401

NM_000371.4(TTR):c.191T>C (p.Phe64Ser)

SNV
Germline

Chr18:31593017

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA123116

rs_104894665

3 SubmittersRCV000014403 RCV002408461

NM_000371.4(TTR):c.218G>A (p.Gly73Glu)

SNV
Germline

Chr18:31595137

Pathogenic

Amyloidosis, hereditary systemic 1

No Assertion Criteria Provided

CA123112

rs_121918097

1 SubmittersRCV004555832

NM_000371.4(TTR):c.113A>G (p.Asp38Gly)

SNV
Germline

Chr18:31592939

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123114

rs_121918098

3 SubmittersRCV000036373

NM_000371.4(TTR):c.149T>G (p.Val50Gly)

SNV
Germline

Chr18:31592975

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

CA123118

rs_79977247

2 SubmittersRCV001857350

NM_000371.4(TTR):c.265T>C (p.Tyr89His)

SNV
Germline

Chr18:31595184

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123120

rs_121918100

7 SubmittersRCV000586493 RCV002426504 RCV001811140

NM_000371.4(TTR):c.349G>T (p.Ala117Ser)

SNV
Germline

Chr18:31598580

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
Carpal tunnel syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256859

rs_267607161

9 SubmittersRCV000014410 RCV002453260 RCV000223869 RCV002496359

NM_000239.3(LYZ):c.221T>C (p.Ile74Thr)

SNV
Germline

Chr12:69350192

Pathogenic

Amyloidosis, hereditary systemic 5

No Assertion Criteria Provided

CA123901

rs_121913547

1 SubmittersRCV004555833

NM_000239.3(LYZ):c.199G>C (p.Asp67His)

SNV
Germline

Chr12:69350170

Pathogenic

Amyloidosis, hereditary systemic 5

No Assertion Criteria Provided

CA123903

rs_387906535

1 SubmittersRCV004555834

NM_000239.3(LYZ):c.244T>C (p.Trp82Arg)

SNV
Germline

Chr12:69350215

Pathogenic

Familial visceral amyloidosis, Ostertag type
Condition: not provided

Criteria Provided
Single Submitter

CA123906

rs_387906536

2 SubmittersRCV000015452 RCV001509432

NM_000239.3(LYZ):c.223T>A (p.Phe75Ile)

SNV
Germline

Chr12:69350194

Pathogenic

Amyloidosis, hereditary systemic 5

No Assertion Criteria Provided

CA123909

rs_121913549

1 SubmittersRCV004555835

NM_000239.3(LYZ):c.244T>A (p.Trp82Arg)

SNV
Germline

Chr12:69350215

Pathogenic

Familial visceral amyloidosis, Ostertag type
Condition: not provided

Criteria Provided
Single Submitter

CA123912

rs_387906536

2 SubmittersRCV000015454 RCV003556025

NM_021871.4(FGA):c.104G>A (p.Arg35His)

SNV
Germline

Chr4:154589513

Pathogenic

Dysfibrinogenemia
Hypofibrinogenemia
Familial dysfibrinogenemia
FGA-related disorder
Abnormal bleeding
Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130224

rs_121909607

9 SubmittersRCV000030941 RCV000851581 RCV002228034 RCV004532379 RCV000851971 RCV002476987 RCV001509236

NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)

SNV
Germline

Chr4:154585711

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Condition: not provided
FGA-related disorder

Criteria Provided
Conflicting Classifications

CA126489

rs_78506343

3 SubmittersRCV000017869 RCV001753419 RCV004528118

NM_021871.4(FGA):c.1634A>T (p.Glu545Val)

SNV
Germline

Chr4:154585795

Pathogenic

Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial visceral amyloidosis, Ostertag type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA126494

rs_121909612

4 SubmittersRCV002490381 RCV000017871 RCV003480033

NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)

SNV
Germline

Chr4:154585712

Likely pathogenic

FIBRINOGEN DUSART
Deep venous thrombosis
Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Multiple Submitters
No Conflicts

CA126498

rs_121909613

3 SubmittersRCV000017872 RCV002222001 RCV002490382

NM_021871.4(FGA):c.510+1G>T

SNV
Germline

Chr4:154587511

Pathogenic

Congenital afibrinogenemia
Familial hypodysfibrinogenemia
Condition: not provided
Hypofibrinogenemia
Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial dysfibrinogenemia

Criteria Provided
Multiple Submitters
No Conflicts

CA126508

rs_146387238

7 SubmittersRCV000017877 RCV000030942 RCV002513088 RCV000851811 RCV002496394 RCV004700245

NM_021871.4(FGA):c.991A>G (p.Thr331Ala)

SNV
Germline

Chr4:154586438

Conflicting classifications of pathogenicity

Venous thromboembolism, susceptibility to
not specified
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA126515

rs_6050

7 SubmittersRCV000017882 RCV000246757 RCV000338448 RCV000405212 RCV001509235

NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)

SNV
Germline

Chr11:116837053

Pathogenic

Hypoalphalipoproteinemia, primary, 2, intermediate
Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 2
Condition: not provided
Familial amyloid polyneuropathy, Iowa type

Criteria Provided
Multiple Submitters
No Conflicts

CA127561

rs_28931574

3 SubmittersRCV002504810 RCV003556050 RCV000019506

NM_000484.4(APP):c.2077G>C (p.Glu693Gln)

SNV
Germline

Chr21:25891856

Pathogenic

ABeta amyloidosis, dutch type
Alzheimer disease
Cerebral amyloid angiopathy, APP-related

Criteria Provided
Multiple Submitters
No Conflicts

CA127790

rs_63750579

3 SubmittersRCV000019713 RCV001386879 RCV002272024

NM_000484.4(APP):c.2075C>G (p.Ala692Gly)

SNV
Germline

Chr21:25891858

Pathogenic

ABetaA21G amyloidosis
Condition: not provided
Alzheimer disease type 1
Alzheimer disease

No Assertion Criteria Provided

CA127794

rs_63750671

3 SubmittersRCV000019717 RCV000084561 RCV000019718 RCV000020306

NM_000484.4(APP):c.2078A>G (p.Glu693Gly)

SNV
Germline

Chr21:25891855

Pathogenic

ABeta amyloidosis, Arctic type
Alzheimer disease type 1
Alzheimer disease
Condition: not provided

No Assertion Criteria Provided

CA127801

rs_63751039

3 SubmittersRCV000019726 RCV000019725 RCV000020307 RCV000084563

NM_000484.4(APP):c.2077G>A (p.Glu693Lys)

SNV
Germline

Chr21:25891856

Pathogenic

ABeta amyloidosis, Italian type
Condition: not provided

No Assertion Criteria Provided

CA127802

rs_63750579

2 SubmittersRCV000019727 RCV000084562

NM_000484.4(APP):c.2080G>A (p.Asp694Asn)

SNV
Germline

Chr21:25891853

Pathogenic

ABeta amyloidosis, Iowa type
Condition: not provided
Alzheimer disease

Criteria Provided
Multiple Submitters
No Conflicts

CA127804

rs_63749810

4 SubmittersRCV000019729 RCV000084564 RCV000687111

NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)

SNV
Germline

Chr5:38924491

Pathogenic

Amyloidosis, primary localized cutaneous, 1

No Assertion Criteria Provided

CA129035

rs_387906821

1 SubmittersRCV000023143

NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)

SNV
Germline

Chr5:38925240

Likely pathogenic

Amyloidosis, primary localized cutaneous, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129036

rs_387906822

3 SubmittersRCV000023144 RCV000439038

NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)

SNV
Germline

Chr5:38925249

Pathogenic

Amyloidosis, primary localized cutaneous, 1

No Assertion Criteria Provided

CA129037

rs_387906823

1 SubmittersRCV000023145

NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe)

SNV
Germline

Chr5:55910592

Pathogenic

Amyloidosis, primary localized cutaneous, 2

No Assertion Criteria Provided

rs_1561123748

1 SubmittersRCV000023775

NM_004048.4(B2M):c.286G>A (p.Asp96Asn)

SNV
Germline

Chr15:44715641

Pathogenic

Familial visceral amyloidosis, Ostertag type
Non-Hodgkin lymphoma

Criteria Provided
Single Submitter

CA129891

rs_398122820

2 SubmittersRCV000024598 RCV000989305

NM_000371.4(TTR):c.208A>C (p.Ser70Arg)

SNV
Germline

Chr18:31595127

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

CA260564

rs_386134269

1 SubmittersRCV000030571

NM_000371.4(TTR):c.210T>A (p.Ser70Arg)

SNV
Germline

Chr18:31595129

Pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA260565

rs_121918076

4 SubmittersRCV000030572 RCV000517494 RCV002415438

NM_000371.4(TTR):c.336+19G>A

SNV
Germline

Chr18:31595274

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
not specified
Condition: not provided
Charcot-Marie-Tooth disease
Cardiovascular phenotype
TTR-related disorder

Criteria Provided
Conflicting Classifications

CA235185

rs_75517067

12 SubmittersRCV000030573 RCV000244982 RCV000723872 RCV001173305 RCV002321492 RCV004549394

NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)

SNV
Germline

Chr11:47342683

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 4
Condition: not provided
Cardiomyopathy
Amyloidosis, hereditary systemic 1
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA010550

rs_35736435

16 SubmittersRCV000035409 RCV000148661 RCV000242061 RCV000490352 RCV000587761 RCV000776189 RCV000852652 RCV001081053

NM_000371.4(TTR):c.417G>A (p.Thr139=)

SNV
Germline

Chr18:31598648

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiomyopathy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA132602

rs_2276382

12 SubmittersRCV000036377 RCV000248562 RCV000587633 RCV001081376 RCV001170611 RCV001173304

NM_000371.4(TTR):c.190T>C (p.Phe64Leu)

SNV
Germline

Chr18:31593016

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA182025

rs_138065384

10 SubmittersRCV000155021 RCV000474349 RCV000766993 RCV001173294 RCV001798511 RCV002408691

NM_000371.4(TTR):c.354C>T (p.Asn118=)

SNV
Germline

Chr18:31598585

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1
TTR-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179464

rs_11541797

10 SubmittersRCV000152542 RCV000460535 RCV000242314 RCV001081876 RCV004739478 RCV000770557

NM_000371.4(TTR):c.14G>A (p.Arg5His)

SNV
Germline

Chr18:31591916

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease
TTR-related disorder

Criteria Provided
Conflicting Classifications

CA297526

rs_138657343

19 SubmittersRCV000159430 RCV000246043 RCV000474573 RCV000996672 RCV000769524 RCV001173539 RCV004551363

NM_000371.4(TTR):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr18:31592956

Pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA297519

rs_11541790

7 SubmittersRCV000159421 RCV000560691 RCV002381523

NM_000371.4(TTR):c.194C>A (p.Ala65Asp)

SNV
Germline

Chr18:31593020

Pathogenic/Likely pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

CA297540

rs_730881169

3 SubmittersRCV000159436 RCV001228889

NM_000371.4(TTR):c.236C>A (p.Thr79Lys)

SNV
Germline

Chr18:31595155

Pathogenic/Likely pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

CA297521

rs_730881163

2 SubmittersRCV000159426 RCV003514316

NM_000371.4(TTR):c.280G>C (p.Asp94His)

SNV
Germline

Chr18:31595199

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
not specified
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic

Criteria Provided
Conflicting Classifications

CA297523

rs_730881164

11 SubmittersRCV000647355 RCV000725937 RCV001173300 RCV001731489 RCV002433710 RCV002478482

NM_000371.4(TTR):c.301G>A (p.Ala101Thr)

SNV
Germline

Chr18:31595220

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1
Hyperthyroxinemia, dystransthyretinemic
Carpal tunnel syndrome 1

Criteria Provided
Conflicting Classifications

CA206402

rs_730881165

8 SubmittersRCV000193128 RCV000589902 RCV001064362 RCV002433711 RCV002484992

NM_000371.4(TTR):c.355G>A (p.Asp119Asn)

SNV
Germline

Chr18:31598586

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297513

rs_76410435

6 SubmittersRCV000697928 RCV000756859 RCV001173299 RCV002336372

NM_000371.4(TTR):c.407A>C (p.Tyr136Ser)

SNV
Germline

Chr18:31598638

Likely pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

CA297535

rs_730881167

2 SubmittersRCV000223926 RCV003514317

NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)

SNV
Germline

Chr2:178549713

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Amyloidosis, hereditary systemic 1
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA237707

rs_369342933

9 SubmittersRCV000172201 RCV000272895 RCV000378832 RCV000383680 RCV000610659 RCV000852790 RCV001086287 RCV002354433 RCV000286593 RCV000326514 RCV001798611

NM_001032283.3(TMPO):c.565+1696C>T

SNV
Germline

Chr12:98533534

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1T
Loeys-Dietz syndrome 2
Arrhythmogenic right ventricular cardiomyopathy
Amyloidosis
TMPO-related disorder

Criteria Provided
Conflicting Classifications

CA238435

rs_141443652

13 SubmittersRCV000172597 RCV000223911 RCV000578085 RCV000625188 RCV001081032 RCV000852682 RCV003937542

NM_000371.4(TTR):c.384C>T (p.Ala128=)

SNV
Germline

Chr18:31598615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease
Cardiomyopathy
Cardiovascular phenotype
TTR-related disorder

Criteria Provided
Conflicting Classifications

CA245099

rs_143906738

14 SubmittersRCV000178080 RCV000724798 RCV001086449 RCV001173307 RCV001170384 RCV002354458 RCV004553003

NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)

SNV
Germline

Chr12:32877916

Conflicting classifications of pathogenicity

not specified
Ventricular fibrillation
Cardiovascular phenotype
Condition: not provided
Amyloidosis, hereditary systemic 1
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA012595

rs_200069860

10 SubmittersRCV000183732 RCV000208208 RCV000251473 RCV000766568 RCV000852677 RCV001087213 RCV001181080 RCV004742321 RCV004806177

NM_004048.4(B2M):c.67+1G>T

SNV
Germline

Chr15:44711614

Likely pathogenic

Hypoproteinemia, hypercatabolic
Familial visceral amyloidosis, Ostertag type
Hypoproteinemia, hypercatabolic

Criteria Provided
Single Submitter

CA279634

rs_863225287

2 SubmittersRCV000201934 RCV002478720

NM_000258.3(MYL3):c.92G>A (p.Arg31His)

SNV
Germline

Chr3:46863299

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Cardiomyopathy
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA045250

rs_199639940

6 SubmittersRCV000221537 RCV000629148 RCV000771967 RCV000852967 RCV004020625

NM_000371.4(TTR):c.337-3T>C

SNV
Germline

Chr18:31598565

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8928496

rs_774027595

5 SubmittersRCV000214127 RCV000540460 RCV000621559 RCV000786264

NM_000371.4(TTR):c.418G>T (p.Ala140Ser)

SNV
Germline

Chr18:31598649

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10577055

rs_876658108

4 SubmittersRCV000217098 RCV000588714 RCV000809803 RCV002327093

NM_000371.4(TTR):c.327G>T (p.Glu109Asp)

SNV
Germline

Chr18:31595246

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581186

rs_876661395

3 SubmittersRCV000223752 RCV003626611 RCV002444876

NM_021871.4(FGA):c.616C>G (p.Gln206Glu)

SNV
Germline

Chr4:154586813

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
FGA-related disorder

Criteria Provided
Conflicting Classifications

CA3115245

rs_560732073

2 SubmittersRCV000279650 RCV000371491 RCV004735495

NM_021871.4(FGA):c.450G>A (p.Gln150=)

SNV
Germline

Chr4:154587572

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
not specified

Criteria Provided
Conflicting Classifications

CA3115296

rs_368446857

2 SubmittersRCV000283016 RCV000340627 RCV004526668

NM_021871.4(FGA):c.1444G>A (p.Val482Met)

SNV
Germline

Chr4:154585985

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3115086

rs_139146037

3 SubmittersRCV000350523 RCV000388685 RCV002502338 RCV004975472

NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)

SNV
Germline

Chr4:154586012

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3115087

rs_200378626

4 SubmittersRCV000296696 RCV000334967 RCV001702008 RCV002520212

NM_021871.4(FGA):c.244A>C (p.Thr82Pro)

SNV
Germline

Chr4:154588913

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Conflicting Classifications

CA3115349

rs_199554805

1 SubmittersRCV000344051 RCV000404726

NM_021871.4(FGA):c.*50T>G

SNV
Germline

Chr4:154585444

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Conflicting Classifications

CA3114996

rs_369606098

1 SubmittersRCV000266418 RCV000358780

NM_021871.4(FGA):c.1838A>G (p.His613Arg)

SNV
Germline

Chr4:154585591

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3115024

rs_201686865

2 SubmittersRCV000323812 RCV000381748 RCV004021942

NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)

SNV
Germline

Chr4:154585606

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3115027

rs_370873387

2 SubmittersRCV000270905 RCV000328375 RCV002520211

NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)

SNV
Germline

Chr11:116836050

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Familial visceral amyloidosis, Ostertag type
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6289784

rs_140770089

6 SubmittersRCV000328973 RCV001105372 RCV001726099 RCV001193575 RCV002348041

NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)

SNV
Germline

Chr11:116836158

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Familial High Density Lipoprotein Deficiency
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6289804

rs_574061789

4 SubmittersRCV000284267 RCV000337002 RCV001859796 RCV002328802

NM_000039.3(APOA1):c.168G>A (p.Gln56=)

SNV
Germline

Chr11:116837033

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 1
Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 2
Hypoalphalipoproteinemia, primary, 2, intermediate
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6289880

rs_760886281

4 SubmittersRCV000314646 RCV000367038 RCV002480100 RCV002522179 RCV002402017

NM_000039.3(APOA1):c.498C>A (p.Ser166Arg)

SNV
Germline

Chr11:116836114

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6289795

rs_757899657

3 SubmittersRCV000285625 RCV000382429 RCV001859795 RCV002338877

NM_000039.3(APOA1):c.116C>T (p.Ala39Val)

SNV
Germline

Chr11:116837085

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Familial visceral amyloidosis, Ostertag type
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6289893

rs_746314593

3 SubmittersRCV000308803 RCV000398922 RCV002520674 RCV004984796

NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)

SNV
Germline

Chr11:116836328

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Familial visceral amyloidosis, Ostertag type
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA6289832

rs_138407155

5 SubmittersRCV000278412 RCV000396000 RCV001859797 RCV002436142 RCV001269105

NM_000039.3(APOA1):c.28G>A (p.Val10Met)

SNV
Germline

Chr11:116837360

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6289929

rs_750125257

3 SubmittersRCV000268859 RCV000365762 RCV002436143 RCV001850601

NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)

SNV
Germline

Chr12:69350127

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6679730

rs_764263034

4 SubmittersRCV000367718 RCV004984807 RCV002520834 RCV003987504

NM_021871.4(FGA):c.502C>T (p.Arg168Ter)

SNV
Germline

Chr4:154587520

Pathogenic

Condition: not provided
Congenital afibrinogenemia
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Multiple Submitters
No Conflicts

CA3115289

rs_755117226

4 SubmittersRCV001380954 RCV000454272 RCV002502594

NM_000371.4(TTR):c.194C>T (p.Ala65Val)

SNV
Germline

Chr18:31593020

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA402156873

rs_730881169

3 SubmittersRCV000518305 RCV001054408 RCV002420303

NM_000371.4(TTR):c.220G>C (p.Glu74Gln)

SNV
Germline

Chr18:31595139

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA402156925

rs_1555631393

3 SubmittersRCV000518274 RCV001857934 RCV002431479

NM_000371.4(TTR):c.244G>A (p.Glu82Lys)

SNV
Germline

Chr18:31595163

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA402156968

rs_1555631402

4 SubmittersRCV000587406 RCV002456283

NM_000371.4(TTR):c.201-16C>T

SNV
Germline

Chr18:31595104

Conflicting classifications of pathogenicity

Condition: not provided
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

CA297738801

rs_941725460

2 SubmittersRCV000589537 RCV002530903

NM_000371.4(TTR):c.302C>T (p.Ala101Val)

SNV
Germline

Chr18:31595221

Conflicting classifications of pathogenicity

Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA402157096

rs_1555631417

8 SubmittersRCV000586381 RCV001221565 RCV002438524 RCV003486886

NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter)

SNV
Germline

Chr7:23260003

Pathogenic

Amyloidosis, primary localized cutaneous, 3

Criteria Provided
Single Submitter

CA4187446

rs_140352180

2 SubmittersRCV000591352

NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter)

SNV
Germline

Chr7:23260098

Pathogenic

Amyloidosis, primary localized cutaneous, 3

No Assertion Criteria Provided

CA4187474

rs_770211260

1 SubmittersRCV000594391

NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)

SNV
Germline

Chr2:178562860

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Primary dilated cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988949

rs_188323108

7 SubmittersRCV000852804 RCV001085404 RCV000825689 RCV001293123 RCV000643302 RCV004533357

NM_000371.4(TTR):c.206C>G (p.Thr69Ser)

SNV
Germline

Chr18:31595125

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

CA402156905

rs_1555631387

1 SubmittersRCV000647353

NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)

SNV
Germline

Chr12:2664928

Conflicting classifications of pathogenicity

Long QT syndrome
Amyloidosis

Criteria Provided
Conflicting Classifications

rs_758143691

2 SubmittersRCV000689099 RCV000852664

NM_000371.4(TTR):c.116C>A (p.Ala39Asp)

SNV
Germline

Chr18:31592942

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_11541795

3 SubmittersRCV000685149 RCV002331319

NM_000371.4(TTR):c.165G>T (p.Lys55Asn)

SNV
Germline

Chr18:31592991

Pathogenic/Likely pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567945684

2 SubmittersRCV000714132 RCV000699004

NM_000371.4(TTR):c.242A>G (p.Glu81Gly)

SNV
Germline

Chr18:31595161

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1567946170

2 SubmittersRCV000693859 RCV002442455

NM_000371.4(TTR):c.239C>T (p.Thr80Ile)

SNV
Germline

Chr18:31595158

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1254341785

6 SubmittersRCV000700173 RCV000756862 RCV002458280

NM_000371.4(TTR):c.112G>A (p.Asp38Asn)

SNV
Germline

Chr18:31592938

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567945632

2 SubmittersRCV000693117 RCV002325388

NM_000371.4(TTR):c.385G>T (p.Ala129Ser)

SNV
Germline

Chr18:31598616

Conflicting classifications of pathogenicity

Cardiomyopathy
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

rs_267607159

2 SubmittersRCV000770562 RCV001378795

NM_021871.4(FGA):c.922C>T (p.Arg308Ter)

SNV
Germline

Chr4:154586507

Pathogenic/Likely pathogenic

Hypofibrinogenemia
Condition: not provided
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_776817952

3 SubmittersRCV000852248 RCV001784377 RCV002500996

NM_021871.4(FGA):c.532C>T (p.Arg178Ter)

SNV
Germline

Chr4:154586897

Pathogenic/Likely pathogenic

FGA-related disorder
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_140911890

2 SubmittersRCV000779434 RCV002487602

NM_000371.4(TTR):c.186G>T (p.Glu62Asp)

SNV
Germline

Chr18:31593012

Conflicting classifications of pathogenicity

not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1340627860

3 SubmittersRCV000781919 RCV001342557 RCV002406713

NM_000371.4(TTR):c.220G>A (p.Glu74Lys)

SNV
Germline

Chr18:31595139

Pathogenic

Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555631393

3 SubmittersRCV000788781 RCV002249489 RCV002424785

NM_000484.4(APP):c.2125G>A (p.Gly709Ser)

SNV
Germline

Chr21:25891808

Conflicting classifications of pathogenicity

Hereditary cerebral hemorrhage with amyloidosis
Cerebral amyloid angiopathy, APP-related
Alzheimer disease

Criteria Provided
Conflicting Classifications

rs_201269325

2 SubmittersRCV000790931 RCV000790930 RCV001869244

NM_000371.4(TTR):c.128G>A (p.Ser43Asn)

SNV
Germline

Chr18:31592954

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598844112

4 SubmittersRCV000819070 RCV001811504 RCV002381854

NM_000371.4(TTR):c.160A>G (p.Arg54Gly)

SNV
Germline

Chr18:31592986

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1598844184

1 SubmittersRCV000817566

NM_000371.4(TTR):c.173A>C (p.Asp58Ala)

SNV
Germline

Chr18:31592999

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598844213

5 SubmittersRCV000797923 RCV002406755 RCV003117589

NM_000371.4(TTR):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr18:31595148

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1598845111

1 SubmittersRCV000817641

NM_000371.4(TTR):c.69G>A (p.Thr23=)

SNV
Germline

Chr18:31591971

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

rs_752579437

4 SubmittersRCV000828910 RCV002469304 RCV002372375 RCV002538272

NM_000371.4(TTR):c.200G>A (p.Gly67Glu)

SNV
Germline

Chr18:31593026

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918090

3 SubmittersRCV000990082 RCV002416270

NM_000371.4(TTR):c.277A>G (p.Ile93Val)

SNV
Germline

Chr18:31595196

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Hereditary amyloidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598845164

3 SubmittersRCV000990083 RCV001257097

NM_000371.4(TTR):c.221A>G (p.Glu74Gly)

SNV
Germline

Chr18:31595140

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Cardiovascular phenotype
Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1598845097

4 SubmittersRCV001002179 RCV001288933 RCV002416289 RCV003514451

NM_000371.4(TTR):c.161G>C (p.Arg54Thr)

SNV
Germline

Chr18:31592987

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1598844187

1 SubmittersRCV001042832

NM_000371.4(TTR):c.193G>A (p.Ala65Thr)

SNV
Germline

Chr18:31593019

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918078

3 SubmittersRCV001054625 RCV001288932 RCV002409453

NM_000371.4(TTR):c.223C>A (p.Leu75Met)

SNV
Germline

Chr18:31595142

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_2073510448

1 SubmittersRCV001044452

NM_000371.4(TTR):c.252T>G (p.Phe84Leu)

SNV
Germline

Chr18:31595171

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073510805

3 SubmittersRCV001048418 RCV001173295

NM_000371.4(TTR):c.323A>G (p.His108Arg)

SNV
Germline

Chr18:31595242

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073511411

2 SubmittersRCV001058837 RCV002445306

NM_000371.4(TTR):c.326A>T (p.Glu109Val)

SNV
Germline

Chr18:31595245

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2073511444

3 SubmittersRCV001049648 RCV002445262 RCV001288935

NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)

SNV
Germline

Chr11:116837023

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Hypoalphalipoproteinemia, primary, 1
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_199759119

5 SubmittersRCV001106513 RCV001106514 RCV001873509 RCV002411631 RCV003994213

NM_000371.3(TTR):c.-102G>T

SNV
Germline

Chr18:31591801

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_967658213

2 SubmittersRCV001125783 RCV001655682

NM_021871.4(FGA):c.*133G>A

SNV
Germline

Chr4:154585361

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Conflicting Classifications

rs_182736373

1 SubmittersRCV001148383 RCV001148384

NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)

SNV
Germline

Chr4:154585511

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Conflicting Classifications

rs_199571440

1 SubmittersRCV001149941 RCV001149942

NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)

SNV
Germline

Chr4:154585517

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia

Criteria Provided
Conflicting Classifications

rs_771429165

1 SubmittersRCV001149943 RCV001149944

NM_021871.4(FGA):c.1718G>A (p.Arg573His)

SNV
Germline

Chr4:154585711

Conflicting classifications of pathogenicity

Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia

Criteria Provided
Conflicting Classifications

rs_78506343

1 SubmittersRCV001145521 RCV001145522

NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)

SNV
Germline

Chr4:154586357

Conflicting classifications of pathogenicity

Congenital afibrinogenemia
Condition: not provided
Familial visceral amyloidosis, Ostertag type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201105899

3 SubmittersRCV001145727 RCV001772340 RCV001145726 RCV002557120

NM_000371.4(TTR):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr18:31592957

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1415606768

1 SubmittersRCV001220285

NM_000371.4(TTR):c.155T>C (p.Val52Ala)

SNV
Germline

Chr18:31592981

Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073493951

2 SubmittersRCV001215017 RCV002402641

NM_000371.4(TTR):c.200G>T (p.Gly67Val)

SNV
Germline

Chr18:31593026

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918090

3 SubmittersRCV001207386 RCV002418694

NM_000371.4(TTR):c.224T>G (p.Leu75Arg)

SNV
Germline

Chr18:31595143

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_121918079

1 SubmittersRCV001211103

NM_000371.4(TTR):c.258A>T (p.Glu86Asp)

SNV
Germline

Chr18:31595177

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_2073510816

1 SubmittersRCV001204571

NM_000371.4(TTR):c.172G>C (p.Asp58His)

SNV
Germline

Chr18:31592998

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073494217

2 SubmittersRCV001236265 RCV002402741

NM_000371.4(TTR):c.167C>A (p.Ala56Asp)

SNV
Germline

Chr18:31592993

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_2073494094

1 SubmittersRCV001239365

NM_002510.3(GPNMB):c.1330C>T (p.Arg444Ter)

SNV
Germline

Chr7:23270076

Likely pathogenic

Amyloidosis, primary localized cutaneous, 3

Criteria Provided
Single Submitter

rs_547758286

1 SubmittersRCV001263469

NM_000371.4(TTR):c.259G>C (p.Gly87Arg)

SNV
Germline

Chr18:31595178

Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_11541799

3 SubmittersRCV001303075 RCV004793397

NM_000371.4(TTR):c.179C>A (p.Thr60Asn)

SNV
Germline

Chr18:31593005

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_113625622

2 SubmittersRCV001377431 RCV002404893

NM_000371.4(TTR):c.186G>C (p.Glu62Asp)

SNV
Germline

Chr18:31593012

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1340627860

1 SubmittersRCV001379926

NM_000371.4(TTR):c.217G>A (p.Gly73Arg)

SNV
Germline

Chr18:31595136

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_2144409459

1 SubmittersRCV001378793

NM_000371.4(TTR):c.251T>C (p.Phe84Ser)

SNV
Germline

Chr18:31595170

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_121918099

1 SubmittersRCV001378794

NM_000371.4(TTR):c.94C>G (p.Leu32Val)

SNV
Germline

Chr18:31592920

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Amyloidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144406525

3 SubmittersRCV001389002 RCV002377579 RCV003447595

NM_000371.4(TTR):c.182G>T (p.Trp61Leu)

SNV
Germline

Chr18:31593008

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1567945702

1 SubmittersRCV001389003

NM_000371.4(TTR):c.325G>A (p.Glu109Lys)

SNV
Germline

Chr18:31595244

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918082

7 SubmittersRCV001386305 RCV001530146 RCV002322365

NM_000371.4(TTR):c.381T>G (p.Ile127Met)

SNV
Germline

Chr18:31598612

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_751430411

2 SubmittersRCV001386306 RCV002357290

NM_000371.4(TTR):c.365C>G (p.Pro122Arg)

SNV
Germline

Chr18:31598596

Conflicting classifications of pathogenicity

Condition: not provided
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_11541793

3 SubmittersRCV001508824 RCV003626673 RCV004681217

NM_000371.4(TTR):c.214T>C (p.Ser72Pro)

SNV
Germline/somatic

Chr18:31595133

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144409444

2 SubmittersRCV001534617 RCV002424971

NM_000371.4(TTR):c.-15C>T

SNV
Germline

Chr18:31591888

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Amyloidosis, hereditary systemic 1

Criteria Provided
Conflicting Classifications

rs_746692906

3 SubmittersRCV001615018 RCV002405267 RCV002501973

NM_000371.4(TTR):c.70-16T>C

SNV
Germline

Chr18:31592880

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_759512847

7 SubmittersRCV001716255 RCV001698892 RCV002073275 RCV002360998

NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)

SNV
Germline

Chr18:31595212

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_958191819

4 SubmittersRCV001718568 RCV002440842 RCV003329411

NM_021871.4(FGA):c.364+1G>A

SNV
Unknown

Chr4:154588792

Likely pathogenic

Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type

Criteria Provided
Single Submitter

rs_778779380

1 SubmittersRCV002506823

NM_000371.4(TTR):c.425T>C (p.Val142Ala)

SNV
Germline

Chr18:31598656

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144414426

2 SubmittersRCV001808154

NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu)

SNV
Germline

Chr13:48261223

Likely pathogenic

ABri amyloidosis

Criteria Provided
Single Submitter

rs_2137997888

1 SubmittersRCV001809239

NM_004048.4(B2M):c.278C>A (p.Thr93Asn)

SNV
Germline

Chr15:44715633

Conflicting classifications of pathogenicity

Hypoproteinemia, hypercatabolic
Hypoproteinemia, hypercatabolic
Familial visceral amyloidosis, Ostertag type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778103494

3 SubmittersRCV001909894 RCV002490246 RCV004042781

NM_000371.4(TTR):c.311T>C (p.Ile104Thr)

SNV
Germline

Chr18:31595230

Pathogenic/Likely pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918072

2 SubmittersRCV001999713 RCV002324398

NM_000371.4(TTR):c.206C>T (p.Thr69Ile)

SNV
Germline

Chr18:31595125

Pathogenic

Amyloidosis, hereditary systemic 1
TTR-related disorder

Criteria Provided
Single Submitter

rs_1555631387

2 SubmittersRCV001942058 RCV004552134

NM_000371.4(TTR):c.328C>G (p.His110Asp)

SNV
Germline

Chr18:31595247

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_121918074

2 SubmittersRCV002049135 RCV002324505

NM_000371.4(TTR):c.114T>A (p.Asp38Glu)

SNV
Germline

Chr18:31592940

Pathogenic

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_779619795

2 SubmittersRCV001904544 RCV003299056

NM_000371.4(TTR):c.173A>T (p.Asp58Val)

SNV
Germline

Chr18:31592999

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1598844213

1 SubmittersRCV001975098

NM_000371.4(TTR):c.89G>A (p.Cys30Tyr)

SNV
Germline

Chr18:31592915

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_2144406508

1 SubmittersRCV001986200

NM_000371.4(TTR):c.221A>C (p.Glu74Ala)

SNV
Germline

Chr18:31595140

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

rs_1598845097

1 SubmittersRCV002024760

NM_000371.4(TTR):c.148G>T (p.Val50Leu)

SNV
Germline

Chr18:31592974

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003050501

NM_000371.4(TTR):c.165G>C (p.Lys55Asn)

SNV
Germline

Chr18:31592991

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064510

NM_000371.4(TTR):c.377C>A (p.Thr126Asn)

SNV
Germline

Chr18:31598608

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064512

NM_000371.4(TTR):c.119T>C (p.Val40Ala)

SNV
Germline

Chr18:31592945

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003084912

NM_000371.4(TTR):c.208A>G (p.Ser70Gly)

SNV
Germline

Chr18:31595127

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003100652

NM_000371.4(TTR):c.235A>G (p.Thr79Ala)

SNV
Germline

Chr18:31595154

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003100653

NM_000371.4(TTR):c.268A>C (p.Lys90Gln)

SNV
Germline

Chr18:31595187

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003084913

NM_000371.4(TTR):c.251T>A (p.Phe84Tyr)

SNV
Germline

Chr18:31595170

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV002839096

NM_000371.4(TTR):c.350C>A (p.Ala117Asp)

SNV
Germline

Chr18:31598581

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV002923158

NM_000484.4(APP):c.1969G>A (p.Gly657Arg)

SNV
Germline

Chr21:25897668

Conflicting classifications of pathogenicity

Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002926844 RCV003994471

NM_000371.4(TTR):c.163A>G (p.Lys55Glu)

SNV
Germline

Chr18:31592989

Conflicting classifications of pathogenicity

Amyloidosis, hereditary systemic 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002904760 RCV003358018

NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)

SNV
Germline

Chr11:116837075

Likely pathogenic

Familial visceral amyloidosis, Ostertag type

Criteria Provided
Single Submitter

1 SubmittersRCV003314532

NM_002510.3(GPNMB):c.1118-2A>G

SNV
Germline

Chr7:23267884

Pathogenic

Amyloidosis, primary localized cutaneous, 3

Criteria Provided
Single Submitter

1 SubmittersRCV003325298

NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)

SNV
Germline

Chr18:31592938

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003335804

NM_000371.4(TTR):c.311T>A (p.Ile104Asn)

SNV
Germline

Chr18:31595230

Pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003516383

NM_000371.4(TTR):c.326A>G (p.Glu109Gly)

SNV
Germline

Chr18:31595245

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003515823

NM_000371.4(TTR):c.268A>G (p.Lys90Glu)

SNV
Germline

Chr18:31595187

Likely pathogenic

Amyloidosis, hereditary systemic 1

Criteria Provided
Single Submitter

1 SubmittersRCV003627531

NM_000371.4(TTR):c.236C>T (p.Thr79Ile)

SNV
Germline

Chr18:31595155

Likely pathogenic

Amyloidosis

Criteria Provided
Single Submitter

1 SubmittersRCV004775629

NM_002510.3(GPNMB):c.393T>G (p.Tyr131Ter)

SNV
Germline

Chr7:23256917

Pathogenic

Amyloidosis, primary localized cutaneous, 3

Criteria Provided
Single Submitter

1 SubmittersRCV004797292