Total 78 pathogenic variants reported for Amyloidosis 
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.424G>A (p.Val142Ile) SNV
Germline		 Chr18:31598655 Pathogenic Familial amyloid neuropathy
Amyloid Cardiomyopathy, Transthyretin-related
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Anemia
Bone marrow hypocellularity
Pancytopenia
ATTRV122I amyloidosis
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia, dystransthyretinemic
Familial amyloid neuropathy
Tip-toe gait
TTR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214382 rs_76992529

42 SubmittersRCV000014368RCV000030575RCV000078674RCV000211747RCV000243161RCV000735409RCV000853387RCV001173290RCV002476965RCV003319166RCV003335038
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
Cardiomyopathy
Familial amyloid neuropathy
Charcot-Marie-Tooth disease
Hyperthyroxinemia, dystransthyretinemic		 Criteria Provided
Conflicting Classifications
 CA123101 rs_28933981

14 SubmittersRCV000014376RCV000036376RCV000618448RCV000714134RCV001170385RCV000990084RCV001173303RCV003993656
NM_000371.4(TTR):c.379A>G (p.Ile127Val) SNV
Germline		 Chr18:31598610 Pathogenic/Likely pathogenic Familial amyloid neuropathy
not specified
Cardiovascular phenotype
Condition: not provided
Carpal tunnel syndrome 1
Familial amyloid neuropathy
Hyperthyroxinemia, dystransthyretinemic
Hereditary amyloidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256843 rs_121918089

12 SubmittersRCV000014392RCV000506089RCV002354161RCV001090344RCV002504784RCV003458163
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 SubmittersRCV000015452RCV001509432
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 SubmittersRCV000015454RCV003556025
NM_021871.4(FGA):c.104G>A (p.Arg35His) SNV
Germline		 Chr4:154589513 Pathogenic Dysfibrinogenemia
Abnormal bleeding
Hypofibrinogenemia
Condition: not provided
Familial dysfibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
FGA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130224 rs_121909607

9 SubmittersRCV000030941RCV000851971RCV000851581RCV001509236RCV002228034RCV002476987RCV004532379
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 SubmittersRCV000017869RCV001753419RCV004528118
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) SNV
Germline		 Chr4:154585795 Pathogenic Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126494 rs_121909612

3 SubmittersRCV000017871RCV002490381RCV003480033
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) SNV
Germline		 Chr4:154585712 Likely pathogenic FIBRINOGEN DUSART
Deep venous thrombosis
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126498 rs_121909613

3 SubmittersRCV000017872RCV002222001RCV002490382
NM_021871.4(FGA):c.510+1G>T SNV
Germline		 Chr4:154587511 Pathogenic Congenital afibrinogenemia
Familial hypodysfibrinogenemia
Hypofibrinogenemia
Condition: not provided
Congenital afibrinogenemia
Familial dysfibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126508 rs_146387238

4 SubmittersRCV000017877RCV000030942RCV000851811RCV002513088RCV002496394
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) SNV
Germline		 Chr4:154586438 Conflicting classifications of pathogenicity Venous thromboembolism, susceptibility to
Congenital afibrinogenemia
not specified
Familial visceral amyloidosis, Ostertag type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA126515 rs_6050

7 SubmittersRCV000017882RCV000338448RCV000246757RCV000405212RCV001509235
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) SNV
Germline		 Chr11:116837053 Pathogenic Familial amyloid polyneuropathy, Iowa type
Hypoalphalipoproteinemia, primary, 2
Hypoalphalipoproteinemia, primary, 2, intermediate
Familial visceral amyloidosis, Ostertag type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127561 rs_28931574

3 SubmittersRCV000019506RCV002504810RCV003556050
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 SubmittersRCV000019713RCV001386879RCV002272024
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV
Germline		 Chr21:25891858 Pathogenic Alzheimer disease type 1
ABetaA21G amyloidosis
Alzheimer disease
Condition: not provided		 No Assertion Criteria Provided
 CA127794 rs_63750671

3 SubmittersRCV000019718RCV000019717RCV000020306RCV000084561
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV
Germline		 Chr21:25891855 Pathogenic Alzheimer disease type 1
ABeta amyloidosis, Arctic type
Alzheimer disease
Condition: not provided		 No Assertion Criteria Provided
 CA127801 rs_63751039

3 SubmittersRCV000019725RCV000019726RCV000020307RCV000084563
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 SubmittersRCV000019727RCV000084562
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 SubmittersRCV000019729RCV000084564RCV000687111
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
Single Submitter
 CA129036 rs_387906822

2 SubmittersRCV000023144RCV000439038
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 SubmittersRCV000024598RCV000989305
NM_001032283.3(TMPO):c.565+1696C>T SNV
Germline		 Chr12:98533534 Conflicting classifications of pathogenicity Condition: not provided
not specified
Primary dilated cardiomyopathy
Amyloidosis
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 1T
Loeys-Dietz syndrome 2
TMPO-related disorder		 Criteria Provided
Conflicting Classifications
 CA238435 rs_141443652

12 SubmittersRCV000172597RCV000223911RCV000578085RCV000852682RCV000625188RCV001081032RCV003937542
NM_004048.4(B2M):c.67+1G>T SNV
Germline		 Chr15:44711614 Likely pathogenic Hypoproteinemia, hypercatabolic
Hypoproteinemia, hypercatabolic
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Single Submitter
 CA279634 rs_863225287

2 SubmittersRCV000201934RCV002478720
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) SNV
Germline		 Chr4:154586813 Conflicting classifications of pathogenicity Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Conflicting Classifications
 CA3115245 rs_560732073

1 SubmittersRCV000279650RCV000371491
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 SubmittersRCV000283016RCV000340627RCV004526668
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 SubmittersRCV000296696RCV000334967RCV001702008RCV002520212
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 SubmittersRCV000344051RCV000404726
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 SubmittersRCV000266418RCV000358780
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 SubmittersRCV000323812RCV000381748RCV004021942
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 SubmittersRCV000270905RCV000328375RCV002520211
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
Cardiovascular phenotype
not specified		 Criteria Provided
Conflicting Classifications
 CA6289784 rs_140770089

6 SubmittersRCV000328973RCV001105372RCV001726099RCV002348041RCV001193575
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 SubmittersRCV000284267RCV000337002RCV001859796RCV002328802
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, intermediate
Hypoalphalipoproteinemia, primary, 2
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA6289880 rs_760886281

4 SubmittersRCV000314646RCV000367038RCV002480100RCV002522179RCV002402017
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 SubmittersRCV000285625RCV000382429RCV001859795RCV002338877
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
Cardiovascular phenotype
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6289832 rs_138407155

4 SubmittersRCV000278412RCV000396000RCV002436142RCV001269105RCV001859797
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 SubmittersRCV000268859RCV000365762RCV002436143RCV001850601
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter) SNV
Germline		 Chr12:69350127 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6679730 rs_764263034

3 SubmittersRCV000367718RCV002520834RCV003987504
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) SNV
Germline		 Chr4:154587520 Pathogenic Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial dysfibrinogenemia
Congenital afibrinogenemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3115289 rs_755117226

3 SubmittersRCV000454272RCV002502594RCV001380954
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_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 SubmittersRCV000689099RCV000852664
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) SNV
Germline		 Chr4:154586507 Pathogenic/Likely pathogenic Hypofibrinogenemia
Condition: not provided
Familial dysfibrinogenemia
Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_776817952

3 SubmittersRCV000852248RCV001784377RCV002500996
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 SubmittersRCV000779434RCV002487602
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 SubmittersRCV000790931RCV000790930RCV001869244
NM_000371.4(TTR):c.277A>G (p.Ile93Val) SNV
Germline		 Chr18:31595196 Pathogenic/Likely pathogenic Familial amyloid neuropathy
Hereditary amyloidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598845164

3 SubmittersRCV000990083RCV001257097
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

4 SubmittersRCV001106513RCV001106514RCV001873509RCV002411631RCV003994213
NM_021871.4(FGA):c.*133G>A SNV
Germline		 Chr4:154585361 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia		 Criteria Provided
Conflicting Classifications
 rs_182736373

1 SubmittersRCV001148384RCV001148383
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 SubmittersRCV001149941RCV001149942
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 SubmittersRCV001149943RCV001149944
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 SubmittersRCV001145521RCV001145522
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) SNV
Germline		 Chr4:154586357 Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
Congenital afibrinogenemia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201105899

3 SubmittersRCV001145726RCV001145727RCV001772340RCV002557120
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.94C>G (p.Leu32Val) SNV
Germline		 Chr18:31592920 Pathogenic Familial amyloid neuropathy
Cardiovascular phenotype
Amyloidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2144406525

3 SubmittersRCV001389002RCV002377579RCV003447595
NM_021871.4(FGA):c.364+1G>A SNV
Unknown		 Chr4:154588792 Likely pathogenic Congenital afibrinogenemia
Familial visceral amyloidosis, Ostertag type
Familial dysfibrinogenemia		 Criteria Provided
Single Submitter
 rs_778779380

1 SubmittersRCV002506823
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
Familial visceral amyloidosis, Ostertag type
Hypoproteinemia, hypercatabolic
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_778103494

3 SubmittersRCV001909894RCV002490246RCV004042781
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 SubmittersRCV002926844RCV003994471
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