Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	SNV Germline	Chr12:123718692	Pathogenic	Cutis laxa with osteodystrophy Condition: not provided Alpha-1-antitrypsin deficiency ALG9 congenital disorder of glycosylation Cutis laxa	Criteria Provided Multiple Submitters No Conflicts	CA223052	rs_80356750	5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	SNV Germline	Chr14:94381049	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency PI F not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA325638	rs_28929470	13 SubmittersRCV000148879 RCV000019561 RCV000151833 RCV000622899 RCV000727618
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)	SNV Germline	Chr14:94378547	Conflicting classifications of pathogenicity	PI CHRISTCHURCH Alpha-1-antitrypsin deficiency Condition: not provided SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA127650	rs_121912712	7 SubmittersRCV000019564 RCV000201867 RCV000597262 RCV003964806
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SNV Germline	Chr14:94378528	Pathogenic/Likely pathogenic	PI M(HEERLEN) Alpha-1-antitrypsin deficiency SERPINA1-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127662	rs_199422209	14 SubmittersRCV000019565 RCV000409001 RCV003944831 RCV002336088 RCV000727230
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)	SNV Germline	Chr14:94382966	Pathogenic; other	Alpha-1-antitrypsin deficiency PI M(MINERAL SPRINGS)	No Assertion Criteria Provided	CA127674	rs_28931568	3 SubmittersRCV000201855 RCV000019566
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SNV Germline	Chr14:94378610	Pathogenic; risk factor	PI Z(TUN) PI Z PI Z(AUGSBURG) Alpha-1-antitrypsin deficiency Condition: not provided FRAXE Inborn genetic diseases Chronic obstructive pulmonary disease COPD, severe early onset Alpha-1-antitrypsin deficiency Neurodevelopmental disorder See cases Susceptibility to severe coronavirus disease (COVID-19) SERPINA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA127676	rs_28929474	42 SubmittersRCV000019595 RCV000019567 RCV000019594 RCV000148877 RCV000255454 RCV000194811 RCV000623762 RCV001195107 RCV002054450 RCV002276567 RCV002251912 RCV002466247 RCV003415721
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV Germline	Chr14:94380925	Pathogenic/Pathogenic, low penetrance; other	PI S Alpha-1-antitrypsin deficiency Condition: not provided Chronic obstructive pulmonary disease Alpha-1-antitrypsin deficiency Cystic fibrosis not specified Inborn genetic diseases Susceptibility to severe coronavirus disease (COVID-19) SERPINA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA127679	rs_17580	32 SubmittersRCV000019569 RCV000148878 RCV000177031 RCV000762932 RCV000991136 RCV001195102 RCV002371777 RCV002466248 RCV003415722
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	SNV Germline	Chr14:94383044	Pathogenic/Likely pathogenic	PI M(PROCIDA) Alpha-1-antitrypsin deficiency Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA127686	rs_28931569	11 SubmittersRCV000019571 RCV000201848 RCV000729804 RCV004584332
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)	SNV Germline	Chr14:94382724	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7327479	rs_112030253	6 SubmittersRCV000512621 RCV000597384
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	SNV Germline	Chr14:94383051	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency PI I Condition: not provided SERPINA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA325650	rs_28931570	14 SubmittersRCV000148875 RCV000019575 RCV000431149 RCV003390693
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	SNV Germline	Chr14:94380949	Pathogenic/Likely pathogenic; other	PI P(LOWELL) PI Q0(CARDIFF) PI P(DUARTE) PI NULL(CARDIFF) Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA127689	rs_121912714	13 SubmittersRCV000019576 RCV000019578 RCV000019605 RCV000019577 RCV000398063 RCV000148876 RCV003415723
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	SNV Germline	Chr14:94381067	Pathogenic/Likely pathogenic	PI NULL(BELLINGHAM) PI Q0(BELLINGHAM) Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127693	rs_199422211	7 SubmittersRCV000019581 RCV000019582 RCV000169162 RCV001528835
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)	SNV Germline	Chr14:94378561	Pathogenic	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided	CA127707	rs_121912713	3 SubmittersRCV000019591 RCV000201860
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)	SNV Germline	Chr14:94382823	Pathogenic; other	Alpha-1-antitrypsin deficiency PI Q0(NEWPORT) PI NULL(DEVON) PI Q0(DEVON) PI NULL(NEWPORT)	No Assertion Criteria Provided	CA127734	rs_11558261	2 SubmittersRCV000512622 RCV000019600 RCV000019597 RCV000019598 RCV000019599
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)	SNV Germline	Chr14:94382891	Pathogenic; other	Alpha-1-antitrypsin deficiency PI Q0(LUDWIGSHAFEN) PI NULL(LUDWIGSHAFEN)	No Assertion Criteria Provided	CA127736	rs_28931572	3 SubmittersRCV000201851 RCV000019602 RCV000019601
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)	SNV Germline	Chr14:94383008	Pathogenic	PI S(IIYAMA) Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter	CA127738	rs_55819880	4 SubmittersRCV000019608 RCV000169508
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)	SNV Germline	Chr14:94381043	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA274265	rs_764220898	3 SubmittersRCV000169405
NM_000295.5(SERPINA1):c.646+1G>T	SNV Germline	Chr14:94382591	Pathogenic/Likely pathogenic	PI NULL(WEST) Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274333	rs_751235320	6 SubmittersRCV000019606 RCV000169461 RCV000593270
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	SNV Germline	Chr14:94382686	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA274042	rs_199422210	4 SubmittersRCV000169206
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	SNV Germline	Chr14:94378529	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA350451	rs_61761869	2 SubmittersRCV000206411 RCV000729874
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)	SNV Germline	Chr14:94378612	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA350011	rs_864622046	2 SubmittersRCV000205912 RCV000731082
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	SNV Germline	Chr14:94382700	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA348651	rs_864622051	4 SubmittersRCV000204423
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)	SNV Germline	Chr14:94379553	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327337	rs_139964603	3 SubmittersRCV000394406 RCV001085209
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His)	SNV Germline	Chr14:94381048	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327416	rs_544632177	2 SubmittersRCV000298533 RCV002059215
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)	SNV Germline	Chr14:94383195	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided Inborn genetic diseases SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327563	rs_147283849	6 SubmittersRCV000377547 RCV000364791 RCV003165759 RCV003910009
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)	SNV Germline	Chr14:94379607	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327349	rs_141620200	7 SubmittersRCV000366637 RCV000766819 RCV001081168 RCV003401263
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	SNV Germline	Chr14:94378529	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327256	rs_61761869	12 SubmittersRCV000336993 RCV000443069 RCV003409418
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)	SNV Germline	Chr14:94379605	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327348	rs_138611390	4 SubmittersRCV000372916 RCV001088917 RCV002374482 RCV003930165
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)	SNV Germline	Chr14:94382686	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327472	rs_199422210	5 SubmittersRCV000388199 RCV001116057 RCV002348028 RCV003967809
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)	SNV Germline	Chr14:94383067	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7327535	rs_150784949	4 SubmittersRCV000322898 RCV000597535 RCV003338572
NM_000295.5(SERPINA1):c.-7A>G	SNV Germline	Chr14:94388562	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA10641358	rs_559054925	4 SubmittersRCV000329132 RCV000594715 RCV003972344
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)	SNV Germline	Chr14:94378611	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7327281	rs_201774333	3 SubmittersRCV000285849 RCV002450873
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)	SNV Germline	Chr14:94381087	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7327424	rs_746197812	4 SubmittersRCV000314851 RCV000733122
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)	SNV Germline	Chr14:94383232	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327572	rs_200936638	2 SubmittersRCV000264721
NM_000295.5(SERPINA1):c.*1C>T	SNV Germline	Chr14:94378448	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327243	rs_72547410	2 SubmittersRCV000316220 RCV003920318
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)	SNV Germline	Chr14:94379562	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7327340	rs_150455534	3 SubmittersRCV000407407 RCV003298374
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)	SNV Germline	Chr14:94382651	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327466	rs_368433503	2 SubmittersRCV000369653
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)	SNV Germline	Chr14:94383027	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7327525	rs_11575873	3 SubmittersRCV000298466 RCV000734670
NM_000295.5(SERPINA1):c.-10T>C	SNV Germline	Chr14:94388565	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency not specified	Criteria Provided Conflicting Classifications	CA10646638	rs_11558258	3 SubmittersRCV000383822 RCV000597167
NM_000295.5(SERPINA1):c.646+2T>C	SNV Germline	Chr14:94382590	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7327455	rs_112661131	3 SubmittersRCV000411387
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)	SNV Unknown	Chr14:94383052	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter	CA7327531	rs_762321137	1 SubmittersRCV000409474
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)	SNV Unknown	Chr14:94383217	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter	CA16041710	rs_370038282	1 SubmittersRCV000411794
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val)	SNV Unknown	Chr14:94383237	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter	CA16041711	rs_1057516555	1 SubmittersRCV000411735
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SNV Germline	Chr14:94378480	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter	CA390847337	rs_1488213352	1 SubmittersRCV000508902
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)	SNV Germline	Chr14:94378633	Likely pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided	CA390847841	rs_1555367891	1 SubmittersRCV000512630
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys)	SNV Germline	Chr14:94382592	Likely pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided	CA7327456	rs_756773408	1 SubmittersRCV000512625
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)	SNV Germline	Chr14:94383011	Pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided	CA390850516	rs_1555369172	1 SubmittersRCV000512628
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)	SNV Germline	Chr14:94383069	Likely pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided	CA390850636	rs_1457464431	1 SubmittersRCV000512624
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)	SNV Germline	Chr14:94382724	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327480	rs_112030253	5 SubmittersRCV000598234 RCV001084531 RCV003979953
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=)	SNV Germline	Chr14:94382902	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327513	rs_753313462	2 SubmittersRCV000735034 RCV001078757
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=)	SNV Germline	Chr14:94382914	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA487841253	rs_1555369128	2 SubmittersRCV000596999 RCV001410329
NM_000295.5(SERPINA1):c.918-4A>G	SNV Germline	Chr14:94379615	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327353	rs_367822021	3 SubmittersRCV000593680 RCV001464971 RCV003905530
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)	SNV Germline	Chr14:94378572	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327266	rs_148362959	3 SubmittersRCV000594720 RCV001447395 RCV003962683
NM_000295.5(SERPINA1):c.1065+10C>T	SNV Germline	Chr14:94379454	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327323	rs_56388024	3 SubmittersRCV000591160 RCV001079262 RCV003962685
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)	SNV Germline	Chr14:94382692	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7327475	rs_113813309	3 SubmittersRCV000592006 RCV001398304 RCV002350426
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn)	SNV Germline	Chr14:94379603	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA7327347	rs_773222881	2 SubmittersRCV000593655 RCV001088192
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=)	SNV Germline	Chr14:94383187	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7327562	rs_143920236	3 SubmittersRCV000592418 RCV001079054 RCV003160048
NM_000295.5(SERPINA1):c.54G>A (p.Leu18=)	SNV Germline	Chr14:94383184	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications	CA487841420	rs_745679666	2 SubmittersRCV000594802 RCV003638684
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln)	SNV Germline	Chr14:94380909	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications	CA7327386	rs_141095970	3 SubmittersRCV000594222 RCV002532643 RCV003392441
NM_000295.5(SERPINA1):c.1066-1G>T	SNV Unknown	Chr14:94378641	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_1555367897	1 SubmittersRCV000667719
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)	SNV Unknown	Chr14:94381134	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_1445192595	1 SubmittersRCV000666593
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)	SNV Germline	Chr14:94382994	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications		rs_113817720	4 SubmittersRCV000728194 RCV002485855 RCV003918187
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)	SNV Germline	Chr14:94381070	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency SERPINA1-related disorder	Criteria Provided Conflicting Classifications		rs_72552401	3 SubmittersRCV000728488 RCV001088314 RCV003953299
NM_000295.5(SERPINA1):c.978C>T (p.Val326=)	SNV Germline	Chr14:94379551	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications		rs_752267053	2 SubmittersRCV000728634 RCV003768179
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)	SNV Germline	Chr14:94380889	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_550592374	4 SubmittersRCV000729755 RCV001083682 RCV002369991
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=)	SNV Germline	Chr14:94382788	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications		rs_146596574	2 SubmittersRCV000729855 RCV001414765
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)	SNV Germline	Chr14:94378500	Conflicting classifications of pathogenicity	Condition: not provided Alpha-1-antitrypsin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_766128806	4 SubmittersRCV000731004 RCV001087977 RCV002343598
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	SNV Germline	Chr14:94380955	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_1566753480	1 SubmittersRCV000768545
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	SNV Germline	Chr14:94382994	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_113817720	1 SubmittersRCV000768537
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)	SNV Germline	Chr14:94379571	Likely pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided		rs_746155701	1 SubmittersRCV000853412
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)	SNV Germline	Chr14:94378637	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications		rs_373630097	2 SubmittersRCV000870248
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter)	SNV Germline	Chr14:94380947	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_760917668	1 SubmittersRCV001065386
NM_000295.5(SERPINA1):c.*80C>T	SNV Germline	Chr14:94378369	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1243163	2 SubmittersRCV001117402 RCV001655677
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)	SNV Germline	Chr14:94378602	Conflicting classifications of pathogenicity	Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications		rs_1378794678	2 SubmittersRCV001119005
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)	SNV Germline	Chr14:94378528	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_199422209	3 SubmittersRCV001377892
NM_000295.5(SERPINA1):c.1096G>C (p.Glu366Gln)	SNV Germline	Chr14:94378610	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter		rs_28929474	1 SubmittersRCV001984018
NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter)	SNV Unknown	Chr14:94381115	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002310455
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)	SNV Germline	Chr14:94379499	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha-1-antitrypsin deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002383722 RCV003095047
NM_000295.5(SERPINA1):c.-5+1G>A	SNV Germline	Chr14:94388559	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003064236
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)	SNV Germline	Chr14:94380935	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002598958
NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly)	SNV Germline	Chr14:94378609	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002786692
NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)	SNV Germline	Chr14:94382835	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002810077
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)	SNV Germline	Chr14:94380941	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002947641
NM_000295.5(SERPINA1):c.647-2A>C	SNV Unknown	Chr14:94381143	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003472651
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)	SNV Unknown	Chr14:94383083	Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003472653
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)	SNV Germline	Chr14:94382763	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472658
NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)	SNV Germline	Chr14:94382670	Pathogenic	Alpha-1-antitrypsin deficiency	No Assertion Criteria Provided			1 SubmittersRCV003486404
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)	SNV Germline	Chr14:94382895	Pathogenic	Alpha-1-antitrypsin deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003829321

NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr12:123718692

Pathogenic

Cutis laxa with osteodystrophy
Condition: not provided
Alpha-1-antitrypsin deficiency
ALG9 congenital disorder of glycosylation
Cutis laxa

Criteria Provided
Multiple Submitters
No Conflicts

CA223052

rs_80356750

5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513

NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)

SNV
Germline

Chr14:94381049

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
PI F
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325638

rs_28929470

13 SubmittersRCV000148879 RCV000019561 RCV000151833 RCV000622899 RCV000727618

NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)

SNV
Germline

Chr14:94378547

Conflicting classifications of pathogenicity

PI CHRISTCHURCH
Alpha-1-antitrypsin deficiency
Condition: not provided
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA127650

rs_121912712

7 SubmittersRCV000019564 RCV000201867 RCV000597262 RCV003964806

NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)

SNV
Germline

Chr14:94378528

Pathogenic/Likely pathogenic

PI M(HEERLEN)
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127662

rs_199422209

14 SubmittersRCV000019565 RCV000409001 RCV003944831 RCV002336088 RCV000727230

NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)

SNV
Germline

Chr14:94382966

Pathogenic; other

Alpha-1-antitrypsin deficiency
PI M(MINERAL SPRINGS)

No Assertion Criteria Provided

CA127674

rs_28931568

3 SubmittersRCV000201855 RCV000019566

NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)

SNV
Germline

Chr14:94378610

Pathogenic; risk factor

PI Z(TUN)
PI Z
PI Z(AUGSBURG)
Alpha-1-antitrypsin deficiency
Condition: not provided
FRAXE
Inborn genetic diseases
Chronic obstructive pulmonary disease
COPD, severe early onset
Alpha-1-antitrypsin deficiency
Neurodevelopmental disorder
See cases
Susceptibility to severe coronavirus disease (COVID-19)
SERPINA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127676

rs_28929474

42 SubmittersRCV000019595 RCV000019567 RCV000019594 RCV000148877 RCV000255454 RCV000194811 RCV000623762 RCV001195107 RCV002054450 RCV002276567 RCV002251912 RCV002466247 RCV003415721

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

SNV
Germline

Chr14:94380925

Pathogenic/Pathogenic, low penetrance; other

PI S
Alpha-1-antitrypsin deficiency
Condition: not provided
Chronic obstructive pulmonary disease
Alpha-1-antitrypsin deficiency
Cystic fibrosis
not specified
Inborn genetic diseases
Susceptibility to severe coronavirus disease (COVID-19)
SERPINA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127679

rs_17580

32 SubmittersRCV000019569 RCV000148878 RCV000177031 RCV000762932 RCV000991136 RCV001195102 RCV002371777 RCV002466248 RCV003415722

NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)

SNV
Germline

Chr14:94383044

Pathogenic/Likely pathogenic

PI M(PROCIDA)
Alpha-1-antitrypsin deficiency
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA127686

rs_28931569

11 SubmittersRCV000019571 RCV000201848 RCV000729804 RCV004584332

NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)

SNV
Germline

Chr14:94382724

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7327479

rs_112030253

6 SubmittersRCV000512621 RCV000597384

NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)

SNV
Germline

Chr14:94383051

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency
PI I
Condition: not provided
SERPINA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA325650

rs_28931570

14 SubmittersRCV000148875 RCV000019575 RCV000431149 RCV003390693

NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)

SNV
Germline

Chr14:94380949

Pathogenic/Likely pathogenic; other

PI P(LOWELL)
PI Q0(CARDIFF)
PI P(DUARTE)
PI NULL(CARDIFF)
Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127689

rs_121912714

13 SubmittersRCV000019576 RCV000019578 RCV000019605 RCV000019577 RCV000398063 RCV000148876 RCV003415723

NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)

SNV
Germline

Chr14:94381067

Pathogenic/Likely pathogenic

PI NULL(BELLINGHAM)
PI Q0(BELLINGHAM)
Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127693

rs_199422211

7 SubmittersRCV000019581 RCV000019582 RCV000169162 RCV001528835

NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)

SNV
Germline

Chr14:94378561

Pathogenic

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

CA127707

rs_121912713

3 SubmittersRCV000019591 RCV000201860

NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)

SNV
Germline

Chr14:94382823

Pathogenic; other

Alpha-1-antitrypsin deficiency
PI Q0(NEWPORT)
PI NULL(DEVON)
PI Q0(DEVON)
PI NULL(NEWPORT)

No Assertion Criteria Provided

CA127734

rs_11558261

2 SubmittersRCV000512622 RCV000019600 RCV000019597 RCV000019598 RCV000019599

NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)

SNV
Germline

Chr14:94382891

Pathogenic; other

Alpha-1-antitrypsin deficiency
PI Q0(LUDWIGSHAFEN)
PI NULL(LUDWIGSHAFEN)

No Assertion Criteria Provided

CA127736

rs_28931572

3 SubmittersRCV000201851 RCV000019602 RCV000019601

NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)

SNV
Germline

Chr14:94383008

Pathogenic

PI S(IIYAMA)
Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

CA127738

rs_55819880

4 SubmittersRCV000019608 RCV000169508

NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)

SNV
Germline

Chr14:94381043

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA274265

rs_764220898

3 SubmittersRCV000169405

NM_000295.5(SERPINA1):c.646+1G>T

SNV
Germline

Chr14:94382591

Pathogenic/Likely pathogenic

PI NULL(WEST)
Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274333

rs_751235320

6 SubmittersRCV000019606 RCV000169461 RCV000593270

NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)

SNV
Germline

Chr14:94382686

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA274042

rs_199422210

4 SubmittersRCV000169206

NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)

SNV
Germline

Chr14:94378529

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350451

rs_61761869

2 SubmittersRCV000206411 RCV000729874

NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)

SNV
Germline

Chr14:94378612

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350011

rs_864622046

2 SubmittersRCV000205912 RCV000731082

NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr14:94382700

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA348651

rs_864622051

4 SubmittersRCV000204423

NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)

SNV
Germline

Chr14:94379553

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327337

rs_139964603

3 SubmittersRCV000394406 RCV001085209

NM_000295.5(SERPINA1):c.740G>A (p.Arg247His)

SNV
Germline

Chr14:94381048

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327416

rs_544632177

2 SubmittersRCV000298533 RCV002059215

NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)

SNV
Germline

Chr14:94383195

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided
Inborn genetic diseases
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327563

rs_147283849

6 SubmittersRCV000377547 RCV000364791 RCV003165759 RCV003910009

NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)

SNV
Germline

Chr14:94379607

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327349

rs_141620200

7 SubmittersRCV000366637 RCV000766819 RCV001081168 RCV003401263

NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)

SNV
Germline

Chr14:94378529

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327256

rs_61761869

12 SubmittersRCV000336993 RCV000443069 RCV003409418

NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)

SNV
Germline

Chr14:94379605

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327348

rs_138611390

4 SubmittersRCV000372916 RCV001088917 RCV002374482 RCV003930165

NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)

SNV
Germline

Chr14:94382686

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327472

rs_199422210

5 SubmittersRCV000388199 RCV001116057 RCV002348028 RCV003967809

NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)

SNV
Germline

Chr14:94383067

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7327535

rs_150784949

4 SubmittersRCV000322898 RCV000597535 RCV003338572

NM_000295.5(SERPINA1):c.-7A>G

SNV
Germline

Chr14:94388562

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA10641358

rs_559054925

4 SubmittersRCV000329132 RCV000594715 RCV003972344

NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)

SNV
Germline

Chr14:94378611

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7327281

rs_201774333

3 SubmittersRCV000285849 RCV002450873

NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)

SNV
Germline

Chr14:94381087

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7327424

rs_746197812

4 SubmittersRCV000314851 RCV000733122

NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)

SNV
Germline

Chr14:94383232

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327572

rs_200936638

2 SubmittersRCV000264721

NM_000295.5(SERPINA1):c.*1C>T

SNV
Germline

Chr14:94378448

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327243

rs_72547410

2 SubmittersRCV000316220 RCV003920318

NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)

SNV
Germline

Chr14:94379562

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7327340

rs_150455534

3 SubmittersRCV000407407 RCV003298374

NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)

SNV
Germline

Chr14:94382651

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327466

rs_368433503

2 SubmittersRCV000369653

NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)

SNV
Germline

Chr14:94383027

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7327525

rs_11575873

3 SubmittersRCV000298466 RCV000734670

NM_000295.5(SERPINA1):c.-10T>C

SNV
Germline

Chr14:94388565

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
not specified

Criteria Provided
Conflicting Classifications

CA10646638

rs_11558258

3 SubmittersRCV000383822 RCV000597167

NM_000295.5(SERPINA1):c.646+2T>C

SNV
Germline

Chr14:94382590

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7327455

rs_112661131

3 SubmittersRCV000411387

NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)

SNV
Unknown

Chr14:94383052

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

CA7327531

rs_762321137

1 SubmittersRCV000409474

NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)

SNV
Unknown

Chr14:94383217

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

CA16041710

rs_370038282

1 SubmittersRCV000411794

NM_000295.5(SERPINA1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr14:94383237

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

CA16041711

rs_1057516555

1 SubmittersRCV000411735

NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)

SNV
Germline

Chr14:94378480

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

CA390847337

rs_1488213352

1 SubmittersRCV000508902

NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)

SNV
Germline

Chr14:94378633

Likely pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

CA390847841

rs_1555367891

1 SubmittersRCV000512630

NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys)

SNV
Germline

Chr14:94382592

Likely pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

CA7327456

rs_756773408

1 SubmittersRCV000512625

NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)

SNV
Germline

Chr14:94383011

Pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

CA390850516

rs_1555369172

1 SubmittersRCV000512628

NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)

SNV
Germline

Chr14:94383069

Likely pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

CA390850636

rs_1457464431

1 SubmittersRCV000512624

NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)

SNV
Germline

Chr14:94382724

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327480

rs_112030253

5 SubmittersRCV000598234 RCV001084531 RCV003979953

NM_000295.5(SERPINA1):c.336G>A (p.Pro112=)

SNV
Germline

Chr14:94382902

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327513

rs_753313462

2 SubmittersRCV000735034 RCV001078757

NM_000295.5(SERPINA1):c.324C>T (p.Leu108=)

SNV
Germline

Chr14:94382914

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA487841253

rs_1555369128

2 SubmittersRCV000596999 RCV001410329

NM_000295.5(SERPINA1):c.918-4A>G

SNV
Germline

Chr14:94379615

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327353

rs_367822021

3 SubmittersRCV000593680 RCV001464971 RCV003905530

NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)

SNV
Germline

Chr14:94378572

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327266

rs_148362959

3 SubmittersRCV000594720 RCV001447395 RCV003962683

NM_000295.5(SERPINA1):c.1065+10C>T

SNV
Germline

Chr14:94379454

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327323

rs_56388024

3 SubmittersRCV000591160 RCV001079262 RCV003962685

NM_000295.5(SERPINA1):c.546C>T (p.Asn182=)

SNV
Germline

Chr14:94382692

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7327475

rs_113813309

3 SubmittersRCV000592006 RCV001398304 RCV002350426

NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn)

SNV
Germline

Chr14:94379603

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA7327347

rs_773222881

2 SubmittersRCV000593655 RCV001088192

NM_000295.5(SERPINA1):c.51C>T (p.Cys17=)

SNV
Germline

Chr14:94383187

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7327562

rs_143920236

3 SubmittersRCV000592418 RCV001079054 RCV003160048

NM_000295.5(SERPINA1):c.54G>A (p.Leu18=)

SNV
Germline

Chr14:94383184

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

CA487841420

rs_745679666

2 SubmittersRCV000594802 RCV003638684

NM_000295.5(SERPINA1):c.879C>A (p.His293Gln)

SNV
Germline

Chr14:94380909

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

CA7327386

rs_141095970

3 SubmittersRCV000594222 RCV002532643 RCV003392441

NM_000295.5(SERPINA1):c.1066-1G>T

SNV
Unknown

Chr14:94378641

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_1555367897

1 SubmittersRCV000667719

NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)

SNV
Unknown

Chr14:94381134

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_1445192595

1 SubmittersRCV000666593

NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)

SNV
Germline

Chr14:94382994

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

rs_113817720

4 SubmittersRCV000728194 RCV002485855 RCV003918187

NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)

SNV
Germline

Chr14:94381070

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder

Criteria Provided
Conflicting Classifications

rs_72552401

3 SubmittersRCV000728488 RCV001088314 RCV003953299

NM_000295.5(SERPINA1):c.978C>T (p.Val326=)

SNV
Germline

Chr14:94379551

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

rs_752267053

2 SubmittersRCV000728634 RCV003768179

NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg)

SNV
Germline

Chr14:94380889

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_550592374

4 SubmittersRCV000729755 RCV001083682 RCV002369991

NM_000295.5(SERPINA1):c.450A>G (p.Leu150=)

SNV
Germline

Chr14:94382788

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

rs_146596574

2 SubmittersRCV000729855 RCV001414765

NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)

SNV
Germline

Chr14:94378500

Conflicting classifications of pathogenicity

Condition: not provided
Alpha-1-antitrypsin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_766128806

4 SubmittersRCV000731004 RCV001087977 RCV002343598

NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)

SNV
Germline

Chr14:94380955

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_1566753480

1 SubmittersRCV000768545

NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)

SNV
Germline

Chr14:94382994

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_113817720

1 SubmittersRCV000768537

NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)

SNV
Germline

Chr14:94379571

Likely pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

rs_746155701

1 SubmittersRCV000853412

NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)

SNV
Germline

Chr14:94378637

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

rs_373630097

2 SubmittersRCV000870248

NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter)

SNV
Germline

Chr14:94380947

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_760917668

1 SubmittersRCV001065386

NM_000295.5(SERPINA1):c.*80C>T

SNV
Germline

Chr14:94378369

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1243163

2 SubmittersRCV001117402 RCV001655677

NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)

SNV
Germline

Chr14:94378602

Conflicting classifications of pathogenicity

Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

rs_1378794678

2 SubmittersRCV001119005

NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)

SNV
Germline

Chr14:94378528

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_199422209

3 SubmittersRCV001377892

NM_000295.5(SERPINA1):c.1096G>C (p.Glu366Gln)

SNV
Germline

Chr14:94378610

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

rs_28929474

1 SubmittersRCV001984018

NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter)

SNV
Unknown

Chr14:94381115

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002310455

NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)

SNV
Germline

Chr14:94379499

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha-1-antitrypsin deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002383722 RCV003095047

NM_000295.5(SERPINA1):c.-5+1G>A

SNV
Germline

Chr14:94388559

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003064236

NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)

SNV
Germline

Chr14:94380935

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002598958

NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly)

SNV
Germline

Chr14:94378609

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002786692

NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr14:94382835

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002810077

NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)

SNV
Germline

Chr14:94380941

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002947641

NM_000295.5(SERPINA1):c.647-2A>C

SNV
Unknown

Chr14:94381143

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003472651

NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)

SNV
Unknown

Chr14:94383083

Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003472653

NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)

SNV
Germline

Chr14:94382763

Pathogenic/Likely pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472658

NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)

SNV
Germline

Chr14:94382670

Pathogenic

Alpha-1-antitrypsin deficiency

No Assertion Criteria Provided

1 SubmittersRCV003486404

NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)

SNV
Germline

Chr14:94382895

Pathogenic

Alpha-1-antitrypsin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003829321