C0221757 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369084	NM_001127701.1(SERPINA1):c.*1703C>T	SERPINA1	Single nucleotide variant	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 887822	NM_000295.5(SERPINA1):c.*1628G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887823	NM_000295.5(SERPINA1):c.*1576G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314995	NM_000295.5(SERPINA1):c.*1567C>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314996	NM_000295.5(SERPINA1):c.*1555C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 314997	NM_000295.5(SERPINA1):c.*1494A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314998	NM_000295.5(SERPINA1):c.*1414G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314999	NM_000295.5(SERPINA1):c.*1331G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign/Likely benign
Select item 315000	NM_000295.5(SERPINA1):c.*1294T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315001	NM_000295.5(SERPINA1):c.*1292C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315002	NM_000295.5(SERPINA1):c.*1287G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315003	NM_000295.5(SERPINA1):c.*1235C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315004	NM_000295.5(SERPINA1):c.*1221A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 315005	NM_000295.5(SERPINA1):c.*1195G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885615	NM_000295.5(SERPINA1):c.*1173T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315006	NM_000295.5(SERPINA1):c.*1141A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315007	NM_000295.5(SERPINA1):c.*1067G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 885616	NM_000295.5(SERPINA1):c.*1066G>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885617	NM_000295.5(SERPINA1):c.*1061C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315008	NM_000295.5(SERPINA1):c.*968T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 886635	NM_000295.5(SERPINA1):c.*946C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315009	NM_000295.5(SERPINA1):c.*854T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 886636	NM_000295.5(SERPINA1):c.*853C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315010	NM_000295.5(SERPINA1):c.*792C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 886637	NM_000295.5(SERPINA1):c.*741C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315011	NM_000295.5(SERPINA1):c.*725G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887882	NM_000295.5(SERPINA1):c.*696C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315012	NM_000295.5(SERPINA1):c.*694A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315013	NM_000295.5(SERPINA1):c.*678C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887883	NM_000295.5(SERPINA1):c.*627G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315014	NM_000295.5(SERPINA1):c.*500G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315015	NM_000295.5(SERPINA1):c.*481G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 887884	NM_000295.5(SERPINA1):c.*469G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884739	NM_000295.5(SERPINA1):c.*442A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315016	NM_000295.5(SERPINA1):c.*419C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884740	NM_000295.5(SERPINA1):c.*413C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884741	NM_000295.5(SERPINA1):c.*410A>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315017	NM_000295.5(SERPINA1):c.*400C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884742	NM_000295.5(SERPINA1):c.*371G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884743	NM_000295.5(SERPINA1):c.*326A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 315018	NM_000295.5(SERPINA1):c.*316G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 885676	NM_000295.5(SERPINA1):c.*315T>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315019	NM_000295.5(SERPINA1):c.*263C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885677	NM_000295.5(SERPINA1):c.*241G>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315020	NM_000295.5(SERPINA1):c.*224G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency +1 more	GBenign
Select item 885678	NM_000295.5(SERPINA1):c.*182C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315021	NM_000295.5(SERPINA1):c.*172T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885679	NM_000295.5(SERPINA1):c.*80C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885680	NM_000295.5(SERPINA1):c.*18A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315022	NM_000295.5(SERPINA1):c.*1C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	SERPINA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1114281	NM_000295.5(SERPINA1):c.1248C>A (p.Thr416=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440487	NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SERPINA1 (M409T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 1129738	NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val)	SERPINA1 (M409V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1103533	NM_000295.5(SERPINA1):c.1221C>T (p.Leu407=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219371	NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile)	SERPINA1 (T403I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 595455	NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 17958	NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	SERPINA1 (E400D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2678660	NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)	SERPINA1 (F394fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 1140258	NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1066793	NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)	SERPINA1 (P393R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 17965	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1 (P393L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 289135	NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	SERPINA1 (P393S)	Single nucleotide variant (missense variant)	SERPINA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 219360	NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	SERPINA1 (P393T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1133905	NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 188845	NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	SERPINA1 (E387fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 17964	NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)	SERPINA1 (E387K)	Single nucleotide variant (missense variant)	SERPINA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 698143	NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition +1 more	GLikely benign
Select item 444037	NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	SERPINA1 (E387fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 711133	NM_000295.5(SERPINA1):c.1155C>T (p.Pro385=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition +1 more	GLikely benign
Select item 1147150	NM_000295.5(SERPINA1):c.1152C>T (p.Ile384=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 17982	NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)	SERPINA1 (M382R)	Single nucleotide variant (missense variant)	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation +1 more	GPathogenic
Select item 440488	NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp)	SERPINA1 (A379D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 499171	NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 626307	NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys)	SERPINA1 (E378K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 552891	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	SERPINA1 (L377fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 1634106	NM_000295.5(SERPINA1):c.1122C>T (p.Ala374=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626299	NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp)	SERPINA1 (A374D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 799273	NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 219353	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	SERPINA1 (E370fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 1075108	NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs)	SERPINA1 (A372fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 886687	NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GConflicting classifications of pathogenicity
Select item 1989795	NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly)	SERPINA1 (E366G)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 1492979	NM_000295.5(SERPINA1):c.1096G>C (p.Glu366Gln)	SERPINA1 (E366Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 626304	NM_000295.4(SERPINA1):c.[1096G>A;35T>C]	SERPINA1 (E366K +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +7 more	GPathogenic; risk factor
Select item 315023	NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 219357	NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)	SERPINA1 (D365V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 219370	NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr)	SERPINA1 (D365Y)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 17962	NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)	SERPINA1 (D365N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2085261	NM_000295.5(SERPINA1):c.1092C>A (p.Ile364=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1094495	NM_000295.5(SERPINA1):c.1092C>T (p.Ile364=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition +1 more	GLikely benign
Select item 1579830	NM_000295.5(SERPINA1):c.1083G>T (p.Val361=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 17985	NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)	SERPINA1 (A360T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932547	NM_000295.5(SERPINA1):c.1077G>A (p.Lys359=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 556005	NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu)	SERPINA1 (K359E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 444036	NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)	SERPINA1 (H358R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 444035	NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer)	SERPINA1	Deletion (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 701633	NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)	SERPINA1 (V357M)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GConflicting classifications of pathogenicity
Select item 255787	NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=)	SERPINA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 444034	NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=)	SERPINA1	Deletion (splice acceptor variant +2 more)	Alpha-1-antitrypsin deficiency	GPathogenic

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