ClinVar for MedGen (Select 67461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017696	NM_000295.5(SERPINA1):c.647-13C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 3016649	NM_000295.5(SERPINA1):c.987A>G (p.Gln329=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 3004150	NM_000295.5(SERPINA1):c.1066-14T>C	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2998658	NM_000295.5(SERPINA1):c.1065+16C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2994779	NM_000295.5(SERPINA1):c.917+20G>C	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2984993	NM_000295.5(SERPINA1):c.646+15C>A	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2975789	NM_000295.5(SERPINA1):c.294T>C (p.Asp98=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2974650	NM_000295.5(SERPINA1):c.747C>G (p.Gly249=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2969422	NM_000295.5(SERPINA1):c.210C>T (p.Asn70=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2968675	NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)	SERPINA1 (Q115*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2963360	NM_000295.5(SERPINA1):c.519C>T (p.Asp173=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2959460	NM_000295.5(SERPINA1):c.699C>T (p.His233=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2917388	NM_000295.5(SERPINA1):c.917+13C>A	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2906205	NM_000295.5(SERPINA1):c.465G>A (p.Leu155=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2902734	NM_000295.5(SERPINA1):c.481T>C (p.Leu161=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2900197	NM_000295.5(SERPINA1):c.189C>T (p.Arg63=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2898496	NM_000295.5(SERPINA1):c.1066-20T>A	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2892237	NM_000295.5(SERPINA1):c.24C>T (p.Gly8=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2891872	NM_000295.5(SERPINA1):c.768T>C (p.Cys256=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2891105	NM_000295.5(SERPINA1):c.1065+17G>A	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2866486	NM_000295.5(SERPINA1):c.27C>A (p.Ile9=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2863031	NM_000295.5(SERPINA1):c.627G>C (p.Val209=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2860607	NM_000295.5(SERPINA1):c.618T>C (p.Phe206=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2858409	NM_000295.5(SERPINA1):c.1065+19C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2856441	NM_000295.5(SERPINA1):c.708G>A (p.Gln236=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2854193	NM_000295.5(SERPINA1):c.441C>G (p.Gly147=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2852864	NM_000295.5(SERPINA1):c.1066-14_1066-12del	SERPINA1	Deletion (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2850820	NM_000295.5(SERPINA1):c.646+15C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2823307	NM_000295.5(SERPINA1):c.30C>T (p.Leu10=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2815596	NM_000295.5(SERPINA1):c.111A>G (p.Thr37=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2809424	NM_000295.5(SERPINA1):c.771G>A (p.Lys257=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2801126	NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 2790402	NM_000295.5(SERPINA1):c.943C>T (p.Leu315=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2768536	NM_000295.5(SERPINA1):c.423C>A (p.Gly141=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2763546	NM_000295.5(SERPINA1):c.372C>A (p.Leu124=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2758522	NM_000295.5(SERPINA1):c.1066-5T>G	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2756134	NM_000295.5(SERPINA1):c.1066-15T>C	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2738591	NM_000295.5(SERPINA1):c.646+16C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2736150	NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro)	SERPINA1 (L287P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 2732390	NM_000295.5(SERPINA1):c.825C>T (p.Ile275=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2731719	NM_000295.5(SERPINA1):c.1066-17G>C	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2707054	NM_000295.5(SERPINA1):c.279G>A (p.Lys93=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2704680	NM_000295.5(SERPINA1):c.1066-6C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2702334	NM_000295.5(SERPINA1):c.646+18G>C	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2690996	NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)	SERPINA1 (Q190*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2678662	NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)	SERPINA1 (K159*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678661	NM_000295.5(SERPINA1):c.557del (p.Glu186fs)	SERPINA1 (E186fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678660	NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)	SERPINA1 (F394fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678659	NM_000295.5(SERPINA1):c.216del (p.Asn73fs)	SERPINA1 (N73fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678658	NM_000295.5(SERPINA1):c.480del (p.Lys160fs)	SERPINA1 (K160fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 2678657	NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)	SERPINA1 (P52L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678656	NM_000295.5(SERPINA1):c.351_352del (p.His117fs)	SERPINA1 (H117fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678655	NM_000295.5(SERPINA1):c.647-2A>C	SERPINA1	Single nucleotide variant (splice acceptor variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2626789	NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs)	SERPINA1 (M87fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2415024	NM_000295.5(SERPINA1):c.917+9C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2201084	NM_000295.5(SERPINA1):c.1050C>G (p.Pro350=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2189593	NM_000295.5(SERPINA1):c.573G>A (p.Gly191=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2180675	NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +2 more	GLikely benign
Select item 2178403	NM_000295.5(SERPINA1):c.246T>C (p.Ala82=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2174665	NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)	SERPINA1 (Q285*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2161643	NM_000295.5(SERPINA1):c.483G>A (p.Leu161=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2155461	NM_000295.5(SERPINA1):c.82del (p.Gln28fs)	SERPINA1 (Q28fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2144215	NM_000295.5(SERPINA1):c.912C>T (p.Asp304=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2143796	NM_000295.5(SERPINA1):c.162G>C (p.Leu54=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2137619	NM_000295.5(SERPINA1):c.-5+1G>A	SERPINA1	Single nucleotide variant (intron variant +1 more)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2117258	NM_000295.5(SERPINA1):c.819C>A (p.Thr273=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2112141	NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2093551	NM_000295.5(SERPINA1):c.561G>A (p.Lys187=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely 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 2073463	NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr)	SERPINA1 (H286Y)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2060342	NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)	SERPINA1 (K283*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2044901	NM_000295.5(SERPINA1):c.435C>T (p.Ser145=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2039841	NM_000295.5(SERPINA1):c.891C>G (p.Thr297=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2037318	NM_000295.5(SERPINA1):c.555G>A (p.Val185=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2029608	NM_000295.5(SERPINA1):c.897C>T (p.Phe299=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2013928	NM_000295.5(SERPINA1):c.69G>A (p.Leu23=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1997864	NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)	SERPINA1 (Q135*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
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 1974661	NM_000295.5(SERPINA1):c.237G>A (p.Val79=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1955598	NM_000295.5(SERPINA1):c.54G>C (p.Leu18=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 1948840	NM_000295.5(SERPINA1):c.647-4C>T	SERPINA1	Single nucleotide variant (intron variant)	Alpha-1-antitrypsin deficiency	GLikely benign
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 1929794	NM_000295.5(SERPINA1):c.600T>C (p.Leu200=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1915388	NM_000295.5(SERPINA1):c.123T>C (p.Asp41=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1915127	NM_000295.5(SERPINA1):c.411C>G (p.Thr137=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1907189	NM_000295.5(SERPINA1):c.108T>C (p.Asp36=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1771065	NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)	SERPINA1 (G344R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1748482	NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1726771	NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter)	SERPINA1 (K225*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 1673475	NM_000295.5(SERPINA1):c.717C>T (p.Thr239=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1669479	NM_000295.5(SERPINA1):c.321C>T (p.Asn107=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1648842	NM_000295.5(SERPINA1):c.648C>A (p.Gly216=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
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 1630310	NM_000295.5(SERPINA1):c.201C>G (p.His67Gln)	SERPINA1 (H67Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1628659	NM_000295.5(SERPINA1):c.627G>A (p.Val209=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1613523	NM_000295.5(SERPINA1):c.795G>A (p.Leu265=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1610952	NM_000295.5(SERPINA1):c.934T>C (p.Leu312=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1606781	NM_000295.5(SERPINA1):c.372C>T (p.Leu124=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1606294	NM_000295.5(SERPINA1):c.564T>A (p.Gly188=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1597453	NM_000295.5(SERPINA1):c.738G>A (p.Lys246=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign

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