ClinVar for Gene (Select 5265) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160277	NM_000295.5(SERPINA1):c.940A>C (p.Lys314Gln)	SERPINA1 (K314Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160276	NM_000295.5(SERPINA1):c.918G>A (p.Arg306=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3160275	NM_000295.5(SERPINA1):c.1157C>G (p.Pro386Arg)	SERPINA1 (P386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061052	NM_000295.5(SERPINA1):c.115C>T (p.His39Tyr)	SERPINA1 (H39Y)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GUncertain significance
Select item 3060659	NM_000295.5(SERPINA1):c.1014T>C (p.Asn338=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GLikely benign
Select item 3060656	NM_000295.5(SERPINA1):c.987_988insT (p.Leu330fs)	SERPINA1 (L330fs)	Insertion (frameshift variant)	SERPINA1-related condition	GBenign
Select item 3060651	NM_000295.5(SERPINA1):c.969G>C (p.Leu323=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GLikely benign
Select item 3060405	NM_000295.5(SERPINA1):c.1020T>C (p.Ala340=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GLikely benign
Select item 3059598	NM_000295.5(SERPINA1):c.966T>A (p.Asp322Glu)	SERPINA1 (D322E)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3059246	NM_000295.5(SERPINA1):c.1032G>A (p.Gly344=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GBenign
Select item 3059131	NM_000295.5(SERPINA1):c.964G>A (p.Asp322Asn)	SERPINA1 (D322N)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3058986	NM_000295.5(SERPINA1):c.975C>A (p.Ser325Arg)	SERPINA1 (S325R)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3058300	NM_000295.5(SERPINA1):c.835C>A (p.Pro279Thr)	SERPINA1 (P279T)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GUncertain significance
Select item 3057937	NM_000295.5(SERPINA1):c.27C>T (p.Ile9=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GLikely benign
Select item 3040639	NM_000295.5(SERPINA1):c.*10G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	SERPINA1-related condition	GLikely benign
Select item 3038335	NM_000295.5(SERPINA1):c.980_981insTA (p.Gly328fs)	SERPINA1 (G328fs)	Insertion (frameshift variant)	SERPINA1-related condition	GBenign
Select item 3036555	NM_000295.5(SERPINA1):c.1076A>T (p.Lys359Met)	SERPINA1 (K359M)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3034324	NM_000295.5(SERPINA1):c.922G>A (p.Ala308Thr)	SERPINA1 (A308T)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3033744	NM_000295.5(SERPINA1):c.923C>T (p.Ala308Val)	SERPINA1 (A308V)	Single nucleotide variant (missense variant)	SERPINA1-related condition	GBenign
Select item 3033678	NM_000295.5(SERPINA1):c.927C>T (p.Ser309=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition	GLikely benign
Select item 3031775	NM_000295.5(SERPINA1):c.-20C>A	SERPINA1	Single nucleotide variant (5 prime UTR variant +1 more)	SERPINA1-related condition	GLikely benign
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 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2683276	NM_000295.5(SERPINA1):c.100A>C (p.Lys34Gln)	SERPINA1 (K34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683275	NM_000295.5(SERPINA1):c.1155_1156delinsTG (p.Pro386Ala)	SERPINA1 (P386A)	Indel (missense variant)	not provided	GUncertain significance
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 2644478	NM_006220.3(SERPINA2):c.31C>T (p.Leu11=)	SERPINA1, SERPINA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636546	NM_000295.5(SERPINA1):c.221T>A (p.Ile74Asn)	SERPINA1 (I74N)	Single nucleotide variant (missense variant)	SERPINA1-related condition	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 2577261	NM_000295.5(SERPINA1):c.1093G>C (p.Asp365His)	SERPINA1 (D365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577260	NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His)	SERPINA1 (P393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564198	NM_000295.5(SERPINA1):c.921T>C (p.Ser307=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2527466	NM_000295.5(SERPINA1):c.959C>A (p.Thr320Asn)	SERPINA1 (T320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490100	NM_000295.5(SERPINA1):c.1139T>C (p.Ile380Thr)	SERPINA1 (I380T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2449431	NM_000295.5(SERPINA1):c.997A>T (p.Thr333Ser)	SERPINA1 (T333S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2449430	NM_000295.5(SERPINA1):c.566C>T (p.Thr189Ile)	SERPINA1 (T189I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431084	NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg)	SERPINA1 (G282R)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
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 2285415	NM_000295.5(SERPINA1):c.241A>G (p.Ile81Val)	SERPINA1 (I81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277485	NM_000295.5(SERPINA1):c.415G>T (p.Gly139Cys)	SERPINA1 (G139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205314	NM_000295.5(SERPINA1):c.136A>G (p.Thr46Ala)	SERPINA1 (T46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases +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

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