SERPINA3[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 3039814	NM_001085.5(SERPINA3):c.-6T>C	SERPINA3	Single nucleotide variant (5 prime UTR variant)	SERPINA3-related disorder	GLikely benign
Select item 2399273	NM_001085.5(SERPINA3):c.17C>T (p.Pro6Leu)	SERPINA3 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18051	NM_001085.5(SERPINA3):c.25G>A (p.Ala9Thr)	SERPINA3 (A9T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 789642	NM_001085.5(SERPINA3):c.36C>T (p.Leu12=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3317545	NM_001085.5(SERPINA3):c.49T>G (p.Phe17Val)	SERPINA3 (F17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384788	NM_001085.5(SERPINA3):c.70C>T (p.His24Tyr)	SERPINA3 (H24Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2644481	NM_001085.5(SERPINA3):c.73C>T (p.Pro25Ser)	SERPINA3 (P25S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2521604	NM_001085.5(SERPINA3):c.133G>A (p.Val45Met)	SERPINA3 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039878	NM_001085.5(SERPINA3):c.141C>T (p.Leu47=)	SERPINA3	Single nucleotide variant (synonymous variant)	SERPINA3-related disorder	GLikely benign
Select item 2302047	NM_001085.5(SERPINA3):c.152C>A (p.Ser51Tyr)	SERPINA3 (S51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160313	NM_001085.5(SERPINA3):c.154G>A (p.Ala52Thr)	SERPINA3 (A52T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2644482	NM_001085.5(SERPINA3):c.158A>G (p.Asn53Ser)	SERPINA3 (N53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720689	NM_001085.5(SERPINA3):c.177C>T (p.Ser59=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750272	NM_001085.5(SERPINA3):c.186G>A (p.Lys62=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606189	NM_001085.5(SERPINA3):c.194T>G (p.Val65Gly)	SERPINA3 (V65G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 18049	NM_001085.5(SERPINA3):c.233T>C (p.Leu78Pro)	SERPINA3 (L78P)	Single nucleotide variant (missense variant)	ANTICHYMOTRYPSIN BOCHUM 1	GPathogenic
Select item 2299644	NM_001085.5(SERPINA3):c.247G>T (p.Ala83Ser)	SERPINA3 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789820	NM_001085.5(SERPINA3):c.258C>T (p.Phe86=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403428	NM_001085.5(SERPINA3):c.303A>G (p.Lys101=)	SERPINA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2295841	NM_001085.5(SERPINA3):c.323C>T (p.Thr108Met)	SERPINA3 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041574	NM_001085.5(SERPINA3):c.363C>T (p.His121=)	SERPINA3	Single nucleotide variant (synonymous variant)	SERPINA3-related disorder	GLikely benign
Select item 1049597	NM_001085.5(SERPINA3):c.370C>G (p.Arg124Gly)	SERPINA3 (R124G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549575	NM_001085.5(SERPINA3):c.371G>A (p.Arg124His)	SERPINA3 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280288	NM_001085.5(SERPINA3):c.380A>G (p.Asn127Ser)	SERPINA3 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251396	NM_001085.5(SERPINA3):c.407G>A (p.Ser136Asn)	SERPINA3 (S136N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160316	NM_001085.5(SERPINA3):c.409A>G (p.Met137Val)	SERPINA3 (M137V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160317	NM_001085.5(SERPINA3):c.470C>T (p.Ala157Val)	SERPINA3 (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333316	NM_001085.5(SERPINA3):c.482A>G (p.Tyr161Cys)	SERPINA3 (Y161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472239	NM_001085.5(SERPINA3):c.490G>A (p.Glu164Lys)	SERPINA3 (E164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160318	NM_001085.5(SERPINA3):c.550G>A (p.Val184Met)	SERPINA3 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298079	NM_001085.5(SERPINA3):c.569G>T (p.Gly190Val)	SERPINA3 (G190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644483	NM_001085.5(SERPINA3):c.570G>A (p.Gly190=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776856	NM_001085.5(SERPINA3):c.603G>A (p.Ser201=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268348	NM_001085.5(SERPINA3):c.610A>G (p.Met204Val)	SERPINA3 (M204V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2689942	NM_001085.5(SERPINA3):c.694T>G (p.Tyr232Asp)	SERPINA3 (Y232D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708583	NM_001085.5(SERPINA3):c.710A>G (p.Lys237Arg)	SERPINA3 (K237R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 432469	NM_001085.5(SERPINA3):c.724C>A (p.Pro242Thr)	SERPINA3 (P242T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18050	NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala)	SERPINA3 (P252A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620390	NM_001085.5(SERPINA3):c.757T>G (p.Tyr253Asp)	SERPINA3 (Y253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321239	NM_001085.5(SERPINA3):c.779C>T (p.Ser260Phe)	SERPINA3 (S260F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644484	NM_001085.5(SERPINA3):c.786C>A (p.Thr262=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770783	NM_001085.5(SERPINA3):c.798G>A (p.Leu266=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3037686	NM_001085.5(SERPINA3):c.819C>T (p.Ser273=)	SERPINA3	Single nucleotide variant (synonymous variant)	SERPINA3-related disorder	GBenign
Select item 2360941	NM_001085.5(SERPINA3):c.820G>A (p.Ala274Thr)	SERPINA3 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773043	NM_001085.5(SERPINA3):c.822A>C (p.Ala274=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747291	NM_001085.5(SERPINA3):c.870G>T (p.Met290Ile)	SERPINA3 (M290I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728783	NM_001085.5(SERPINA3):c.893G>A (p.Arg298Gln)	SERPINA3 (R298Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730417	NM_001085.5(SERPINA3):c.918-9G>A	SERPINA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3160320	NM_001085.5(SERPINA3):c.926G>A (p.Gly309Asp)	SERPINA3 (G309D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1301573	NM_001085.5(SERPINA3):c.927_928insTTCTA (p.Glu310delinsPheTer)	SERPINA3	Insertion (nonsense)	not specified	GUncertain significance
Select item 3040753	NM_001085.5(SERPINA3):c.957G>A (p.Ser319=)	SERPINA3	Single nucleotide variant (synonymous variant)	SERPINA3-related disorder	GLikely benign
Select item 2366019	NM_001085.5(SERPINA3):c.997A>C (p.Ile333Leu)	SERPINA3 (I333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672567	NM_001085.5(SERPINA3):c.1014C>T (p.Thr338=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037310	NM_001085.5(SERPINA3):c.1041A>G (p.Thr347=)	SERPINA3	Single nucleotide variant (synonymous variant)	SERPINA3-related disorder	GBenign
Select item 3160310	NM_001085.5(SERPINA3):c.1088T>A (p.Leu363His)	SERPINA3 (L363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317546	NM_001085.5(SERPINA3):c.1102G>C (p.Glu368Gln)	SERPINA3 (E368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160311	NM_001085.5(SERPINA3):c.1120G>A (p.Ala374Thr)	SERPINA3 (A374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317547	NM_001085.5(SERPINA3):c.1180C>T (p.Arg394Cys)	SERPINA3 (R394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644485	NM_001085.5(SERPINA3):c.1181G>A (p.Arg394His)	SERPINA3 (R394H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18047	NM_001085.5(SERPINA3):c.1240A>G (p.Met414Val)	SERPINA3 (M414V)	Single nucleotide variant (missense variant)	Peripheral arterial occlusive disease 1	GUncertain significance
Select item 3160312	NM_001085.5(SERPINA3):c.1245C>A (p.Ser415Arg)	SERPINA3 (S415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723136	NM_001085.5(SERPINA3):c.1247_1248del (p.Lys416fs)	SERPINA3 (K416fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2644486	NM_001085.5(SERPINA3):c.1254C>G (p.Thr418=)	SERPINA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644487	NM_001085.5(SERPINA3):c.*7C>A	SERPINA3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2427553	NC_000014.8:g.(?_95078677)_(95599795_?)dup	DICER1, GSC +1 more	Duplication	DICER1-related tumor predisposition	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	AK7, ATG2B +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807616	GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3	GSC, PPP4R4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 980619	GRCh37/hg19 14q32.13(chr14:94899911-95102132)x1	SERPINA3, SERPINA5 +4 more	Copy number loss	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 687525	GRCh37/hg19 14q32.13(chr14:94859762-95099866)x3	SERPINA11, SERPINA12 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 93