SERPINA11[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	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 3160294	NM_001080451.2(SERPINA11):c.1254C>A (p.Asn418Lys)	SERPINA11 (N418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352538	NM_001080451.2(SERPINA11):c.1249G>T (p.Val417Phe)	SERPINA11 (V417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160292	NM_001080451.2(SERPINA11):c.1161G>C (p.Met387Ile)	SERPINA11 (M387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214512	NM_001080451.2(SERPINA11):c.1161G>T (p.Met387Ile)	SERPINA11 (M387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236198	NM_001080451.2(SERPINA11):c.1117G>A (p.Ala373Thr)	SERPINA11 (A373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388379	NM_001080451.2(SERPINA11):c.1114G>A (p.Gly372Arg)	SERPINA11 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310640	NM_001080451.2(SERPINA11):c.1106C>G (p.Thr369Ser)	SERPINA11 (T369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528742	NM_001080451.2(SERPINA11):c.1001A>G (p.Asn334Ser)	SERPINA11 (N334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528509	NM_001080451.2(SERPINA11):c.977T>C (p.Ile326Thr)	SERPINA11 (I326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317539	NM_001080451.2(SERPINA11):c.941G>A (p.Arg314Lys)	SERPINA11 (R314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582926	NM_001080451.2(SERPINA11):c.881A>G (p.Gln294Arg)	SERPINA11 (Q294R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2404480	NM_001080451.2(SERPINA11):c.842C>T (p.Pro281Leu)	SERPINA11 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401874	NM_001080451.2(SERPINA11):c.832C>T (p.Leu278Phe)	SERPINA11 (L278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288954	NM_001080451.2(SERPINA11):c.821C>T (p.Ala274Val)	SERPINA11 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381205	NM_001080451.2(SERPINA11):c.787G>A (p.Val263Ile)	SERPINA11 (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569994	NM_001080451.2(SERPINA11):c.724G>A (p.Val242Ile)	SERPINA11 (V242I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458236	NM_001080451.2(SERPINA11):c.688G>A (p.Glu230Lys)	SERPINA11 (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 631492	NM_001080451.2(SERPINA11):c.672C>A (p.Tyr224Ter)	SERPINA11 (Y224*)	Single nucleotide variant (nonsense)	Pericardial effusion +1 more	GLikely pathogenic
Select item 2544651	NM_001080451.2(SERPINA11):c.667C>G (p.Arg223Gly)	SERPINA11 (R223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373717	NM_001080451.2(SERPINA11):c.667C>T (p.Arg223Cys)	SERPINA11 (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482647	NM_001080451.2(SERPINA11):c.655C>T (p.His219Tyr)	SERPINA11 (H219Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252082	NM_001080451.2(SERPINA11):c.643+1G>A	SERPINA11	Single nucleotide variant (splice donor variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 2454314	NM_001080451.2(SERPINA11):c.626A>G (p.Asn209Ser)	SERPINA11 (N209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160299	NM_001080451.2(SERPINA11):c.619C>T (p.Leu207Phe)	SERPINA11 (L207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480029	NM_001080451.2(SERPINA11):c.589C>T (p.Pro197Ser)	SERPINA11 (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346426	NM_001080451.2(SERPINA11):c.577G>A (p.Val193Met)	SERPINA11 (V193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272500	NM_001080451.2(SERPINA11):c.536A>G (p.Gln179Arg)	SERPINA11 (Q179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570416	NM_001080451.2(SERPINA11):c.475G>C (p.Glu159Gln)	SERPINA11 (E159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317538	NM_001080451.2(SERPINA11):c.437G>A (p.Arg146Gln)	SERPINA11 (R146Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231841	NM_001080451.2(SERPINA11):c.359G>A (p.Arg120Gln)	SERPINA11 (R120Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317537	NM_001080451.2(SERPINA11):c.358C>T (p.Arg120Trp)	SERPINA11 (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160297	NM_001080451.2(SERPINA11):c.298C>A (p.Leu100Met)	SERPINA11 (L100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160296	NM_001080451.2(SERPINA11):c.271G>C (p.Ala91Pro)	SERPINA11 (A91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234702	NM_001080451.2(SERPINA11):c.256C>A (p.Leu86Met)	SERPINA11 (L86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545374	NM_001080451.2(SERPINA11):c.239T>C (p.Ile80Thr)	SERPINA11 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407530	NM_001080451.2(SERPINA11):c.211G>A (p.Gly71Arg)	SERPINA11 (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389156	NM_001080451.2(SERPINA11):c.208C>T (p.Pro70Ser)	SERPINA11 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681537	NM_001080451.2(SERPINA11):c.201A>T (p.Ala67=)	SERPINA11	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3160295	NM_001080451.2(SERPINA11):c.167A>G (p.Asn56Ser)	SERPINA11 (N56S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317065	NM_001080451.2(SERPINA11):c.104C>A (p.Pro35His)	SERPINA11 (P35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293007	NM_001080451.2(SERPINA11):c.103C>A (p.Pro35Thr)	SERPINA11 (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369029	NM_001080451.2(SERPINA11):c.64C>A (p.Leu22Ile)	SERPINA11 (L22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 815674	GRCh37/hg19 14q32.13(chr14:94831963-94934610)x1	SERPINA1, SERPINA11 +2 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70