SERPINA11[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 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	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 2352538	NM_001080451.2(SERPINA11):c.1249G>T (p.Val417Phe)	SERPINA11 (V417F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214512	NM_001080451.2(SERPINA11):c.1161G>T (p.Met387Ile)	SERPINA11 (M387I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236198	NM_001080451.2(SERPINA11):c.1117G>A (p.Ala373Thr)	SERPINA11 (A373T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388379	NM_001080451.2(SERPINA11):c.1114G>A (p.Gly372Arg)	SERPINA11 (G372R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310640	NM_001080451.2(SERPINA11):c.1106C>G (p.Thr369Ser)	SERPINA11 (T369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528742	NM_001080451.2(SERPINA11):c.1001A>G (p.Asn334Ser)	SERPINA11 (N334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528509	NM_001080451.2(SERPINA11):c.977T>C (p.Ile326Thr)	SERPINA11 (I326T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2401874	NM_001080451.2(SERPINA11):c.832C>T (p.Leu278Phe)	SERPINA11 (L278F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288954	NM_001080451.2(SERPINA11):c.821C>T (p.Ala274Val)	SERPINA11 (A274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381205	NM_001080451.2(SERPINA11):c.787G>A (p.Val263Ile)	SERPINA11 (V263I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569994	NM_001080451.2(SERPINA11):c.724G>A (p.Val242Ile)	SERPINA11 (V242I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458236	NM_001080451.2(SERPINA11):c.688G>A (p.Glu230Lys)	SERPINA11 (E230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2373717	NM_001080451.2(SERPINA11):c.667C>T (p.Arg223Cys)	SERPINA11 (R223C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482647	NM_001080451.2(SERPINA11):c.655C>T (p.His219Tyr)	SERPINA11 (H219Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2480029	NM_001080451.2(SERPINA11):c.589C>T (p.Pro197Ser)	SERPINA11 (P197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346426	NM_001080451.2(SERPINA11):c.577G>A (p.Val193Met)	SERPINA11 (V193M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272500	NM_001080451.2(SERPINA11):c.536A>G (p.Gln179Arg)	SERPINA11 (Q179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570416	NM_001080451.2(SERPINA11):c.475G>C (p.Glu159Gln)	SERPINA11 (E159Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231841	NM_001080451.2(SERPINA11):c.359G>A (p.Arg120Gln)	SERPINA11 (R120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2234702	NM_001080451.2(SERPINA11):c.256C>A (p.Leu86Met)	SERPINA11 (L86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545374	NM_001080451.2(SERPINA11):c.239T>C (p.Ile80Thr)	SERPINA11 (I80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407530	NM_001080451.2(SERPINA11):c.211G>A (p.Gly71Arg)	SERPINA11 (G71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389156	NM_001080451.2(SERPINA11):c.208C>T (p.Pro70Ser)	SERPINA11 (P70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317065	NM_001080451.2(SERPINA11):c.104C>A (p.Pro35His)	SERPINA11 (P35H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293007	NM_001080451.2(SERPINA11):c.103C>A (p.Pro35Thr)	SERPINA11 (P35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369029	NM_001080451.2(SERPINA11):c.64C>A (p.Leu22Ile)	SERPINA11 (L22I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +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	ABCD4, ABHD12B +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	SERPINA6, SERPINA9 +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	BTBD6, MIR369 +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)	ABCD4, ABHD12B +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	COX8C, DDX24 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 60