SERPINA11[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 42