SERPINA4[gene] - ClinVar

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Items: 67

	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 3160333	NM_006215.4(SERPINA4):c.70G>A (p.Val24Ile)	SERPINA4 (V24I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160325	NM_006215.4(SERPINA4):c.199G>T (p.Ala67Ser)	SERPINA4 (A104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527423	NM_006215.4(SERPINA4):c.199G>A (p.Ala67Thr)	SERPINA4 (A104T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268927	NM_006215.4(SERPINA4):c.235C>T (p.Pro79Ser)	SERPINA4 (P116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454228	NM_006215.4(SERPINA4):c.271C>A (p.Leu91Met)	SERPINA4 (L128M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160326	NM_006215.4(SERPINA4):c.293G>A (p.Arg98His)	SERPINA4 (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160327	NM_006215.4(SERPINA4):c.340G>C (p.Glu114Gln)	SERPINA4 (E151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160328	NM_006215.4(SERPINA4):c.343T>A (p.Ser115Thr)	SERPINA4 (S152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317549	NM_006215.4(SERPINA4):c.346G>T (p.Asp116Tyr)	SERPINA4 (D116Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605491	NM_006215.4(SERPINA4):c.359G>A (p.Gly120Asp)	SERPINA4 (G157D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160329	NM_006215.4(SERPINA4):c.386A>G (p.Asn129Ser)	SERPINA4 (N166S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204541	NM_006215.4(SERPINA4):c.410C>A (p.Thr137Lys)	SERPINA4 (T137K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787952	NM_006215.4(SERPINA4):c.412C>T (p.Arg138Cys)	SERPINA4 (R138C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254617	NM_006215.4(SERPINA4):c.415G>A (p.Val139Met)	SERPINA4 (V176M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317550	NM_006215.4(SERPINA4):c.419G>C (p.Gly140Ala)	SERPINA4 (G140A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338995	NM_006215.4(SERPINA4):c.451T>C (p.Phe151Leu)	SERPINA4 (F151L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273012	NM_006215.4(SERPINA4):c.470A>G (p.Asn157Ser)	SERPINA4 (N157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160330	NM_006215.4(SERPINA4):c.471T>A (p.Asn157Lys)	SERPINA4 (N194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277325	NM_006215.4(SERPINA4):c.475A>G (p.Thr159Ala)	SERPINA4 (T159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484853	NM_006215.4(SERPINA4):c.482C>A (p.Ala161Asp)	SERPINA4 (A198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218740	NM_006215.4(SERPINA4):c.497A>G (p.Lys166Arg)	SERPINA4 (K166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215543	NM_006215.4(SERPINA4):c.520G>A (p.Asp174Asn)	SERPINA4 (D174N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160332	NM_006215.4(SERPINA4):c.538C>G (p.Gln180Glu)	SERPINA4 (Q180E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605492	NM_006215.4(SERPINA4):c.711G>C (p.Glu237Asp)	SERPINA4 (E274D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317548	NM_006215.4(SERPINA4):c.724C>T (p.Arg242Trp)	SERPINA4 (R242W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160334	NM_006215.4(SERPINA4):c.799C>T (p.Arg267Trp)	SERPINA4 (R304W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588041	NM_006215.4(SERPINA4):c.800G>A (p.Arg267Gln)	SERPINA4 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317551	NM_006215.4(SERPINA4):c.892C>G (p.Leu298Val)	SERPINA4 (L335V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306631	NM_006215.4(SERPINA4):c.914T>G (p.Leu305Trp)	SERPINA4 (L305W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160335	NM_006215.4(SERPINA4):c.977C>T (p.Ser326Phe)	SERPINA4 (S363F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508754	NM_006215.4(SERPINA4):c.999G>C (p.Leu333Phe)	SERPINA4 (L370F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160321	NM_006215.4(SERPINA4):c.1016C>A (p.Thr339Lys)	SERPINA4 (T339K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226826	NM_006215.4(SERPINA4):c.1108G>A (p.Val370Met)	SERPINA4 (V407M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784484	NM_006215.4(SERPINA4):c.1116G>A (p.Glu372=)	SERPINA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3160322	NM_006215.4(SERPINA4):c.1175C>T (p.Thr392Ile)	SERPINA4 (T392I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160323	NM_006215.4(SERPINA4):c.1181G>T (p.Arg394Leu)	SERPINA4 (R394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392298	NM_006215.4(SERPINA4):c.1202G>A (p.Arg401Gln)	SERPINA4 (R438Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238883	NM_006215.4(SERPINA4):c.1229C>T (p.Thr410Ile)	SERPINA4 (T410I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246398	NM_006215.4(SERPINA4):c.1235C>A (p.Thr412Asn)	SERPINA4 (T412N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621784	NM_006215.4(SERPINA4):c.1241G>A (p.Ser414Asn)	SERPINA4 (S414N +1 more)	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 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: 67