SERPINA9[gene] - ClinVar

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Items: 72

	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 3160361	NM_175739.4(SERPINA9):c.1250C>T (p.Ser417Phe)	SERPINA9 (S286F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555868	NM_175739.4(SERPINA9):c.1204A>G (p.Thr402Ala)	SERPINA9 (T271A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317571	NM_175739.4(SERPINA9):c.1168A>T (p.Asn390Tyr)	SERPINA9 (N290Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360796	NM_175739.4(SERPINA9):c.1133C>T (p.Ser378Leu)	SERPINA9 (S247L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160360	NM_175739.4(SERPINA9):c.1130G>A (p.Arg377Gln)	SERPINA9 (R246Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331442	NM_175739.4(SERPINA9):c.1115C>T (p.Thr372Ile)	SERPINA9 (T372I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317569	NM_175739.4(SERPINA9):c.1076T>C (p.Val359Ala)	SERPINA9 (V359A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616631	NM_175739.4(SERPINA9):c.1049A>C (p.Lys350Thr)	SERPINA9 (K219T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160359	NM_175739.4(SERPINA9):c.1042G>T (p.Val348Phe)	SERPINA9 (V217F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160357	NM_175739.4(SERPINA9):c.950A>G (p.Asn317Ser)	SERPINA9 (N317S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160369	NM_175739.4(SERPINA9):c.932C>T (p.Ser311Phe)	SERPINA9 (S211F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249353	NM_175739.4(SERPINA9):c.884G>C (p.Ser295Thr)	SERPINA9 (S215T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243356	NM_175739.4(SERPINA9):c.845T>G (p.Leu282Arg)	SERPINA9 (L151R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511218	NM_175739.4(SERPINA9):c.837G>C (p.Met279Ile)	SERPINA9 (M148I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473814	NM_175739.4(SERPINA9):c.781A>G (p.Met261Val)	SERPINA9 (M130V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529052	NM_175739.4(SERPINA9):c.779A>C (p.Gln260Pro)	SERPINA9 (Q160P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160368	NM_175739.4(SERPINA9):c.751G>A (p.Asp251Asn)	SERPINA9 (D151N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160367	NM_175739.4(SERPINA9):c.749T>C (p.Val250Ala)	SERPINA9 (V150A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381692	NM_175739.4(SERPINA9):c.720G>A (p.Met240Ile)	SERPINA9 (M109I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317575	NM_175739.4(SERPINA9):c.703G>T (p.Val235Leu)	SERPINA9 (V135L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259634	NM_175739.4(SERPINA9):c.662C>G (p.Thr221Arg)	SERPINA9 (T221R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218816	NM_175739.4(SERPINA9):c.636G>C (p.Trp212Cys)	SERPINA9 (W112C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317572	NM_175739.4(SERPINA9):c.610A>G (p.Asn204Asp)	SERPINA9 (N73D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238391	NM_175739.4(SERPINA9):c.593C>T (p.Thr198Met)	SERPINA9 (T67M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160366	NM_175739.4(SERPINA9):c.548C>T (p.Thr183Ile)	SERPINA9 (T103I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599076	NM_175739.4(SERPINA9):c.531C>G (p.Ser177Arg)	SERPINA9 (S177R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361466	NM_175739.4(SERPINA9):c.518C>A (p.Ala173Glu)	SERPINA9 (A173E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312822	NM_175739.4(SERPINA9):c.386C>G (p.Thr129Ser)	SERPINA9 (T49S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2644479	NM_175739.4(SERPINA9):c.371C>T (p.Pro124Leu)	SERPINA9 (P124L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3160364	NM_175739.4(SERPINA9):c.290G>A (p.Gly97Asp)	SERPINA9 (G17D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522058	NM_175739.4(SERPINA9):c.229A>T (p.Thr77Ser)	SERPINA9 (T77S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3160363	NM_175739.4(SERPINA9):c.223G>A (p.Val75Ile)	SERPINA9 (V75I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3317570	NM_175739.4(SERPINA9):c.200A>G (p.Asn67Ser)	SERPINA9 (N67S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472711	NM_175739.4(SERPINA9):c.194G>A (p.Ser65Asn)	SERPINA9 (S65N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482124	NM_175739.4(SERPINA9):c.190C>G (p.Pro64Ala)	SERPINA9 (P64A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317574	NM_175739.4(SERPINA9):c.174G>T (p.Arg58Ser)	SERPINA9 (R58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204342	NM_175739.4(SERPINA9):c.170G>A (p.Arg57His)	SERPINA9 (R57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214541	NM_175739.4(SERPINA9):c.169C>T (p.Arg57Cys)	SERPINA9 (R57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278402	NM_175739.4(SERPINA9):c.145A>C (p.Thr49Pro)	SERPINA9 (T49P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278401	NM_175739.4(SERPINA9):c.142A>C (p.Asn48His)	SERPINA9 (N48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317568	NM_175739.4(SERPINA9):c.95G>A (p.Arg32His)	SERPINA9 (R32H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2410262	NM_175739.4(SERPINA9):c.56A>G (p.Tyr19Cys)	SERPINA9 (Y19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160358	NM_175739.4(SERPINA9):c.47C>A (p.Ala16Asp)	SERPINA9 (A16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386233	NM_175739.4(SERPINA9):c.-8G>A	SERPINA9	Single nucleotide variant (5 prime UTR variant +1 more)	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

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Items: 72