SERPINB9[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 2521629	NM_004155.6(SERPINB9):c.1081C>T (p.His361Tyr)	SERPINB9, SERPINB9-AS1 (H361Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295331	NM_004155.6(SERPINB9):c.1079G>A (p.Arg360Lys)	SERPINB9, SERPINB9-AS1 (R360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525042	NM_004155.6(SERPINB9):c.1039C>T (p.Pro347Ser)	SERPINB9, SERPINB9-AS1 (P347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160462	NM_004155.6(SERPINB9):c.998C>T (p.Ser333Leu)	SERPINB9, SERPINB9-AS1 (S333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398394	NM_004155.6(SERPINB9):c.985G>A (p.Ala329Thr)	SERPINB9, SERPINB9-AS1 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480737	NM_004155.6(SERPINB9):c.965T>C (p.Val322Ala)	SERPINB9, SERPINB9-AS1 (V322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160461	NM_004155.6(SERPINB9):c.914C>T (p.Ala305Val)	SERPINB9, SERPINB9-AS1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317247	NM_004155.6(SERPINB9):c.902C>T (p.Ser301Leu)	SERPINB9, SERPINB9-AS1 (S301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160460	NM_004155.6(SERPINB9):c.889A>G (p.Lys297Glu)	SERPINB9, SERPINB9-AS1 (K297E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656179	NM_004155.6(SERPINB9):c.843A>G (p.Glu281=)	SERPINB9, SERPINB9-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160458	NM_004155.6(SERPINB9):c.794T>C (p.Val265Ala)	SERPINB9, SERPINB9-AS1 (V265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363889	NM_004155.6(SERPINB9):c.758C>T (p.Ala253Val)	SERPINB9, SERPINB9-AS1 (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601548	NM_004155.6(SERPINB9):c.740C>G (p.Thr247Ser)	SERPINB9, SERPINB9-AS1 (T247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160457	NM_004155.6(SERPINB9):c.669G>T (p.Arg223Ser)	SERPINB9, SERPINB9-AS1 (R223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481452	NM_004155.6(SERPINB9):c.637C>T (p.Arg213Cys)	SERPINB9, SERPINB9-AS1 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291199	NM_004155.6(SERPINB9):c.550C>T (p.Pro184Ser)	SERPINB9, SERPINB9-AS1 (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160456	NM_004155.6(SERPINB9):c.510G>C (p.Lys170Asn)	SERPINB9, SERPINB9-AS1 (K170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377563	NM_004155.6(SERPINB9):c.469A>G (p.Thr157Ala)	SERPINB9, SERPINB9-AS1 (T157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367464	NM_004155.6(SERPINB9):c.458T>C (p.Ile153Thr)	SERPINB9, SERPINB9-AS1 (I153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205235	NM_004155.6(SERPINB9):c.458T>A (p.Ile153Asn)	SERPINB9, SERPINB9-AS1 (I153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537334	NM_004155.6(SERPINB9):c.446C>T (p.Pro149Leu)	SERPINB9, SERPINB9-AS1 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317616	NM_004155.6(SERPINB9):c.413A>G (p.Lys138Arg)	SERPINB9, SERPINB9-AS1 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345280	NM_004155.6(SERPINB9):c.373G>T (p.Ala125Ser)	SERPINB9, SERPINB9-AS1 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519297	NM_004155.6(SERPINB9):c.335A>G (p.Tyr112Cys)	SERPINB9, SERPINB9-AS1 (Y112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375393	NM_004155.6(SERPINB9):c.308C>T (p.Thr103Met)	SERPINB9, SERPINB9-AS1 (T103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265369	NM_004155.6(SERPINB9):c.281G>T (p.Gly94Val)	SERPINB9, SERPINB9-AS1 (G94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364481	NM_004155.6(SERPINB9):c.274C>T (p.Leu92Phe)	SERPINB9, SERPINB9-AS1 (L92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356026	NM_004155.6(SERPINB9):c.263C>T (p.Thr88Met)	SERPINB9, SERPINB9-AS1 (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241164	NM_004155.6(SERPINB9):c.230T>C (p.Val77Ala)	SERPINB9, SERPINB9-AS1 (V77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620736	NM_004155.6(SERPINB9):c.215C>T (p.Ser72Leu)	SERPINB9, SERPINB9-AS1 (S72L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160454	NM_004155.6(SERPINB9):c.162G>A (p.Met54Ile)	SERPINB9, SERPINB9-AS1 (M54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160453	NM_004155.6(SERPINB9):c.104T>A (p.Ile35Asn)	SERPINB9, SERPINB9-AS1 (I35N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294487	NM_004155.6(SERPINB9):c.73T>G (p.Ser25Ala)	SERPINB9, SERPINB9-AS1 (S25A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258480	NM_004155.6(SERPINB9):c.40C>T (p.Arg14Cys)	SERPINB9, SERPINB9-AS1 (R14C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	not provided	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 1023045	NC_000006.11:g.(?_2833842)_(3227777_?)dup	BPHL, NQO2 +6 more	Duplication	not provided	GUncertain significance
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 more	Copy number loss	See cases	GPathogenic
Select item 441731	GRCh37/hg19 6p25.3-25.2(chr6:2209050-3009366)x3	GMDS, LINC01600 +6 more	Copy number gain	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic

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Items: 91