3311[HGNC] - ClinVar

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Items: 89

	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 59496	GRCh38/hg38 6p25.3-25.2(chr6:1796838-2854327)x3	GMDS, GMDS-DT +28 more	Copy number gain	See cases	GUncertain significance
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 3317578	NM_030666.4(SERPINB1):c.970G>A (p.Val324Met)	SERPINB1 (V324M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304827	NM_030666.4(SERPINB1):c.877G>A (p.Val293Met)	SERPINB1 (V293M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317576	NM_030666.4(SERPINB1):c.869G>A (p.Arg290His)	SERPINB1 (R290H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792030	NM_030666.4(SERPINB1):c.868C>T (p.Arg290Cys)	SERPINB1 (R290C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2327310	NM_030666.4(SERPINB1):c.823A>G (p.Arg275Gly)	SERPINB1 (R275G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312664	NM_030666.4(SERPINB1):c.800T>C (p.Ile267Thr)	SERPINB1 (I267T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618404	NM_030666.4(SERPINB1):c.788A>C (p.Asn263Thr)	SERPINB1 (N263T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510017	NM_030666.4(SERPINB1):c.781C>T (p.Pro261Ser)	SERPINB1 (P261S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160373	NM_030666.4(SERPINB1):c.767A>G (p.His256Arg)	SERPINB1 (H256R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160372	NM_030666.4(SERPINB1):c.716A>C (p.Glu239Ala)	SERPINB1 (E239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317579	NM_030666.4(SERPINB1):c.698C>T (p.Pro233Leu)	SERPINB1 (P233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354714	NM_030666.4(SERPINB1):c.681C>G (p.Ser227Arg)	SERPINB1 (S227R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382632	NM_030666.4(SERPINB1):c.635T>A (p.Leu212His)	SERPINB1 (L212H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342831	NM_030666.4(SERPINB1):c.631G>A (p.Asp211Asn)	SERPINB1 (D211N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160371	NM_030666.4(SERPINB1):c.609A>C (p.Lys203Asn)	SERPINB1 (K203N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244118	NM_030666.4(SERPINB1):c.568-9A>T	SERPINB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160370	NM_030666.4(SERPINB1):c.542C>T (p.Thr181Met)	SERPINB1 (T181M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595722	NM_030666.4(SERPINB1):c.454A>G (p.Met152Val)	SERPINB1 (M152V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2219215	NM_030666.4(SERPINB1):c.449C>T (p.Ser150Leu)	SERPINB1 (S150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780117	NM_030666.4(SERPINB1):c.425-11dup	SERPINB1	Duplication (intron variant)	not provided	GBenign
Select item 2232765	NM_030666.4(SERPINB1):c.402G>C (p.Gln134His)	SERPINB1 (Q134H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317577	NM_030666.4(SERPINB1):c.340G>A (p.Ala114Thr)	SERPINB1 (A114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462617	NM_030666.4(SERPINB1):c.335A>G (p.Tyr112Cys)	SERPINB1 (Y112C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321041	NM_030666.4(SERPINB1):c.251A>G (p.Tyr84Cys)	SERPINB1 (Y84C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377962	NM_030666.4(SERPINB1):c.248C>T (p.Ser83Phe)	SERPINB1 (S83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786080	NM_030666.4(SERPINB1):c.245C>T (p.Ala82Val)	SERPINB1 (A82V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2380440	NM_030666.4(SERPINB1):c.238C>T (p.Arg80Cys)	SERPINB1 (R80C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402745	NM_030666.4(SERPINB1):c.235A>G (p.Lys79Glu)	SERPINB1 (K79E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353352	NM_030666.4(SERPINB1):c.137C>T (p.Thr46Ile)	SERPINB1 (T46I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776106	NM_030666.4(SERPINB1):c.39G>A (p.Leu13=)	SERPINB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2548654	NM_030666.4(SERPINB1):c.28C>A (p.Arg10Ser)	SERPINB1 (R10S)	Single nucleotide variant (missense 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 1808377	GRCh37/hg19 6p25.3-25.2(chr6:2162500-2864248)x3	GMDS, LINC01600 +3 more	Copy number gain	not provided	GUncertain significance
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: 89