ClinVar for Gene (Select 5272) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	not provided	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 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 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 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 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 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 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 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 2656179	NM_004155.6(SERPINB9):c.843A>G (p.Glu281=)	SERPINB9, SERPINB9-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
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 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 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 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 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 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 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 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
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 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	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 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
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 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	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 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 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	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 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	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 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91