TAF5[gene] - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 2280135	NM_006951.5(TAF5):c.13G>A (p.Ala5Thr)	LOC111875818, TAF5 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173543	NM_006951.5(TAF5):c.26C>T (p.Thr9Met)	LOC111875818, TAF5 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466154	NM_006951.5(TAF5):c.215C>T (p.Ala72Val)	TAF5 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266504	NM_006951.5(TAF5):c.257C>T (p.Pro86Leu)	LOC130004634, TAF5 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462546	NM_006951.5(TAF5):c.263C>T (p.Ala88Val)	LOC130004634, TAF5 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248198	NM_006951.5(TAF5):c.314G>A (p.Arg105Gln)	LOC130004634, TAF5 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558712	NM_006951.5(TAF5):c.418G>A (p.Gly140Ser)	LOC130004634, TAF5 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173545	NM_006951.5(TAF5):c.428T>G (p.Val143Gly)	LOC130004634, TAF5 (V143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244407	NM_006951.5(TAF5):c.466C>T (p.Pro156Ser)	LOC130004634, TAF5 (P156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227787	NM_006951.5(TAF5):c.479C>T (p.Ala160Val)	LOC130004634, TAF5 (A160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375179	NM_006951.5(TAF5):c.550C>T (p.Pro184Ser)	LOC130004634, TAF5 (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173546	NM_006951.5(TAF5):c.847T>A (p.Ser283Thr)	TAF5 (S283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818167	NM_006951.5(TAF5):c.1226G>A (p.Ser409Asn)	TAF5 (S409N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3173535	NM_006951.5(TAF5):c.1296G>C (p.Leu432Phe)	TAF5 (L432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708795	NM_006951.5(TAF5):c.1428G>C (p.Val476=)	TAF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238821	NM_006951.5(TAF5):c.1433T>A (p.Val478Asp)	TAF5 (V478D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206264	NM_006951.5(TAF5):c.1508A>G (p.Lys503Arg)	TAF5 (K503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173536	NM_006951.5(TAF5):c.1514G>A (p.Arg505His)	TAF5 (R505H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299706	NM_006951.5(TAF5):c.1517G>A (p.Ser506Asn)	TAF5 (S506N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275334	NM_006951.5(TAF5):c.1621G>C (p.Gly541Arg)	TAF5 (G541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173537	NM_006951.5(TAF5):c.1636G>C (p.Val546Leu)	TAF5 (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384563	NM_006951.5(TAF5):c.1637T>C (p.Val546Ala)	TAF5 (V546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480603	NM_006951.5(TAF5):c.1658C>T (p.Pro553Leu)	TAF5 (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318826	NM_006951.5(TAF5):c.1669T>C (p.Tyr557His)	TAF5 (Y557H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545059	NM_006951.5(TAF5):c.1898C>T (p.Thr633Ile)	TAF5 (T578I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173538	NM_006951.5(TAF5):c.1940C>T (p.Ala647Val)	TAF5 (A592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315893	NM_006951.5(TAF5):c.1940C>G (p.Ala647Gly)	TAF5 (A592G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173539	NM_006951.5(TAF5):c.1966G>T (p.Val656Phe)	TAF5 (V656F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173540	NM_006951.5(TAF5):c.1976G>T (p.Gly659Val)	TAF5 (G604V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592787	NM_006951.5(TAF5):c.2019T>A (p.His673Gln)	TAF5 (H673Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476486	NM_006951.5(TAF5):c.2138C>T (p.Thr713Ile)	TAF5 (T658I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173541	NM_006951.5(TAF5):c.2207G>A (p.Arg736Gln)	TAF5 (R681Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173542	NM_006951.5(TAF5):c.2258C>A (p.Thr753Asn)	TAF5 (T698N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527600	GRCh37/hg19 10q24.33(chr10:105064606-105508469)	ATP5MK, CALHM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 979289	GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3	CALHM1, SH3PXD2A +9 more	Copy number gain	not provided	GUncertain significance
Select item 815375	GRCh37/hg19 10q24.33(chr10:104915576-105241844)x3	PDCD11, CALHM2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688068	GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3	ATP5MK, CALHM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394507	GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4	ATP5MK, CALHM1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	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

Search results

Items: 59