ClinVar for Gene (Select 83860) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173499	NM_031923.4(TAF3):c.964A>G (p.Lys322Glu)	TAF3 (K322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173498	NM_031923.4(TAF3):c.865G>A (p.Ala289Thr)	TAF3 (A289T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173497	NM_031923.4(TAF3):c.2763C>A (p.His921Gln)	TAF3 (H921Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173495	NM_031923.4(TAF3):c.2261C>G (p.Pro754Arg)	TAF3 (P754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173494	NM_031923.4(TAF3):c.2189G>A (p.Arg730Gln)	TAF3 (R730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173493	NM_031923.4(TAF3):c.1933G>A (p.Asp645Asn)	TAF3 (D645N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173492	NM_031923.4(TAF3):c.1877G>C (p.Gly626Ala)	TAF3 (G626A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173491	NM_031923.4(TAF3):c.1787A>C (p.Glu596Ala)	TAF3 (E596A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173490	NM_031923.4(TAF3):c.1689G>C (p.Glu563Asp)	TAF3 (E563D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173489	NM_031923.4(TAF3):c.1319C>T (p.Ala440Val)	TAF3 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173488	NM_031923.4(TAF3):c.1096C>A (p.Pro366Thr)	TAF3 (P366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 2684594	GRCh37/hg19 10p14(chr10:7859107-8088554)x3	TAF3	Copy number gain	not provided	GUncertain significance
Select item 2613927	NM_031923.4(TAF3):c.2339C>T (p.Ala780Val)	TAF3 (A780V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605856	NM_031923.4(TAF3):c.2048C>T (p.Pro683Leu)	TAF3 (P683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595291	NM_031923.4(TAF3):c.1403C>A (p.Ala468Asp)	TAF3 (A468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559383	NM_031923.4(TAF3):c.2084A>G (p.Lys695Arg)	TAF3 (K695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558711	NM_031923.4(TAF3):c.523T>A (p.Phe175Ile)	TAF3 (F175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552957	NM_031923.4(TAF3):c.1253A>G (p.Asp418Gly)	TAF3 (D418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552286	NM_031923.4(TAF3):c.881T>C (p.Met294Thr)	TAF3 (M294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543058	NM_031923.4(TAF3):c.838G>A (p.Gly280Arg)	TAF3 (G280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536165	NM_031923.4(TAF3):c.2404G>A (p.Ala802Thr)	TAF3 (A802T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482810	NM_031923.4(TAF3):c.2220C>G (p.His740Gln)	TAF3 (H740Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482654	NM_031923.4(TAF3):c.1126C>G (p.Gln376Glu)	TAF3 (Q376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478349	NM_031923.4(TAF3):c.1627G>C (p.Glu543Gln)	TAF3 (E543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470145	NM_031923.4(TAF3):c.139C>T (p.Arg47Trp)	TAF3 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375152	NM_031923.4(TAF3):c.941G>A (p.Arg314His)	TAF3 (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355749	NM_031923.4(TAF3):c.2738C>T (p.Ala913Val)	TAF3 (A913V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341267	NM_031923.4(TAF3):c.373C>T (p.Pro125Ser)	TAF3 (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317653	NM_031923.4(TAF3):c.2346G>C (p.Glu782Asp)	TAF3 (E782D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310197	NM_031923.4(TAF3):c.1402G>A (p.Ala468Thr)	TAF3 (A468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307587	NM_031923.4(TAF3):c.486T>G (p.Asp162Glu)	TAF3 (D162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300981	NM_031923.4(TAF3):c.2495G>T (p.Gly832Val)	TAF3 (G832V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273108	NM_031923.4(TAF3):c.1324A>T (p.Asn442Tyr)	TAF3 (N442Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254714	NM_031923.4(TAF3):c.2112C>A (p.Asp704Glu)	TAF3 (D704E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252893	NM_031923.4(TAF3):c.2418G>A (p.Met806Ile)	TAF3 (M806I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247859	NM_031923.4(TAF3):c.601A>G (p.Lys201Glu)	TAF3 (K201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237078	NM_031923.4(TAF3):c.400T>G (p.Ser134Ala)	TAF3 (S134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231557	NM_031923.4(TAF3):c.980C>T (p.Thr327Met)	TAF3 (T327M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215859	NM_031923.4(TAF3):c.1633G>C (p.Glu545Gln)	TAF3 (E545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209122	NM_031923.4(TAF3):c.2054T>G (p.Leu685Arg)	TAF3 (L685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205839	NM_031923.4(TAF3):c.2354C>T (p.Pro785Leu)	TAF3 (P785L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527579	GRCh37/hg19 10p14(chr10:8046788-9979612)	GATA3, TAF3	Copy number loss	not specified	GPathogenic
Select item 1527578	GRCh37/hg19 10p14(chr10:7943586-8120292)	GATA3, TAF3	Copy number loss	not specified	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 785305	NM_031923.4(TAF3):c.988A>T (p.Ile330Phe)	TAF3 (I330F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784157	NM_031923.4(TAF3):c.2487C>T (p.Pro829=)	TAF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778458	NM_031923.4(TAF3):c.1071C>T (p.Ile357=)	TAF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686099	GRCh37/hg19 10p14(chr10:8011156-9996086)x1	GATA3, TAF3	Copy number loss	not provided	GPathogenic
Select item 686098	GRCh37/hg19 10p14(chr10:7663004-7922532)x1	ATP5F1C, ITIH2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563697	GRCh37/hg19 10p14(chr10:7837730-7904170)x1	TAF3, ATP5F1C	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	AKR1E2, ADARB2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 394756	GRCh37/hg19 10p14(chr10:7377293-9129131)x1	ATP5F1C, GATA3 +5 more	Copy number loss	See cases	GPathogenic
Select item 394654	GRCh37/hg19 10p14(chr10:8056289-8118665)x3	GATA3, TAF3	Copy number gain	See cases	GLikely pathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	LINC02645, LINC02648 +496 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC124403900, LOC124403901 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC132089789, LOC132089790 +421 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79