ClinVar for Gene (Select 27324) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328142	NM_001080430.4(TOX3):c.1094A>G (p.His365Arg)	TOX3 (H360R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328141	NM_001080430.4(TOX3):c.584T>C (p.Met195Thr)	TOX3 (M195T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328139	NM_001080430.4(TOX3):c.1661C>G (p.Ser554Cys)	TOX3 (S549C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328138	NM_001080430.4(TOX3):c.249T>A (p.Asp83Glu)	TOX3 (D78E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328137	NM_001080430.4(TOX3):c.1499A>G (p.Gln500Arg)	TOX3 (Q500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328136	NM_001080430.4(TOX3):c.874A>G (p.Met292Val)	TOX3 (M287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3181361	NM_001080430.4(TOX3):c.494G>A (p.Arg165His)	TOX3 (R160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181360	NM_001080430.4(TOX3):c.1658C>T (p.Ala553Val)	TOX3 (A548V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181359	NM_001080430.4(TOX3):c.1538G>A (p.Arg513His)	TOX3 (R513H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181358	NM_001080430.4(TOX3):c.1368G>C (p.Met456Ile)	TOX3 (M451I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181357	NM_001080430.4(TOX3):c.12G>C (p.Arg4Ser)	TOX3 (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181356	NM_001080430.4(TOX3):c.1238C>A (p.Ala413Asp)	TOX3 (A413D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181355	NM_001080430.4(TOX3):c.1185C>A (p.Asn395Lys)	TOX3 (N390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608793	NM_001080430.4(TOX3):c.17A>G (p.Tyr6Cys)	TOX3 (Y6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607133	NM_001080430.4(TOX3):c.1226C>T (p.Ser409Leu)	TOX3 (S404L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559211	NM_001080430.4(TOX3):c.1523A>T (p.Gln508Leu)	TOX3 (Q508L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534694	NM_001080430.4(TOX3):c.43A>G (p.Ser15Gly)	TOX3 (S15G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526702	NM_001080430.4(TOX3):c.443A>G (p.Gln148Arg)	TOX3 (Q148R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520538	NM_001080430.4(TOX3):c.836A>T (p.Asn279Ile)	TOX3 (N274I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520319	NM_001080430.4(TOX3):c.1217A>G (p.Asn406Ser)	TOX3 (N406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520168	NM_001080430.4(TOX3):c.1676C>T (p.Ser559Leu)	TOX3 (S554L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513224	NM_001080430.4(TOX3):c.1526A>T (p.Gln509Leu)	TOX3 (Q504L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511243	NM_001080430.4(TOX3):c.1624T>A (p.Ser542Thr)	TOX3 (S537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481742	NM_001080430.4(TOX3):c.293A>G (p.Gln98Arg)	TOX3 (Q93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476069	NM_001080430.4(TOX3):c.1452C>A (p.His484Gln)	TOX3 (H479Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467585	NM_001080430.4(TOX3):c.1622C>G (p.Thr541Arg)	TOX3 (T541R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373972	NM_001080430.4(TOX3):c.1213G>A (p.Ala405Thr)	TOX3 (A400T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342714	NM_001080430.4(TOX3):c.464G>A (p.Arg155Gln)	TOX3 (R150Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338021	NM_001080430.4(TOX3):c.919A>G (p.Lys307Glu)	TOX3 (K302E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314693	NM_001080430.4(TOX3):c.1058C>T (p.Thr353Ile)	TOX3 (T348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296323	NM_001080430.4(TOX3):c.44G>T (p.Ser15Ile)	TOX3 (S15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265940	NM_001080430.4(TOX3):c.1710A>T (p.Leu570Phe)	TOX3 (L570F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262382	NM_001080430.4(TOX3):c.697G>C (p.Ala233Pro)	TOX3 (A228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218868	NM_001080430.4(TOX3):c.229C>T (p.Pro77Ser)	TOX3 (P72S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205316	NM_001080430.4(TOX3):c.1286C>T (p.Ser429Phe)	TOX3 (S424F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 791598	NM_001080430.4(TOX3):c.1537C>T (p.Arg513Cys)	TOX3 (R508C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777016	NM_001080430.4(TOX3):c.1149C>T (p.Ile383=)	TOX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717419	NM_001080430.4(TOX3):c.550G>A (p.Ala184Thr)	TOX3 (A179T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 226176	GRCh37/hg19 16q12.1-12.2(chr16:52464934-52676323)	TOX3	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 148728	GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1	AKTIP, CASC16 +42 more	Copy number loss	See cases	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 146164	GRCh38/hg38 16q12.1(chr16:51275229-52592217)x1	CASC16, CASC22 +21 more	Copy number loss	See cases	GUncertain significance
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 58