STOX1[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145589	GRCh38/hg38 10q21.3-22.1(chr10:68543815-68977524)x1	CCAR1, DDX21 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2255049	NM_152709.5(STOX1):c.38C>A (p.Ala13Glu)	LOC130003952, STOX1 (A13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303049	NM_152709.5(STOX1):c.71C>G (p.Ala24Gly)	LOC130003952, STOX1 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329789	NM_152709.5(STOX1):c.76G>A (p.Gly26Arg)	LOC130003952, STOX1 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334839	NM_152709.5(STOX1):c.103G>T (p.Ala35Ser)	LOC130003952, STOX1 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334840	NM_152709.5(STOX1):c.104C>T (p.Ala35Val)	LOC130003952, STOX1 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399935	NM_152709.5(STOX1):c.112C>T (p.Arg38Cys)	STOX1 (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374898	NM_152709.5(STOX1):c.134C>G (p.Ala45Gly)	STOX1 (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171514	NM_152709.5(STOX1):c.149A>C (p.Asn50Thr)	STOX1 (N50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171515	NM_152709.5(STOX1):c.160G>A (p.Ala54Thr)	STOX1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323382	NM_152709.5(STOX1):c.163C>G (p.Arg55Gly)	STOX1 (R55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640535	NM_152709.5(STOX1):c.178C>T (p.Leu60=)	STOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328435	NM_152709.5(STOX1):c.195G>C (p.Trp65Cys)	STOX1 (W65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171517	NM_152709.5(STOX1):c.203G>C (p.Arg68Pro)	STOX1 (R68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323383	NM_152709.5(STOX1):c.205G>A (p.Gly69Arg)	STOX1 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323387	NM_152709.5(STOX1):c.209T>C (p.Val70Ala)	STOX1 (V70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323380	NM_152709.5(STOX1):c.226C>A (p.Pro76Thr)	STOX1 (P76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525572	NM_152709.5(STOX1):c.245T>C (p.Val82Ala)	STOX1 (V82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640536	NM_152709.5(STOX1):c.310+204C>T	STOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2461561	NM_152709.5(STOX1):c.454C>T (p.His152Tyr)	STOX1 (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1719	NM_152709.5(STOX1):c.457T>C (p.Tyr153His)	STOX1 (Y153H)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 4	Grisk factor
Select item 2278749	NM_152709.5(STOX1):c.460C>T (p.Pro154Ser)	STOX1 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366168	NM_152709.5(STOX1):c.461C>T (p.Pro154Leu)	STOX1 (P154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171522	NM_152709.5(STOX1):c.479C>T (p.Ser160Leu)	STOX1 (S160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323381	NM_152709.5(STOX1):c.509C>T (p.Thr170Met)	STOX1 (T170M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171523	NM_152709.5(STOX1):c.536A>C (p.His179Pro)	STOX1 (H179P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717159	NM_152709.5(STOX1):c.563C>A (p.Thr188Asn)	STOX1 (T188N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3171524	NM_152709.5(STOX1):c.565C>T (p.Pro189Ser)	STOX1 (P189S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617028	NM_152709.5(STOX1):c.602A>G (p.Glu201Gly)	STOX1 (E201G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617417	NM_152709.5(STOX1):c.608A>G (p.Lys203Arg)	STOX1 (K203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487929	NM_152709.5(STOX1):c.670A>G (p.Met224Val)	STOX1 (M224V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2343001	NM_152709.5(STOX1):c.742C>T (p.Arg248Trp)	STOX1 (R248W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612199	NM_152709.5(STOX1):c.748A>C (p.Met250Leu)	STOX1 (M250L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049382	NM_152709.5(STOX1):c.748A>G (p.Met250Val)	STOX1 (M250V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3040924	NM_152709.5(STOX1):c.777A>G (p.Pro259=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	STOX1-related disorder	GLikely benign
Select item 2203808	NM_152709.5(STOX1):c.799A>C (p.Lys267Gln)	STOX1 (K267Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541361	NM_152709.5(STOX1):c.806A>C (p.His269Pro)	STOX1 (H269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171525	NM_152709.5(STOX1):c.830C>G (p.Ser277Cys)	STOX1 (S277C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171526	NM_152709.5(STOX1):c.872A>G (p.His291Arg)	STOX1 (H291R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171527	NM_152709.5(STOX1):c.904A>G (p.Thr302Ala)	STOX1 (T302A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045568	NM_152709.5(STOX1):c.923G>C (p.Gly308Ala)	STOX1 (G308A)	Single nucleotide variant (missense variant +1 more)	STOX1-related disorder	GLikely benign
Select item 3171528	NM_152709.5(STOX1):c.970G>A (p.Glu324Lys)	STOX1 (E324K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171511	NM_152709.5(STOX1):c.1034G>A (p.Arg345Gln)	STOX1 (R345Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171513	NM_152709.5(STOX1):c.1064G>A (p.Arg355Gln)	STOX1 (R355Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207460	NM_152709.5(STOX1):c.1082T>C (p.Ile361Thr)	STOX1 (I361T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383656	NM_152709.5(STOX1):c.1143G>A (p.Met381Ile)	STOX1 (M381I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406467	NM_152709.5(STOX1):c.1207G>A (p.Gly403Arg)	STOX1 (G403R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300857	NM_152709.5(STOX1):c.1267C>G (p.Gln423Glu)	STOX1 (Q423E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323386	NM_152709.5(STOX1):c.1556T>C (p.Leu519Pro)	STOX1 (L519P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640537	NM_152709.5(STOX1):c.1744C>T (p.Leu582Phe)	STOX1 (L582F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2591687	NM_152709.5(STOX1):c.1764G>T (p.Gln588His)	STOX1 (Q588H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521858	NM_152709.5(STOX1):c.1776A>C (p.Gln592His)	STOX1 (Q592H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1720	NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp)	STOX1 (E608D)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2305065	NM_152709.5(STOX1):c.1852C>T (p.Pro618Ser)	STOX1 (P618S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454596	NM_152709.5(STOX1):c.1883T>G (p.Phe628Cys)	STOX1 (F628C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228155	NM_152709.5(STOX1):c.1897G>A (p.Glu633Lys)	STOX1 (E633K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331188	NM_152709.5(STOX1):c.1899G>C (p.Glu633Asp)	STOX1 (E633D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640538	NM_152709.5(STOX1):c.1902C>G (p.Thr634=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600041	NM_152709.5(STOX1):c.2011C>G (p.Leu671Val)	STOX1 (L671V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171516	NM_152709.5(STOX1):c.2032G>A (p.Val678Met)	STOX1 (V678M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259693	NM_152709.5(STOX1):c.2058A>T (p.Arg686Ser)	STOX1 (R686S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476301	NM_152709.5(STOX1):c.2093G>A (p.Gly698Glu)	STOX1 (G698E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171518	NM_152709.5(STOX1):c.2129A>G (p.Asn710Ser)	STOX1 (N710S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058866	NM_152709.5(STOX1):c.2145C>T (p.Asn715=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	STOX1-related disorder	GBenign
Select item 3171519	NM_152709.5(STOX1):c.2246G>A (p.Arg749His)	STOX1 (R749H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329038	NM_152709.5(STOX1):c.2266A>G (p.Ser756Gly)	STOX1 (S756G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045434	NM_152709.5(STOX1):c.2280C>T (p.Phe760=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	STOX1-related disorder	GLikely benign
Select item 2640539	NM_152709.5(STOX1):c.2322G>A (p.Val774=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2559636	NM_152709.5(STOX1):c.2356A>G (p.Met786Val)	STOX1 (M786V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171520	NM_152709.5(STOX1):c.2396G>C (p.Cys799Ser)	STOX1 (C799S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717160	NM_152709.5(STOX1):c.2502C>T (p.Tyr834=)	STOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3171521	NM_152709.5(STOX1):c.2563T>C (p.Phe855Leu)	STOX1 (F855L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458309	NM_152709.5(STOX1):c.2804G>A (p.Ser935Asn)	STOX1 (S935N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323384	NM_152709.5(STOX1):c.2858T>G (p.Leu953Trp)	STOX1 (W167G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323385	NM_152709.5(STOX1):c.2912G>A (p.Ser971Asn)	STOX1 (S971N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2355662	NM_152709.5(STOX1):c.2945C>T (p.Pro982Leu)	STOX1 (P982L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	HKDC1, DNAJC12 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
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 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393854	GRCh37/hg19 10q21.3-22.1(chr10:70525750-70775715)x3	CCAR1, DDX21 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 94