QSOX1[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 145463	GRCh38/hg38 1q25.2(chr1:180062186-180251588)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154520	GRCh38/hg38 1q25.2(chr1:180062193-180248477)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 150649	GRCh38/hg38 1q25.2(chr1:180062193-180251550)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GLikely benign
Select item 2546510	NM_002826.5(QSOX1):c.8G>A (p.Arg3Lys)	QSOX1 (R3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266984	NM_002826.5(QSOX1):c.31C>T (p.Pro11Ser)	QSOX1 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211976	NM_002826.5(QSOX1):c.35C>T (p.Pro12Leu)	QSOX1 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595593	NM_002826.5(QSOX1):c.68C>T (p.Ala23Val)	QSOX1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150429	NM_002826.5(QSOX1):c.91C>T (p.Pro31Ser)	QSOX1 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460748	NM_002826.5(QSOX1):c.94C>T (p.Arg32Trp)	QSOX1 (R32W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366031	NM_002826.5(QSOX1):c.121C>A (p.Pro41Thr)	QSOX1 (P41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555865	NM_002826.5(QSOX1):c.146C>A (p.Thr49Lys)	LOC129932006, QSOX1 (T49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150424	NM_002826.5(QSOX1):c.251C>A (p.Ala84Asp)	QSOX1 (A84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291348	NM_002826.5(QSOX1):c.284A>G (p.Tyr95Cys)	QSOX1 (Y95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368673	NM_002826.5(QSOX1):c.292G>A (p.Ala98Thr)	QSOX1 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150425	NM_002826.5(QSOX1):c.312G>C (p.Glu104Asp)	QSOX1 (E104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306806	NM_002826.5(QSOX1):c.323C>T (p.Ala108Val)	QSOX1 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780282	NM_002826.5(QSOX1):c.341A>G (p.Asn114Ser)	QSOX1 (N114S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639600	NM_002826.5(QSOX1):c.381T>C (p.Phe127=)	QSOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475360	NM_002826.5(QSOX1):c.391G>A (p.Gly131Ser)	QSOX1 (G131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454530	NM_002826.5(QSOX1):c.479C>T (p.Thr160Met)	QSOX1 (T160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511168	NM_002826.5(QSOX1):c.499C>T (p.Pro167Ser)	QSOX1 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747248	NM_002826.5(QSOX1):c.516-7C>T	QSOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3150426	NM_002826.5(QSOX1):c.548A>G (p.Asn183Ser)	QSOX1 (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345889	NM_002826.5(QSOX1):c.581A>C (p.Lys194Thr)	QSOX1 (K194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355169	NM_002826.5(QSOX1):c.647G>A (p.Arg216His)	QSOX1 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150427	NM_002826.5(QSOX1):c.671A>G (p.Asn224Ser)	QSOX1 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609719	NM_002826.5(QSOX1):c.770C>T (p.Ser257Phe)	QSOX1 (S257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150428	NM_002826.5(QSOX1):c.772T>C (p.Phe258Leu)	QSOX1 (F258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621187	NM_002826.5(QSOX1):c.776A>G (p.Tyr259Cys)	QSOX1 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356612	NM_002826.5(QSOX1):c.836C>G (p.Ala279Gly)	QSOX1 (A279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211286	NM_002826.5(QSOX1):c.959C>T (p.Pro320Leu)	QSOX1 (P320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773117	NM_002826.5(QSOX1):c.1017+6C>A	QSOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3150414	NM_002826.5(QSOX1):c.1071G>T (p.Trp357Cys)	QSOX1 (W357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791824	NM_002826.5(QSOX1):c.1194G>A (p.Pro398=)	QSOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746984	NM_002826.5(QSOX1):c.1221G>A (p.Leu407=)	QSOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639601	NM_002826.5(QSOX1):c.1326C>T (p.Tyr442=)	QSOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558324	NM_002826.5(QSOX1):c.1377G>A (p.Met459Ile)	QSOX1 (M459I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558223	NM_002826.5(QSOX1):c.1397G>A (p.Arg466Gln)	QSOX1 (R466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461532	NM_002826.5(QSOX1):c.1399G>A (p.Val467Met)	QSOX1 (V467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150415	NM_002826.5(QSOX1):c.1400T>A (p.Val467Glu)	QSOX1 (V467E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527597	NM_002826.5(QSOX1):c.1417G>T (p.Ala473Ser)	QSOX1 (A473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709336	NM_002826.5(QSOX1):c.1469-10C>T	QSOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299901	NM_002826.5(QSOX1):c.1517G>T (p.Arg506Leu)	QSOX1 (R506L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276639	NM_002826.5(QSOX1):c.1561G>A (p.Val521Met)	QSOX1 (V521M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227599	NM_002826.5(QSOX1):c.1619T>A (p.Ile540Asn)	QSOX1 (I540N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310141	NM_002826.5(QSOX1):c.1633C>G (p.Pro545Ala)	QSOX1 (P545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150417	NM_002826.5(QSOX1):c.1676C>T (p.Ala559Val)	QSOX1 (A559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150418	NM_002826.5(QSOX1):c.1720C>T (p.Arg574Trp)	QSOX1 (R574W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205573	NM_002826.5(QSOX1):c.1729A>G (p.Thr577Ala)	QSOX1 (T577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150419	NM_002826.5(QSOX1):c.1738C>T (p.Pro580Ser)	QSOX1 (P580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480312	NM_002826.5(QSOX1):c.1750G>A (p.Glu584Lys)	QSOX1 (E584K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150420	NM_002826.5(QSOX1):c.1781C>G (p.Pro594Arg)	QSOX1 (P594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787860	NM_002826.5(QSOX1):c.1790C>T (p.Pro597Leu)	QSOX1 (P597L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780283	NM_002826.5(QSOX1):c.1814G>C (p.Arg605Pro)	QSOX1 (R605P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3150421	NM_002826.5(QSOX1):c.1844C>T (p.Ala615Val)	QSOX1 (A615V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150422	NM_002826.5(QSOX1):c.1907C>T (p.Pro636Leu)	QSOX1 (P636L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323670	NM_002826.5(QSOX1):c.1943G>A (p.Gly648Glu)	QSOX1 (G648E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359944	NM_002826.5(QSOX1):c.1945G>T (p.Ala649Ser)	QSOX1 (A649S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720745	NM_002826.5(QSOX1):c.2019C>A (p.Arg673=)	QSOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3150423	NM_002826.5(QSOX1):c.2208G>C (p.Arg736Ser)	QSOX1 (R736S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313405	NM_002826.5(QSOX1):c.2212C>G (p.Leu738Val)	QSOX1 (L738V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216700	NM_002826.5(QSOX1):c.2222A>G (p.His741Arg)	QSOX1 (H741R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685834	GRCh37/hg19 1q25.2-25.3(chr1:180119141-180321486)x3	ACBD6, LHX4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685833	GRCh37/hg19 1q25.2(chr1:180023361-180214151)x3	CEP350, LHX4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 94