23517[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
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 2310192	NM_032709.3(PYROXD2):c.1726A>G (p.Arg576Gly)	PYROXD2 (R576G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599565	NM_032709.3(PYROXD2):c.1616A>G (p.His539Arg)	PYROXD2 (H539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248412	NM_032709.3(PYROXD2):c.1607T>C (p.Val536Ala)	PYROXD2 (V536A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270916	NM_032709.3(PYROXD2):c.1575G>A (p.Met525Ile)	PYROXD2 (M525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591858	NM_032709.3(PYROXD2):c.1574T>C (p.Met525Thr)	PYROXD2 (M525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220533	NM_032709.3(PYROXD2):c.1570G>A (p.Ala524Thr)	PYROXD2 (A524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320766	NM_032709.3(PYROXD2):c.1505A>G (p.Asp502Gly)	PYROXD2 (D502G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150250	NM_032709.3(PYROXD2):c.1499G>A (p.Gly500Asp)	PYROXD2 (G500D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333040	NM_032709.3(PYROXD2):c.1487A>T (p.Asp496Val)	PYROXD2 (D496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333039	NM_032709.3(PYROXD2):c.1486G>C (p.Asp496His)	PYROXD2 (D496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220757	NM_032709.3(PYROXD2):c.1425G>T (p.Glu475Asp)	PYROXD2 (E475D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150249	NM_032709.3(PYROXD2):c.1384C>G (p.Pro462Ala)	PYROXD2 (P462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401586	NM_032709.3(PYROXD2):c.1360G>A (p.Val454Ile)	PYROXD2 (V454I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314423	NM_032709.3(PYROXD2):c.1295C>G (p.Pro432Arg)	PYROXD2 (P432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640743	NM_032709.3(PYROXD2):c.1279C>G (p.Leu427Val)	PYROXD2 (L427V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338488	NM_032709.3(PYROXD2):c.1250A>C (p.His417Pro)	PYROXD2 (H417P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150246	NM_032709.3(PYROXD2):c.1249C>T (p.His417Tyr)	PYROXD2 (H417Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238502	NM_032709.3(PYROXD2):c.1234G>A (p.Asp412Asn)	PYROXD2 (D412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294746	NM_032709.3(PYROXD2):c.1205A>G (p.His402Arg)	PYROXD2 (H402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362514	NM_032709.3(PYROXD2):c.1166C>T (p.Ala389Val)	PYROXD2 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150245	NM_032709.3(PYROXD2):c.1153C>T (p.Pro385Ser)	PYROXD2 (P385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150244	NM_032709.3(PYROXD2):c.1111C>T (p.Arg371Trp)	PYROXD2 (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500901	NM_032709.3(PYROXD2):c.1062+2T>G	PYROXD2	Single nucleotide variant (splice donor variant)	Leigh syndrome	GUncertain significance
Select item 2320925	NM_032709.3(PYROXD2):c.1055C>T (p.Thr352Met)	PYROXD2 (T352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246309	NM_032709.3(PYROXD2):c.1022A>G (p.Asn341Ser)	PYROXD2 (N341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150258	NM_032709.3(PYROXD2):c.964G>C (p.Val322Leu)	PYROXD2 (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362515	NM_032709.3(PYROXD2):c.911G>T (p.Ser304Ile)	PYROXD2 (S304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150257	NM_032709.3(PYROXD2):c.907G>T (p.Ala303Ser)	PYROXD2 (A303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395840	NM_032709.3(PYROXD2):c.878C>T (p.Ala293Val)	PYROXD2 (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387708	NM_032709.3(PYROXD2):c.838T>C (p.Trp280Arg)	PYROXD2 (W280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614694	NM_032709.3(PYROXD2):c.802C>T (p.His268Tyr)	PYROXD2 (H268Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482885	NM_032709.3(PYROXD2):c.782G>T (p.Ser261Ile)	PYROXD2 (S261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558696	NM_032709.3(PYROXD2):c.720A>C (p.Leu240Phe)	MIR1287, PYROXD2 (L240F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150256	NM_032709.3(PYROXD2):c.716C>T (p.Pro239Leu)	MIR1287, PYROXD2 (P239L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2491064	NM_032709.3(PYROXD2):c.714G>T (p.Glu238Asp)	MIR1287, PYROXD2 (E238D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150254	NM_032709.3(PYROXD2):c.631A>G (p.Ile211Val)	PYROXD2 (I211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403282	NM_032709.3(PYROXD2):c.536C>T (p.Ala179Val)	PYROXD2 (A179V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150253	NM_032709.3(PYROXD2):c.469C>G (p.Gln157Glu)	PYROXD2 (Q157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241869	NM_032709.3(PYROXD2):c.440A>C (p.Gln147Pro)	PYROXD2 (Q147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391532	NM_032709.3(PYROXD2):c.361C>G (p.Pro121Ala)	PYROXD2 (P121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322176	NM_032709.3(PYROXD2):c.359C>G (p.Thr120Ser)	PYROXD2 (T120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150252	NM_032709.3(PYROXD2):c.320A>G (p.His107Arg)	PYROXD2 (H107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371551	NM_032709.3(PYROXD2):c.290A>C (p.Gln97Pro)	PYROXD2 (Q97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623617	NM_032709.3(PYROXD2):c.283A>T (p.Arg95Trp)	PYROXD2 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340744	NM_032709.3(PYROXD2):c.226G>A (p.Glu76Lys)	PYROXD2 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150251	NM_032709.3(PYROXD2):c.212G>A (p.Gly71Asp)	PYROXD2 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553930	NM_032709.3(PYROXD2):c.161A>C (p.Gln54Pro)	PYROXD2 (Q54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528648	NM_032709.3(PYROXD2):c.136G>A (p.Gly46Arg)	PYROXD2 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150247	NM_032709.3(PYROXD2):c.124G>C (p.Ala42Pro)	HPS1, PYROXD2 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463407	NM_032709.3(PYROXD2):c.112G>A (p.Val38Met)	HPS1, PYROXD2 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150255	NM_032709.3(PYROXD2):c.65G>A (p.Arg22Gln)	HPS1, PYROXD2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457473	NM_032709.3(PYROXD2):c.14G>C (p.Gly5Ala)	HPS1, PYROXD2 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
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 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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 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 979285	GRCh37/hg19 10q24.2(chr10:100015920-100234444)x1	HPS1, LOXL4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815372	GRCh37/hg19 10q24.2(chr10:100138329-100488874)x3	PYROXD2, HPS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688571	GRCh37/hg19 10q24.2(chr10:100067156-100257755)x1	HPS1, HPSE2 +1 more	Copy number loss	not provided	GPathogenic
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 563729	GRCh37/hg19 10q24.2(chr10:99923079-100191207)x1	PYROXD2, LOXL4 +2 more	Copy number loss	not provided	GUncertain significance
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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
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

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Items: 72