ClinVar for Gene (Select 9023) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143977	NM_003956.4(CH25H):c.815G>A (p.Arg272Gln)	CH25H (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143976	NM_003956.4(CH25H):c.710T>G (p.Val237Gly)	CH25H (V237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143975	NM_003956.4(CH25H):c.657C>A (p.Asn219Lys)	CH25H (N219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3063129	GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3	CH25H, IFIT1 +8 more	Copy number gain	not specified	GUncertain significance
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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2557007	NM_003956.4(CH25H):c.611A>G (p.His204Arg)	CH25H (H204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478770	NM_003956.4(CH25H):c.212A>G (p.Tyr71Cys)	CH25H (Y71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475853	NM_003956.4(CH25H):c.559A>G (p.Met187Val)	CH25H (M187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392387	NM_003956.4(CH25H):c.382A>T (p.Ile128Phe)	CH25H (I128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385110	NM_003956.4(CH25H):c.257C>T (p.Pro86Leu)	CH25H (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383980	NM_003956.4(CH25H):c.188C>G (p.Ser63Cys)	CH25H, LOC130004298 (S63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367778	NM_003956.4(CH25H):c.265G>A (p.Gly89Arg)	CH25H (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341087	NM_003956.4(CH25H):c.649G>A (p.Gly217Ser)	CH25H (G217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291635	NM_003956.4(CH25H):c.793C>T (p.Arg265Trp)	CH25H (R265W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279754	NM_003956.4(CH25H):c.215A>G (p.Lys72Arg)	CH25H (K72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271641	NM_003956.4(CH25H):c.287T>C (p.Val96Ala)	CH25H (V96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245454	NM_003956.4(CH25H):c.145G>A (p.Val49Met)	CH25H, LOC130004298 (V49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234942	NM_003956.4(CH25H):c.523A>G (p.Ser175Gly)	CH25H (S175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215832	NM_003956.4(CH25H):c.38G>T (p.Cys13Phe)	CH25H (C13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809032	GRCh37/hg19 10q23.31(chr10:90672265-91165763)x3	ACTA2, CH25H +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808949	GRCh37/hg19 10q23.31(chr10:90874051-91291188)x3	CH25H, IFIT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1443167	NC_000010.10:g.(?_90694970)_(91007415_?)dup	ACTA2, CH25H +3 more	Duplication	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832890	NC_000010.11:g.(?_88770845)_(89328078_?)del	ACTA2, ANKRD22 +9 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 831277	NC_000010.11:g.(?_88989499)_(89247668_?)del	LIPA, ACTA2 +3 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 689033	GRCh37/hg19 10q23.31(chr10:90961633-90977163)x1	CH25H, LIPA	Copy number loss	not provided	GUncertain significance
Select item 685475	GRCh37/hg19 10q23.31(chr10:90510448-91086868)x1	ACTA2, ANKRD22 +9 more	Copy number loss	not provided	GUncertain significance
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 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	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 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 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
Select item 152652	GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3	CH25H, IFIT1 +32 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 43