ClinVar for Gene (Select 25911) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3273563	NM_015448.3(DPCD):c.224G>A (p.Gly75Glu)	DPCD (G75E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273562	NM_015448.3(DPCD):c.463G>A (p.Ala155Thr)	DPCD (A143T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273561	NM_015448.3(DPCD):c.403A>C (p.Lys135Gln)	DPCD (K146Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250370	NC_000010.10:g.103001852_103543913dup	BTRC, DPCD +4 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3250369	NC_000010.10:g.103012761_103546704dup	BTRC, DPCD +5 more	Duplication	Hypoplastic femurs and pelvis	GPathogenic
Select item 3245035	NC_000010.10:g.(?_103190082)_(103384587_?)dup	BTRC, DPCD +2 more	Duplication	not provided	GUncertain significance
Select item 3245034	NC_000010.10:g.(?_102987027)_(103454397_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244998	NC_000010.10:g.(?_102987027)_(103372254_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244997	NC_000010.10:g.(?_102987027)_(103436213_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3085421	NM_015448.3(DPCD):c.593G>A (p.Gly198Glu)	DPCD (G209E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085420	NM_015448.3(DPCD):c.590A>G (p.Asp197Gly)	DPCD (D208G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085419	NM_015448.3(DPCD):c.469C>A (p.Leu157Met)	DPCD (L168M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085418	NM_015448.3(DPCD):c.391A>C (p.Thr131Pro)	DPCD (T131P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085417	NM_015448.3(DPCD):c.325C>A (p.Leu109Ile)	DPCD (L120I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3063157	GRCh37/hg19 10q24.32(chr10:103197122-103601973)x3	BTRC, DPCD +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063128	GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063127	GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684618	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 2614460	NM_015448.3(DPCD):c.157C>A (p.Arg53Ser)	DPCD (R53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2460418	NM_015448.3(DPCD):c.63C>A (p.Asp21Glu)	DPCD, LOC130004559 (D21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458215	NM_015448.3(DPCD):c.284G>A (p.Arg95His)	DPCD (R106H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426705	NC_000010.10:g.(?_102987027)_(103384587_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 2412036	NM_015448.3(DPCD):c.96C>G (p.Asp32Glu)	DPCD (D32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387138	NM_015448.3(DPCD):c.374G>A (p.Arg125His)	DPCD (R125H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299405	NM_015448.3(DPCD):c.266C>G (p.Ala89Gly)	DPCD (A89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234084	NM_015448.3(DPCD):c.53T>C (p.Leu18Pro)	DPCD, LOC130004559 (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227125	NM_015448.3(DPCD):c.373C>T (p.Arg125Cys)	DPCD (R136C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807766	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103445585)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 1412304	NC_000010.10:g.(?_102987027)_(103530396_?)dup	BTRC, DPCD +4 more	Duplication	not provided	GUncertain significance
Select item 1233427	NM_015448.3(DPCD):c.467T>C (p.Leu156Ser)	DPCD (C170R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 979288	GRCh37/hg19 10q24.32(chr10:103132508-103348865)x3	POLL, BTRC +1 more	Copy number gain	not provided	GUncertain significance
Select item 815374	GRCh37/hg19 10q24.31-24.32(chr10:102925257-103401586)x3	POLL, BTRC +3 more	Copy number gain	not provided	GPathogenic
Select item 686411	GRCh37/hg19 10q24.32(chr10:103197122-103431579)x3	BTRC, DPCD +2 more	Copy number gain	not provided	GUncertain significance
Select item 686072	GRCh37/hg19 10q24.32(chr10:103362038-103392888)x3	DPCD, FBXW4	Copy number gain	not provided	GUncertain significance
Select item 635863	NC_000010.10:g.102928083_103377947dup	BTRC, DPCD +3 more	Duplication	Internal malformations	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 590885	Single allele	DPCD, BTRC +5 more	Duplication	Ectrodactyly	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 563720	GRCh37/hg19 10q24.32(chr10:103197122-103432125)x3	DPCD, BTRC +2 more	Copy number gain	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 443481	GRCh37/hg19 10q24.32(chr10:103197122-103431466)x3	BTRC, DPCD +2 more	Copy number gain	See cases	GUncertain significance
Select item 443365	GRCh37/hg19 10q24.31-24.32(chr10:102949737-103432420)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
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 443140	GRCh37/hg19 10q24.31-24.32(chr10:102949227-103482524)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 442901	GRCh37/hg19 10q24.32(chr10:103258861-103452974)x3	BTRC, DPCD +2 more	Copy number gain	See cases	GUncertain significance
Select item 442850	GRCh37/hg19 10q24.31-24.32(chr10:102947729-103488168)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
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 395169	GRCh37/hg19 10q24.32(chr10:103208804-103449273)x3	BTRC, DPCD +2 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 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 253692	GRCh37/hg19 10q24.32(chr10:103208804-103431259)x3	FBXW4, DPCD +2 more	Copy number gain	See cases	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155194	GRCh38/hg38 10q24.31-24.32(chr10:101177305-101719109)x3	BTRC, DPCD +28 more	Copy number gain	See cases	GPathogenic
Select item 154981	GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3	BTRC, DPCD +15 more	Copy number gain	See cases	GUncertain significance
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148343	GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3	BTRC, DPCD +27 more	Copy number gain	See cases	GPathogenic
Select item 148029	GRCh38/hg38 10q24.32(chr10:101492028-101682260)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 147527	GRCh38/hg38 10q24.32(chr10:101599084-101676484)x3	DPCD, FBXW4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 146868	GRCh38/hg38 10q24.32(chr10:101434986-101689541)x3	BTRC, DPCD +11 more	Copy number gain	See cases	GUncertain significance
Select item 91991	NM_015448.3(DPCD):c.11C>T (p.Thr4Met)	LOC130004559, DPCD (T4M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 59725	GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3	BTRC, DPCD +13 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58778	GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1	BTRC, DPCD +11 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

ClinVar

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Links from Gene

Items: 72