ClinVar for Gene (Select 27343) - ClinVar - NCBI

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	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 3308484	NM_001174084.2(POLL):c.1392A>C (p.Gln464His)	POLL (Q372H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308483	NM_001174084.2(POLL):c.241A>T (p.Thr81Ser)	POLL (T81S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308481	NM_001174084.2(POLL):c.731C>A (p.Pro244His)	POLL (P244H)	Single nucleotide variant (missense variant +2 more)	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 3216376	NM_001174084.2(POLL):c.990G>C (p.Glu330Asp)	POLL (E330D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216375	NM_001174084.2(POLL):c.940A>G (p.Ile314Val)	POLL (I314V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216374	NM_001174084.2(POLL):c.923G>A (p.Arg308Gln)	POLL (R216Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216373	NM_001174084.2(POLL):c.352T>C (p.Cys118Arg)	POLL (C118R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216372	NM_001174084.2(POLL):c.280G>A (p.Ala94Thr)	POLL (A94T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216371	NM_001174084.2(POLL):c.200A>G (p.Gln67Arg)	POLL (Q67R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216370	NM_001174084.2(POLL):c.1540C>T (p.Arg514Cys)	POLL (R422C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216369	NM_001174084.2(POLL):c.1532A>G (p.His511Arg)	POLL (H419R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216368	NM_001174084.2(POLL):c.1432C>T (p.Arg478Trp)	POLL (R478W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216367	NM_001174084.2(POLL):c.1358A>G (p.Gln453Arg)	POLL (Q453R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216366	NM_001174084.2(POLL):c.1354C>T (p.Arg452Trp)	POLL (R360W +2 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 3051843	NM_001174084.2(POLL):c.1491C>A (p.Ser497Arg)	POLL (S222R +2 more)	Single nucleotide variant (missense variant +1 more)	POLL-related disorder	GLikely benign
Select item 3041609	NM_001174084.2(POLL):c.1471A>G (p.Ile491Val)	POLL (I216V +2 more)	Single nucleotide variant (missense variant +1 more)	POLL-related disorder	GLikely benign
Select item 3024781	NM_001174084.2(POLL):c.1287C>T (p.Asp429=)	POLL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2681494	NM_001174084.2(POLL):c.360G>A (p.Gln120=)	POLL	Single nucleotide variant (synonymous variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2619939	NM_001174084.2(POLL):c.391A>G (p.Ser131Gly)	POLL (S131G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596371	NM_001174084.2(POLL):c.314C>T (p.Pro105Leu)	POLL (P105L)	Single nucleotide variant (missense variant +2 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 2566502	NM_001174084.2(POLL):c.1403G>A (p.Gly468Asp)	POLL (G376D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526081	NM_001174084.2(POLL):c.922C>T (p.Arg308Trp)	POLL (R216W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523359	NM_001174084.2(POLL):c.278G>A (p.Arg93Gln)	POLL (R93Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468073	NM_001174084.2(POLL):c.116A>G (p.Glu39Gly)	POLL (E39G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465587	NM_001174084.2(POLL):c.697C>T (p.Pro233Ser)	POLL (P233S)	Single nucleotide variant (missense variant +2 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 2402405	NM_001174084.2(POLL):c.1450C>T (p.Arg484Trp)	POLL (R392W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2400828	NM_001174084.2(POLL):c.1309G>A (p.Gly437Ser)	POLL (G437S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395472	NM_001174084.2(POLL):c.503C>T (p.Pro168Leu)	POLL (P168L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394340	NM_001174084.2(POLL):c.1453C>T (p.Arg485Trp)	POLL (R393W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392556	NM_001174084.2(POLL):c.851A>G (p.Asn284Ser)	POLL (N284S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385777	NM_001174084.2(POLL):c.1321C>T (p.Arg441Trp)	POLL (R349W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374793	NM_001174084.2(POLL):c.164G>A (p.Arg55Gln)	POLL (R55Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371188	NM_001174084.2(POLL):c.1237G>A (p.Val413Met)	POLL (V321M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370003	NM_001174084.2(POLL):c.1016C>T (p.Ser339Phe)	POLL (S64F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369115	NM_001174084.2(POLL):c.1046C>T (p.Ala349Val)	POLL (A257V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354805	NM_001174084.2(POLL):c.958G>A (p.Gly320Arg)	POLL (G320R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332816	NM_001174084.2(POLL):c.1411C>G (p.Gln471Glu)	POLL (Q196E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328995	NM_001174084.2(POLL):c.1604C>T (p.Ala535Val)	POLL (A443V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324426	NM_001174084.2(POLL):c.1612C>T (p.Arg538Trp)	POLL (R263W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290446	NM_001174084.2(POLL):c.287G>A (p.Arg96His)	POLL (R96H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287744	NM_001174084.2(POLL):c.1510C>T (p.Leu504Phe)	POLL (L504F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274973	NM_001174084.2(POLL):c.373G>A (p.Val125Met)	POLL (V125M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262146	NM_001174084.2(POLL):c.1063C>G (p.Gln355Glu)	POLL (Q263E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260316	NM_001174084.2(POLL):c.1325G>C (p.Gly442Ala)	POLL (G350A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243881	NM_001174084.2(POLL):c.140A>C (p.His47Pro)	POLL (H47P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243595	NM_001174084.2(POLL):c.1460G>A (p.Arg487Gln)	POLL (R212Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238456	NM_001174084.2(POLL):c.1285G>A (p.Asp429Asn)	POLL (D154N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237341	NM_001174084.2(POLL):c.1546A>G (p.Met516Val)	POLL (M241V +2 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 1283319	NM_001174084.2(POLL):c.1195-15C>T	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279768	NM_001174084.2(POLL):c.*68C>T	POLL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273674	NM_001174084.2(POLL):c.1195-6T>C	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269531	NM_001174084.2(POLL):c.892-95T>C	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268732	NM_001174084.2(POLL):c.1195-62A>G	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267093	NM_001174084.2(POLL):c.1066-135C>A	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248188	NM_001174084.2(POLL):c.1312C>T (p.Arg438Trp)	POLL (R163W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1241876	NM_001174084.2(POLL):c.661A>C (p.Thr221Pro)	POLL (T221P)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1239679	NM_001174084.2(POLL):c.573+42A>G	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221928	NM_001174084.2(POLL):c.892-76T>C	POLL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221687	NM_001174084.2(POLL):c.1224T>C (p.Ser408=)	POLL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1182963	NM_001174084.2(POLL):c.116-32_116-28del	POLL	Deletion (intron 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 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

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