"PreventionGenetics, part of Exact Sciences"[submitter] AND "C11orf65" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696413	NM_000051.4(ATM):c.5763-1056G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3048663	NM_000051.4(ATM):c.5763-1055G>C	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 3037003	NM_000051.4(ATM):c.5763-1046A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 128459	NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 233324	NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)	ATM, C11orf65 (V1941G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 560759	NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly)	ATM, C11orf65 (A1954G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +8 more	GConflicting classifications of pathogenicity
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	C11orf65, ATM (E1978*)	Single nucleotide variant (nonsense +1 more)	ATM-related disorder +6 more	GPathogenic
Select item 127415	NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	ATM, C11orf65 (K1992T)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 184453	NM_000051.4(ATM):c.6042G>A (p.Glu2014=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 232903	NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr)	ATM, C11orf65 (C2021Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127416	NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	ATM, C11orf65 (G2023R)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 133628	NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	ATM, C11orf65 (I2030V)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 181974	NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	ATM, C11orf65 (R2032K)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 370488	NM_000051.4(ATM):c.6095+2T>C	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	ATM-related disorder +3 more	GLikely pathogenic
Select item 388082	NM_000051.4(ATM):c.6095+6T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GLikely benign
Select item 140766	NM_000051.4(ATM):c.6095+15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 233931	NM_000051.4(ATM):c.6100C>A (p.Arg2034=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 219787	NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	ATM, C11orf65 (E2039K)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 654478	NM_000051.4(ATM):c.6177dup (p.Arg2060fs)	ATM, C11orf65 (R2060fs)	Duplication (frameshift variant +1 more)	ATM-related disorder +3 more	GPathogenic
Select item 127421	NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	ATM, C11orf65 (T2059I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 230510	NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)	ATM, C11orf65 (I2065T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 579270	NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg)	ATM, C11orf65 (Q2066R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 482622	NM_000051.4(ATM):c.6219C>G (p.Leu2073=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GLikely benign
Select item 127423	NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro)	C11orf65, ATM (S2078P)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +4 more	GUncertain significance
Select item 133629	NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	C11orf65, ATM (V2079I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 135767	NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)	ATM, C11orf65 (R2105S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 181863	NM_000051.4(ATM):c.6348-8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 186642	NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 133630	NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	ATM, C11orf65 (S2146T)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 388903	NM_000051.4(ATM):c.6452+9A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 184230	NM_000051.4(ATM):c.6465G>A (p.Val2155=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 489574	NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)	ATM, C11orf65 (V2166A)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GUncertain significance
Select item 127425	NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)	ATM, C11orf65 (E2181D)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 135772	NM_000051.4(ATM):c.6572+4T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 140762	NM_000051.4(ATM):c.6572+12G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 254754	NM_000051.4(ATM):c.6573-16A>G	C11orf65, ATM	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 420454	NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg)	C11orf65, ATM (S2215R)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +3 more	GUncertain significance
Select item 186856	NM_000051.4(ATM):c.6700C>T (p.Leu2234=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 185950	NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser)	ATM, C11orf65 (N2241S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 135774	NM_000051.4(ATM):c.6795C>T (p.Phe2265=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 579169	NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)	ATM, C11orf65 (E2272fs)	Indel (frameshift variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 265315	NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)	ATM, C11orf65 (E2272K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 127428	NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	ATM, C11orf65 (G2287A)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 183995	NM_000051.4(ATM):c.6888A>T (p.Ala2296=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 418041	NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs)	ATM, C11orf65 (L2307fs)	Deletion (frameshift variant +1 more)	ATM-related disorder +1 more	GPathogenic
Select item 127430	NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	C11orf65, ATM (L2307F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1023797	NM_000051.4(ATM):c.6956T>C (p.Leu2319Ser)	ATM, C11orf65 (L2319S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 220592	NM_000051.4(ATM):c.6966C>T (p.Ser2322=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 141676	NM_000051.4(ATM):c.6975G>A (p.Ala2325=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127433	NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	ATM, C11orf65 (L2330V)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 133631	NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)	ATM, C11orf65 (L2332P)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GBenign FDA Recognized database
Select item 127435	NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)	ATM, C11orf65 (T2333I)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 127434	NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)	C11orf65, ATM (T2333K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 418584	NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)	ATM, C11orf65 (Y2334H)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +4 more	GUncertain significance
Select item 184489	NM_000051.4(ATM):c.7062G>A (p.Ala2354=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 3061416	NM_000051.4(ATM):c.7158_7164delinsCCGGTTT (p.Phe2387_Leu2388delinsArgPhe)	ATM, C11orf65	Indel (missense variant +1 more)	ATM-related disorder	GUncertain significance
Select item 1260070	NM_000051.4(ATM):c.7158A>G (p.Ala2386=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 181888	NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)	ATM, C11orf65 (S2408L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 215593	NM_000051.4(ATM):c.7224G>A (p.Ser2408=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 407621	NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr)	ATM, C11orf65 (N2412T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 236768	NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)	ATM, C11orf65 (A2415G)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 127440	NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)	C11orf65, ATM (T2438I)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 3036	NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	ATM, C11orf65 (R2443*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 127442	NM_000051.4(ATM):c.7354C>G (p.Leu2452Val)	ATM, C11orf65 (L2452V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 423706	NM_000051.4(ATM):c.7376G>A (p.Arg2459His)	ATM, C11orf65 (R2459H)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +3 more	GUncertain significance
Select item 142541	NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)	C11orf65, ATM (R2461C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 127443	NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	C11orf65, ATM (C2464R)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 181839	NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 236775	NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly)	C11orf65, ATM (R2506G)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 187265	NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)	ATM, C11orf65 (G2508R)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 187253	NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 140910	NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)	ATM, C11orf65 (M2531T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 382256	NM_000051.4(ATM):c.7629T>C (p.Asn2543=)	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +2 more)	ATM-related disorder +3 more	GLikely benign
Select item 136431	NM_000051.4(ATM):c.7630-17T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Colorectal cancer +4 more	GPathogenic
Select item 3019	NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	ATM, C11orf65	Deletion (inframe deletion +1 more)	ATM-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 1055422	NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp)	ATM, C11orf65 (L2557W)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 453699	NM_000051.4(ATM):c.7687T>G (p.Leu2563Val)	ATM, C11orf65 (L2563V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 1106724	NM_000051.4(ATM):c.7734C>T (p.Ala2578=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 127448	NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)	ATM, C11orf65 (R2580S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127450	NM_000051.4(ATM):c.7788+8G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 418043	NM_000051.4(ATM):c.7789-16dup	C11orf65, ATM	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 187077	NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	ATM, C11orf65 (I2606V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3030	NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	ATM, C11orf65	Indel (missense variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 220064	NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	C11orf65, ATM (Y2627C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220528	NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu)	ATM, C11orf65 (D2634E)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder +2 more	GUncertain significance
Select item 133634	NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)	ATM, C11orf65 (T2640I)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 140857	NM_000051.4(ATM):c.7927+13dup	ATM, C11orf65	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184187	NM_000051.4(ATM):c.7983T>C (p.Asp2661=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 133635	NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	ATM, C11orf65 (V2663A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 560729	NM_000051.4(ATM):c.8028A>G (p.Glu2676=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	ATM-related disorder +2 more	GLikely benign
Select item 2632569	NM_000051.4(ATM):c.8030A>T (p.Tyr2677Phe)	ATM, C11orf65 (Y2677F)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder	GUncertain significance
Select item 230098	NM_000051.4(ATM):c.8072G>A (p.Arg2691His)	ATM, C11orf65 (R2691H)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183972	NM_000051.4(ATM):c.8100A>G (p.Lys2700=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 482561	NM_000051.4(ATM):c.8109T>C (p.Asp2703=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GLikely benign
Select item 142700	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM, C11orf65 (V2716A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 377522	NM_000051.4(ATM):c.8151+11C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 560760	NM_000051.4(ATM):c.8151+17C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 185736	NM_000051.4(ATM):c.8154C>T (p.Gly2718=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +4 more	GLikely benign

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