ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 144
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HGVS dbSNP
NM_000051.3(ATM):c.5762_5763insNG_009830.1:g.91138_91274 rs774925473
NM_000051.3(ATM):c.5765delC (p.Pro1922Leufs) rs786202814
NM_000051.3(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.3(ATM):c.5784dup (p.Asn1929Terfs) rs1131691254
NM_000051.3(ATM):c.5791_5794delGCTTinsCCTCT (p.Ala1931Profs) rs1555110295
NM_000051.3(ATM):c.5791delGinsCCT (p.Ala1931Profs) rs587779851
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5870_5871delAT (p.Tyr1957Cysfs) rs1060501657
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5893_5897delAAAAG (p.Lys1965Tyrfs) rs587781727
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910delA (p.Glu1971Argfs) rs587782198
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
NM_000051.3(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.3(ATM):c.5959dup (p.Ser1987Phefs) rs1555111808
NM_000051.3(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.3(ATM):c.5979_5983delTAAAG (p.Ser1993Argfs) rs876660134
NM_000051.3(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.3(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
NM_000051.3(ATM):c.6049dupA (p.Ser2017Lysfs) rs797045030
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6133delG (p.Ala2045Profs) rs1555113762
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6228delT (p.Leu2077Phefs) rs786203008
NM_000051.3(ATM):c.6270delCinsTT (p.Trp2091Leufs) rs1555114702
NM_000051.3(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.3(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.3(ATM):c.6369_6370delTT (p.Ser2123Argfs) rs1555116381
NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.3(ATM):c.6399dup (p.Ser2134Ilefs) rs1555116451
NM_000051.3(ATM):c.6403_6404insCT (p.Leu2135Profs) rs1555116468
NM_000051.3(ATM):c.6433_6445del13 (p.Glu2145Metfs) rs786202264
NM_000051.3(ATM):c.6436dupA (p.Ser2146Lysfs) rs786202323
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.6650_6657delTTAGTTTT (p.Phe2217Serfs) rs864622326
NM_000051.3(ATM):c.6657delT (p.Gln2220Argfs) rs876658603
NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536
NM_000051.3(ATM):c.6673dupG (p.Ala2225Glyfs) rs587781872
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.6725delC (p.Ser2242Tyrfs) rs876658394
NM_000051.3(ATM):c.6748dup (p.Ile2250Asnfs) rs1555119247
NM_000051.3(ATM):c.6776_6777delCT (p.Ser2259Tyrfs) rs1131691156
NM_000051.3(ATM):c.6797_6798delAGinsC (p.Lys2266Thrfs) rs1555119364
NM_000051.3(ATM):c.6850delG (p.Val2284Leufs) rs876659569
NM_000051.3(ATM):c.6867dup (p.Glu2290Terfs) rs1555119834
NM_000051.3(ATM):c.6908dup (p.Glu2304Glyfs) rs773570504
NM_000051.3(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) rs587781299
NM_000051.3(ATM):c.7000_7003delTACA (p.Tyr2334Glnfs) rs786203421
NM_000051.3(ATM):c.7026dup (p.Asn2343Glnfs) rs1555121020
NM_000051.3(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162
NM_000051.3(ATM):c.7044_7047delGTGC (p.Cys2349Terfs) rs1555121066
NM_000051.3(ATM):c.7088delA (p.Lys2363Argfs) rs876658512
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7189C>T (p.Gln2397Ter) rs747372355
NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.3(ATM):c.7262_7263delAA (p.Lys2421Argfs) rs1131691157
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7449G>A (p.Trp2483Ter) rs773516672
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7465_7466delTC (p.Ser2489Profs) rs786203734
NM_000051.3(ATM):c.7517_7520delGAGA (p.Arg2506Thrfs) rs587781905
NM_000051.3(ATM):c.7599_7600dup (p.Gly2534Glufs) rs1555124089
NM_000051.3(ATM):c.7629_7629+4delTGTAA rs876660041
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7665delCinsGTGA (p.His2555_Asp2889delinsGlnTer) rs1555124503
NM_000051.3(ATM):c.7705_7706delGA (p.Asp2569Terfs) rs759965045
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7858delG (p.Val2620Leufs) rs1555125349
NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7998dupT (p.Met2667Tyrfs) rs587779869
NM_000051.3(ATM):c.8036_8051del16 (p.Asn2679Serfs) rs587780640
NM_000051.3(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8204_8205dupGT (p.Asn2736Valfs) rs1555128432
NM_000051.3(ATM):c.8205_8206insAA (p.Asn2736Lysfs) rs587782525
NM_000051.3(ATM):c.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.3(ATM):c.8251_8254delACTA (p.Thr2751Serfs) rs786202120
NM_000051.3(ATM):c.8264_8268delATAAG (p.Tyr2755Cysfs) rs730881294
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8269delG (p.Val2757Trpfs) rs1555135341
NM_000051.3(ATM):c.8283_8284delTC (p.Gln2762Alafs) rs775899653
NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) rs879254036
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8305_8317delTGGTGCACAGGAA (p.Trp2769Leufs) rs786202318
NM_000051.3(ATM):c.8325delC (p.Ile2776Leufs) rs886039623
NM_000051.3(ATM):c.8328_8329delTG (p.Ile2776Metfs) rs1555135633
NM_000051.3(ATM):c.8367delAinsTT (p.Lys2789Asnfs) rs786202418
NM_000051.3(ATM):c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs) rs786202800
NM_000051.3(ATM):c.8397delT (p.Gln2800Serfs) rs587781837
NM_000051.3(ATM):c.8418+5_8418+8delGTGA rs730881295
NM_000051.3(ATM):c.8431A>T (p.Lys2811Ter) rs1131691158
NM_000051.3(ATM):c.8432delA (p.Lys2811Serfs) rs587782558
NM_000051.3(ATM):c.8432dupA (p.Ser2812Valfs) rs587782558
NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.3(ATM):c.8476_8477dupAA (p.Asn2826Lysfs) rs786203272
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8505C>A (p.Cys2835Ter) rs587781597
NM_000051.3(ATM):c.8514dupA (p.Phe2839Ilefs) rs876659010
NM_000051.3(ATM):c.8545C>T (p.Arg2849Ter) rs587778080
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8615_8616delAT (p.His2872Argfs) rs1232259438
NM_000051.3(ATM):c.8624dupA (p.Asn2875Lysfs) rs876660411
NM_000051.3(ATM):c.8655dupT (p.Val2886Cysfs) rs753961188
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8766dupT (p.Val2923Cysfs) rs876660813
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>C rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8802delC (p.Met2935Trpfs) rs876660567
NM_000051.3(ATM):c.8814_8824delGAGAAACTCTC (p.Met2938Ilefs) rs758814126
NM_000051.3(ATM):c.8818_8821dupAACT (p.Ser2941Terfs) rs876658959
NM_000051.3(ATM):c.8823_8824delTC (p.Gln2942Glyfs) rs1555143538
NM_000051.3(ATM):c.8833_8834delCT (p.Leu2945Valfs) rs786203030
NM_000051.3(ATM):c.8835_8836delGT (p.Leu2946Asnfs) rs786202547
NM_000051.3(ATM):c.8873_8874delTT (p.Phe2958Terfs) rs864622669
NM_000051.3(ATM):c.8874dup (p.Asp2959Terfs) rs864622669
NM_000051.3(ATM):c.8876_8879delACTG (p.Asp2959Glyfs) rs786204726
NM_000051.3(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.3(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.3(ATM):c.8925_8928dup (p.Glu2977Argfs) rs1555151395
NM_000051.3(ATM):c.8942delA (p.His2981Profs) rs786203489
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8987+1G>C rs786203631
NM_000051.3(ATM):c.8988-1G>C rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9001_9002delAG (p.Ser3001Phefs) rs876660022
NM_000051.3(ATM):c.9005delT (p.Phe3002Serfs) rs876659235
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9021dupA (p.Arg3008Thrfs) rs876660235
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9047_9057del11 (p.Lys3016Serfs) rs587782847
NM_000051.3(ATM):c.9064dupG (p.Glu3022Glyfs) rs1057516282
NM_000051.3(ATM):c.9079dupA (p.Ser3027Lysfs) rs587780645
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219

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