ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP
NM_000051.3(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910del (p.Glu1971fs) 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.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.3(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.3(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.3(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.3(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
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.6181C>T (p.Gln2061Ter) rs1555113845
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.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.3(ATM):c.6403_6404insCT (p.Leu2135fs) rs1555116468
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536
NM_000051.3(ATM):c.6797_6798delinsC (p.Lys2266fs) rs1555119364
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.3(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.3(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162
NM_000051.3(ATM):c.7088del (p.Lys2363fs) 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.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
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.7517_7520delGAGA rs587781905
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.3(ATM):c.7708G>T (p.Glu2570Ter) rs1555124587
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.7880del (p.Tyr2627fs) rs1057516599
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.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.3(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
NM_000051.3(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.3(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.3(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8269delG rs1555135341
NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.3(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.3(ATM):c.8418+5_8418+8del rs730881295
NM_000051.3(ATM):c.8431A>T (p.Lys2811Ter) rs1131691158
NM_000051.3(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.3(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.3(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.3(ATM):c.8505C>A (p.Cys2835Ter) rs587781597
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.8584+2T>C rs730881326
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
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.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8824C>T (p.Gln2942Ter) rs1591314316
NM_000051.3(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) 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.8942del (p.His2981fs) rs786203489
NM_000051.3(ATM):c.8987+1G>C rs786203631
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-1G>C rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.3(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter) rs1591758899
NM_000051.4(ATM):c.6128dup (p.Lys2044fs) rs1591778765
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter) rs1591789046
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6413_6414GA[1] (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter) rs1367617850
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter) rs1591129305
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6772_6773CT[2] (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6914_6915AG[1] (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7028del (p.Asn2343fs) rs1591142530
NM_000051.4(ATM):c.7311_7312CA[3] (p.Val2439fs) rs1591159614
NM_000051.4(ATM):c.7333del (p.Leu2445fs) rs1591159924
NM_000051.4(ATM):c.7368_7369AG[1] (p.Glu2457fs) rs1591160284
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter) rs1591160295
NM_000051.4(ATM):c.7492del (p.Ser2498fs) rs1591161470
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter) rs750224234
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs) rs1591178362
NM_000051.4(ATM):c.7836_7837GA[3] (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter) rs1591179199
NM_000051.4(ATM):c.8051dup (p.Ser2685fs) rs1591191449
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer) rs1565543844
NM_000051.4(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs) rs1591264194
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8533del (p.Trp2845fs) rs1591265186
NM_000051.4(ATM):c.8821_8822TC[1] (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8831_8832CT[1] (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8865del (p.Pro2956fs) rs1591384391
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9014dup (p.Ala3006fs) rs1591386748
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs) rs1591387609
NM_001330368.2(C11orf65):c.640+20528_640+20538del rs587782847
NM_001330368.2(C11orf65):c.640+20580del rs876659235
NM_001330368.2(C11orf65):c.640+20583_640+20584del rs876660022
NM_001330368.2(C11orf65):c.640+20761_640+20764dup rs1555151395
NM_001330368.2(C11orf65):c.640+20815dup rs864622669
NM_001330368.2(C11orf65):c.640+20816_640+20817del rs864622669
NM_001330368.2(C11orf65):c.640+31075_640+31078dup rs876658959
NM_001330368.2(C11orf65):c.640+31095del rs876660567
NM_001330368.2(C11orf65):c.640+32060dup rs876660813
NM_001330368.2(C11orf65):c.641-10905_641-10904del rs1555116381
NM_001330368.2(C11orf65):c.641-1090del rs786202814
NM_001330368.2(C11orf65):c.641-10934dup rs1555116451
NM_001330368.2(C11orf65):c.641-10971dup rs786202323
NM_001330368.2(C11orf65):c.641-10978_641-10966del rs786202264
NM_001330368.2(C11orf65):c.641-1110dup rs1131691254
NM_001330368.2(C11orf65):c.641-1117delinsAGG rs587779851
NM_001330368.2(C11orf65):c.641-1119_641-1117delinsGAGG rs1555110295
NM_001330368.2(C11orf65):c.641-1196_641-1195del rs1060501657
NM_001330368.2(C11orf65):c.641-1220_641-1216del rs587781727
NM_001330368.2(C11orf65):c.641-16320del rs876658603
NM_001330368.2(C11orf65):c.641-16321_641-16314del rs864622326
NM_001330368.2(C11orf65):c.641-16339dup rs587781872
NM_001330368.2(C11orf65):c.641-16391del rs876658394
NM_001330368.2(C11orf65):c.641-16414dup rs1555119247
NM_001330368.2(C11orf65):c.641-17046dup rs1555119834
NM_001330368.2(C11orf65):c.641-18595dup rs587781299
NM_001330368.2(C11orf65):c.641-18597_641-18594del rs786203421
NM_001330368.2(C11orf65):c.641-18608_641-18607del rs864622416
NM_001330368.2(C11orf65):c.641-18624dup rs1555121020
NM_001330368.2(C11orf65):c.641-18644_641-18641del rs1555121066
NM_001330368.2(C11orf65):c.641-20122_641-20121del rs1131691157
NM_001330368.2(C11orf65):c.641-21301_641-21300del rs786203734
NM_001330368.2(C11orf65):c.641-22456_641-22455dup rs1555124089
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-22843delinsTCAC rs1555124503
NM_001330368.2(C11orf65):c.641-22881_641-22880del rs759965045
NM_001330368.2(C11orf65):c.641-23760del rs1555125349
NM_001330368.2(C11orf65):c.641-26826CA[3] rs1555128432
NM_001330368.2(C11orf65):c.641-26829_641-26828dup rs587782525
NM_001330368.2(C11orf65):c.641-26874_641-26871del rs786202120
NM_001330368.2(C11orf65):c.641-26890_641-26886del rs730881294
NM_001330368.2(C11orf65):c.641-3380dup rs1555111808
NM_001330368.2(C11orf65):c.641-34165AG[2] rs775899653
NM_001330368.2(C11orf65):c.641-34170del rs886039630
NM_001330368.2(C11orf65):c.641-34196_641-34184del rs786202318
NM_001330368.2(C11orf65):c.641-34211_641-34210del rs1555135633
NM_001330368.2(C11orf65):c.641-34249delinsAA rs786202418
NM_001330368.2(C11orf65):c.641-34255_641-34252del rs1064793046
NM_001330368.2(C11orf65):c.641-34277del rs587781837
NM_001330368.2(C11orf65):c.641-36767dup rs876659010
NM_001330368.2(C11orf65):c.641-38239_641-38238del rs1232259438
NM_001330368.2(C11orf65):c.641-38247dup rs876660411
NM_001330368.2(C11orf65):c.641-38278dup rs753961188
NM_001330368.2(C11orf65):c.641-6794dup rs797045030
NM_001330368.2(C11orf65):c.641-6796_641-6793del rs1591776808
NM_001330368.2(C11orf65):c.641-6977del rs1555113762
NM_001330368.2(C11orf65):c.641-8330del rs786203008
NM_001330368.2(C11orf65):c.641-8373delinsAA rs1555114702
NM_001330368.2(C11orf65):c.641-8383del rs1565503198
NM_001351834.2(ATM):c.5763-1050A>G rs774925473

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