ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely benign for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 298
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HGVS dbSNP
NM_000051.3(ATM):c.*1882C>G rs80226715
NM_000051.3(ATM):c.*2224C>T rs139245552
NM_000051.3(ATM):c.*2563C>T rs146547907
NM_000051.3(ATM):c.*29C>G rs3218711
NM_000051.3(ATM):c.*44A>G rs55900855
NM_000051.3(ATM):c.5763-7T>C rs1555110216
NM_000051.3(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.3(ATM):c.5817A>G (p.Leu1939=) rs749652134
NM_000051.3(ATM):c.5835T>G (p.Ala1945=) rs768106055
NM_000051.3(ATM):c.5856T>C (p.Phe1952=) rs864622297
NM_000051.3(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.3(ATM):c.5868C>T (p.Leu1956=) rs540054724
NM_000051.3(ATM):c.5886A>G (p.Ala1962=) rs1057522876
NM_000051.3(ATM):c.5889T>C (p.Asp1963=) rs1555110490
NM_000051.3(ATM):c.5918+16A>G rs3092911
NM_000051.3(ATM):c.5918+8A>C rs1401825950
NM_000051.3(ATM):c.5919-8A>G rs1176654682
NM_000051.3(ATM):c.5955T>C (p.Thr1985=) rs1555111801
NM_000051.3(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.3(ATM):c.5964C>T (p.Ser1988=) rs774260725
NM_000051.3(ATM):c.6006+7A>G rs1060504289
NM_000051.3(ATM):c.6006+8T>C rs56019194
NM_000051.3(ATM):c.6007-10A>G rs373395916
NM_000051.3(ATM):c.6007-5T>C rs863224294
NM_000051.3(ATM):c.6012T>C (p.Leu2004=) rs1324998068
NM_000051.3(ATM):c.6042G>A (p.Glu2014=) rs138987778
NM_000051.3(ATM):c.6057T>C (p.Tyr2019=) rs777534711
NM_000051.3(ATM):c.6072G>A (p.Gly2024=) rs1591777129
NM_000051.3(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6095+8G>T rs547072690
NM_000051.3(ATM):c.6097C>T (p.Leu2033=) rs769813736
NM_000051.3(ATM):c.6101G>A (p.Arg2034Gln) rs3218670
NM_000051.3(ATM):c.6114C>T (p.His2038=) rs774993357
NM_000051.3(ATM):c.6135C>T (p.Ala2045=) rs1555113771
NM_000051.3(ATM):c.6141A>G (p.Val2047=) rs978540099
NM_000051.3(ATM):c.6147T>C (p.Tyr2049=) rs369940136
NM_000051.3(ATM):c.6153C>T (p.Leu2051=) rs876658452
NM_000051.3(ATM):c.6192C>A (p.Ile2064=) rs876659831
NM_000051.3(ATM):c.6199-6G>A rs1555114529
NM_000051.3(ATM):c.6199-6G>T rs1555114529
NM_000051.3(ATM):c.6211T>C (p.Leu2071=) rs928129862
NM_000051.3(ATM):c.6219C>G (p.Leu2073=) rs752478345
NM_000051.3(ATM):c.6219C>T (p.Leu2073=) rs752478345
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6318T>C (p.Asn2106=) rs864622730
NM_000051.3(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.3(ATM):c.6333T>C (p.His2111=) rs55756349
NM_000051.3(ATM):c.6336C>T (p.Cys2112=) rs755845798
NM_000051.3(ATM):c.6342C>T (p.Ser2114=) rs754020535
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6348-9A>T rs1591099349
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.3(ATM):c.6375T>C (p.His2125=) rs1591099942
NM_000051.3(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6384G>A (p.Leu2128=) rs1060501629
NM_000051.3(ATM):c.6394C>T (p.Leu2132=) rs551408889
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.6447T>C (p.Tyr2149=) rs1057519167
NM_000051.3(ATM):c.6456A>G (p.Val2152=) rs876660014
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6486C>T (p.Ser2162=) rs138166710
NM_000051.3(ATM):c.6504G>A (p.Ser2168=) rs786203522
NM_000051.3(ATM):c.6507C>G (p.Leu2169=) rs863224295
NM_000051.3(ATM):c.6525G>A (p.Arg2175=) rs1555117190
NM_000051.3(ATM):c.6540A>G (p.Gly2180=) rs767516615
NM_000051.3(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.3(ATM):c.6573-8G>A rs1555118989
NM_000051.3(ATM):c.6573-8G>T rs1555118989
NM_000051.3(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.3(ATM):c.6591A>G (p.Gln2197=) rs863224296
NM_000051.3(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.3(ATM):c.6606T>C (p.Tyr2202=) rs1367617850
NM_000051.3(ATM):c.6636C>T (p.Leu2212=) rs876659563
NM_000051.3(ATM):c.6678A>G (p.Leu2226=) rs772173373
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6687C>A (p.Val2229=) rs1442555144
NM_000051.3(ATM):c.6700C>T (p.Leu2234=) rs760602228
NM_000051.3(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.3(ATM):c.6765T>C (p.Leu2255=) rs587780637
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6807+10A>G rs924117395
NM_000051.3(ATM):c.6807+8del rs1555119385
NM_000051.3(ATM):c.6813T>C (p.Pro2271=) rs1555119714
NM_000051.3(ATM):c.6831A>G (p.Gln2277=) rs1339794219
NM_000051.3(ATM):c.6846T>C (p.Asn2282=) rs541718119
NM_000051.3(ATM):c.6870G>A (p.Glu2290=) rs1555119845
NM_000051.3(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6897C>T (p.Phe2299=) rs777164914
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6924C>A (p.Ala2308=) rs759878732
NM_000051.3(ATM):c.6925C>T (p.Leu2309=) rs763839047
NM_000051.3(ATM):c.6927G>A (p.Leu2309=) rs876660429
NM_000051.3(ATM):c.6927G>T (p.Leu2309=) rs876660429
NM_000051.3(ATM):c.6936C>T (p.Leu2312=) rs1555119992
NM_000051.3(ATM):c.6963C>T (p.Ala2321=) rs1555120057
NM_000051.3(ATM):c.6975+7T>A rs754834282
NM_000051.3(ATM):c.6976-6dup rs760058702
NM_000051.3(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.3(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.3(ATM):c.7005A>G (p.Thr2335=) rs1555120978
NM_000051.3(ATM):c.7011T>C (p.Cys2337=) rs878853536
NM_000051.3(ATM):c.7012C>T (p.Leu2338=) rs1555120990
NM_000051.3(ATM):c.7017G>A (p.Arg2339=) rs1591142466
NM_000051.3(ATM):c.7023T>C (p.Cys2341=) rs878853537
NM_000051.3(ATM):c.7038A>T (p.Ala2346=) rs146167034
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.7062G>A (p.Ala2354=) rs143489373
NM_000051.3(ATM):c.7077C>T (p.Thr2359=) rs1555121132
NM_000051.3(ATM):c.7113T>C (p.Tyr2371=) rs760534895
NM_000051.3(ATM):c.7116T>C (p.Asp2372=) rs3218675
NM_000051.3(ATM):c.7131T>C (p.Asp2377=) rs373309822
NM_000051.3(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.3(ATM):c.7155G>A (p.Lys2385=) rs878853540
NM_000051.3(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.3(ATM):c.7191A>G (p.Gln2397=) rs768906734
NM_000051.3(ATM):c.7198A>C (p.Arg2400=) rs777423778
NM_000051.3(ATM):c.7209C>T (p.Asn2403=) rs373662499
NM_000051.3(ATM):c.7221A>G (p.Ser2407=) rs786201881
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.7239G>A (p.Lys2413=) rs1555122182
NM_000051.3(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.3(ATM):c.7266G>A (p.Glu2422=) rs876659834
NM_000051.3(ATM):c.7290T>C (p.His2430=) rs876658715
NM_000051.3(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.3(ATM):c.7311C>T (p.Tyr2437=) rs763470424
NM_000051.3(ATM):c.7314A>C (p.Thr2438=) rs199909913
NM_000051.3(ATM):c.7317A>G (p.Val2439=) rs878853542
NM_000051.3(ATM):c.7359T>G (p.Arg2453=) rs786201541
NM_000051.3(ATM):c.7362A>C (p.Ala2454=) rs1591160216
NM_000051.3(ATM):c.7363C>T (p.Leu2455=) rs147665149
NM_000051.3(ATM):c.7365G>A (p.Leu2455=) rs756506590
NM_000051.3(ATM):c.7365G>C (p.Leu2455=) rs756506590
NM_000051.3(ATM):c.7371G>A (p.Glu2457=) rs1454725863
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7420T>C (p.Leu2474=) rs1555123149
NM_000051.3(ATM):c.7422A>G (p.Leu2474=) rs1591160792
NM_000051.3(ATM):c.7434A>G (p.Glu2478=) rs1555123171
NM_000051.3(ATM):c.7464T>C (p.Cys2488=) rs1555123227
NM_000051.3(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.3(ATM):c.7515+20A>G rs80124497
NM_000051.3(ATM):c.7521C>T (p.Asp2507=) rs751234924
NM_000051.3(ATM):c.7542T>C (p.Tyr2514=) rs777925486
NM_000051.3(ATM):c.7545A>G (p.Lys2515=) rs1467809725
NM_000051.3(ATM):c.7587C>T (p.Thr2529=) rs890244103
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7602C>T (p.Gly2534=) rs562264493
NM_000051.3(ATM):c.7620C>A (p.Val2540=) rs863224298
NM_000051.3(ATM):c.7620C>T (p.Val2540=) rs863224298
NM_000051.3(ATM):c.7630-7C>T rs730881276
NM_000051.3(ATM):c.7647A>T (p.Ser2549=) rs1591171175
NM_000051.3(ATM):c.7656C>T (p.His2552=) rs1555124473
NM_000051.3(ATM):c.7710A>G (p.Glu2570=) rs760215505
NM_000051.3(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.3(ATM):c.7716G>C (p.Leu2572=) rs763730344
NM_000051.3(ATM):c.7779G>A (p.Gln2593=) rs770321620
NM_000051.3(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.3(ATM):c.7788+7G>A rs749610251
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7788+9A>G rs1182105888
NM_000051.3(ATM):c.7789-8A>T rs1591177900
NM_000051.3(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.3(ATM):c.7827C>T (p.Ile2609=) rs768423205
NM_000051.3(ATM):c.7836G>A (p.Arg2612=) rs761324887
NM_000051.3(ATM):c.7890A>G (p.Leu2630=) rs756181210
NM_000051.3(ATM):c.7905C>T (p.Ala2635=) rs757829783
NM_000051.3(ATM):c.7917G>A (p.Lys2639=) rs1555125501
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7927+10T>C rs730881277
NM_000051.3(ATM):c.7947A>C (p.Ala2649=) rs1060504301
NM_000051.3(ATM):c.7947A>G (p.Ala2649=) rs1060504301
NM_000051.3(ATM):c.7950C>T (p.Asp2650=) rs1060504298
NM_000051.3(ATM):c.7968T>C (p.Leu2656=) rs1591184410
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.7989T>C (p.Val2663=) rs774232968
NM_000051.3(ATM):c.7992C>T (p.Val2664=) rs1591184637
NM_000051.3(ATM):c.8010+185_8010+186del rs984385407
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.3(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.3(ATM):c.8100A>G (p.Lys2700=) rs778601472
NM_000051.3(ATM):c.8109T>C (p.Asp2703=) rs201689025
NM_000051.3(ATM):c.8121C>T (p.Ser2707=) rs770138283
NM_000051.3(ATM):c.8124T>C (p.Asp2708=) rs587781990
NM_000051.3(ATM):c.8151+8T>C rs768069197
NM_000051.3(ATM):c.8152-50T>C rs762648668
NM_000051.3(ATM):c.8152-6C>T rs200389039
NM_000051.3(ATM):c.8152-9A>G rs1555128181
NM_000051.3(ATM):c.8154C>T (p.Gly2718=) rs371021126
NM_000051.3(ATM):c.8164C>T (p.Leu2722=) rs587782399
NM_000051.3(ATM):c.8178T>C (p.Ala2726=) rs367575159
NM_000051.3(ATM):c.8193C>A (p.Val2731=) rs1060504307
NM_000051.3(ATM):c.8199G>A (p.Gln2733=) rs770552705
NM_000051.3(ATM):c.8211A>G (p.Thr2737=) rs876660946
NM_000051.3(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.3(ATM):c.8217G>A (p.Leu2739=) rs759069006
NM_000051.3(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.3(ATM):c.8229G>A (p.Thr2743=) rs150603052
NM_000051.3(ATM):c.8248T>C (p.Leu2750=) rs876658559
NM_000051.3(ATM):c.8265T>C (p.Tyr2755=) rs758654836
NM_000051.3(ATM):c.8269-10_8269-9del rs587780641
NM_000051.3(ATM):c.8269-14A>T rs114320959
NM_000051.3(ATM):c.8277C>T (p.Pro2759=) rs878853548
NM_000051.3(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.3(ATM):c.8322C>A (p.Val2774=) rs1060504267
NM_000051.3(ATM):c.8355T>C (p.Asp2785=) rs372834825
NM_000051.3(ATM):c.8385T>C (p.Asp2795=) rs1251164631
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8418+8A>T rs1591249687
NM_000051.3(ATM):c.8419-8A>G rs567215034
NM_000051.3(ATM):c.8424G>T (p.Val2808=) rs786203870
NM_000051.3(ATM):c.8427A>G (p.Gln2809=) rs538173062
NM_000051.3(ATM):c.8469T>C (p.Val2823=) rs1555138081
NM_000051.3(ATM):c.8502C>T (p.Phe2834=) rs1555138167
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8548T>C (p.Leu2850=) rs1555138320
NM_000051.3(ATM):c.8550G>A (p.Leu2850=) rs1591265370
NM_000051.3(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.3(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.3(ATM):c.8559G>C (p.Thr2853=) rs368058202
NM_000051.3(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.3(ATM):c.8571T>C (p.Ala2857=) rs786203050
NM_000051.3(ATM):c.8571T>G (p.Ala2857=) rs786203050
NM_000051.3(ATM):c.8574T>C (p.Thr2858=) rs786203415
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.8584+7T>C rs1374271708
NM_000051.3(ATM):c.8584+7T>G rs1374271708
NM_000051.3(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.3(ATM):c.8585-4C>A rs1555139447
NM_000051.3(ATM):c.8585-4C>G rs1555139447
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8595A>T (p.Ile2865=) rs777245630
NM_000051.3(ATM):c.8601A>G (p.Gly2867=) rs1565567027
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8671+9T>C rs200190537
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.3(ATM):c.8733C>A (p.Thr2911=) rs1057523011
NM_000051.3(ATM):c.8786+6_8786+9dup rs1312735736
NM_000051.3(ATM):c.8786+7G>A rs1555142923
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8786+8A>G rs4986839
NM_000051.3(ATM):c.8786+9T>C rs1060504271
NM_000051.3(ATM):c.8787-4C>G rs944858078
NM_000051.3(ATM):c.8787-5T>C rs1479499265
NM_000051.3(ATM):c.8787-6C>T rs1591313765
NM_000051.3(ATM):c.8820C>T (p.Asn2940=) rs775823407
NM_000051.3(ATM):c.8823T>C (p.Ser2941=) rs1060504288
NM_000051.3(ATM):c.8844T>C (p.Ile2948=) rs878853551
NM_000051.3(ATM):c.8847A>G (p.Val2949=) rs876658820
NM_000051.3(ATM):c.8850+10T>C rs762487236
NM_000051.3(ATM):c.8851-10C>T rs1057521676
NM_000051.3(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.3(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.3(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.3(ATM):c.8940T>G (p.Leu2980=) rs576335919
NM_000051.3(ATM):c.8955T>C (p.Asn2985=) rs755561691
NM_000051.3(ATM):c.8964C>T (p.Asp2988=) rs969795398
NM_000051.3(ATM):c.8979A>G (p.Arg2993=) rs1042288533
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8988-5C>T rs1591386387
NM_000051.3(ATM):c.9024T>C (p.Arg3008=) rs876658179
NM_000051.3(ATM):c.9027C>G (p.Val3009=) rs1200351979
NM_000051.3(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.3(ATM):c.9042A>G (p.Gln3014=) rs1060504291
NM_000051.3(ATM):c.9045G>A (p.Glu3015=) rs786203336
NM_000051.3(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.3(ATM):c.9049C>T (p.Leu3017=) rs876658991
NM_000051.3(ATM):c.9060G>T (p.Val3020=) rs864622625
NM_000051.3(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.3(ATM):c.9072T>G (p.Thr3024=) rs1308894113
NM_000051.3(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.*1974C>G
NM_000051.4(ATM):c.*779T>G
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_001330368.2(C11orf65):c.640+20471G>T rs1591387978

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