ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 336
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_108222832)_(108369099_?)del
NC_000011.10:g.(?_108227615)_(108365518_?)del
NC_000011.10:g.(?_108243943)_(108365518_?)del
NC_000011.10:g.(?_108243953)_(108369099_?)del
NC_000011.10:g.(?_108267151)_(108365528_?)del
NC_000011.10:g.(?_108267161)_(108354884_?)del
NC_000011.10:g.(?_108267161)_(108365518_?)del
NC_000011.10:g.(?_108267165)_(108365514_?)del
NC_000011.10:g.(?_108280985)_(108365518_?)del
NC_000011.10:g.(?_108297287)_(108335961_?)del
NC_000011.10:g.(?_108317363)_(108317531_?)del
NC_000011.10:g.(?_108325310)_(108369099_?)del
NC_000011.10:g.(?_108335912)_(108340340_?)del
NC_000011.10:g.(?_108343212)_(108365518_?)del
NC_000011.10:g.(?_108343222)_(108369099_?)del
NC_000011.10:g.(?_108347269)_(108354884_?)del
NC_000011.10:g.(?_108364109)_(108365518_?)del
NC_000011.10:g.(?_108364109)_(108365528_?)del
NC_000011.10:g.(?_108365072)_(108365518_?)del
NC_000011.10:g.(?_108365076)_(108365514_?)del
NC_000011.10:g.(?_108365082)_(108365508_?)del
NC_000011.9:g.(?_108137888)_(108225611_?)dup
NG_009830.1:g.(41245_49339)_(137044_147250)dup
NM_000051.3(ATM):c.3403-?_*(1_?)del
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.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
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.5902_5903insSVAelement
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.5931del (p.Phe1977fs) rs1565493368
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.5944C>T (p.Gln1982Ter) rs1555111775
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.5982del (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.3(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6080del (p.Leu2027fs) rs1060501548
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6082del (p.Gln2028fs) rs1565499093
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.6108T>G (p.Tyr2036Ter) rs3092826
NM_000051.3(ATM):c.6115G>T (p.Glu2039Ter) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.3(ATM):c.6199-1G>T rs1591788932
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6222C>A (p.Cys2074Ter) rs1565502708
NM_000051.3(ATM):c.6272G>A (p.Trp2091Ter) rs1060501712
NM_000051.3(ATM):c.6311G>A (p.Trp2104Ter) rs1064794143
NM_000051.3(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.3(ATM):c.6444dup (p.Tyr2149fs) rs1555116533
NM_000051.3(ATM):c.6452+1G>T rs1565509194
NM_000051.3(ATM):c.6585_6586del (p.His2195fs) rs1555119004
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.6808-242_7516-275del
NM_000051.3(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.3(ATM):c.6839del (p.Gln2280fs) rs1407907917
NM_000051.3(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
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.7080T>G (p.Tyr2360Ter) rs1555121147
NM_000051.3(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.3(ATM):c.7159_7160insAGCC (p.Phe2387Ter) rs1591150887
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.7189C>T (p.Gln2397Ter) rs747372355
NM_000051.3(ATM):c.7194C>A (p.Tyr2398Ter) rs1591151199
NM_000051.3(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.3(ATM):c.7261_7262insT (p.Lys2421fs) rs1591151905
NM_000051.3(ATM):c.7267_7270delinsTAC (p.Glu2423fs) rs1591152021
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7293_7294del (p.Lys2431fs) rs1060501525
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.7408T>G (p.Tyr2470Asp) rs876659365
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.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.3(ATM):c.7549_7562delinsATG (p.Leu2517fs) rs1591167422
NM_000051.3(ATM):c.7563C>G (p.Tyr2521Ter) rs772228129
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7655_7656insGA (p.His2552fs) rs1565533629
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.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.3(ATM):c.7768C>T (p.Gln2590Ter) rs876659561
NM_000051.3(ATM):c.7777C>T (p.Gln2593Ter) rs781215442
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.7889T>A (p.Leu2630Ter) rs1591178998
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.7985T>A (p.Val2662Asp) rs863224463
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.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.3(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
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.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
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.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8373C>G (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.3(ATM):c.8418+5_8418+8del rs730881295
NM_000051.3(ATM):c.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.3(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.3(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.3(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
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.8480T>G (p.Phe2827Cys) rs121434216
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.8608_8650dup (p.Glu2884delinsGlyTer) rs1591273850
NM_000051.3(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8781_8786+2del rs1591307438
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.8903T>A (p.Leu2968Ter) rs1555151315
NM_000051.3(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.3(ATM):c.8942del (p.His2981fs) rs786203489
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.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs)
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer)
NM_000051.4(ATM):c.6144_6145AT[1] (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter)
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)
NM_000051.4(ATM):c.6263dup (p.Asn2088fs)
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
NM_000051.4(ATM):c.6401_6402CT[1] (p.Leu2135fs)
NM_000051.4(ATM):c.6413_6414GA[1] (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs)
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter)
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
NM_000051.4(ATM):c.6642delinsGA (p.Asp2214fs)
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs)
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer)
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)
NM_000051.4(ATM):c.6772_6773CT[2] (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6863del (p.Val2288fs)
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)
NM_000051.4(ATM):c.6914_6915AG[1] (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs)
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs)
NM_000051.4(ATM):c.7376del (p.Arg2459fs)
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer)
NM_000051.4(ATM):c.7540_7541TA[1] (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7660del (p.His2554fs)
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
NM_000051.4(ATM):c.7706del (p.Asp2569fs)
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
NM_000051.4(ATM):c.7836_7837GA[3] (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
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.7975_7976insSVAelement
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs)
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
NM_000051.4(ATM):c.8047dup (p.Ile2683fs)
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs)
NM_000051.4(ATM):c.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer)
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8258del (p.Cys2753fs)
NM_000051.4(ATM):c.8278del (p.Leu2760fs)
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)
NM_000051.4(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8414del (p.Met2805fs)
NM_000051.4(ATM):c.8439del (p.Phe2813fs)
NM_000051.4(ATM):c.8481del (p.Gln2828fs)
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs)
NM_000051.4(ATM):c.8780del (p.Phe2927fs)
NM_000051.4(ATM):c.8786+2T>C
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs)
NM_000051.4(ATM):c.8821_8822TC[1] (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
NM_000051.4(ATM):c.8831_8832CT[1] (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs)
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
NM_000051.4(ATM):c.9091del (p.Gln3031fs)
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
NM_001330368.2(C11orf65):c.640+20452dup rs1591388094
NM_001330368.2(C11orf65):c.640+20510del rs1555151928
NM_001330368.2(C11orf65):c.640+20543_640+20546del rs1565609008
NM_001330368.2(C11orf65):c.640+20583_640+20584del rs876660022
NM_001330368.2(C11orf65):c.640+20760_640+20771delinsACA rs1064795675
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.641-10907del rs878853530
NM_001330368.2(C11orf65):c.641-10933del rs1555116451
NM_001330368.2(C11orf65):c.641-10939dup rs587782554
NM_001330368.2(C11orf65):c.641-1117delinsAGG rs587779851
NM_001330368.2(C11orf65):c.641-1196_641-1195del rs1060501657
NM_001330368.2(C11orf65):c.641-12254_641-12239dup rs1555117084
NM_001330368.2(C11orf65):c.641-12273_641-12272del rs1060501707
NM_001330368.2(C11orf65):c.641-12300dup rs1591107480
NM_001330368.2(C11orf65):c.641-12332dup rs1565511585
NM_001330368.2(C11orf65):c.641-16320del rs876658603
NM_001330368.2(C11orf65):c.641-16321_641-16314del rs864622326
NM_001330368.2(C11orf65):c.641-16333del rs878853533
NM_001330368.2(C11orf65):c.641-16348_641-16347del rs1565518539
NM_001330368.2(C11orf65):c.641-16395_641-16394del rs1060501543
NM_001330368.2(C11orf65):c.641-16420_641-16417dup rs863224461
NM_001330368.2(C11orf65):c.641-16420del rs1064793042
NM_001330368.2(C11orf65):c.641-16993delinsTG rs1565520117
NM_001330368.2(C11orf65):c.641-17022del rs1565520291
NM_001330368.2(C11orf65):c.641-17046dup rs1555119834
NM_001330368.2(C11orf65):c.641-17088del rs1555119940
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.641-19951del rs878853538
NM_001330368.2(C11orf65):c.641-20046del rs1555122092
NM_001330368.2(C11orf65):c.641-20099_641-20096del rs1591151678
NM_001330368.2(C11orf65):c.641-20133del rs1565527283
NM_001330368.2(C11orf65):c.641-20144_641-20139del rs796051856
NM_001330368.2(C11orf65):c.641-20160_641-20157del rs886039628
NM_001330368.2(C11orf65):c.641-21304dup rs1591161290
NM_001330368.2(C11orf65):c.641-21345dup rs1591161769
NM_001330368.2(C11orf65):c.641-22376CT[2] rs587781905
NM_001330368.2(C11orf65):c.641-22465del rs1565532554
NM_001330368.2(C11orf65):c.641-22809del rs1591171040
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-22843delinsTCAC rs1555124503
NM_001330368.2(C11orf65):c.641-22847_641-22846del rs1565533778
NM_001330368.2(C11orf65):c.641-22881_641-22880del rs759965045
NM_001330368.2(C11orf65):c.641-22943del rs1057517025
NM_001330368.2(C11orf65):c.641-23694del rs1591178022
NM_001330368.2(C11orf65):c.641-23777A>C rs1196903858
NM_001330368.2(C11orf65):c.641-23778C>G rs267606669
NM_001330368.2(C11orf65):c.641-24865del rs1591184471
NM_001330368.2(C11orf65):c.641-24878_641-24875del rs587776550
NM_001330368.2(C11orf65):c.641-25934_641-25933del rs1565540673
NM_001330368.2(C11orf65):c.641-26826CA[3] rs1555128432
NM_001330368.2(C11orf65):c.641-26871dup rs1565543844
NM_001330368.2(C11orf65):c.641-26890_641-26886del rs730881294
NM_001330368.2(C11orf65):c.641-3392dup rs1591758604
NM_001330368.2(C11orf65):c.641-34163_641-34160del rs775899653
NM_001330368.2(C11orf65):c.641-34196_641-34184del rs786202318
NM_001330368.2(C11orf65):c.641-34204_641-34203delinsT rs1060501630
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.641-36693del rs752526400
NM_001330368.2(C11orf65):c.641-36736del rs1565563579
NM_001330368.2(C11orf65):c.641-36819_641-36818delinsTT rs587781353
NM_001330368.2(C11orf65):c.641-36828_641-36826del rs786203976
NM_001330368.2(C11orf65):c.641-38250_641-38248delinsTTTT rs1565567205
NM_001330368.2(C11orf65):c.641-38278dup rs753961188
NM_001330368.2(C11orf65):c.641-6752dup rs1555113505
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.641-8308G>A rs1555114563
NM_001330368.2(C11orf65):c.641-8330del rs786203008
NM_001330368.2(C11orf65):c.641-8342_641-8341del rs878853529
NM_001330368.2(C11orf65):c.641-8383del rs1565503198
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
c.8201_8212del11ins6

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.