ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.5853del (p.Phe1952fs) rs1555110418
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.5931del (p.Phe1977fs) rs1565493368
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
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.5980A>T (p.Lys1994Ter) rs1565493693
NM_000051.3(ATM):c.5982dup (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.3(ATM):c.6007_6029dup
NM_000051.3(ATM):c.6015dup (p.Glu2007fs) rs1438576066
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.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.6237_6238del (p.Tyr2080fs) rs1555114623
NM_000051.3(ATM):c.6258T>G (p.Tyr2086Ter) rs1565502999
NM_000051.3(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
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.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536
NM_000051.3(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.3(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.3(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
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.7517_7520delGAGA rs587781905
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.7777C>T (p.Gln2593Ter) rs781215442
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8213T>G (p.Leu2738Ter) rs773889320
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8284C>T (p.Gln2762Ter) rs751574257
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.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8418+5_8418+8del rs730881295
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.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.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
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.8911C>T (p.Gln2971Ter) rs1565607653
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.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer)
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6401_6402CT[1] (p.Leu2135fs)
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.4(ATM):c.6743dup (p.Asp2249fs)
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs)
NM_000051.4(ATM):c.6914_6915AG[1] (p.Leu2307fs) rs878853535
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.7729del (p.Glu2576_Val2577insTer)
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
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.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
NM_000051.4(ATM):c.8831_8832CT[1] (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
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_001330368.2(C11orf65):c.640+20528_640+20538del rs587782847
NM_001330368.2(C11orf65):c.641-1117delinsAGG rs587779851
NM_001330368.2(C11orf65):c.641-18595dup rs587781299
NM_001330368.2(C11orf65):c.641-18597_641-18594del rs786203421
NM_001330368.2(C11orf65):c.641-22376CT[2] rs587781905
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-22881_641-22880del rs759965045
NM_001330368.2(C11orf65):c.641-26826CA[3] rs1555128432
NM_001330368.2(C11orf65):c.641-26890_641-26886del rs730881294
NM_001330368.2(C11orf65):c.641-34204_641-34203delinsT rs1060501630
NM_001330368.2(C11orf65):c.641-34255_641-34252del rs1064793046
NM_001330368.2(C11orf65):c.641-38278dup rs753961188
NM_001330368.2(C11orf65):c.641-6752dup rs1555113505
NM_001330368.2(C11orf65):c.641-6791_641-6789delinsACTTCTGTAGATTTCTAAGAGAAGTATAA rs1565498886
NM_001330368.2(C11orf65):c.641-6794dup rs797045030
NM_001330368.2(C11orf65):c.641-8330del rs786203008

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.