ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_000051.3(ATM):c.5853delC (p.Phe1952Leufs) rs1555110418
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dupAAAGTAT (p.Met1967Ilefs) rs1555110517
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
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_5983delTAAAG (p.Ser1993Argfs) rs876660134
NM_000051.3(ATM):c.5980A>T (p.Lys1994Ter)
NM_000051.3(ATM):c.5982dup (p.Glu1995Argfs)
NM_000051.3(ATM):c.6004C>T (p.Gln2002Ter)
NM_000051.3(ATM):c.6007_6029dup (p.Ser2011Ilefs)
NM_000051.3(ATM):c.6015dup (p.Glu2007Argfs) rs1438576066
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6044_6046delCAGinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015Leufs)
NM_000051.3(ATM):c.6049dupA (p.Ser2017Lysfs) rs797045030
NM_000051.3(ATM):c.6080delT (p.Leu2027Tyrfs) 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.6228delT (p.Leu2077Phefs) rs786203008
NM_000051.3(ATM):c.6237_6238delCT (p.Tyr2080Phefs) rs1555114623
NM_000051.3(ATM):c.6258T>G (p.Tyr2086Ter)
NM_000051.3(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.3(ATM):c.6404_6405insTT (p.Arg2136Terfs) rs587782554
NM_000051.3(ATM):c.6444dup (p.Tyr2149Ilefs) 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.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.6838C>T (p.Gln2280Ter)
NM_000051.3(ATM):c.6850delG (p.Val2284Leufs) rs876659569
NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) rs587781299
NM_000051.3(ATM):c.7000_7003delTACA (p.Tyr2334Glnfs) rs786203421
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 (p.Arg2506Thrfs) rs587781905
NM_000051.3(ATM):c.7542_7543delTA (p.Tyr2514Terfs) rs1555123981
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.7705_7706delGA (p.Asp2569Terfs) rs759965045
NM_000051.3(ATM):c.7777C>T (p.Gln2593Ter) rs781215442
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
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.7998dupT (p.Met2667Tyrfs) rs587779869
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.8213T>G (p.Leu2738Ter) rs773889320
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.8284C>T (p.Gln2762Ter)
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8371_8374delTACA (p.Tyr2791Glyfs) rs1064793046
NM_000051.3(ATM):c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs) rs786202800
NM_000051.3(ATM):c.8418+5_8418+8delGTGA rs730881295
NM_000051.3(ATM):c.8432delA (p.Lys2811Serfs) rs587782558
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
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.8655dupT (p.Val2886Cysfs) rs753961188
NM_000051.3(ATM):c.8682dup (p.Glu2895Terfs)
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8814_8824delGAGAAACTCTC (p.Met2938Ilefs) rs758814126
NM_000051.3(ATM):c.8833_8834delCT (p.Leu2945Valfs) rs786203030
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.8911C>T (p.Gln2971Ter)
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9047_9057del11 (p.Lys3016Serfs) rs587782847

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