ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_000051.3(ATM):c.5763-2A>T rs876659489
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.5947dup (p.Ser1983fs) rs879254271
NM_000051.3(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer) rs1555111868
NM_000051.3(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.3(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.3(ATM):c.6384del (p.Leu2128fs) rs1555116427
NM_000051.3(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.3(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.3(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.3(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
NM_000051.3(ATM):c.6864_6865CT[1] (p.Val2288_Ser2289insTer) rs886039701
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.7253_7266del (p.Lys2418fs) rs1555122216
NM_000051.3(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7347dup (p.Leu2450fs) rs1555123008
NM_000051.3(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7929delA rs1064795550
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8564del (p.Ser2855fs) rs886039643
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8585-13_8598del27 rs1555139443
NM_000051.3(ATM):c.8585-2A>C rs1060501700
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.8851-2A>G rs886039647
NM_000051.3(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer) rs1064795675
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645

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