Variants
ATM variants
The 808 ATM variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A911Rfs*19 | c.2730_2731insAG | Exon 18 | 108,268,501 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.2T>C | Exon 2 | 108,227,626 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.332-1G>A | Intron 4 | 108,235,669 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.496+5G>A | Intron 5 | 108,235,839 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1122_1123del | Exon 9 | 108,248,987 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1607+1G>T | Intron 10 | 108,251,073 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2251-2A>T | Intron 14 | 108,257,479 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2251-4A>G | Intron 14 | 108,257,477 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2466+5G>C | Intron 16 | 108,259,080 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2639-23_2639-21del | Intron 17 | 108,268,386 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3078-1G>A | Intron 20 | 108,272,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3576G>A3576G-A | Exon 24 | 108,281,168 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4909+1G>A | Intron 32 | 108,295,060 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5005+1G>T | Intron 33 | 108,297,383 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5177+1G>C | Intron 34 | 108,299,886 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5763-1G>C | Intron 38 | 108,310,159 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5763-1050A>G5762ins137 | Intron 38 | 108,309,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6372C>G | Exon 44 | 108,319,978 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6807G>A | Exon 46 | 108,325,544 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6976-2A>C | Intron 47 | 108,327,643 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7308-14T>G | Intron 49 | 108,330,200 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8268+1G>A | Intron 56 | 108,335,962 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8305_8306insA | Exon 57 | 108,343,258 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8585-2A>C | Intron 58 | 108,347,277 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8786+1G>AIVS60+1G>A | Intron 60 | 108,353,881 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.8987+2T>A | Intron 62 | 108,365,220 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C718Lfs*20 | c.2152dup | Exon 14 | 108,256,241 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C977R | c.2929T>C | Exon 20 | 108,271,258 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1286Afs*7 | c.3856del | Exon 26 | 108,284,335 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D130Ifs*23 | c.387del | Exon 5 | 108,235,722 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D2016G | c.6047A>G | Exon 41 | 108,315,863 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D2320Mfs*11 | c.6958del | Exon 47 | 108,326,206 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D2721N | c.8161G>A | Exon 56 | 108,335,854 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E73Mfs*26 | c.217_218del | Exon 4 | 108,229,207 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E522Ifs*43 | c.1564_1565del | Exon 10 | 108,251,025 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1072X | c.3214G>T | Exon 22 | 108,272,782 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1894Afs*9 | c.5681_5682del | Exon 38 | 108,307,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1463Lfs*10 | c.4389del | Exon 29 | 108,289,751 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1877Lfs*39 | c.5631_5635delinsA | Exon 37 | 108,304,809 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F2799Kfs*4 | c.8395_8404del | Exon 57 | 108,343,337 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F2827C | c.8480T>G | Exon 58 | 108,345,804 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F2831Tfs*24 | c.8491_8497del | Exon 58 | 108,345,811 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1746R | c.5236G>A | Exon 35 | 108,301,706 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1082Lfs*14 | c.3245_3247delinsTGAT | Exon 22 | 108,272,813 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I2702R | c.8105T>G | Exon 55 | 108,335,063 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K387Rfs*3 | c.1158del | Exon 9 | 108,249,023 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K468Efs*18 | c.1402_1403del | Exon 10 | 108,250,866 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1387X | c.4158dup | Exon 28 | 108,289,023 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1440X | c.4318A>T | Exon 29 | 108,289,683 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K2717T | c.8150A>C | Exon 55 | 108,335,108 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K2756X | c.8266A>T | Exon 56 | 108,335,959 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L275X | c.824del | Exon 7 | 108,244,946 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L481X | c.1442T>G | Exon 10 | 108,250,907 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L615P | c.1844T>C | Exon 12 | 108,252,858 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L762Vfs*2 | c.2284_2285del | Exon 15 | 108,257,511 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1046P | c.3137T>C | Exon 21 | 108,272,591 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1465P | c.4394T>C | Exon 29 | 108,289,759 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1764Yfs*12 | c.5290del | Exon 35 | 108,301,759 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1789Rfs*4 | c.5366del | Exon 36 | 108,302,898 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2046X | c.6136del | Exon 42 | 108,316,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2071X | c.6212T>A | Exon 43 | 108,317,386 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2307Cfs*65 | c.6916_6917del | Exon 47 | 108,326,163 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2452P | c.7355T>C | Exon 50 | 108,330,261 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2767P | c.8300T>C | Exon 57 | 108,343,253 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L3035F | c.9103C>T | Exon 63 | 108,365,440 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1719Ifs*5 | c.5156del | Exon 34 | 108,299,862 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N2736Yfs*10 | c.8206_8207del | Exon 56 | 108,335,898 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P292L | c.875C>T | Exon 7 | 108,245,000 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P955Wfs*13 | c.2862_2863del | Exon 19 | 108,271,086 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P2614Rfs*18 | c.7840_7841insGA | Exon 53 | 108,332,813 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P2829L | c.8486C>T | Exon 58 | 108,345,810 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q161Tfs*22 | c.480_484del | Exon 5 | 108,235,816 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q466X | c.1396C>T | Exon 10 | 108,250,861 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1117X | c.3349C>T | Exon 23 | 108,279,555 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1839X | c.5515C>T | Exon 37 | 108,304,693 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2220X | c.6658C>T | Exon 46 | 108,325,395 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2825X | c.8473C>T | Exon 58 | 108,345,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R23X | c.67C>T | Exon 2 | 108,227,691 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R248L | c.743G>T | Exon 7 | 108,244,868 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R250X | c.748C>T | Exon 7 | 108,244,873 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R805X | c.2413C>T | Exon 16 | 108,259,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1095K | c.3284G>A | Exon 22 | 108,272,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1095T | c.3284G>C | Exon 22 | 108,272,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1898X | c.5692C>T | Exon 38 | 108,307,914 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2136X | c.6404_6405insTT | Exon 44 | 108,320,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2832C | c.8494C>T | Exon 58 | 108,345,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2832L | c.8495G>T | Exon 58 | 108,345,819 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2849P | c.8546G>C | Exon 58 | 108,345,870 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R3008C | c.9022C>T | Exon 63 | 108,365,359 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R3008H | c.9023G>A | Exon 63 | 108,365,360 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R3047X | c.9139C>T | Exon 63 | 108,365,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S837Ifs*5 | c.2508dup | Exon 17 | 108,267,210 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2855_V2856delinsRI | c.8565_8566delinsAA | Exon 58 | 108,345,889 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2860del | c.8578_8580del | Exon 58 | 108,345,896 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T452Nfs*21 | c.1355del | Exon 10 | 108,250,819 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1743I | c.5228C>T | Exon 35 | 108,301,698 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T2333Nfs*40 | c.6997dup | Exon 48 | 108,327,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T2682S | c.8045C>G | Exon 55 | 108,335,003 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V595Cfs*19 | c.1782del | Exon 11 | 108,252,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1268X | c.3802del | Exon 26 | 108,284,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |