| NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001788284]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530150]|TERT-related condition [RCV003952826] |
Chr5:1264503 [GRCh38]
Chr5:1264618 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3186C>T (p.Ala1062=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257827]|Dyskeratosis congenita [RCV002324022]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530160]|TERT-related condition [RCV003925673]|not specified [RCV001821578] |
Chr5:1254477 [GRCh38]
Chr5:1254592 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1389C>T (p.Gly463=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530101] |
Chr5:1293497 [GRCh38]
Chr5:1293612 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2157C>G (p.Thr719=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530127] |
Chr5:1278770 [GRCh38]
Chr5:1278885 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1882G>A (p.Asp628Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530111] |
Chr5:1280226 [GRCh38]
Chr5:1280341 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2422G>A (p.Val808Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448758]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530139]|not provided [RCV001508162] |
Chr5:1271165 [GRCh38]
Chr5:1271280 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1314C>T (p.Pro438=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384206]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530099] |
Chr5:1293572 [GRCh38]
Chr5:1293687 [GRCh37]
Chr5:5p15.33 |
likely benign |
| Single allele |
duplication |
Interstitial lung disease 2 [RCV000547325] |
Chr5:1253722..1272286 [GRCh38]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.555G>C (p.Arg185=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350336]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103810]|TERT-related condition [RCV003900214] |
Chr5:1294331 [GRCh38]
Chr5:1294446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2885G>A (p.Arg962His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438462]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530154]|Dyskeratosis congenita, autosomal dominant 2 [RCV003230269] |
Chr5:1260559 [GRCh38]
Chr5:1260674 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1953C>T (p.Ala651=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255152]|Dyskeratosis congenita [RCV002420492]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530119]|TERT-related condition [RCV003960367]|not specified [RCV001821574] |
Chr5:1279468 [GRCh38]
Chr5:1279583 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2581G>A (p.Gly861Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530146]|Pulmonary fibrosis [RCV002509435]|not provided [RCV003322785] |
Chr5:1268521 [GRCh38]
Chr5:1268636 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.724G>C (p.Ala242Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377134]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530174]|not provided [RCV003105957] |
Chr5:1294162 [GRCh38]
Chr5:1294277 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2772C>T (p.Ala924=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438460]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530152] |
Chr5:1264475 [GRCh38]
Chr5:1264590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.838G>A (p.Glu280Lys) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316717]|Dyskeratosis congenita [RCV002255456]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530177]|Interstitial lung disease 2 [RCV000987502]|not provided [RCV001576510]|not specified [RCV001821580] |
Chr5:1294048 [GRCh38]
Chr5:1294163 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3063T>C (p.Phe1021=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530157] |
Chr5:1255381 [GRCh38]
Chr5:1255496 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1680C>A (p.Phe560Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530106] |
Chr5:1282518 [GRCh38]
Chr5:1282633 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2583-2A>C |
single nucleotide variant |
Interstitial lung disease 2 [RCV000032386]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030625] |
Chr5:1266537 [GRCh38]
Chr5:1266652 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| TERT:c.1710G>Y (p.Lys570Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032369] |
Chr5:1282488 [GRCh38]
Chr5:1282603 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| TERT, -57, T-G, PROMOTER |
single nucleotide variant |
Cutaneous malignant melanoma 9 [RCV000034312] |
Chr5:5p15.33 |
risk factor |
| NM_198253.3(TERT):c.2130+100C>T |
single nucleotide variant |
not provided [RCV001571244] |
Chr5:1279191 [GRCh38]
Chr5:1279306 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NG_009265.1:g.3677T>C |
single nucleotide variant |
Coronary artery disease, susceptibility to [RCV000013571] |
Chr5:5p15.33 |
risk factor|uncertain significance |
| NM_198253.3(TERT):c.2356C>T (p.Leu786=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448757]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530137] |
Chr5:1272211 [GRCh38]
Chr5:1272326 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286C>T (p.His762=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530135]|TERT-related condition [RCV003960369] |
Chr5:1278641 [GRCh38]
Chr5:1278756 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1989C>T (p.Ser663=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420493]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530121] |
Chr5:1279432 [GRCh38]
Chr5:1279547 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1068C>T (p.Gly356=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413589]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530092] |
Chr5:1293818 [GRCh38]
Chr5:1293933 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1250C>T (p.Ala417Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530095] |
Chr5:1293636 [GRCh38]
Chr5:1293751 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2475C>T (p.Tyr825=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456202]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530142]|not specified [RCV001821576] |
Chr5:1268627 [GRCh38]
Chr5:1268742 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2188G>A (p.Ala730Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530131]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476300] |
Chr5:1278739 [GRCh38]
Chr5:1278854 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2608T>A (p.Phe870Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104139]|not provided [RCV001508160] |
Chr5:1266510 [GRCh38]
Chr5:1266625 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2529C>G (p.Ser843Arg) |
single nucleotide variant |
not provided [RCV001508161] |
Chr5:1268573 [GRCh38]
Chr5:1268688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.286G>A (p.Val96Met) |
single nucleotide variant |
TERT-related condition [RCV003983922]|not provided [RCV001508167] |
Chr5:1294600 [GRCh38]
Chr5:1294715 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1202C>T (p.Ala401Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530094] |
Chr5:1293684 [GRCh38]
Chr5:1293799 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2016C>T (p.Arg672=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420494]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530123] |
Chr5:1279405 [GRCh38]
Chr5:1279520 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-4G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530138] |
Chr5:1271208 [GRCh38]
Chr5:1271323 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1728C>T (p.Tyr576=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413590]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103806] |
Chr5:1282470 [GRCh38]
Chr5:1282585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1829G>A (p.Arg610Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413592]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530109]|not provided [RCV003431098] |
Chr5:1280279 [GRCh38]
Chr5:1280394 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2165A>G (p.Gln722Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530128] |
Chr5:1278762 [GRCh38]
Chr5:1278877 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2081T>A (p.Val694Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530125]|Pulmonary fibrosis [RCV002509434]|not provided [RCV003228950]|not specified [RCV001821575] |
Chr5:1279340 [GRCh38]
Chr5:1279455 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384205]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530097] |
Chr5:1293579 [GRCh38]
Chr5:1293694 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3367C>G (p.Leu1123Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530165] |
Chr5:1253760 [GRCh38]
Chr5:1253875 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002408477]|Dyskeratosis congenita, autosomal dominant 2 [RCV000022783]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513175]|Interstitial lung disease 2 [RCV000032370]|Pulmonary fibrosis [RCV002509167]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000677344]|Telomere syndrome [RCV003325404]|not provided [RCV003150932] |
Chr5:1280216 [GRCh38]
Chr5:1280331 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele |
| NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) |
single nucleotide variant |
Autosomal recessive dyskeratosis congenita 4 [RCV000022784]|Dyskeratosis congenita, autosomal dominant 2 [RCV002051796]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513176]|Dyskeratosis congenita, autosomal recessive 1 [RCV000032383]|not provided [RCV001797047] |
Chr5:1271156 [GRCh38]
Chr5:1271271 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) |
single nucleotide variant |
Autosomal recessive dyskeratosis congenita 4 [RCV000022785]|Dyskeratosis congenita [RCV002426516]|Dyskeratosis congenita, autosomal dominant 2 [RCV003764630]|Dyskeratosis congenita, autosomal recessive 1 [RCV000032388] |
Chr5:1264546 [GRCh38]
Chr5:1264661 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) |
single nucleotide variant |
Autosomal recessive dyskeratosis congenita 4 [RCV000022786]|Dyskeratosis congenita [RCV002415443]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032375]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103717]|Dyskeratosis congenita, autosomal dominant 2 [RCV003460537]|Pulmonary fibrosis [RCV002509175]|not provided [RCV000520116] |
Chr5:1279311 [GRCh38]
Chr5:1279426 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.164T>A (p.Leu55Gln) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000032368]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030626] |
Chr5:1294826 [GRCh38]
Chr5:1294941 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.508G>A (p.Val170Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002513271]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473153]|Interstitial lung disease 2 [RCV000765805]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030628]|TERT-related condition [RCV003407372] |
Chr5:1294378 [GRCh38]
Chr5:1294493 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002513272]|Dyskeratosis congenita, autosomal dominant 2 [RCV003447479]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030629] |
Chr5:1278781 [GRCh38]
Chr5:1278896 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_198253.3(TERT):c.2705A>G (p.Lys902Arg) |
single nucleotide variant |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030630] |
Chr5:1264542 [GRCh38]
Chr5:1264657 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002433479]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513273]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000030631]|not provided [RCV001753435] |
Chr5:1264479 [GRCh38]
Chr5:1264594 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) |
single nucleotide variant |
Aplastic anemia [RCV000032393]|Breast carcinoma [RCV001262530]|Dyskeratosis congenita [RCV002321495]|Dyskeratosis congenita, autosomal dominant 2 [RCV000305704]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513302]|Leukemia, acute myeloid, susceptibility to [RCV000030632]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000395635]|not provided [RCV001573195]|not specified [RCV000151992] |
Chr5:1254479 [GRCh38]
Chr5:1254594 [GRCh37]
Chr5:5p15.33 |
pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_198253.3(TERT):c.604G>A (p.Ala202Thr) |
single nucleotide variant |
Aplastic anemia [RCV000032398]|Dyskeratosis congenita [RCV002255997]|Dyskeratosis congenita [RCV002354159]|Dyskeratosis congenita, autosomal dominant 2 [RCV000758251]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513013]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013566]|TERT-related condition [RCV003964798]|not provided [RCV000489117]|not specified [RCV000604322] |
Chr5:1294282 [GRCh38]
Chr5:1294397 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.1234C>T (p.His412Tyr) |
single nucleotide variant |
Acute myeloid leukemia [RCV003224095]|Aplastic anemia [RCV000032365]|Autosomal recessive dyskeratosis congenita 4 [RCV000190902]|Dyskeratosis congenita [RCV002255259]|Dyskeratosis congenita [RCV002362581]|Dyskeratosis congenita, autosomal dominant 2 [RCV000262966]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513014]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013567]|not provided [RCV000425346]|not specified [RCV000218461] |
Chr5:1293652 [GRCh38]
Chr5:1293767 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.2080G>A (p.Val694Met) |
single nucleotide variant |
Aplastic anemia [RCV000032373]|Dyskeratosis congenita [RCV002415411]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513015]|Pulmonary fibrosis [RCV002509152]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013568]|TERT-related condition [RCV003415694]|not provided [RCV003441715] |
Chr5:1279341 [GRCh38]
Chr5:1279456 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) |
single nucleotide variant |
Aplastic anemia [RCV000032382]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013569] |
Chr5:1272252 [GRCh38]
Chr5:1272367 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.3268G>A (p.Val1090Met) |
single nucleotide variant |
Aplastic anemia [RCV000032394]|Dyskeratosis congenita, autosomal dominant 2 [RCV002254676]|Hereditary cancer-predisposing syndrome [RCV000708946]|Interstitial lung disease 2 [RCV000551770]|Interstitial lung disease 2 [RCV000987498]|Interstitial lung disease 2 [RCV002482862]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013570]|not provided [RCV003226897] |
Chr5:1254395 [GRCh38]
Chr5:1254510 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance|not provided |
| NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032389]|Dyskeratosis congenita, autosomal dominant 2 [RCV000013572] |
Chr5:1264541 [GRCh38]
Chr5:1264656 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2594G>A (p.Arg865His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002513016]|Dyskeratosis congenita, autosomal dominant 2 [RCV003460466]|Interstitial lung disease 2 [RCV000032385]|Pulmonary fibrosis [RCV002509153]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013573]|not provided [RCV000412959] |
Chr5:1266524 [GRCh38]
Chr5:1266639 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2240del (p.Val747fs) |
deletion |
Interstitial lung disease 2 [RCV000032381]|Pulmonary fibrosis [RCV002509154]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013574]|not provided [RCV001560896] |
Chr5:1278687 [GRCh38]
Chr5:1278802 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele|not provided |
| NM_198253.3(TERT):c.219+1G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002513017]|Interstitial lung disease 2 [RCV000032380]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000013575] |
Chr5:1294770 [GRCh38]
Chr5:1294885 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|not provided |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000050295] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.112del (p.Leu38fs) |
deletion |
Interstitial lung disease 2 [RCV000032364] |
Chr5:1294878 [GRCh38]
Chr5:1294993 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.1378_1380del (p.Gln460del) |
deletion |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032366] |
Chr5:1293506..1293508 [GRCh38]
Chr5:1293621..1293623 [GRCh37]
Chr5:5p15.33 |
benign|not provided |
| NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390127]|Dyskeratosis congenita, autosomal dominant 2 [RCV002514131]|Interstitial lung disease 2 [RCV000032367]|Pulmonary fibrosis [RCV002509174]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002326716] |
Chr5:1293430 [GRCh38]
Chr5:1293545 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032371] |
Chr5:1279392 [GRCh38]
Chr5:1279507 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032372] |
Chr5:1279376 [GRCh38]
Chr5:1279491 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2097C>T (p.Ala699=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003315528]|Aplastic anemia [RCV000269651]|Dyskeratosis congenita [RCV002415442]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032374]|Dyskeratosis congenita, autosomal dominant 2 [RCV000309462]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513298]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000364255]|not provided [RCV001711215]|not specified [RCV000214735] |
Chr5:1279324 [GRCh38]
Chr5:1279439 [GRCh37]
Chr5:5p15.33 |
benign|not provided |
| NM_198253.3(TERT):c.2147C>T (p.Ala716Val) |
single nucleotide variant |
Aplastic anemia [RCV000032376]|Dyskeratosis congenita [RCV002426531]|Dyskeratosis congenita, autosomal dominant 2 [RCV002514132]|not provided [RCV001576802] |
Chr5:1278780 [GRCh38]
Chr5:1278895 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032377] |
Chr5:1278765 [GRCh38]
Chr5:1278880 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2177C>T (p.Thr726Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032378]|Dyskeratosis congenita, autosomal dominant 2 [RCV002514133]|Dyskeratosis congenita, autosomal dominant 2 [RCV003466884]|Interstitial lung disease 2 [RCV000987499]|TERT-related condition [RCV003407387]|not provided [RCV003137552]|not specified [RCV001818203] |
Chr5:1278750 [GRCh38]
Chr5:1278865 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely benign|uncertain significance|not provided |
| NM_198253.3(TERT):c.2178G>A (p.Thr726=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426532]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032379]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513299]|TERT-related condition [RCV003964826] |
Chr5:1278749 [GRCh38]
Chr5:1278864 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|not provided |
| NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) |
single nucleotide variant |
Aplastic anemia [RCV000032384] |
Chr5:1268565 [GRCh38]
Chr5:1268680 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2628C>G (p.His876Gln) |
single nucleotide variant |
Aplastic anemia [RCV000032387] |
Chr5:1266490 [GRCh38]
Chr5:1266605 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) |
single nucleotide variant |
Aplastic anemia [RCV000144245]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032390]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513300]|Pulmonary fibrosis [RCV002509176] |
Chr5:1260509 [GRCh38]
Chr5:1260624 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.3039C>T (p.His1013=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003315529]|Aplastic anemia [RCV000370198]|Dyskeratosis congenita [RCV002444451]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032391]|Dyskeratosis congenita, autosomal dominant 2 [RCV000316750]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513301]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000277923]|not provided [RCV001711137]|not specified [RCV000151994] |
Chr5:1255405 [GRCh38]
Chr5:1255520 [GRCh37]
Chr5:5p15.33 |
benign|not provided |
| NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) |
single nucleotide variant |
Aplastic anemia [RCV000032392] |
Chr5:1255401 [GRCh38]
Chr5:1255516 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002514134]|Dyskeratosis congenita, autosomal dominant 2 [RCV003460538]|Interstitial lung disease 2 [RCV000032395]|Interstitial lung disease 2 [RCV002482937]|Pulmonary fibrosis [RCV002509177]|not provided [RCV003329237] |
Chr5:1253798 [GRCh38]
Chr5:1253913 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.*6_*182del |
deletion |
Interstitial lung disease 2 [RCV000032396] |
Chr5:1253546..1253722 [GRCh38]
Chr5:1253661..1253837 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.430G>A (p.Val144Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002513303]|Interstitial lung disease 2 [RCV000032397]|Pulmonary fibrosis [RCV002509178]|not provided [RCV000256024] |
Chr5:1294456 [GRCh38]
Chr5:1294571 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele|uncertain significance|not provided |
| NM_198253.3(TERT):c.835G>A (p.Ala279Thr) |
single nucleotide variant |
Aplastic anemia [RCV000032399]|Dyskeratosis congenita [RCV002433483]|Dyskeratosis congenita, autosomal dominant 2 [RCV000391188]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513304]|Malignant tumor of breast [RCV001269369]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000295005]|not provided [RCV001534715]|not specified [RCV000176003] |
Chr5:1294051 [GRCh38]
Chr5:1294166 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|conflicting interpretations of pathogenicity |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003315530]|Aplastic anemia [RCV000144244]|Dyskeratosis congenita [RCV002371804]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032400]|Dyskeratosis congenita, autosomal dominant 2 [RCV000259572]|Dyskeratosis congenita, autosomal dominant 2 [RCV002513305]|Interstitial lung disease 2 [RCV002504852]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000354373]|not provided [RCV001711216]|not specified [RCV000151999] |
Chr5:1293971 [GRCh38]
Chr5:1294086 [GRCh37]
Chr5:5p15.33 |
benign|not provided |
| NM_198253.3(TERT):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000032401]|Pulmonary fibrosis [RCV002509179] |
Chr5:1294893 [GRCh38]
Chr5:1295008 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele|not provided |
| GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 |
copy number loss |
See cases [RCV000050885] |
Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 |
copy number loss |
See cases [RCV000050655] |
Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 |
copy number loss |
See cases [RCV000051100] |
Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 |
copy number gain |
See cases [RCV000051811] |
Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 |
copy number gain |
See cases [RCV000051808] |
Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 |
copy number gain |
See cases [RCV000051809] |
Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 |
copy number loss |
See cases [RCV000053397] |
Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 |
copy number loss |
See cases [RCV000053398] |
Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 |
copy number loss |
See cases [RCV000053399] |
Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 |
copy number loss |
See cases [RCV000053400] |
Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] |
Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 |
copy number loss |
See cases [RCV000053416] |
Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] |
Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] |
Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 |
copy number loss |
See cases [RCV000053419] |
Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 |
copy number loss |
See cases [RCV000053420] |
Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 |
copy number loss |
See cases [RCV000053421] |
Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 |
copy number loss |
See cases [RCV000053422] |
Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 |
copy number loss |
See cases [RCV000053423] |
Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 |
copy number loss |
See cases [RCV000053424] |
Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 |
copy number loss |
See cases [RCV000053444] |
Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] |
Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_198253.3(TERT):c.142C>G (p.Arg48Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV000660546] |
Chr5:1294848 [GRCh38]
Chr5:1294963 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2354C>A (p.Pro785Gln) |
single nucleotide variant |
not provided [RCV000087256] |
Chr5:1272213 [GRCh38]
Chr5:1272328 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1797G>A (p.Arg599=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413982]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554034] |
Chr5:1280311 [GRCh38]
Chr5:1280426 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1927A>G (p.Arg643Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547477] |
Chr5:1280181 [GRCh38]
Chr5:1280296 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+1G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002443033]|Dyskeratosis congenita, autosomal dominant 2 [RCV002675447] |
Chr5:1278640 [GRCh38]
Chr5:1278755 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_198253.3(TERT):c.1624G>T (p.Ala542Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166631]|Dyskeratosis congenita, autosomal dominant 2 [RCV001293958] |
Chr5:1282574 [GRCh38]
Chr5:1282689 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3296-5C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544644] |
Chr5:1253836 [GRCh38]
Chr5:1253951 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.442G>T (p.Val148Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550386] |
Chr5:1294444 [GRCh38]
Chr5:1294559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1238G>A (p.Cys413Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544635] |
Chr5:1293648 [GRCh38]
Chr5:1293763 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 |
copy number gain |
See cases [RCV000133788] |
Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.1023G>A (p.Leu341=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564141] |
Chr5:1293863 [GRCh38]
Chr5:1293978 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 |
copy number loss |
See cases [RCV000133796] |
Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 |
copy number loss |
See cases [RCV000133768] |
Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3 |
copy number gain |
See cases [RCV000135385] |
Chr5:1085824..1315406 [GRCh38]
Chr5:1085939..1315521 [GRCh37]
Chr5:1138939..1368521 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 |
copy number gain |
See cases [RCV000135393] |
Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 |
copy number loss |
See cases [RCV000134873] |
Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 |
copy number loss |
See cases [RCV000135668] |
Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 |
copy number loss |
See cases [RCV000135878] |
Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 |
copy number loss |
See cases [RCV000136556] |
Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 |
copy number gain |
See cases [RCV000135933] |
Chr5:924086..1544344 [GRCh38]
Chr5:924201..1544459 [GRCh37]
Chr5:977201..1597459 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 |
copy number loss |
See cases [RCV000136900] |
Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 |
copy number loss |
See cases [RCV000137072] |
Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 |
copy number gain |
See cases [RCV000136943] |
Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 |
copy number gain |
See cases [RCV000137682] |
Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 |
copy number loss |
See cases [RCV000137165] |
Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 |
copy number loss |
See cases [RCV000138116] |
Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 |
copy number loss |
See cases [RCV000138215] |
Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 |
copy number loss |
See cases [RCV000138099] |
Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 |
copy number loss |
See cases [RCV000137942] |
Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 |
copy number loss |
See cases [RCV000137884] |
Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 |
copy number loss |
See cases [RCV000137915] |
Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:821764-1271935)x3 |
copy number gain |
See cases [RCV000137788] |
Chr5:821764..1271935 [GRCh38]
Chr5:821879..1272050 [GRCh37]
Chr5:874879..1325050 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 |
copy number gain |
See cases [RCV000137806] |
Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 |
copy number loss |
See cases [RCV000138888] |
Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 |
copy number loss |
See cases [RCV000138553] |
Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 |
copy number loss |
See cases [RCV000138288] |
Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1 |
likely benign |
| GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 |
copy number gain |
See cases [RCV000139303] |
Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:1246589-1257341)x3 |
copy number gain |
See cases [RCV000139138] |
Chr5:1246589..1257341 [GRCh38]
Chr5:1246704..1257456 [GRCh37]
Chr5:1299704..1310456 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:1286182-1296349)x1 |
copy number loss |
See cases [RCV000140361] |
Chr5:1286182..1296349 [GRCh38]
Chr5:1286297..1296464 [GRCh37]
Chr5:1339297..1349464 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33(chr5:22149-3619159) |
copy number gain |
See cases [RCV000139908] |
Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:965217-1528677)x3 |
copy number gain |
See cases [RCV000139630] |
Chr5:965217..1528677 [GRCh38]
Chr5:965332..1528792 [GRCh37]
Chr5:1018332..1581792 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 |
copy number loss |
See cases [RCV000141225] |
Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 |
copy number loss |
See cases [RCV000141244] |
Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 |
copy number loss |
See cases [RCV000140964] |
Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 |
copy number loss |
See cases [RCV000141930] |
Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 |
copy number loss |
See cases [RCV000141844] |
Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 |
copy number loss |
See cases [RCV000141898] |
Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 |
copy number loss |
See cases [RCV000142183] |
Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 |
copy number loss |
See cases [RCV000143022] |
Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 |
copy number loss |
See cases [RCV000143018] |
Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 |
copy number loss |
See cases [RCV000142934] |
Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 |
copy number loss |
See cases [RCV000142697] |
Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 |
copy number loss |
See cases [RCV000142645] |
Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 |
copy number gain |
See cases [RCV000142646] |
Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 |
copy number loss |
See cases [RCV000143332] |
Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:1285489-1400393)x3 |
copy number gain |
See cases [RCV000143161] |
Chr5:1285489..1400393 [GRCh38]
Chr5:1285604..1400508 [GRCh37]
Chr5:1338604..1453508 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2708C>T (p.Thr903Ile) |
single nucleotide variant |
not specified [RCV000156582] |
Chr5:1264539 [GRCh38]
Chr5:1264654 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3032+7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002516056]|TERT-related condition [RCV003895043]|not specified [RCV000151995] |
Chr5:1258591 [GRCh38]
Chr5:1258706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2225G>A (p.Arg742His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426721]|Dyskeratosis congenita, autosomal dominant 2 [RCV002516057]|Pulmonary fibrosis [RCV002509248]|not provided [RCV001508164]|not specified [RCV000151996] |
Chr5:1278702 [GRCh38]
Chr5:1278817 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.3324G>A (p.Pro1108=) |
single nucleotide variant |
Aplastic anemia [RCV000333443]|Dyskeratosis congenita [RCV002321628]|Dyskeratosis congenita, autosomal dominant 2 [RCV000279564]|Dyskeratosis congenita, autosomal dominant 2 [RCV002514930]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000371746]|not provided [RCV001668306]|not specified [RCV000151991] |
Chr5:1253803 [GRCh38]
Chr5:1253918 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3105C>T (p.Val1035=) |
single nucleotide variant |
Aplastic anemia [RCV000399240]|Dyskeratosis congenita [RCV002256086]|Dyskeratosis congenita [RCV002321629]|Dyskeratosis congenita, autosomal dominant 2 [RCV000313027]|Dyskeratosis congenita, autosomal dominant 2 [RCV002514931]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000366513]|not provided [RCV001560519]|not specified [RCV000151993] |
Chr5:1255339 [GRCh38]
Chr5:1255454 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.1812A>G (p.Ala604=) |
single nucleotide variant |
Aplastic anemia [RCV000391810]|Dyskeratosis congenita [RCV002258814]|Dyskeratosis congenita [RCV002408674]|Dyskeratosis congenita, autosomal dominant 2 [RCV000302542]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103737]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000342127]|not provided [RCV001310842]|not specified [RCV000151997] |
Chr5:1280296 [GRCh38]
Chr5:1280411 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_198253.3(TERT):c.969G>A (p.Pro323=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003315941]|Dyskeratosis congenita [RCV002256087]|Dyskeratosis congenita [RCV002371997]|Dyskeratosis congenita, autosomal dominant 2 [RCV002516058]|not provided [RCV003457647]|not specified [RCV000151998] |
Chr5:1293917 [GRCh38]
Chr5:1294032 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000148250] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.3032+69G>A |
single nucleotide variant |
not specified [RCV000192569] |
Chr5:1258529 [GRCh38]
Chr5:1258644 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) |
microsatellite |
Acute myeloid leukemia [RCV000768107]|Aplastic anemia [RCV000370254]|Dyskeratosis Congenita, Recessive [RCV000275900]|Dyskeratosis congenita [RCV001261857]|Dyskeratosis congenita, autosomal dominant 2 [RCV002517983]|Hepatoblastoma [RCV001843492]|Interstitial lung disease 2 [RCV000312359]|TERT-related condition [RCV003917777]|not provided [RCV000726693]|not specified [RCV000192469] |
Chr5:1293561..1293563 [GRCh38]
Chr5:1293676..1293678 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 |
copy number loss |
See cases [RCV000515550] |
Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.1620C>G (p.Ile540Met) |
single nucleotide variant |
Acute myeloid leukemia [RCV000193118] |
Chr5:1282578 [GRCh38]
Chr5:1282693 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1990G>C (p.Val664Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV000515155]|Dyskeratosis congenita, autosomal dominant 2 [RCV003105822]|Myelodysplasia [RCV001172445]|not provided [RCV000194545] |
Chr5:1279431 [GRCh38]
Chr5:1279546 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.887A>C (p.His296Pro) |
single nucleotide variant |
Aplastic anemia [RCV000283392]|Dyskeratosis congenita, autosomal dominant 2 [RCV000378796]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518795]|Hepatocellular carcinoma [RCV000503276]|Interstitial lung disease 2 [RCV000765804]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000322037]|not provided [RCV002305476]|not specified [RCV001820800] |
Chr5:1293999 [GRCh38]
Chr5:1294114 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2752G>A (p.Ala918Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563715] |
Chr5:1264495 [GRCh38]
Chr5:1264610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 |
copy number loss |
See cases [RCV000240157] |
Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3 |
likely pathogenic |
| NM_198253.3(TERT):c.1700C>T (p.Thr567Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002401966]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518755]|not provided [RCV000255577] |
Chr5:1282498 [GRCh38]
Chr5:1282613 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 |
copy number loss |
See cases [RCV000449075] |
Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.1651G>A (p.Val551Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530104] |
Chr5:1282547 [GRCh38]
Chr5:1282662 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.687C>T (p.Ser229=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530168]|TERT-related condition [RCV003915595] |
Chr5:1294199 [GRCh38]
Chr5:1294314 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2973G>A (p.Val991=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530156] |
Chr5:1258657 [GRCh38]
Chr5:1258772 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2031C>T (p.Gly677=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316186]|Aplastic anemia [RCV000388691]|Dyskeratosis congenita [RCV002415891]|Dyskeratosis congenita, autosomal dominant 2 [RCV000275134]|Dyskeratosis congenita, autosomal dominant 2 [RCV002517455]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000334173]|not provided [RCV001640334]|not specified [RCV000218335] |
Chr5:1279390 [GRCh38]
Chr5:1279505 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002519656]|not specified [RCV000222388] |
Chr5:1268527 [GRCh38]
Chr5:1268642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.834C>A (p.Pro278=) |
single nucleotide variant |
Aplastic anemia [RCV001152947]|Dyskeratosis congenita [RCV002433929]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155583]|Dyskeratosis congenita, autosomal dominant 2 [RCV002517511]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152948]|not specified [RCV000218700] |
Chr5:1294052 [GRCh38]
Chr5:1294167 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.1950+10C>T |
single nucleotide variant |
Acute myeloid leukemia [RCV003316187]|Aplastic anemia [RCV000376013]|Dyskeratosis congenita, autosomal dominant 2 [RCV000281540]|Dyskeratosis congenita, autosomal dominant 2 [RCV002515613]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000330169]|not provided [RCV001540634]|not specified [RCV000221091] |
Chr5:1280148 [GRCh38]
Chr5:1280263 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 |
copy number gain |
not provided [RCV000234904] |
Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.2052C>T (p.Asp684=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420495]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103808] |
Chr5:1279369 [GRCh38]
Chr5:1279484 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2658C>A (p.Thr886=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426994]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519592]|TERT-related condition [RCV003967579]|not provided [RCV002247645]|not specified [RCV000219089] |
Chr5:1264589 [GRCh38]
Chr5:1264704 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2793C>T (p.Cys931=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257519]|Dyskeratosis congenita, autosomal dominant 2 [RCV002517510]|not specified [RCV000215099] |
Chr5:1264454 [GRCh38]
Chr5:1264569 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-7G>A |
single nucleotide variant |
Acute myeloid leukemia [RCV003316194]|Aplastic anemia [RCV001154648]|Dyskeratosis congenita [RCV002256125]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154647]|Dyskeratosis congenita, autosomal dominant 2 [RCV002517509]|Interstitial lung disease 2 [RCV002494561]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154649]|not provided [RCV003457653]|not specified [RCV000223338] |
Chr5:1282631 [GRCh38]
Chr5:1282746 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.810C>T (p.Phe270=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418034]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518388] |
Chr5:1294076 [GRCh38]
Chr5:1294191 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257604]|Dyskeratosis congenita [RCV002321894]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518363]|Interstitial lung disease 2 [RCV000987501]|not provided [RCV001701883]|not specified [RCV001820778] |
Chr5:1293748 [GRCh38]
Chr5:1293863 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2971-10G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002519813]|TERT-related condition [RCV003977695]|not provided [RCV003237799]|not specified [RCV001820781] |
Chr5:1258669 [GRCh38]
Chr5:1258784 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1269C>A (p.Ala423=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518364]|not provided [RCV003437031]|not specified [RCV000501224] |
Chr5:1293617 [GRCh38]
Chr5:1293732 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1143C>T (p.Arg381=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002450714]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519808] |
Chr5:1293743 [GRCh38]
Chr5:1293858 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518379] |
Chr5:1264398 [GRCh38]
Chr5:1264513 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.970G>A (p.Val324Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV003165658]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518390] |
Chr5:1293916 [GRCh38]
Chr5:1294031 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.544A>T (p.Thr182Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518386]|TERT-associated disorder [RCV000509110]|not provided [RCV000788746] |
Chr5:1294342 [GRCh38]
Chr5:1294457 [GRCh37]
Chr5:5p15.33 |
uncertain significance|not provided |
| NM_198253.3(TERT):c.3351C>T (p.Ala1117=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256179]|Dyskeratosis congenita [RCV002321897]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519815]|TERT-related condition [RCV003947801] |
Chr5:1253776 [GRCh38]
Chr5:1253891 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1589C>T (p.Pro530Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518368] |
Chr5:1282609 [GRCh38]
Chr5:1282724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256176]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518369]|Dyskeratosis congenita, autosomal dominant 2 [RCV003469172]|not provided [RCV001775705]|not specified [RCV001820780] |
Chr5:1280172 [GRCh38]
Chr5:1280287 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2991G>A (p.Val997=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316312]|Aplastic anemia [RCV001156515]|Dyskeratosis congenita [RCV002255342]|Dyskeratosis congenita [RCV002436049]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154849]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103748]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154848]|not specified [RCV001820782] |
Chr5:1258639 [GRCh38]
Chr5:1258754 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2106G>A (p.Pro702=) |
single nucleotide variant |
Aplastic anemia [RCV000273101]|Dyskeratosis congenita [RCV002418032]|Dyskeratosis congenita, autosomal dominant 2 [RCV000357715]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518372]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000302865]|not provided [RCV001529280]|not specified [RCV000250893] |
Chr5:1279315 [GRCh38]
Chr5:1279430 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.885C>T (p.Ser295=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374384]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518389] |
Chr5:1294001 [GRCh38]
Chr5:1294116 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1659C>T (p.Val553=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316310]|Aplastic anemia [RCV000405785]|Dyskeratosis congenita [RCV002401916]|Dyskeratosis congenita, autosomal dominant 2 [RCV000306277]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519810]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000346034]|not provided [RCV003736668]|not specified [RCV000243670] |
Chr5:1282539 [GRCh38]
Chr5:1282654 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2895G>A (p.Lys965=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436047]|Dyskeratosis congenita, autosomal dominant 2 [RCV003765460] |
Chr5:1260549 [GRCh38]
Chr5:1260664 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2355G>A (p.Pro785=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256177]|Dyskeratosis congenita [RCV002444932]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518374] |
Chr5:1272212 [GRCh38]
Chr5:1272327 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2769G>A (p.Pro923=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316311]|Dyskeratosis congenita [RCV002256178]|Dyskeratosis congenita [RCV002436045]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518377]|not provided [RCV000732368]|not specified [RCV000499661] |
Chr5:1264478 [GRCh38]
Chr5:1264593 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.339G>A (p.Glu113=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002450715]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518384] |
Chr5:1294547 [GRCh38]
Chr5:1294662 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255339]|Dyskeratosis congenita [RCV002379034]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518367]|TERT-related condition [RCV003930006]|not provided [RCV001356732]|not specified [RCV003151000] |
Chr5:1293550 [GRCh38]
Chr5:1293665 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1392C>T (p.Phe464=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316309]|Aplastic anemia [RCV001155484]|Dyskeratosis congenita [RCV002392724]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155482]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519809]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155483]|not provided [RCV001310843]|not specified [RCV001820779] |
Chr5:1293494 [GRCh38]
Chr5:1293609 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|benign|likely benign |
| NM_198253.3(TERT):c.3065A>T (p.His1022Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518381] |
Chr5:1255379 [GRCh38]
Chr5:1255494 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2001C>T (p.Tyr667=) |
single nucleotide variant |
Aplastic anemia [RCV001155364]|Dyskeratosis congenita [RCV002255340]|Dyskeratosis congenita [RCV002418031]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155365]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518370]|Interstitial lung disease 2 [RCV000987500]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155363]|TERT-related condition [RCV003939902] |
Chr5:1279420 [GRCh38]
Chr5:1279535 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2775C>T (p.His925=) |
single nucleotide variant |
Aplastic anemia [RCV000337468]|Dyskeratosis congenita [RCV002257605]|Dyskeratosis congenita [RCV002436046]|Dyskeratosis congenita, autosomal dominant 2 [RCV000850160]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518378]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000394221]|not provided [RCV001570724]|not specified [RCV000246715] |
Chr5:1264472 [GRCh38]
Chr5:1264587 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.3333G>A (p.Thr1111=) |
single nucleotide variant |
Aplastic anemia [RCV001158197]|Dyskeratosis congenita [RCV002321896]|Dyskeratosis congenita, autosomal dominant 2 [RCV001158196]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518383]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001158198]|not provided [RCV001668401]|not specified [RCV000501447] |
Chr5:1253794 [GRCh38]
Chr5:1253909 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2371G>A (p.Val791Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518376]|Dyskeratosis congenita, autosomal dominant 2 [RCV003325196]|not provided [RCV001549913] |
Chr5:1272196 [GRCh38]
Chr5:1272311 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1328C>G (p.Thr443Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379032]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518365] |
Chr5:1293558 [GRCh38]
Chr5:1293673 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.-57A>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002356314]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519807]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475834]|Malignant tumor of urinary bladder [RCV003332157]|Melanoma, cutaneous malignant, susceptibility to, 9 [RCV000034312]|not provided [RCV001820777] |
Chr5:1295046 [GRCh38]
Chr5:1295161 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.800A>G (p.Asp267Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003165657]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518387] |
Chr5:1294086 [GRCh38]
Chr5:1294201 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3330G>A (p.Thr1110=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002321895]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519814] |
Chr5:1253797 [GRCh38]
Chr5:1253912 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2098C>T (p.Gln700Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518371] |
Chr5:1279323 [GRCh38]
Chr5:1279438 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2946T>C (p.Cys982=) |
single nucleotide variant |
Aplastic anemia [RCV000378026]|Dyskeratosis congenita [RCV002436048]|Dyskeratosis congenita, autosomal dominant 2 [RCV000268068]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518380]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000323438]|not specified [RCV000250065] |
Chr5:1260498 [GRCh38]
Chr5:1260613 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2127C>G (p.Val709=) |
single nucleotide variant |
Aplastic anemia [RCV001154529]|Dyskeratosis congenita [RCV002418033]|Dyskeratosis congenita, autosomal dominant 2 [RCV001151518]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518373]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151517]|not provided [RCV003437032]|not specified [RCV000503916] |
Chr5:1279294 [GRCh38]
Chr5:1279409 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2255A>G (p.His752Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255341]|Dyskeratosis congenita [RCV002444931]|Dyskeratosis congenita, autosomal dominant 2 [RCV002519811]|not specified [RCV000502003] |
Chr5:1278672 [GRCh38]
Chr5:1278787 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2468+10G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518375] |
Chr5:1271109 [GRCh38]
Chr5:1271224 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3257G>A (p.Arg1086His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518382]|Dyskeratosis congenita, autosomal dominant 2 [RCV003469173]|not provided [RCV003126647]|not specified [RCV001820783] |
Chr5:1254406 [GRCh38]
Chr5:1254521 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) |
single nucleotide variant |
Acute myeloid leukemia [RCV001292603]|Dyskeratosis congenita [RCV002379033]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518366]|not provided [RCV003325475] |
Chr5:1293555 [GRCh38]
Chr5:1293670 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.534C>T (p.Leu178=) |
single nucleotide variant |
Aplastic anemia [RCV001151812]|Dyskeratosis congenita [RCV002256180]|Dyskeratosis congenita [RCV002347920]|Dyskeratosis congenita, autosomal dominant 2 [RCV001151813]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518385]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151811]|TERT-related condition [RCV003947802]|not provided [RCV001566142]|not specified [RCV000308506] |
Chr5:1294352 [GRCh38]
Chr5:1294467 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.3146C>G (p.Ala1049Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547711] |
Chr5:1255298 [GRCh38]
Chr5:1255413 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1270G>A (p.Gly424Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377509]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547715] |
Chr5:1293616 [GRCh38]
Chr5:1293731 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322315]|Dyskeratosis congenita, autosomal dominant 2 [RCV003106217] |
Chr5:1253804 [GRCh38]
Chr5:1253919 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2677G>C (p.Glu893Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550041] |
Chr5:1264570 [GRCh38]
Chr5:1264685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 |
copy number gain |
See cases [RCV000240016] |
Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_198253.3(TERT):c.803G>A (p.Arg268His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420830]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550113]|not specified [RCV001820074] |
Chr5:1294083 [GRCh38]
Chr5:1294198 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1268615)_(1268768_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104055] |
Chr5:1268615..1268768 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1272405_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003120588]|Interstitial lung disease 2 [RCV001374345] |
Chr5:1253843..1272405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2448C>T (p.His816=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456201]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530140] |
Chr5:1271139 [GRCh38]
Chr5:1271254 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530113] |
Chr5:1279475 [GRCh38]
Chr5:1279590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1310C>T (p.Ala437Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530098] |
Chr5:1293576 [GRCh38]
Chr5:1293691 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.492C>T (p.Pro164=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002341412]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530167]|TERT-related condition [RCV003900213] |
Chr5:1294394 [GRCh38]
Chr5:1294509 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV000855405]|Dyskeratosis congenita, autosomal dominant 2 [RCV002529360]|not specified [RCV000604673] |
Chr5:1260508 [GRCh38]
Chr5:1260623 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.1851G>A (p.Leu617=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414195]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104132]|not specified [RCV003151333] |
Chr5:1280257 [GRCh38]
Chr5:1280372 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-15C>T |
single nucleotide variant |
Aplastic anemia [RCV000283594]|Dyskeratosis congenita [RCV002255374]|Dyskeratosis congenita, autosomal dominant 2 [RCV000378023]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523501]|Interstitial lung disease 2 [RCV002488771]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000341534]|TERT-related condition [RCV003950241]|not provided [RCV001557080] |
Chr5:1271219 [GRCh38]
Chr5:1271334 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2781A>G (p.Leu927=) |
single nucleotide variant |
Aplastic anemia [RCV000376627]|Dyskeratosis congenita [RCV002436211]|Dyskeratosis congenita, autosomal dominant 2 [RCV000285766]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520298]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000343040] |
Chr5:1264466 [GRCh38]
Chr5:1264581 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2886C>T (p.Arg962=) |
single nucleotide variant |
Aplastic anemia [RCV000374647]|Dyskeratosis congenita [RCV002436210]|Dyskeratosis congenita, autosomal dominant 2 [RCV000319818]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523499]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000283455] |
Chr5:1260558 [GRCh38]
Chr5:1260673 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2382+20G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518670]|not specified [RCV000246441] |
Chr5:1272165 [GRCh38]
Chr5:1272280 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+16G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002411131]|Dyskeratosis congenita, autosomal dominant 2 [RCV003105841]|not specified [RCV000248852] |
Chr5:1282413 [GRCh38]
Chr5:1282528 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2185A>G (p.Ile729Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431674]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530130]|TERT-related condition [RCV003409810]|not provided [RCV003228951] |
Chr5:1278742 [GRCh38]
Chr5:1278857 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2520G>A (p.Leu840=) |
single nucleotide variant |
Aplastic anemia [RCV000275523]|Dyskeratosis congenita [RCV002450788]|Dyskeratosis congenita, autosomal dominant 2 [RCV000330688]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518671]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000356266]|not specified [RCV000241723] |
Chr5:1268582 [GRCh38]
Chr5:1268697 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.1849C>T (p.Leu617=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316456]|Aplastic anemia [RCV000287182]|Dyskeratosis congenita [RCV002411132]|Dyskeratosis congenita, autosomal dominant 2 [RCV000372475]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518668]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000336462]|not provided [RCV001580477]|not specified [RCV000244189] |
Chr5:1280259 [GRCh38]
Chr5:1280374 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2654+10G>A |
single nucleotide variant |
Aplastic anemia [RCV000367753]|Dyskeratosis congenita, autosomal dominant 2 [RCV000274620]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520299]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000315371]|TERT-related condition [RCV003957812] |
Chr5:1266454 [GRCh38]
Chr5:1266569 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.1449C>T (p.Asn483=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002392779]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518667]|not specified [RCV000251878] |
Chr5:1293437 [GRCh38]
Chr5:1293552 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2256T>C (p.His752=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446497]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518669]|not provided [RCV003430811]|not specified [RCV000254471] |
Chr5:1278671 [GRCh38]
Chr5:1278786 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256186]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518756]|not provided [RCV000256149] |
Chr5:1271132 [GRCh38]
Chr5:1271247 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2517G>A (p.Thr839=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316457]|Aplastic anemia [RCV000326757]|Dyskeratosis congenita [RCV002255351]|Dyskeratosis congenita [RCV002429192]|Dyskeratosis congenita, autosomal dominant 2 [RCV000787040]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103751]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000370894]|not provided [RCV001701926]|not specified [RCV000249762] |
Chr5:1268585 [GRCh38]
Chr5:1268700 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530149] |
Chr5:1264545 [GRCh38]
Chr5:1264660 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.*63C>T |
single nucleotide variant |
Aplastic anemia [RCV000386557]|Dyskeratosis congenita, autosomal dominant 2 [RCV000276107]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000329677]|not provided [RCV001567904] |
Chr5:1253665 [GRCh38]
Chr5:1253780 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 |
copy number loss |
See cases [RCV000240389] |
Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_198253.3(TERT):c.219+7C>T |
single nucleotide variant |
Aplastic anemia [RCV000266345]|Dyskeratosis congenita [RCV002418210]|Dyskeratosis congenita, autosomal dominant 2 [RCV000357781]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520305]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000324023]|TERT-related condition [RCV003970015]|not provided [RCV001528455]|not specified [RCV000613962] |
Chr5:1294764 [GRCh38]
Chr5:1294879 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.*99C>T |
single nucleotide variant |
Aplastic anemia [RCV000364484]|Dyskeratosis congenita, autosomal dominant 2 [RCV000272214]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000307923]|not provided [RCV001653683]|not specified [RCV003488565] |
Chr5:1253629 [GRCh38]
Chr5:1253744 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.*153C>T |
single nucleotide variant |
Aplastic anemia [RCV000400797]|Dyskeratosis congenita, autosomal dominant 2 [RCV000339286]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000300731] |
Chr5:1253575 [GRCh38]
Chr5:1253690 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2582+11C>T |
single nucleotide variant |
Acute myeloid leukemia [RCV003316498]|Aplastic anemia [RCV000301516]|Dyskeratosis congenita, autosomal dominant 2 [RCV000395802]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520300]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000355157]|not provided [RCV002293433] |
Chr5:1268509 [GRCh38]
Chr5:1268624 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2391C>G (p.Ser797=) |
single nucleotide variant |
Aplastic anemia [RCV000328047]|Dyskeratosis congenita [RCV002255373]|Dyskeratosis congenita [RCV002450924]|Dyskeratosis congenita, autosomal dominant 2 [RCV000291722]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520301]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000381346]|not provided [RCV001584066]|not specified [RCV001821074] |
Chr5:1271196 [GRCh38]
Chr5:1271311 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) |
single nucleotide variant |
Aplastic anemia [RCV000398654]|Dyskeratosis congenita [RCV002255372]|Dyskeratosis congenita, autosomal dominant 2 [RCV000344253]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523498]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000309581]|not provided [RCV002509370]|not specified [RCV001815383] |
Chr5:1255294 [GRCh38]
Chr5:1255409 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.*230T>C |
single nucleotide variant |
Aplastic anemia [RCV000334997]|Dyskeratosis congenita, autosomal dominant 2 [RCV000296334]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000395895] |
Chr5:1253498 [GRCh38]
Chr5:1253613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.572G>C (p.Ser191Thr) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316499]|Aplastic anemia [RCV000354116]|Dyskeratosis congenita [RCV002257653]|Dyskeratosis congenita [RCV002348103]|Dyskeratosis congenita, autosomal dominant 2 [RCV000404356]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520304]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000296917]|TERT-related condition [RCV003922543]|not provided [RCV003137968]|not specified [RCV001821075] |
Chr5:1294314 [GRCh38]
Chr5:1294429 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.663G>T (p.Ala221=) |
single nucleotide variant |
Aplastic anemia [RCV000403911]|Dyskeratosis congenita [RCV002365417]|Dyskeratosis congenita, autosomal dominant 2 [RCV000355603]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520303]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000312452] |
Chr5:1294223 [GRCh38]
Chr5:1294338 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) |
single nucleotide variant |
Aplastic anemia [RCV000283589]|Dyskeratosis congenita, autosomal dominant 2 [RCV000337401]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520296]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000375723] |
Chr5:1254472 [GRCh38]
Chr5:1254587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.150G>A (p.Leu50=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002392811]|Dyskeratosis congenita, autosomal dominant 2 [RCV002518081]|Interstitial lung disease 2 [RCV000764569]|TERT-related condition [RCV003967787]|not provided [RCV000385403] |
Chr5:1294840 [GRCh38]
Chr5:1294955 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.*104C>T |
single nucleotide variant |
Aplastic anemia [RCV000304398]|Dyskeratosis congenita, autosomal dominant 2 [RCV000361490]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000269203] |
Chr5:1253624 [GRCh38]
Chr5:1253739 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.184G>T (p.Ala62Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547734] |
Chr5:1294806 [GRCh38]
Chr5:1294921 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1570C>G (p.Pro524Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550050] |
Chr5:1293316 [GRCh38]
Chr5:1293431 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.58G>C (p.Glu20Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548637] |
Chr5:1294932 [GRCh38]
Chr5:1295047 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322353]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550124]|Dyskeratosis congenita, autosomal dominant 2 [RCV003462937] |
Chr5:1253789 [GRCh38]
Chr5:1253904 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.760G>A (p.Gly254Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002395849]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548669] |
Chr5:1294126 [GRCh38]
Chr5:1294241 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+229G>A |
single nucleotide variant |
not provided [RCV001566430] |
Chr5:1264175 [GRCh38]
Chr5:1264290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1365C>T (p.His455=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384207]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530100] |
Chr5:1293521 [GRCh38]
Chr5:1293636 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1219G>A (p.Val407Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547722] |
Chr5:1293667 [GRCh38]
Chr5:1293782 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.880C>T (p.His294Tyr) |
single nucleotide variant |
Aplastic anemia [RCV000383563]|Dyskeratosis congenita, autosomal dominant 2 [RCV000344137]|Dyskeratosis congenita, autosomal dominant 2 [RCV002520302]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000291477] |
Chr5:1294006 [GRCh38]
Chr5:1294121 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3369G>A (p.Leu1123=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456207]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103809] |
Chr5:1253758 [GRCh38]
Chr5:1253873 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1937G>A (p.Arg646His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413593]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530114] |
Chr5:1280171 [GRCh38]
Chr5:1280286 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.193C>G (p.Pro65Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256385]|Dyskeratosis congenita, autosomal dominant 2 [RCV001254604]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530117]|not provided [RCV003236816] |
Chr5:1294797 [GRCh38]
Chr5:1294912 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_198253.3(TERT):c.2580C>T (p.Asp860=) |
single nucleotide variant |
Aplastic anemia [RCV001153600]|Dyskeratosis congenita [RCV002431676]|Dyskeratosis congenita, autosomal dominant 2 [RCV001153601]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530145]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001153599] |
Chr5:1268522 [GRCh38]
Chr5:1268637 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) |
copy number loss |
5p partial monosomy syndrome [RCV000767710] |
Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_198253.3(TERT):c.193C>A (p.Pro65Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530116]|Pulmonary fibrosis [RCV002509433] |
Chr5:1294797 [GRCh38]
Chr5:1294912 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2666G>A (p.Arg889Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456205]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530148] |
Chr5:1264581 [GRCh38]
Chr5:1264696 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.645C>T (p.Gly215=) |
single nucleotide variant |
Aplastic anemia [RCV001157267]|Dyskeratosis congenita [RCV002367912]|Dyskeratosis congenita, autosomal dominant 2 [RCV001157268]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530173]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001157266]|not provided [RCV001529708]|not specified [RCV001821579] |
Chr5:1294241 [GRCh38]
Chr5:1294356 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.1913A>G (p.Tyr638Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530112] |
Chr5:1280195 [GRCh38]
Chr5:1280310 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2991del (p.Cys998fs) |
deletion |
Pulmonary fibrosis [RCV002509477]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002331097]|not provided [RCV000627447] |
Chr5:1258639 [GRCh38]
Chr5:1258754 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele |
| NM_198253.3(TERT):c.642G>A (p.Leu214=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002367911]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530172] |
Chr5:1294244 [GRCh38]
Chr5:1294359 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.2(TERT):c.(?_1574)_(1769_?)del |
deletion |
Dyskeratosis congenita [RCV000607452] |
Chr5:1282429..1282624 [GRCh38]
Chr5:1282544..1282739 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2901G>A (p.Gly967=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530155] |
Chr5:1260543 [GRCh38]
Chr5:1260658 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1957C>T (p.Arg653Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530120]|Dyskeratosis congenita, autosomal dominant 2 [RCV003470764] |
Chr5:1279464 [GRCh38]
Chr5:1279579 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.601C>T (p.Arg201Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002358566]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530170] |
Chr5:1294285 [GRCh38]
Chr5:1294400 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2009C>T (p.Ala670Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534823] |
Chr5:1279412 [GRCh38]
Chr5:1279527 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256386]|Dyskeratosis congenita [RCV002324024]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530163]|not provided [RCV002307542] |
Chr5:1253825 [GRCh38]
Chr5:1253940 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2527A>G (p.Ser843Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530143] |
Chr5:1268575 [GRCh38]
Chr5:1268690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1269C>T (p.Ala423=) |
single nucleotide variant |
Aplastic anemia [RCV001155486]|Dyskeratosis congenita [RCV002377133]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155485]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530096]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155487]|not specified [RCV001821573] |
Chr5:1293617 [GRCh38]
Chr5:1293732 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2221G>A (p.Val741Met) |
single nucleotide variant |
Acute myeloid leukemia [RCV000768106]|Dyskeratosis congenita [RCV002431675]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530132]|Dyskeratosis congenita, autosomal dominant 2 [RCV003470765]|not provided [RCV001559069] |
Chr5:1278706 [GRCh38]
Chr5:1278821 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2456G>A (p.Arg819His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530141] |
Chr5:1271131 [GRCh38]
Chr5:1271246 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1831G>A (p.Glu611Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530110] |
Chr5:1280277 [GRCh38]
Chr5:1280392 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3207C>T (p.Ala1069=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324023]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530161] |
Chr5:1254456 [GRCh38]
Chr5:1254571 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 |
copy number loss |
See cases [RCV000449097] |
Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 |
copy number gain |
See cases [RCV000446077] |
Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 |
copy number loss |
See cases [RCV000447672] |
Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 |
copy number loss |
See cases [RCV000447679] |
Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 |
copy number loss |
See cases [RCV000446974] |
Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 |
copy number loss |
See cases [RCV000447483] |
Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 |
copy number loss |
See cases [RCV000446677] |
Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 |
copy number loss |
See cases [RCV000446645] |
Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 |
copy number loss |
See cases [RCV000446523] |
Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 |
copy number loss |
See cases [RCV000446054] |
Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 |
copy number gain |
See cases [RCV000447632] |
Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 |
copy number loss |
See cases [RCV000446665] |
Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 |
copy number loss |
See cases [RCV000447462] |
Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 |
copy number loss |
See cases [RCV000448019] |
Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 |
copy number loss |
See cases [RCV000448521] |
Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 |
copy number loss |
See cases [RCV000448543] |
Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 |
copy number loss |
See cases [RCV000447780] |
Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 |
copy number loss |
See cases [RCV000448408] |
Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 |
copy number loss |
See cases [RCV000447737] |
Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 |
copy number gain |
See cases [RCV000447969] |
Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:1100067-1341964)x3 |
copy number gain |
See cases [RCV000448470] |
Chr5:1100067..1341964 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.633G>T (p.Gly211=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002367606]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525705] |
Chr5:1294253 [GRCh38]
Chr5:1294368 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1476G>A (p.Lys492=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525693] |
Chr5:1293410 [GRCh38]
Chr5:1293525 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.669G>A (p.Arg223=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003168918]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525696] |
Chr5:1294217 [GRCh38]
Chr5:1294332 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.297C>T (p.Phe99=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436512]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525703] |
Chr5:1294589 [GRCh38]
Chr5:1294704 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3110C>G (p.Ser1037Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323734]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523332] |
Chr5:1255334 [GRCh38]
Chr5:1255449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.146C>T (p.Ala49Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523343] |
Chr5:1294844 [GRCh38]
Chr5:1294959 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2970+7A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526493]|not provided [RCV001702788] |
Chr5:1260467 [GRCh38]
Chr5:1260582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.27C>A (p.Ala9=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003168833]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523331] |
Chr5:1294963 [GRCh38]
Chr5:1295078 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2072G>A (p.Arg691His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526972]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003338610]|not provided [RCV000479321] |
Chr5:1279349 [GRCh38]
Chr5:1279464 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 |
copy number loss |
See cases [RCV000512066] |
Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) |
single nucleotide variant |
Autosomal recessive dyskeratosis congenita 4 [RCV002264699]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523341]|Hoyeraal-Hreidarsson syndrome [RCV001753903]|Pulmonary fibrosis [RCV002509394]|Telomere syndrome [RCV003325407]|not provided [RCV001508166] |
Chr5:1279410 [GRCh38]
Chr5:1279525 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1896G>A (p.Pro632=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002411562]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525694]|not provided [RCV003431036]|not specified [RCV001821375] |
Chr5:1280212 [GRCh38]
Chr5:1280327 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1931C>T (p.Thr644Met) |
single nucleotide variant |
Chronic obstructive pulmonary disease [RCV002244939]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526430]|Dyskeratosis congenita, autosomal dominant 2 [RCV003463952]|Interstitial lung disease 2 [RCV002506127]|TERT-related condition [RCV003970289]|not provided [RCV002307507] |
Chr5:1280177 [GRCh38]
Chr5:1280292 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451126]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525585]|Dyskeratosis congenita, autosomal dominant 2 [RCV003463951]|not provided [RCV001753901] |
Chr5:1253823 [GRCh38]
Chr5:1253938 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-8C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525691] |
Chr5:1282632 [GRCh38]
Chr5:1282747 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.12T>C (p.Ala4=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383896]|Dyskeratosis congenita, autosomal dominant 2 [RCV003766634] |
Chr5:1294978 [GRCh38]
Chr5:1295093 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1731G>C (p.Arg577=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002402355]|Dyskeratosis congenita, autosomal dominant 2 [RCV003766633] |
Chr5:1282467 [GRCh38]
Chr5:1282582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.403G>A (p.Gly135Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001331997]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523330]|not provided [RCV003318581]|not specified [RCV001821284] |
Chr5:1294483 [GRCh38]
Chr5:1294598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526431]|not provided [RCV003228933] |
Chr5:1255326 [GRCh38]
Chr5:1255441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.536G>C (p.Gly179Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002348325]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103783] |
Chr5:1294350 [GRCh38]
Chr5:1294465 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1505A>G (p.Lys502Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393148]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103782] |
Chr5:1293381 [GRCh38]
Chr5:1293496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1569C>G (p.Ser523Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002402284]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523344] |
Chr5:1293317 [GRCh38]
Chr5:1293432 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.159G>C (p.Gln53His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523338]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476092]|Interstitial lung disease 2 [RCV000764568]|not provided [RCV003227759] |
Chr5:1294831 [GRCh38]
Chr5:1294946 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1854G>A (p.Thr618=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002411560]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525690] |
Chr5:1280254 [GRCh38]
Chr5:1280369 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1315G>C (p.Glu439Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526433]|Dyskeratosis congenita, autosomal dominant 2 [RCV003470476] |
Chr5:1293571 [GRCh38]
Chr5:1293686 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1968G>A (p.Ser656=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256312]|Dyskeratosis congenita [RCV002418475]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525683]|not specified [RCV001821370] |
Chr5:1279453 [GRCh38]
Chr5:1279568 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1907T>C (p.Met636Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002411495]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526434] |
Chr5:1280201 [GRCh38]
Chr5:1280316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.918C>A (p.Gly306=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374864]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525701] |
Chr5:1293968 [GRCh38]
Chr5:1294083 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.769G>T (p.Ala257Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523339]|not provided [RCV003151777] |
Chr5:1294117 [GRCh38]
Chr5:1294232 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1974G>A (p.Val658=) |
single nucleotide variant |
Aplastic anemia [RCV001157054]|Dyskeratosis congenita [RCV002257755]|Dyskeratosis congenita [RCV002418476]|Dyskeratosis congenita, autosomal dominant 2 [RCV001157052]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525684]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001157053]|TERT-related condition [RCV003960103]|not provided [RCV003431033]|not specified [RCV001821371] |
Chr5:1279447 [GRCh38]
Chr5:1279562 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1287G>A (p.Glu429=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003168917]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526492] |
Chr5:1293599 [GRCh38]
Chr5:1293714 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2091G>A (p.Val697=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418480]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525702]|TERT-related condition [RCV003970351] |
Chr5:1279330 [GRCh38]
Chr5:1279445 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.592G>C (p.Gly198Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525588]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476094] |
Chr5:1294294 [GRCh38]
Chr5:1294409 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523333]|Dyskeratosis congenita, autosomal dominant 2 [RCV003150816]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003150817] |
Chr5:1293324 [GRCh38]
Chr5:1293439 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1489C>T (p.Leu497=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393208]|Interstitial lung disease 2 [RCV001449155] |
Chr5:1293397 [GRCh38]
Chr5:1293512 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.45C>T (p.Arg15=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002341112]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525700]|not specified [RCV003320660] |
Chr5:1294945 [GRCh38]
Chr5:1295060 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-7A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525707] |
Chr5:1266542 [GRCh38]
Chr5:1266657 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+10G>A |
single nucleotide variant |
Aplastic anemia [RCV001151515]|Dyskeratosis congenita [RCV002418479]|Dyskeratosis congenita, autosomal dominant 2 [RCV001151514]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526490]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151516]|TERT-related condition [RCV003960105]|not provided [RCV001536535]|not specified [RCV000502349] |
Chr5:1279281 [GRCh38]
Chr5:1279396 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2007G>C (p.Arg669=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418478]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526489] |
Chr5:1279414 [GRCh38]
Chr5:1279529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2262C>T (p.His754=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316625]|Dyskeratosis congenita [RCV002446901]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525710]|TERT-related condition [RCV003970352] |
Chr5:1278665 [GRCh38]
Chr5:1278780 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.673G>C (p.Gly225Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002365653]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103781] |
Chr5:1294213 [GRCh38]
Chr5:1294328 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2141C>T (p.Thr714Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002429527]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525587]|Dyskeratosis congenita, autosomal dominant 2 [RCV003150818]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003150819]|not provided [RCV003233642] |
Chr5:1278786 [GRCh38]
Chr5:1278901 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2582+7C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526495]|TERT-related condition [RCV003942567]|not specified [RCV000502594] |
Chr5:1268513 [GRCh38]
Chr5:1268628 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.931T>A (p.Ser311Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374798]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523329]|not provided [RCV003229835]|not specified [RCV000501121] |
Chr5:1293955 [GRCh38]
Chr5:1294070 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2596T>C (p.Leu866=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436513]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103995] |
Chr5:1266522 [GRCh38]
Chr5:1266637 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2075C>T (p.Thr692Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526432] |
Chr5:1279346 [GRCh38]
Chr5:1279461 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1932G>A (p.Thr644=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316621]|Dyskeratosis congenita [RCV002411561]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525692]|Interstitial lung disease 2 [RCV002496837]|TERT-related condition [RCV003942566]|not specified [RCV001821374] |
Chr5:1280176 [GRCh38]
Chr5:1280291 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.606C>T (p.Ala202=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103794] |
Chr5:1294280 [GRCh38]
Chr5:1294395 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525697] |
Chr5:1279476 [GRCh38]
Chr5:1279591 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3252A>G (p.Arg1084=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446898]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525687]|TERT-related condition [RCV003970350] |
Chr5:1254411 [GRCh38]
Chr5:1254526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2118G>A (p.Leu706=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418477]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526488]|not specified [RCV001821373] |
Chr5:1279303 [GRCh38]
Chr5:1279418 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2465G>A (p.Gly822Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523340] |
Chr5:1271122 [GRCh38]
Chr5:1271237 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.327G>A (p.Gly109=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446899]|Interstitial lung disease 2 [RCV001498348]|not specified [RCV000501954] |
Chr5:1294559 [GRCh38]
Chr5:1294674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2345A>C (p.Glu782Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523342] |
Chr5:1272222 [GRCh38]
Chr5:1272337 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523335]|Interstitial lung disease 2 [RCV002489070]|TERT-related condition [RCV003899928]|not specified [RCV001821285] |
Chr5:1293778 [GRCh38]
Chr5:1293893 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.729C>T (p.Ala243=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316623]|Dyskeratosis congenita [RCV002383897]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525709] |
Chr5:1294157 [GRCh38]
Chr5:1294272 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.54C>T (p.Tyr18=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003168919]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525699] |
Chr5:1294936 [GRCh38]
Chr5:1295051 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523336] |
Chr5:1293744 [GRCh38]
Chr5:1293859 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+5G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523328] |
Chr5:1278636 [GRCh38]
Chr5:1278751 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1836C>G (p.Ala612=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316624]|Dyskeratosis congenita [RCV002411563]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526498]|TERT-related condition [RCV003960106]|not specified [RCV001821376] |
Chr5:1280272 [GRCh38]
Chr5:1280387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2405G>T (p.Ser802Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002523337] |
Chr5:1271182 [GRCh38]
Chr5:1271297 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323735]|Dyskeratosis congenita, autosomal dominant 2 [RCV002523334] |
Chr5:1253775 [GRCh38]
Chr5:1253890 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.942A>G (p.Pro314=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525686] |
Chr5:1293944 [GRCh38]
Chr5:1294059 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+7G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525695] |
Chr5:1264397 [GRCh38]
Chr5:1264512 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2476G>A (p.Val826Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103787] |
Chr5:1268626 [GRCh38]
Chr5:1268741 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525586]|Dyskeratosis congenita, autosomal dominant 2 [RCV003470475]|not provided [RCV001753902] |
Chr5:1254499 [GRCh38]
Chr5:1254614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-9del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526496] |
Chr5:1264601 [GRCh38]
Chr5:1264716 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3303G>A (p.Thr1101=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323805]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526487]|Interstitial lung disease 2 [RCV002496836]|not provided [RCV003431035] |
Chr5:1253824 [GRCh38]
Chr5:1253939 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.336dup (p.Glu113fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525584]|Interstitial lung disease 2 [RCV002481460]|Pulmonary fibrosis [RCV002509393] |
Chr5:1294549..1294550 [GRCh38]
Chr5:1294664..1294665 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele |
| NM_198253.3(TERT):c.2190C>T (p.Ala730=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418481]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526497]|Interstitial lung disease 2 [RCV002496838] |
Chr5:1278737 [GRCh38]
Chr5:1278852 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3165G>A (p.Ser1055=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323803]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526486]|not provided [RCV003431034] |
Chr5:1254498 [GRCh38]
Chr5:1254613 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3090A>G (p.Thr1030=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323804]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525689] |
Chr5:1255354 [GRCh38]
Chr5:1255469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.129C>T (p.Asp43=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383895]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103795]|TERT-related condition [RCV003960104]|not specified [RCV001821372] |
Chr5:1294861 [GRCh38]
Chr5:1294976 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.332C>G (p.Pro111Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103785] |
Chr5:1294554 [GRCh38]
Chr5:1294669 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2654+9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525704] |
Chr5:1266455 [GRCh38]
Chr5:1266570 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.602G>A (p.Arg201Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103784] |
Chr5:1294284 [GRCh38]
Chr5:1294399 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.522G>T (p.Pro174=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002341113]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525711] |
Chr5:1294364 [GRCh38]
Chr5:1294479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1211C>G (p.Pro404Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103786]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476093] |
Chr5:1293675 [GRCh38]
Chr5:1293790 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.82G>C (p.Val28Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002526429]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476091]|not provided [RCV001753900] |
Chr5:1294908 [GRCh38]
Chr5:1295023 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2307C>T (p.Leu769=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446900]|Dyskeratosis congenita, autosomal dominant 2 [RCV002526491] |
Chr5:1272260 [GRCh38]
Chr5:1272375 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2214G>A (p.Thr738=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431374]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525685] |
Chr5:1278713 [GRCh38]
Chr5:1278828 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1662C>T (p.Val554=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316622]|Dyskeratosis congenita [RCV002393209]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525706] |
Chr5:1282536 [GRCh38]
Chr5:1282651 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.320_328del (p.Ala107_Gly109del) |
deletion |
not specified [RCV000500956] |
Chr5:1294558..1294566 [GRCh38]
Chr5:1294673..1294681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 |
copy number loss |
See cases [RCV000510193] |
Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002524309]|not specified [RCV000503634] |
Chr5:1255344 [GRCh38]
Chr5:1255459 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.943C>A (p.Arg315Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002376930]|Dyskeratosis congenita, autosomal dominant 2 [RCV002524312]|not specified [RCV000503974] |
Chr5:1293943 [GRCh38]
Chr5:1294058 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.404G>C (p.Gly135Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002524313]|not specified [RCV000504002] |
Chr5:1294482 [GRCh38]
Chr5:1294597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-11_2844-10del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002527299]|not specified [RCV000501822] |
Chr5:1260610..1260611 [GRCh38]
Chr5:1260725..1260726 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1662C>G (p.Val554=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002404516]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530103] |
Chr5:1282536 [GRCh38]
Chr5:1282651 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-3777G>T |
single nucleotide variant |
Chronic obstructive pulmonary disease [RCV001788212]|Chronic osteomyelitis [RCV000497563]|Combined pulmonary fibrosis-emphysema syndrome [RCV002472373]|Dyskeratosis congenita, autosomal dominant 2 [RCV002524681]|Interstitial lung disease 2 [RCV001788211] |
Chr5:1286401 [GRCh38]
Chr5:1286516 [GRCh37]
Chr5:5p15.33 |
association|benign|uncertain significance |
| NM_198253.3(TERT):c.1951-205G>A |
single nucleotide variant |
Chronic osteomyelitis [RCV000498605]|Dyskeratosis congenita, autosomal dominant 2 [RCV002515603]|not provided [RCV001668373] |
Chr5:1279675 [GRCh38]
Chr5:1279790 [GRCh37]
Chr5:5p15.33 |
association|benign |
| NM_198253.2(TERT):c.-1382T>C |
single nucleotide variant |
Chronic osteomyelitis [RCV000498732]|Coronary artery disease, susceptibility to [RCV001787099] |
Chr5:1296371 [GRCh38]
Chr5:1296486 [GRCh37]
Chr5:5p15.33 |
association|uncertain significance |
| NM_198253.3(TERT):c.900C>T (p.Gly300=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002376929]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103998]|not specified [RCV000499826] |
Chr5:1293986 [GRCh38]
Chr5:1294101 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2004G>C (p.Glu668Asp) |
single nucleotide variant |
Hepatocellular carcinoma [RCV000499860] |
Chr5:1279417 [GRCh38]
Chr5:1279532 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.578C>T (p.Pro193Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003765575]|Hepatocellular carcinoma [RCV000500779] |
Chr5:1294308 [GRCh38]
Chr5:1294423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.200C>T (p.Ala67Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518794]|Hepatocellular carcinoma [RCV000502409] |
Chr5:1294790 [GRCh38]
Chr5:1294905 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2947C>T (p.His983Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002231191]|Dyskeratosis congenita, autosomal dominant 2 [RCV002527380]|not provided [RCV000509390] |
Chr5:1260497 [GRCh38]
Chr5:1260612 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance|not provided |
| NM_198253.3(TERT):c.337dup (p.Glu113fs) |
duplication |
Hepatocellular carcinoma [RCV000504167] |
Chr5:1294548..1294549 [GRCh38]
Chr5:1294663..1294664 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2058C>G (p.Ile686Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV000500038] |
Chr5:1279363 [GRCh38]
Chr5:1279478 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3281G>T (p.Gly1094Val) |
single nucleotide variant |
not specified [RCV000500190] |
Chr5:1254382 [GRCh38]
Chr5:1254497 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2301A>G (p.Thr767=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446981]|Dyskeratosis congenita, autosomal dominant 2 [RCV002524308]|TERT-related condition [RCV003900053]|not provided [RCV003437237]|not specified [RCV000500257] |
Chr5:1272266 [GRCh38]
Chr5:1272381 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1462C>T (p.Leu488Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002524311]|not specified [RCV000502511] |
Chr5:1293424 [GRCh38]
Chr5:1293539 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.264G>C (p.Leu88=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003159633]|Dyskeratosis congenita, autosomal dominant 2 [RCV002527298]|not specified [RCV000502707] |
Chr5:1294622 [GRCh38]
Chr5:1294737 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1990G>A (p.Val664Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003766790]|not provided [RCV000498135] |
Chr5:1279431 [GRCh38]
Chr5:1279546 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1609C>T (p.Arg537Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002524310]|not specified [RCV000500456] |
Chr5:1282589 [GRCh38]
Chr5:1282704 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2329G>A (p.Val777Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003766854]|TERT-related condition [RCV003409709]|not specified [RCV000500578] |
Chr5:1272238 [GRCh38]
Chr5:1272353 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.1884C>T (p.Asp628=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003316651]|Dyskeratosis congenita [RCV002257776]|Dyskeratosis congenita [RCV002413381]|Dyskeratosis congenita, autosomal dominant 2 [RCV002527297]|not specified [RCV000500716] |
Chr5:1280224 [GRCh38]
Chr5:1280339 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV000502929]|Dyskeratosis congenita, autosomal dominant 2 [RCV002524314] |
Chr5:1279410 [GRCh38]
Chr5:1279525 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) |
indel |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000500818] |
Chr5:1294306..1294307 [GRCh38]
Chr5:1294421..1294422 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002527300]|not provided [RCV001508163]|not specified [RCV000503102] |
Chr5:1278700 [GRCh38]
Chr5:1278815 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 |
copy number loss |
See cases [RCV000511494] |
Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 |
copy number loss |
See cases [RCV000511513] |
Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.343T>A (p.Phe115Ile) |
single nucleotide variant |
not specified [RCV000506962] |
Chr5:1294543 [GRCh38]
Chr5:1294658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.359G>C (p.Arg120Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002455980]|Dyskeratosis congenita, autosomal dominant 2 [RCV003766883]|not specified [RCV000507795] |
Chr5:1294527 [GRCh38]
Chr5:1294642 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_198253.3(TERT):c.782G>A (p.Arg261Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413595]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530176] |
Chr5:1294104 [GRCh38]
Chr5:1294219 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 |
copy number loss |
See cases [RCV000511088] |
Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 |
copy number loss |
See cases [RCV000510912] |
Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_198253.3(TERT):c.521_547dup (p.Pro174_Thr182dup) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533542] |
Chr5:1294338..1294339 [GRCh38]
Chr5:1294453..1294454 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 |
copy number loss |
See cases [RCV000510921] |
Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 |
copy number loss |
See cases [RCV000510786] |
Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.1514T>A (p.Leu505Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002395433]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530102]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476299] |
Chr5:1293372 [GRCh38]
Chr5:1293487 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1786G>T (p.Val596Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530108] |
Chr5:1280322 [GRCh38]
Chr5:1280437 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1951-7C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530118] |
Chr5:1279477 [GRCh38]
Chr5:1279592 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2239G>A (p.Val747Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530133] |
Chr5:1278688 [GRCh38]
Chr5:1278803 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2169C>T (p.Asp723=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420497]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530129]|TERT-related condition [RCV003983120] |
Chr5:1278758 [GRCh38]
Chr5:1278873 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.779G>A (p.Gly260Asp) |
single nucleotide variant |
Aplastic anemia [RCV003333079]|Dyskeratosis congenita [RCV002255455]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530175]|not provided [RCV002260647] |
Chr5:1294107 [GRCh38]
Chr5:1294222 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_198253.3(TERT):c.2802G>T (p.Leu934=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438461]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530153] |
Chr5:1264445 [GRCh38]
Chr5:1264560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1785G>A (p.Arg595=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413591]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530107] |
Chr5:1280323 [GRCh38]
Chr5:1280438 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.1914C>T (p.Tyr638=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103807] |
Chr5:1280194 [GRCh38]
Chr5:1280309 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2538C>T (p.Tyr846=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456203]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530144] |
Chr5:1268564 [GRCh38]
Chr5:1268679 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2283C>T (p.Ser761=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448756]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530134]|TERT-related condition [RCV003960368] |
Chr5:1278644 [GRCh38]
Chr5:1278759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2079C>T (p.Phe693=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420496]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530124]|Interstitial lung disease 2 [RCV002497171]|TERT-related condition [RCV003900212] |
Chr5:1279342 [GRCh38]
Chr5:1279457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-4A>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530126] |
Chr5:1278800 [GRCh38]
Chr5:1278915 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.258G>C (p.Gln86His) |
single nucleotide variant |
Telomere syndrome [RCV003325418] |
Chr5:1294628 [GRCh38]
Chr5:1294743 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.550G>A (p.Ala184Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530169]|not provided [RCV003105956] |
Chr5:1294336 [GRCh38]
Chr5:1294451 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-7C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530159] |
Chr5:1254512 [GRCh38]
Chr5:1254627 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.939A>G (p.Pro313=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530178] |
Chr5:1293947 [GRCh38]
Chr5:1294062 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2353C>G (p.Pro785Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530136]|not provided [RCV002466532] |
Chr5:1272214 [GRCh38]
Chr5:1272329 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2652C>T (p.Leu884=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456204]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530147]|not provided [RCV001770465] |
Chr5:1266466 [GRCh38]
Chr5:1266581 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456208]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530166] |
Chr5:1253741 [GRCh38]
Chr5:1253856 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2014C>T (p.Arg672Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530122]|TERT-related condition [RCV003905422]|not provided [RCV003325493] |
Chr5:1279407 [GRCh38]
Chr5:1279522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1939A>C (p.Arg647=) |
single nucleotide variant |
Aplastic anemia [RCV001157055]|Dyskeratosis congenita [RCV002413594]|Dyskeratosis congenita, autosomal dominant 2 [RCV001253988]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530115]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001157056] |
Chr5:1280169 [GRCh38]
Chr5:1280284 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2751G>A (p.Thr917=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438459]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530151]|not provided [RCV003457721]|not specified [RCV001821577] |
Chr5:1264496 [GRCh38]
Chr5:1264611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.968C>G (p.Pro323Arg) |
single nucleotide variant |
Aplastic anemia [RCV001157161]|Dyskeratosis congenita [RCV002377135]|Dyskeratosis congenita, autosomal dominant 2 [RCV001157162]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530179]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001157163]|not provided [RCV003126815] |
Chr5:1293918 [GRCh38]
Chr5:1294033 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1663G>C (p.Glu555Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002404517]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530105] |
Chr5:1282535 [GRCh38]
Chr5:1282650 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.619G>A (p.Val207Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530171]|not provided [RCV003148782]|not specified [RCV003151098] |
Chr5:1294267 [GRCh38]
Chr5:1294382 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3255C>T (p.His1085=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530162] |
Chr5:1254408 [GRCh38]
Chr5:1254523 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3154G>A (p.Ala1052Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324021]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530158] |
Chr5:1255290 [GRCh38]
Chr5:1255405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3363G>A (p.Pro1121=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257828]|Dyskeratosis congenita [RCV002456206]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530164] |
Chr5:1253764 [GRCh38]
Chr5:1253879 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1130G>A (p.Arg377His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530093] |
Chr5:1293756 [GRCh38]
Chr5:1293871 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 |
copy number loss |
See cases [RCV000512452] |
Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 |
copy number gain |
See cases [RCV000512567] |
Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.1417G>C (p.Val473Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530506]|Dyskeratosis congenita, autosomal dominant 2 [RCV003465412] |
Chr5:1293469 [GRCh38]
Chr5:1293584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1915G>A (p.Val639Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530507] |
Chr5:1280193 [GRCh38]
Chr5:1280308 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1046C>G (p.Ser349Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533361] |
Chr5:1293840 [GRCh38]
Chr5:1293955 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1526C>T (p.Thr509Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388122]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533362] |
Chr5:1293360 [GRCh38]
Chr5:1293475 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.873C>T (p.Gly291=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003162963]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533363] |
Chr5:1294013 [GRCh38]
Chr5:1294128 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1825C>T (p.His609Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406434]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533364] |
Chr5:1280283 [GRCh38]
Chr5:1280398 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1918G>A (p.Val640Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406435]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533365] |
Chr5:1280190 [GRCh38]
Chr5:1280305 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.153G>A (p.Val51=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397281]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533366] |
Chr5:1294837 [GRCh38]
Chr5:1294952 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1844C>T (p.Ala615Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533367] |
Chr5:1280264 [GRCh38]
Chr5:1280379 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.652G>A (p.Ala218Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533368]|Interstitial lung disease 2 [RCV000987503] |
Chr5:1294234 [GRCh38]
Chr5:1294349 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1048_1049del (p.Leu350fs) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533369]|Pulmonary fibrosis [RCV002509490] |
Chr5:1293837..1293838 [GRCh38]
Chr5:1293952..1293953 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely risk allele |
| NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533370] |
Chr5:1255333..1255334 [GRCh38]
Chr5:1255448..1255449 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.180G>C (p.Trp60Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530508] |
Chr5:1294810 [GRCh38]
Chr5:1294925 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1647G>A (p.Met549Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397282]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530509] |
Chr5:1282551 [GRCh38]
Chr5:1282666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530510] |
Chr5:1279416 [GRCh38]
Chr5:1279531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.301T>G (p.Phe101Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533371] |
Chr5:1294585 [GRCh38]
Chr5:1294700 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3117G>A (p.Thr1039=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325291]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533372]|not specified [RCV001816610] |
Chr5:1255327 [GRCh38]
Chr5:1255442 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255492]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533373]|not specified [RCV001816611] |
Chr5:1278699 [GRCh38]
Chr5:1278814 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.892T>A (p.Ser298Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369728]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533374] |
Chr5:1293994 [GRCh38]
Chr5:1294109 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2564C>T (p.Ala855Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533375] |
Chr5:1268538 [GRCh38]
Chr5:1268653 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1393G>C (p.Val465Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533376]|Interstitial lung disease 2 [RCV000765803]|TERT-related condition [RCV003980260]|not provided [RCV003236829] |
Chr5:1293493 [GRCh38]
Chr5:1293608 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3332C>T (p.Thr1111Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533377]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472037]|Hereditary breast ovarian cancer syndrome [RCV001374479] |
Chr5:1253795 [GRCh38]
Chr5:1253910 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1880C>G (p.Pro627Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406436]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533378]|Dyskeratosis congenita, autosomal dominant 2 [RCV003459547] |
Chr5:1280228 [GRCh38]
Chr5:1280343 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422371]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533379]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472038]|Interstitial lung disease 2 [RCV002485456]|not provided [RCV003153788] |
Chr5:1279467 [GRCh38]
Chr5:1279582 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1829G>T (p.Arg610Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533380] |
Chr5:1280279 [GRCh38]
Chr5:1280394 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2945G>T (p.Cys982Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533381] |
Chr5:1260499 [GRCh38]
Chr5:1260614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533382]|not provided [RCV003228970] |
Chr5:1260560 [GRCh38]
Chr5:1260675 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_198253.3(TERT):c.2689G>A (p.Val897Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533383]|TERT-related condition [RCV003392493] |
Chr5:1264558 [GRCh38]
Chr5:1264673 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2775C>A (p.His925Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530511]|Pulmonary fibrosis [RCV002509491] |
Chr5:1264472 [GRCh38]
Chr5:1264587 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1604G>A (p.Arg535His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530512]|Dyskeratosis congenita, autosomal dominant 2 [RCV003459548]|not specified [RCV001195527] |
Chr5:1282594 [GRCh38]
Chr5:1282709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1594G>T (p.Ala532Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003767875] |
Chr5:1282604 [GRCh38]
Chr5:1282719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.941C>T (p.Pro314Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530513]|not provided [RCV003329319] |
Chr5:1293945 [GRCh38]
Chr5:1294060 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.863C>T (p.Ala288Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369729]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533384]|Interstitial lung disease 2 [RCV002477438]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001293960]|TERT-related condition [RCV003403495]|not provided [RCV002307574] |
Chr5:1294023 [GRCh38]
Chr5:1294138 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.781A>T (p.Arg261Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406437]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533385] |
Chr5:1294105 [GRCh38]
Chr5:1294220 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533386]|TERT-related condition [RCV003980261] |
Chr5:1268529 [GRCh38]
Chr5:1268644 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.2643A>G (p.Lys881=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424495]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533387] |
Chr5:1266475 [GRCh38]
Chr5:1266590 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533388]|not specified [RCV001816612] |
Chr5:1294237..1294238 [GRCh38]
Chr5:1294352..1294353 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.569C>T (p.Ala190Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001334733]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533389]|not provided [RCV003325507] |
Chr5:1294317 [GRCh38]
Chr5:1294432 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.751G>A (p.Val251Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103822]|not provided [RCV003328616] |
Chr5:1294135 [GRCh38]
Chr5:1294250 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2021G>A (p.Gly674Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422372]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533390] |
Chr5:1279400 [GRCh38]
Chr5:1279515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1193G>A (p.Gly398Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002334174]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533391] |
Chr5:1293693 [GRCh38]
Chr5:1293808 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.917G>A (p.Gly306Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533392] |
Chr5:1293969 [GRCh38]
Chr5:1294084 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325292]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533393]|TERT-related condition [RCV003424235] |
Chr5:1255355 [GRCh38]
Chr5:1255470 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3336G>C (p.Leu1112=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533394] |
Chr5:1253791 [GRCh38]
Chr5:1253906 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2220C>T (p.Cys740=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424496]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533395] |
Chr5:1278707 [GRCh38]
Chr5:1278822 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-3235G>T |
single nucleotide variant |
Interstitial lung disease 2 [RCV001513602] |
Chr5:1285859 [GRCh38]
Chr5:1285974 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1983G>A (p.Leu661=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256450]|Dyskeratosis congenita [RCV002422373]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530515]|TERT-related condition [RCV003965379] |
Chr5:1279438 [GRCh38]
Chr5:1279553 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1564A>C (p.Arg522=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397283]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533396] |
Chr5:1293322 [GRCh38]
Chr5:1293437 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2740C>T (p.Leu914=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533397] |
Chr5:1264507 [GRCh38]
Chr5:1264622 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.481C>T (p.Leu161=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002331233]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533398]|TERT-related condition [RCV003905755] |
Chr5:1294405 [GRCh38]
Chr5:1294520 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2418C>T (p.Phe806=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002458120]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533399] |
Chr5:1271169 [GRCh38]
Chr5:1271284 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2145C>A (p.Gly715=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533400] |
Chr5:1278782 [GRCh38]
Chr5:1278897 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3183C>T (p.Ala1061=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325293]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533401] |
Chr5:1254480 [GRCh38]
Chr5:1254595 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2701C>A (p.Arg901=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424497]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533402] |
Chr5:1264546 [GRCh38]
Chr5:1264661 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.192G>A (p.Pro64=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406438]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533403] |
Chr5:1294798 [GRCh38]
Chr5:1294913 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2736G>A (p.Glu912=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003162964]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103823] |
Chr5:1264511 [GRCh38]
Chr5:1264626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.391C>T (p.Leu131=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369730]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533404] |
Chr5:1294495 [GRCh38]
Chr5:1294610 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2523C>G (p.Leu841=) |
single nucleotide variant |
Aplastic anemia [RCV001156212]|Dyskeratosis congenita [RCV002424498]|Dyskeratosis congenita, autosomal dominant 2 [RCV001156211]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533405]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001156210] |
Chr5:1268579 [GRCh38]
Chr5:1268694 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.2(TERT):c.-245T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530516]|not provided [RCV001653969]|not specified [RCV001816613] |
Chr5:1295234 [GRCh38]
Chr5:1295349 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3201C>T (p.Ser1067=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325294]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530517] |
Chr5:1254462 [GRCh38]
Chr5:1254577 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.189G>A (p.Arg63=) |
single nucleotide variant |
Aplastic anemia [RCV001153061]|Dyskeratosis congenita [RCV002406439]|Dyskeratosis congenita, autosomal dominant 2 [RCV001153059]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530518]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001153060] |
Chr5:1294801 [GRCh38]
Chr5:1294916 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2205C>A (p.Pro735=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424499]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530519]|not specified [RCV001816614] |
Chr5:1278722 [GRCh38]
Chr5:1278837 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.513C>T (p.Cys171=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530520] |
Chr5:1294373 [GRCh38]
Chr5:1294488 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1458C>T (p.Arg486=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388123]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533406] |
Chr5:1293428 [GRCh38]
Chr5:1293543 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1917C>T (p.Val639=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533407]|TERT-related condition [RCV003983157]|not specified [RCV001816615] |
Chr5:1280191 [GRCh38]
Chr5:1280306 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+269T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533408]|not provided [RCV001613425] |
Chr5:1266195 [GRCh38]
Chr5:1266310 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1769+8A>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533409] |
Chr5:1282421 [GRCh38]
Chr5:1282536 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1465A>C (p.Arg489=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388124]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103824] |
Chr5:1293421 [GRCh38]
Chr5:1293536 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2565G>A (p.Ala855=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424500]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533410]|not provided [RCV003437372] |
Chr5:1268537 [GRCh38]
Chr5:1268652 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1563C>T (p.Arg521=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397284]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530521] |
Chr5:1293323 [GRCh38]
Chr5:1293438 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.897G>T (p.Val299=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533411] |
Chr5:1293989 [GRCh38]
Chr5:1294104 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.399G>C (p.Gly133=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369731]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533412] |
Chr5:1294487 [GRCh38]
Chr5:1294602 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1656C>T (p.Tyr552=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258993]|Dyskeratosis congenita [RCV002397285]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533413] |
Chr5:1282542 [GRCh38]
Chr5:1282657 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2313G>A (p.Pro771=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449068]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533414]|not specified [RCV001816616] |
Chr5:1272254 [GRCh38]
Chr5:1272369 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2733C>T (p.Asp911=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533415] |
Chr5:1264514 [GRCh38]
Chr5:1264629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-4G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530522] |
Chr5:1253835 [GRCh38]
Chr5:1253950 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2139G>A (p.Val713=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257903]|Dyskeratosis congenita [RCV002424501]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530523]|TERT-related condition [RCV003945644]|not provided [RCV002248843]|not specified [RCV001816617] |
Chr5:1278788 [GRCh38]
Chr5:1278903 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2307C>G (p.Leu769=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424502]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530524] |
Chr5:1272260 [GRCh38]
Chr5:1272375 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1119A>C (p.Pro373=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530525] |
Chr5:1293767 [GRCh38]
Chr5:1293882 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3240C>T (p.Leu1080=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325295]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533416] |
Chr5:1254423 [GRCh38]
Chr5:1254538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.519G>A (p.Pro173=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002334175]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533417] |
Chr5:1294367 [GRCh38]
Chr5:1294482 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2013G>A (p.Arg671=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422374]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533418] |
Chr5:1279408 [GRCh38]
Chr5:1279523 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.351C>T (p.Thr117=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002458121]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533419] |
Chr5:1294535 [GRCh38]
Chr5:1294650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.855G>A (p.Leu285=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449069]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533420] |
Chr5:1294031 [GRCh38]
Chr5:1294146 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1950+245C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533421]|not provided [RCV001530593] |
Chr5:1279913 [GRCh38]
Chr5:1280028 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2938C>T (p.Leu980=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533422] |
Chr5:1260506 [GRCh38]
Chr5:1260621 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2019C>T (p.Pro673=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256451]|Dyskeratosis congenita [RCV002422375]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533423]|not specified [RCV001816618] |
Chr5:1279402 [GRCh38]
Chr5:1279517 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2010G>A (p.Ala670=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422376]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533424] |
Chr5:1279411 [GRCh38]
Chr5:1279526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.444G>C (p.Val148=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002331234]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533425] |
Chr5:1294442 [GRCh38]
Chr5:1294557 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2577G>C (p.Arg859=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424503]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533426] |
Chr5:1268525 [GRCh38]
Chr5:1268640 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1917C>A (p.Val639=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406440]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533427] |
Chr5:1280191 [GRCh38]
Chr5:1280306 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2151C>T (p.Tyr717=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424504]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533428] |
Chr5:1278776 [GRCh38]
Chr5:1278891 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2640G>A (p.Ala880=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424505]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530526] |
Chr5:1266478 [GRCh38]
Chr5:1266593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3006C>T (p.Tyr1002=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440342]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530527] |
Chr5:1258624 [GRCh38]
Chr5:1258739 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002530528] |
Chr5:1272286 [GRCh38]
Chr5:1272401 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.936G>A (p.Arg312=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449070]|Dyskeratosis congenita, autosomal dominant 2 [RCV002530529] |
Chr5:1293950 [GRCh38]
Chr5:1294065 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.867C>T (p.Leu289=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449071]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533429]|TERT-related condition [RCV003980262] |
Chr5:1294019 [GRCh38]
Chr5:1294134 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1437C>T (p.Gly479=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388125]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533430] |
Chr5:1293449 [GRCh38]
Chr5:1293564 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.699G>A (p.Pro233=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369732]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533431] |
Chr5:1294187 [GRCh38]
Chr5:1294302 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533432] |
Chr5:1279282 [GRCh38]
Chr5:1279397 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1533G>A (p.Lys511=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397286]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531928] |
Chr5:1293353 [GRCh38]
Chr5:1293468 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531929] |
Chr5:1271209 [GRCh38]
Chr5:1271324 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1560G>A (p.Leu520=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397287]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531930] |
Chr5:1293326 [GRCh38]
Chr5:1293441 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.393G>A (p.Leu131=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369733]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531931] |
Chr5:1294493 [GRCh38]
Chr5:1294608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2823G>A (p.Glu941=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440343]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531932] |
Chr5:1264424 [GRCh38]
Chr5:1264539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.9:g.(?_1253837)_(1295110_?)dup |
duplication |
Interstitial lung disease 2 [RCV000648989] |
Chr5:1253722..1294995 [GRCh38]
Chr5:1253837..1295110 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1511C>G (p.Ser504Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388200]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544755] |
Chr5:1293375 [GRCh38]
Chr5:1293490 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3176A>G (p.Lys1059Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534351] |
Chr5:1254487 [GRCh38]
Chr5:1254602 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1210C>G (p.Pro404Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533537]|Dyskeratosis congenita, autosomal dominant 2 [RCV003460956] |
Chr5:1293676 [GRCh38]
Chr5:1293791 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2432G>A (p.Arg811His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533539]|not provided [RCV003222108] |
Chr5:1271155 [GRCh38]
Chr5:1271270 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1843G>A (p.Ala615Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534308]|not provided [RCV000659010]|not specified [RCV001816660] |
Chr5:1280265 [GRCh38]
Chr5:1280380 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534271]|not provided [RCV000658136] |
Chr5:1253765 [GRCh38]
Chr5:1253880 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.411G>T (p.Trp137Cys) |
single nucleotide variant |
not provided [RCV000658364] |
Chr5:1294475 [GRCh38]
Chr5:1294590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.545C>T (p.Thr182Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002343502]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533525] |
Chr5:1294341 [GRCh38]
Chr5:1294456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) |
single nucleotide variant |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000677348] |
Chr5:1253728 [GRCh38]
Chr5:1253843 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 |
copy number loss |
not provided [RCV000682510] |
Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 |
copy number loss |
not provided [RCV000682511] |
Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 |
copy number loss |
not provided [RCV000682512] |
Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 |
copy number loss |
not provided [RCV000682513] |
Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 |
copy number loss |
not provided [RCV000682514] |
Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.2187C>G (p.Ile729Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531434] |
Chr5:1278740 [GRCh38]
Chr5:1278855 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 |
copy number loss |
not provided [RCV000682515] |
Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.1906A>G (p.Met636Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406617]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533580] |
Chr5:1280202 [GRCh38]
Chr5:1280317 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 |
copy number gain |
not provided [RCV000682516] |
Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV000677345]|Interstitial lung disease 2 [RCV000799933]|not provided [RCV001508165] |
Chr5:1279370 [GRCh38]
Chr5:1279485 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV000677346]|Dyskeratosis congenita, autosomal dominant 2 [RCV002525003] |
Chr5:1272247 [GRCh38]
Chr5:1272362 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2287-5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002525004]|Dyskeratosis congenita, autosomal dominant 2 [RCV003476211]|Interstitial lung disease 2 [RCV000765795]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV000677347]|TERT-related condition [RCV003409729]|not provided [RCV001755759]|not specified [RCV001821447] |
Chr5:1272285 [GRCh38]
Chr5:1272400 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 |
copy number loss |
not provided [RCV000682509] |
Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533651] |
Chr5:1279409 [GRCh38]
Chr5:1279524 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.83T>G (p.Val28Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544804]|Pulmonary fibrosis [RCV002509512] |
Chr5:1294907 [GRCh38]
Chr5:1295022 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.577C>A (p.Pro193Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534408] |
Chr5:1294309 [GRCh38]
Chr5:1294424 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2734G>A (p.Glu912Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533671] |
Chr5:1264513 [GRCh38]
Chr5:1264628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.736C>T (p.Pro246Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533559] |
Chr5:1294150 [GRCh38]
Chr5:1294265 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.956C>T (p.Thr319Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369825]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547095] |
Chr5:1293930 [GRCh38]
Chr5:1294045 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.553C>T (p.Arg185Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002343436]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544769]|Dyskeratosis congenita, autosomal dominant 2 [RCV003388593] |
Chr5:1294333 [GRCh38]
Chr5:1294448 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2049G>A (p.Leu683=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544857] |
Chr5:1279372 [GRCh38]
Chr5:1279487 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1610G>A (p.Arg537His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002532887]|Hereditary cancer-predisposing syndrome [RCV000708947] |
Chr5:1282588 [GRCh38]
Chr5:1282703 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2961G>A (p.Leu987=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440515]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533639] |
Chr5:1260483 [GRCh38]
Chr5:1260598 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.878G>T (p.Arg293Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531496]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472217] |
Chr5:1294008 [GRCh38]
Chr5:1294123 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1025G>A (p.Arg342Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386174]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547117] |
Chr5:1293861 [GRCh38]
Chr5:1293976 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_198253.3(TERT):c.670C>T (p.Arg224Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002360821]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536391] |
Chr5:1294216 [GRCh38]
Chr5:1294331 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.180G>A (p.Trp60Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544806] |
Chr5:1294810 [GRCh38]
Chr5:1294925 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2882A>G (p.Asn961Ser) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000702578] |
Chr5:1260562 [GRCh38]
Chr5:1260677 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.718C>A (p.Arg240Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534407] |
Chr5:1294168 [GRCh38]
Chr5:1294283 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1594G>A (p.Ala532Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534439] |
Chr5:1282604 [GRCh38]
Chr5:1282719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.536G>T (p.Gly179Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536367] |
Chr5:1294350 [GRCh38]
Chr5:1294465 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2236G>A (p.Val746Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544831] |
Chr5:1278691 [GRCh38]
Chr5:1278806 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2541C>T (p.Gly847=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424715]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533738] |
Chr5:1268561 [GRCh38]
Chr5:1268676 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2354C>G (p.Pro785Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534443] |
Chr5:1272213 [GRCh38]
Chr5:1272328 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1304T>A (p.Val435Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386156]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531428]|Interstitial lung disease 2 [RCV002485583]|not provided [RCV002291685]|not specified [RCV001816693] |
Chr5:1293582 [GRCh38]
Chr5:1293697 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544840] |
Chr5:1293601 [GRCh38]
Chr5:1293716 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.565C>G (p.His189Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544841] |
Chr5:1294321 [GRCh38]
Chr5:1294436 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1770-9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544842] |
Chr5:1280347 [GRCh38]
Chr5:1280462 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533689]|Telomere syndrome [RCV003325408]|not specified [RCV001816730] |
Chr5:1266527 [GRCh38]
Chr5:1266642 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.1196A>G (p.Asn399Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544740] |
Chr5:1293690 [GRCh38]
Chr5:1293805 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.609G>C (p.Trp203Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534381] |
Chr5:1294277 [GRCh38]
Chr5:1294392 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.144C>T (p.Arg48=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531446] |
Chr5:1294846 [GRCh38]
Chr5:1294961 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1295161_?)dup |
duplication |
Interstitial lung disease 2 [RCV000708440] |
Chr5:1253718..1295046 [GRCh38]
Chr5:1253833..1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.194C>T (p.Pro65Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533748] |
Chr5:1294796 [GRCh38]
Chr5:1294911 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2411G>T (p.Gly804Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534362]|not provided [RCV003128689] |
Chr5:1271176 [GRCh38]
Chr5:1271291 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2971-9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103826] |
Chr5:1258668 [GRCh38]
Chr5:1258783 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1590G>A (p.Pro530=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544851] |
Chr5:1282608 [GRCh38]
Chr5:1282723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1244T>G (p.Leu415Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531494] |
Chr5:1293642 [GRCh38]
Chr5:1293757 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2542G>A (p.Asp848Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103831]|not provided [RCV001772000] |
Chr5:1268560 [GRCh38]
Chr5:1268675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1561C>T (p.Arg521Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397471]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536378] |
Chr5:1293325 [GRCh38]
Chr5:1293440 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2583-3T>C |
single nucleotide variant |
Interstitial lung disease 2 [RCV000706850] |
Chr5:1266538 [GRCh38]
Chr5:1266653 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2263G>A (p.Val755Ile) |
single nucleotide variant |
Aplastic anemia [RCV001151511]|Dyskeratosis congenita, autosomal dominant 2 [RCV001151513]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547120]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151512]|not specified [RCV001816702] |
Chr5:1278664 [GRCh38]
Chr5:1278779 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_198253.3(TERT):c.322C>A (p.Arg108Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002532281] |
Chr5:1294564 [GRCh38]
Chr5:1294679 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.391C>G (p.Leu131Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533713] |
Chr5:1294495 [GRCh38]
Chr5:1294610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.895G>T (p.Val299Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369889]|Dyskeratosis congenita, autosomal dominant 2 [RCV002532314] |
Chr5:1293991 [GRCh38]
Chr5:1294106 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.702G>C (p.Leu234Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV001775147]|Dyskeratosis congenita [RCV002360768]|Dyskeratosis congenita, autosomal dominant 2 [RCV002532334] |
Chr5:1294184 [GRCh38]
Chr5:1294299 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.859G>A (p.Gly287Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103830] |
Chr5:1294027 [GRCh38]
Chr5:1294142 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534326] |
Chr5:1294053 [GRCh38]
Chr5:1294168 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1615G>A (p.Glu539Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397383]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544833]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472196]|not provided [RCV001775960] |
Chr5:1282583 [GRCh38]
Chr5:1282698 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2616G>C (p.Leu872Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531480] |
Chr5:1266502 [GRCh38]
Chr5:1266617 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+5G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002225114]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533436] |
Chr5:1279286 [GRCh38]
Chr5:1279401 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1909G>A (p.Asp637Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533451] |
Chr5:1280199 [GRCh38]
Chr5:1280314 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.554G>T (p.Arg185Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002343519]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534379] |
Chr5:1294332 [GRCh38]
Chr5:1294447 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1730G>A (p.Arg577Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103827]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472204] |
Chr5:1282468 [GRCh38]
Chr5:1282583 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256472]|Dyskeratosis congenita, autosomal dominant 2 [RCV002531489] |
Chr5:1255328 [GRCh38]
Chr5:1255443 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NC_000005.10:g.(?_1280152)_(1280344_?)del |
deletion |
Interstitial lung disease 2 [RCV000708222] |
Chr5:1280152..1280344 [GRCh38]
Chr5:1280267..1280459 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1105A>G (p.Arg369Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424584]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544718] |
Chr5:1293781 [GRCh38]
Chr5:1293896 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.468C>T (p.Cys156=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002332431]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547169]|TERT-related condition [RCV003892541] |
Chr5:1294418 [GRCh38]
Chr5:1294533 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2980C>T (p.Leu994Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533686] |
Chr5:1258650 [GRCh38]
Chr5:1258765 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.816G>A (p.Val272=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422606]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534450] |
Chr5:1294070 [GRCh38]
Chr5:1294185 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1411C>T (p.Arg471Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002533470]|Dyskeratosis congenita, autosomal dominant 2 [RCV003465599] |
Chr5:1293475 [GRCh38]
Chr5:1293590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1450G>C (p.Glu484Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388278]|Dyskeratosis congenita, autosomal dominant 2 [RCV002533479] |
Chr5:1293436 [GRCh38]
Chr5:1293551 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3144A>G (p.Lys1048=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002531447] |
Chr5:1255300 [GRCh38]
Chr5:1255415 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2303A>T (p.Asp768Val) |
single nucleotide variant |
not provided [RCV001579739] |
Chr5:1272264 [GRCh38]
Chr5:1272379 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1272405_?)dup |
duplication |
Interstitial lung disease 2 [RCV000817282] |
Chr5:1253718..1272290 [GRCh38]
Chr5:1253833..1272405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 |
copy number loss |
not provided [RCV000744320] |
Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 |
copy number gain |
not provided [RCV000744321] |
Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 |
copy number loss |
not provided [RCV000744322] |
Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.3295+232G>A |
single nucleotide variant |
not provided [RCV001644342] |
Chr5:1254136 [GRCh38]
Chr5:1254251 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1574-16G>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002405220]|Dyskeratosis congenita, autosomal dominant 2 [RCV002568170]|not provided [RCV001529791] |
Chr5:1282640 [GRCh38]
Chr5:1282755 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2688C>T (p.Cys896=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427097]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536232] |
Chr5:1264559 [GRCh38]
Chr5:1264674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2796C>A (p.Gly932=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001468790] |
Chr5:1264451 [GRCh38]
Chr5:1264566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1121G>A (p.Gly374Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550336] |
Chr5:1293765 [GRCh38]
Chr5:1293880 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.702G>A (p.Leu234=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255587]|Dyskeratosis congenita [RCV002363410]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768880] |
Chr5:1294184 [GRCh38]
Chr5:1294299 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-336G>A |
single nucleotide variant |
not provided [RCV001533813] |
Chr5:1260936 [GRCh38]
Chr5:1261051 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-323G>A |
single nucleotide variant |
not provided [RCV001534964] |
Chr5:1254828 [GRCh38]
Chr5:1254943 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1950+7G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536224] |
Chr5:1280151 [GRCh38]
Chr5:1280266 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-11_1770-8del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103871] |
Chr5:1280346..1280349 [GRCh38]
Chr5:1280461..1280464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1566G>A (p.Arg522=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002399929]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539053] |
Chr5:1293320 [GRCh38]
Chr5:1293435 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1110C>G (p.Pro370=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434254]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544511]|Interstitial lung disease 2 [RCV002488016] |
Chr5:1293776 [GRCh38]
Chr5:1293891 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.975C>T (p.Tyr325=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002381979]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539959]|TERT-related condition [RCV003892151] |
Chr5:1293911 [GRCh38]
Chr5:1294026 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.684C>T (p.Ala228=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001489326] |
Chr5:1294202 [GRCh38]
Chr5:1294317 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 |
copy number loss |
not provided [RCV000762763] |
Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2540dup (p.Asp848fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553093] |
Chr5:1268561..1268562 [GRCh38]
Chr5:1268676..1268677 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2287-241C>T |
single nucleotide variant |
not provided [RCV001572550] |
Chr5:1272521 [GRCh38]
Chr5:1272636 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1950+251A>G |
single nucleotide variant |
not provided [RCV001691487] |
Chr5:1279907 [GRCh38]
Chr5:1280022 [GRCh37]
Chr5:5p15.33 |
benign |
| NC_000005.10:g.(?_218349)_(1297373_?)dup |
duplication |
Interstitial lung disease 2 [RCV001031280] |
Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2970+258A>G |
single nucleotide variant |
not provided [RCV001581389] |
Chr5:1260216 [GRCh38]
Chr5:1260331 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2410G>A (p.Gly804Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554503] |
Chr5:1271177 [GRCh38]
Chr5:1271292 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1743G>A (p.Trp581Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103904] |
Chr5:1282455 [GRCh38]
Chr5:1282570 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2839T>C (p.Ser947Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV000786862] |
Chr5:1264408 [GRCh38]
Chr5:1264523 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV000786863]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535743] |
Chr5:1253781 [GRCh38]
Chr5:1253896 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2971-200T>C |
single nucleotide variant |
not provided [RCV001548067] |
Chr5:1258859 [GRCh38]
Chr5:1258974 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.592G>A (p.Gly198Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554516] |
Chr5:1294294 [GRCh38]
Chr5:1294409 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001045523] |
Chr5:1293452 [GRCh38]
Chr5:1293567 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3158-7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002540972] |
Chr5:1254512 [GRCh38]
Chr5:1254627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1888C>T (p.Leu630=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542216] |
Chr5:1280220 [GRCh38]
Chr5:1280335 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2646C>A (p.Thr882=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454168]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544625] |
Chr5:1266472 [GRCh38]
Chr5:1266587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2604T>C (p.Asp868=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427307]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542228] |
Chr5:1266514 [GRCh38]
Chr5:1266629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3132C>T (p.Tyr1044=) |
single nucleotide variant |
not provided [RCV000923114] |
Chr5:1255312 [GRCh38]
Chr5:1255427 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-8C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541552] |
Chr5:1279478 [GRCh38]
Chr5:1279593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1887G>A (p.Gly629=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409194]|Dyskeratosis congenita, autosomal dominant 2 [RCV002541553] |
Chr5:1280221 [GRCh38]
Chr5:1280336 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-10G>C |
single nucleotide variant |
Interstitial lung disease 2 [RCV001418808] |
Chr5:1258669 [GRCh38]
Chr5:1258784 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2511C>T (p.Leu837=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427165]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539036] |
Chr5:1268591 [GRCh38]
Chr5:1268706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1593C>T (p.Ala531=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002399882]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538944]|TERT-related condition [RCV003918366] |
Chr5:1282605 [GRCh38]
Chr5:1282720 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3321C>T (p.Leu1107=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546002] |
Chr5:1253806 [GRCh38]
Chr5:1253921 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2376C>T (p.Ile792=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454003]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539066]|TERT-related condition [RCV003895312]|not specified [RCV001816992] |
Chr5:1272191 [GRCh38]
Chr5:1272306 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1938C>T (p.Arg646=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548452] |
Chr5:1280170 [GRCh38]
Chr5:1280285 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-9G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544513] |
Chr5:1253840 [GRCh38]
Chr5:1253955 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1731G>A (p.Arg577=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400038]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542207] |
Chr5:1282467 [GRCh38]
Chr5:1282582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.984C>G (p.Thr328=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002381930]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768650] |
Chr5:1293902 [GRCh38]
Chr5:1294017 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.999C>T (p.Tyr333=) |
single nucleotide variant |
not provided [RCV000892436] |
Chr5:1293887 [GRCh38]
Chr5:1294002 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3012C>A (p.Ile1004=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542208] |
Chr5:1258618 [GRCh38]
Chr5:1258733 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-8C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768784] |
Chr5:1294674 [GRCh38]
Chr5:1294789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.426C>T (p.Arg142=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169169]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539080] |
Chr5:1294460 [GRCh38]
Chr5:1294575 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3042A>T (p.Ala1014=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001450735]|not provided [RCV003329351] |
Chr5:1255402 [GRCh38]
Chr5:1255517 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.174G>T (p.Val58=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400060]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544520] |
Chr5:1294816 [GRCh38]
Chr5:1294931 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.462A>G (p.Ala154=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002327208]|Interstitial lung disease 2 [RCV001430166] |
Chr5:1294424 [GRCh38]
Chr5:1294539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1485C>T (p.Ile495=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169138]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536755] |
Chr5:1293401 [GRCh38]
Chr5:1293516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002540025]|not specified [RCV001817041] |
Chr5:1253836 [GRCh38]
Chr5:1253951 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1719C>T (p.Leu573=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400096]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548237] |
Chr5:1282479 [GRCh38]
Chr5:1282594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1293C>T (p.Pro431=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382165]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768904] |
Chr5:1293593 [GRCh38]
Chr5:1293708 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2154C>T (p.Asp718=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427210]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768707] |
Chr5:1278773 [GRCh38]
Chr5:1278888 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2382+9A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541549] |
Chr5:1272176 [GRCh38]
Chr5:1272291 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2388C>T (p.Ser796=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768668] |
Chr5:1271199 [GRCh38]
Chr5:1271314 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3126C>T (p.Leu1042=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002319974]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536283]|TERT-related condition [RCV003892812]|not provided [RCV002469309] |
Chr5:1255318 [GRCh38]
Chr5:1255433 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1050G>A (p.Leu350=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169486]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547304] |
Chr5:1293836 [GRCh38]
Chr5:1293951 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.921C>T (p.Pro307=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372564]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540993] |
Chr5:1293965 [GRCh38]
Chr5:1294080 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1176G>C (p.Leu392=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002332804]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536787] |
Chr5:1293710 [GRCh38]
Chr5:1293825 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-9C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002258012]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538978] |
Chr5:1268642 [GRCh38]
Chr5:1268757 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1242G>A (p.Pro414=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382172]|Interstitial lung disease 2 [RCV001502280] |
Chr5:1293644 [GRCh38]
Chr5:1293759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) |
single nucleotide variant |
Esophageal atresia [RCV000984762] |
Chr5:1293701 [GRCh38]
Chr5:1293816 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.21C>T (p.Cys7=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768653] |
Chr5:1294969 [GRCh38]
Chr5:1295084 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.750C>G (p.Pro250=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390995]|Interstitial lung disease 2 [RCV001465316] |
Chr5:1294136 [GRCh38]
Chr5:1294251 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2075C>A (p.Thr692Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553247] |
Chr5:1279346 [GRCh38]
Chr5:1279461 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1949G>A (p.Arg650Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551474] |
Chr5:1280159 [GRCh38]
Chr5:1280274 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.143G>A (p.Arg48His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554407] |
Chr5:1294847 [GRCh38]
Chr5:1294962 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.229C>G (p.Leu77Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553903] |
Chr5:1294657 [GRCh38]
Chr5:1294772 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 |
copy number loss |
not provided [RCV001005644] |
Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_198253.3(TERT):c.1712del (p.Asn571fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553300] |
Chr5:1282486 [GRCh38]
Chr5:1282601 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2197A>T (p.Ile733Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553791] |
Chr5:1278730 [GRCh38]
Chr5:1278845 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.16C>G (p.Arg6Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552518] |
Chr5:1294974 [GRCh38]
Chr5:1295089 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.120G>C (p.Gln40His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553806] |
Chr5:1294870 [GRCh38]
Chr5:1294985 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_1258588)_(1295046_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103895] |
Chr5:1258703..1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.345C>G (p.Phe115Leu) |
single nucleotide variant |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001007599] |
Chr5:1294541 [GRCh38]
Chr5:1294656 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2213C>T (p.Thr738Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002429678]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553853]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473666]|not provided [RCV003222210] |
Chr5:1278714 [GRCh38]
Chr5:1278829 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3358A>C (p.Asn1120His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552096]|TERT-related condition [RCV003413818] |
Chr5:1253769 [GRCh38]
Chr5:1253884 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1315G>A (p.Glu439Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553059] |
Chr5:1293571 [GRCh38]
Chr5:1293686 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.751G>T (p.Val251Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391126]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551515] |
Chr5:1294135 [GRCh38]
Chr5:1294250 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.220-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555910] |
Chr5:1294669 [GRCh38]
Chr5:1294784 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574G>T (p.Gly525Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400212]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552099] |
Chr5:1282624 [GRCh38]
Chr5:1282739 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1250C>G (p.Ala417Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551401] |
Chr5:1293636 [GRCh38]
Chr5:1293751 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_1253708)_(1258679_?)dup |
duplication |
Interstitial lung disease 2 [RCV001032422] |
Chr5:1253823..1258794 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2354C>T (p.Pro785Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553218]|not provided [RCV003222204] |
Chr5:1272213 [GRCh38]
Chr5:1272328 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1090A>G (p.Ile364Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552610] |
Chr5:1293796 [GRCh38]
Chr5:1293911 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2446C>T (p.His816Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554423] |
Chr5:1271141 [GRCh38]
Chr5:1271256 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.618C>A (p.Ser206Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103905] |
Chr5:1294268 [GRCh38]
Chr5:1294383 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.20G>A (p.Cys7Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002510764] |
Chr5:1294970 [GRCh38]
Chr5:1295085 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.746C>T (p.Thr249Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551412] |
Chr5:1294140 [GRCh38]
Chr5:1294255 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553772] |
Chr5:1293715..1293730 [GRCh38]
Chr5:1293830..1293845 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1603C>T (p.Arg535Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553345]|Pulmonary fibrosis [RCV002509601] |
Chr5:1282595 [GRCh38]
Chr5:1282710 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2270A>G (p.Lys757Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553834]|not provided [RCV003141995] |
Chr5:1278657 [GRCh38]
Chr5:1278772 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.908A>T (p.His303Leu) |
single nucleotide variant |
Aplastic anemia [RCV001151705]|Dyskeratosis congenita, autosomal dominant 2 [RCV001157164]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553241]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151706] |
Chr5:1293978 [GRCh38]
Chr5:1294093 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1258784_?)dup |
duplication |
Interstitial lung disease 2 [RCV000824663] |
Chr5:1253718..1258669 [GRCh38]
Chr5:1253833..1258784 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1793T>C (p.Leu598Pro) |
single nucleotide variant |
not specified [RCV000826053] |
Chr5:1280315 [GRCh38]
Chr5:1280430 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1779G>T (p.Leu593Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536933] |
Chr5:1280329 [GRCh38]
Chr5:1280444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535868]|Pulmonary fibrosis [RCV002509537]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002332584] |
Chr5:1293882..1293884 [GRCh38]
Chr5:1293997..1293999 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1269_1273del (p.Gly424fs) |
deletion |
TERT-Related Disorders [RCV000778749] |
Chr5:1293613..1293617 [GRCh38]
Chr5:1293728..1293732 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2085G>A (p.Leu695=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416217]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545988] |
Chr5:1279336 [GRCh38]
Chr5:1279451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2590C>T (p.Leu864=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255594]|Dyskeratosis congenita [RCV002427374]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548229] |
Chr5:1266528 [GRCh38]
Chr5:1266643 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-4C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549554] |
Chr5:1279474 [GRCh38]
Chr5:1279589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.27C>T (p.Ala9=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434156]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539225]|not specified [RCV002268345] |
Chr5:1294963 [GRCh38]
Chr5:1295078 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2142G>A (p.Thr714=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427401]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548321] |
Chr5:1278785 [GRCh38]
Chr5:1278900 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.366C>T (p.Tyr122=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454072]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540200] |
Chr5:1294520 [GRCh38]
Chr5:1294635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2835C>T (p.Asp945=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434202]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540755] |
Chr5:1264412 [GRCh38]
Chr5:1264527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2451C>T (p.Ala817=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001438080] |
Chr5:1271136 [GRCh38]
Chr5:1271251 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2187C>T (p.Ile729=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427216]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539221]|TERT-related condition [RCV003895373]|not specified [RCV001817036] |
Chr5:1278740 [GRCh38]
Chr5:1278855 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.90C>G (p.Arg30=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169423]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544562] |
Chr5:1294900 [GRCh38]
Chr5:1295015 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2235C>T (p.Ala745=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427132]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536290]|TERT-related condition [RCV003918379] |
Chr5:1278692 [GRCh38]
Chr5:1278807 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2787C>G (p.Pro929=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548439] |
Chr5:1264460 [GRCh38]
Chr5:1264575 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1818C>T (p.Val606=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768888] |
Chr5:1280290 [GRCh38]
Chr5:1280405 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2370C>T (p.Val790=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002453937]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538903]|TERT-related condition [RCV003892779]|not specified [RCV001816929] |
Chr5:1272197 [GRCh38]
Chr5:1272312 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.663G>A (p.Ala221=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002363209]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103848] |
Chr5:1294223 [GRCh38]
Chr5:1294338 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.583A>C (p.Arg195=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002354713]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539284] |
Chr5:1294303 [GRCh38]
Chr5:1294418 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.183C>T (p.Asp61=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409188]|Dyskeratosis congenita, autosomal dominant 2 [RCV002541029] |
Chr5:1294807 [GRCh38]
Chr5:1294922 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1642C>T (p.Leu548=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548425] |
Chr5:1282556 [GRCh38]
Chr5:1282671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2163C>G (p.Pro721=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427100]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536240] |
Chr5:1278764 [GRCh38]
Chr5:1278879 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2496G>A (p.Pro832=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427198]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539977]|TERT-related condition [RCV003965764] |
Chr5:1268606 [GRCh38]
Chr5:1268721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.603G>A (p.Arg201=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352514]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538926] |
Chr5:1294283 [GRCh38]
Chr5:1294398 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) |
copy number loss |
5p partial monosomy syndrome [RCV000767709] |
Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_198253.3(TERT):c.2109G>A (p.Pro703=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416043]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539067] |
Chr5:1279312 [GRCh38]
Chr5:1279427 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1298G>A (p.Gly433Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002381972]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539068] |
Chr5:1293588 [GRCh38]
Chr5:1293703 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.312G>C (p.Leu104=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768890] |
Chr5:1294574 [GRCh38]
Chr5:1294689 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3180C>T (p.Gly1060=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320023]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539109] |
Chr5:1254483 [GRCh38]
Chr5:1254598 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2061C>T (p.His687=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416048]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539077]|not provided [RCV003438520] |
Chr5:1279360 [GRCh38]
Chr5:1279475 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256570]|Dyskeratosis congenita [RCV002442846]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539055]|TERT-related condition [RCV003895308]|not specified [RCV001816988] |
Chr5:1254396 [GRCh38]
Chr5:1254511 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2698T>C (p.Leu900=) |
single nucleotide variant |
not provided [RCV000982349] |
Chr5:1264549 [GRCh38]
Chr5:1264664 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.825T>G (p.Pro275=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427228]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540026] |
Chr5:1294061 [GRCh38]
Chr5:1294176 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.699G>T (p.Pro233=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002363458]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545984] |
Chr5:1294187 [GRCh38]
Chr5:1294302 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3321C>G (p.Leu1107=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454103]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544979] |
Chr5:1253806 [GRCh38]
Chr5:1253921 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2529C>T (p.Ser843=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427218]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540009] |
Chr5:1268573 [GRCh38]
Chr5:1268688 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3027G>A (p.Ala1009=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434093]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536744] |
Chr5:1258603 [GRCh38]
Chr5:1258718 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2148G>A (p.Ala716=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427112]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538939] |
Chr5:1278779 [GRCh38]
Chr5:1278894 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+10C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539091] |
Chr5:1294761 [GRCh38]
Chr5:1294876 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2982C>T (p.Leu994=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434137]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104005]|TERT-related condition [RCV003895344] |
Chr5:1258648 [GRCh38]
Chr5:1258763 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2850C>G (p.Ala950=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434062]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538910]|not provided [RCV003736920] |
Chr5:1260594 [GRCh38]
Chr5:1260709 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.957G>A (p.Thr319=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372615]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545905]|not specified [RCV001818911] |
Chr5:1293929 [GRCh38]
Chr5:1294044 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2073C>T (p.Arg691=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541547] |
Chr5:1279348 [GRCh38]
Chr5:1279463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1041C>G (p.Leu347=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390873]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539422] |
Chr5:1293845 [GRCh38]
Chr5:1293960 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3189C>A (p.Gly1063=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549562] |
Chr5:1254474 [GRCh38]
Chr5:1254589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3295+7G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549596] |
Chr5:1254361 [GRCh38]
Chr5:1254476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.148C>T (p.Leu50=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390790]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538992] |
Chr5:1294842 [GRCh38]
Chr5:1294957 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-10T>C |
single nucleotide variant |
not provided [RCV000927228] |
Chr5:1264602 [GRCh38]
Chr5:1264717 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3012C>T (p.Ile1004=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169357]|Interstitial lung disease 2 [RCV001435030] |
Chr5:1258618 [GRCh38]
Chr5:1258733 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2250C>T (p.Ala750=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256589]|Dyskeratosis congenita [RCV002444997]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537539] |
Chr5:1278677 [GRCh38]
Chr5:1278792 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2739C>T (p.Ala913=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434305]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544626] |
Chr5:1264508 [GRCh38]
Chr5:1264623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV000786861]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535742] |
Chr5:1280312 [GRCh38]
Chr5:1280427 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 |
copy number loss |
not provided [RCV001005640] |
Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.136G>T (p.Ala46Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258324]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557667] |
Chr5:1294854 [GRCh38]
Chr5:1294969 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.719G>T (p.Arg240Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372326]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535489] |
Chr5:1294167 [GRCh38]
Chr5:1294282 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1692G>A (p.Thr564=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538048]|TERT-related condition [RCV003411788]|not provided [RCV003432774] |
Chr5:1282506 [GRCh38]
Chr5:1282621 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538063]|Dyskeratosis congenita, autosomal dominant 2 [RCV003461191]|not provided [RCV002261225] |
Chr5:1282438 [GRCh38]
Chr5:1282553 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2887G>A (p.Gly963Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534600] |
Chr5:1260557 [GRCh38]
Chr5:1260672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538139]|Dyskeratosis congenita, autosomal dominant 2 [RCV003461211]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002282376] |
Chr5:1272246 [GRCh38]
Chr5:1272361 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) |
single nucleotide variant |
Aplastic anemia [RCV001152717]|Dyskeratosis congenita, autosomal dominant 2 [RCV001152718]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534874]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152719]|not provided [RCV003233860] |
Chr5:1253804 [GRCh38]
Chr5:1253919 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538055]|Pulmonary fibrosis [RCV002509550] |
Chr5:1279316 [GRCh38]
Chr5:1279431 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.688C>T (p.Arg230Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538017] |
Chr5:1294198 [GRCh38]
Chr5:1294313 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.567C>A (p.His189Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002345778]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538019]|not provided [RCV003332255] |
Chr5:1294319 [GRCh38]
Chr5:1294434 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2446C>A (p.His816Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169017]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537489] |
Chr5:1271141 [GRCh38]
Chr5:1271256 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2367C>T (p.Ala789=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442850]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539081]|not provided [RCV003432823] |
Chr5:1272200 [GRCh38]
Chr5:1272315 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2516C>T (p.Thr839Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538068] |
Chr5:1268586 [GRCh38]
Chr5:1268701 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1625C>T (p.Ala542Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537050]|Dyskeratosis congenita, autosomal dominant 2 [RCV003472354] |
Chr5:1282573 [GRCh38]
Chr5:1282688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.759G>C (p.Gln253His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390647]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539942] |
Chr5:1294127 [GRCh38]
Chr5:1294242 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro) |
single nucleotide variant |
Interstitial lung disease 2 [RCV000797743] |
Chr5:1254434 [GRCh38]
Chr5:1254549 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2087G>A (p.Arg696His) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166109]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535896] |
Chr5:1279334 [GRCh38]
Chr5:1279449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-5C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539945] |
Chr5:1271209 [GRCh38]
Chr5:1271324 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.10G>C (p.Ala4Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537402] |
Chr5:1294980 [GRCh38]
Chr5:1295095 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.203C>T (p.Ala68Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535504] |
Chr5:1294787 [GRCh38]
Chr5:1294902 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.90C>T (p.Arg30=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372612]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542836] |
Chr5:1294900 [GRCh38]
Chr5:1295015 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386389]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536976] |
Chr5:1293559 [GRCh38]
Chr5:1293674 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2267G>A (p.Arg756His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442623]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535900] |
Chr5:1278660 [GRCh38]
Chr5:1278775 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1864C>T (p.Arg622Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534884]|not provided [RCV003229867] |
Chr5:1280244 [GRCh38]
Chr5:1280359 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.316_317inv (p.Gly106Pro) |
inversion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535505] |
Chr5:1294569..1294570 [GRCh38]
Chr5:1294684..1294685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2251G>A (p.Ala751Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442766]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535995]|not provided [RCV003325525] |
Chr5:1278676 [GRCh38]
Chr5:1278791 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1770-7A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539043] |
Chr5:1280345 [GRCh38]
Chr5:1280460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.392T>G (p.Leu131Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534742] |
Chr5:1294494 [GRCh38]
Chr5:1294609 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3213G>T (p.Gln1071His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538088] |
Chr5:1254450 [GRCh38]
Chr5:1254565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.944G>A (p.Arg315His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002370098]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537076] |
Chr5:1293942 [GRCh38]
Chr5:1294057 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1951G>C (p.Ala651Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534758] |
Chr5:1279470 [GRCh38]
Chr5:1279585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.719G>A (p.Arg240His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372321]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535469] |
Chr5:1294167 [GRCh38]
Chr5:1294282 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.566A>C (p.His189Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535472] |
Chr5:1294320 [GRCh38]
Chr5:1294435 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+6G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538035] |
Chr5:1272179 [GRCh38]
Chr5:1272294 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397610]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537121]|not provided [RCV003141795] |
Chr5:1294914 [GRCh38]
Chr5:1295029 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3317A>G (p.Lys1106Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537169] |
Chr5:1253810 [GRCh38]
Chr5:1253925 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.127G>A (p.Asp43Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534816]|Pulmonary fibrosis [RCV002509546] |
Chr5:1294863 [GRCh38]
Chr5:1294978 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1323G>T (p.Glu441Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386401]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534602] |
Chr5:1293563 [GRCh38]
Chr5:1293678 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NC_000005.9:g.(?_1293418)_(1295161_?)dup |
duplication |
Interstitial lung disease 2 [RCV000809984] |
Chr5:1293303..1295046 [GRCh38]
Chr5:1293418..1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_1280148)_(1280348_?)del |
deletion |
Interstitial lung disease 2 [RCV000810672] |
Chr5:1280148..1280348 [GRCh38]
Chr5:1280263..1280463 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1051A>G (p.Arg351Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390653]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534869] |
Chr5:1293835 [GRCh38]
Chr5:1293950 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2108C>T (p.Pro703Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002415917]|Dyskeratosis congenita, autosomal dominant 2 [RCV001250511]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537414] |
Chr5:1279313 [GRCh38]
Chr5:1279428 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538152] |
Chr5:1293436 [GRCh38]
Chr5:1293551 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2971-4_2971-3del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534707] |
Chr5:1258662..1258663 [GRCh38]
Chr5:1258777..1258778 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2743G>A (p.Gly915Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534652] |
Chr5:1264504 [GRCh38]
Chr5:1264619 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.202G>T (p.Ala68Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422753]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534773] |
Chr5:1294788 [GRCh38]
Chr5:1294903 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2915G>A (p.Arg972His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103843] |
Chr5:1260529 [GRCh38]
Chr5:1260644 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:1120346-1344342)x3 |
copy number gain |
not provided [RCV000848966] |
Chr5:1120346..1344342 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3200C>A (p.Ser1067Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536963] |
Chr5:1254463 [GRCh38]
Chr5:1254578 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.739G>C (p.Glu247Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386397]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537014] |
Chr5:1294147 [GRCh38]
Chr5:1294262 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002453776]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534746] |
Chr5:1253817 [GRCh38]
Chr5:1253932 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1805C>T (p.Ser602Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001331995]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537160] |
Chr5:1280303 [GRCh38]
Chr5:1280418 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535957] |
Chr5:1282512..1282513 [GRCh38]
Chr5:1282627..1282628 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.545C>G (p.Thr182Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535962] |
Chr5:1294341 [GRCh38]
Chr5:1294456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534648] |
Chr5:1294854 [GRCh38]
Chr5:1294969 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538163] |
Chr5:1272182 [GRCh38]
Chr5:1272297 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.902G>A (p.Arg301His) |
single nucleotide variant |
Acute myeloid leukemia [RCV003224469]|Dyskeratosis congenita, autosomal dominant 2 [RCV001027805]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535843] |
Chr5:1293984 [GRCh38]
Chr5:1294099 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1590G>C (p.Pro530=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768563]|not specified [RCV000826056] |
Chr5:1282608 [GRCh38]
Chr5:1282723 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001293959]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536010]|TERT-related condition [RCV003424366]|not provided [RCV003222148] |
Chr5:1264434 [GRCh38]
Chr5:1264549 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2221G>T (p.Val741Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537289]|not specified [RCV001816876] |
Chr5:1278706 [GRCh38]
Chr5:1278821 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534853]|Pulmonary fibrosis [RCV002509553]|not provided [RCV002508262] |
Chr5:1254476 [GRCh38]
Chr5:1254591 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325546]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103839]|not provided [RCV003238814] |
Chr5:1254491 [GRCh38]
Chr5:1254606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.22C>G (p.Arg8Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535875] |
Chr5:1294968 [GRCh38]
Chr5:1295083 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2776G>A (p.Gly926Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538049] |
Chr5:1264471 [GRCh38]
Chr5:1264586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+4T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538009] |
Chr5:1272181 [GRCh38]
Chr5:1272296 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1737T>A (p.Ser579Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406781]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534724] |
Chr5:1282461 [GRCh38]
Chr5:1282576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.581G>A (p.Arg194Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352369]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537151] |
Chr5:1294305 [GRCh38]
Chr5:1294420 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2987C>A (p.Thr996Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535952] |
Chr5:1258643 [GRCh38]
Chr5:1258758 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1853C>T (p.Thr618Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537316] |
Chr5:1280255 [GRCh38]
Chr5:1280370 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1372C>A (p.Pro458Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538102] |
Chr5:1293514 [GRCh38]
Chr5:1293629 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 |
copy number loss |
not provided [RCV001005641] |
Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 |
copy number loss |
not provided [RCV001005642] |
Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2 |
pathogenic |
| NM_198253.3(TERT):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537323] |
Chr5:1294162 [GRCh38]
Chr5:1294277 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_218346)_(1295046_?)del |
deletion |
Interstitial lung disease 2 [RCV001031825] |
Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1546G>C (p.Asp516His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538108] |
Chr5:1293340 [GRCh38]
Chr5:1293455 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.673G>A (p.Gly225Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538112] |
Chr5:1294213 [GRCh38]
Chr5:1294328 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1253956_?)dup |
duplication |
Interstitial lung disease 2 [RCV000809983] |
Chr5:1253718..1253841 [GRCh38]
Chr5:1253833..1253956 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2071C>T (p.Arg691Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534588]|not provided [RCV003480829] |
Chr5:1279350 [GRCh38]
Chr5:1279465 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1255536_?)dup |
duplication |
Interstitial lung disease 2 [RCV000823241] |
Chr5:1253718..1255421 [GRCh38]
Chr5:1253833..1255536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.892_893delinsAA (p.Ser298Asn) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538074] |
Chr5:1293993..1293994 [GRCh38]
Chr5:1294108..1294109 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.316G>C (p.Gly106Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552523] |
Chr5:1294570 [GRCh38]
Chr5:1294685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3042A>G (p.Ala1014=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442614]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535876]|TERT-related condition [RCV003965587] |
Chr5:1255402 [GRCh38]
Chr5:1255517 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.677G>T (p.Gly226Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002363140]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535461] |
Chr5:1294209 [GRCh38]
Chr5:1294324 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1324G>A (p.Asp442Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002534795] |
Chr5:1293562 [GRCh38]
Chr5:1293677 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2020G>A (p.Gly674Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103841] |
Chr5:1279401 [GRCh38]
Chr5:1279516 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2971-6C>T |
single nucleotide variant |
not provided [RCV000873027] |
Chr5:1258665 [GRCh38]
Chr5:1258780 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.566A>G (p.His189Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002345863]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537390] |
Chr5:1294320 [GRCh38]
Chr5:1294435 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1657G>A (p.Val553Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002259020]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537197] |
Chr5:1282541 [GRCh38]
Chr5:1282656 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.474C>A (p.Leu158=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002332881]|Interstitial lung disease 2 [RCV001453382] |
Chr5:1294412 [GRCh38]
Chr5:1294527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1701G>A (p.Thr567=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409093]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103862] |
Chr5:1282497 [GRCh38]
Chr5:1282612 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1842C>T (p.Pro614=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409116]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540012]|TERT-related condition [RCV003930442] |
Chr5:1280266 [GRCh38]
Chr5:1280381 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2368G>A (p.Val790Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537395] |
Chr5:1272199 [GRCh38]
Chr5:1272314 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2868C>T (p.Ala956=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434132]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103869] |
Chr5:1260576 [GRCh38]
Chr5:1260691 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.462A>T (p.Ala154=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002336977]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544576] |
Chr5:1294424 [GRCh38]
Chr5:1294539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.9:g.(?_1253833)_(1295114_?)dup |
duplication |
Interstitial lung disease 2 [RCV000796133] |
Chr5:1253718..1294999 [GRCh38]
Chr5:1253833..1295114 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2053G>A (p.Asp685Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535497] |
Chr5:1279368 [GRCh38]
Chr5:1279483 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2248G>A (p.Ala750Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535502] |
Chr5:1278679 [GRCh38]
Chr5:1278794 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.438C>T (p.Asp146=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002332835]|Interstitial lung disease 2 [RCV001393960] |
Chr5:1294448 [GRCh38]
Chr5:1294563 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1924G>A (p.Ala642Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406827]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537350] |
Chr5:1280184 [GRCh38]
Chr5:1280299 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.547C>G (p.Gln183Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002345838]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537351] |
Chr5:1294339 [GRCh38]
Chr5:1294454 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1918G>T (p.Val640Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538030] |
Chr5:1280190 [GRCh38]
Chr5:1280305 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.577C>T (p.Pro193Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536986] |
Chr5:1294309 [GRCh38]
Chr5:1294424 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.893C>G (p.Ser298Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002370090]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537038] |
Chr5:1293993 [GRCh38]
Chr5:1294108 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2449G>A (p.Ala817Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424862]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534756] |
Chr5:1271138 [GRCh38]
Chr5:1271253 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3350C>A (p.Ala1117Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537456] |
Chr5:1253777 [GRCh38]
Chr5:1253892 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1236C>T (p.His412=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002363288]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103880] |
Chr5:1293650 [GRCh38]
Chr5:1293765 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.973T>G (p.Tyr325Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002537461] |
Chr5:1293913 [GRCh38]
Chr5:1294028 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.737C>T (p.Pro246Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002381839]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535442] |
Chr5:1294149 [GRCh38]
Chr5:1294264 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_198253.3(TERT):c.895G>A (p.Val299Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536948]|Interstitial lung disease 2 [RCV002477800] |
Chr5:1293991 [GRCh38]
Chr5:1294106 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3103G>A (p.Val1035Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538104]|not provided [RCV003480856] |
Chr5:1255341 [GRCh38]
Chr5:1255456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325538]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534659]|TERT-related condition [RCV003983208] |
Chr5:1253781 [GRCh38]
Chr5:1253896 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256553]|Dyskeratosis congenita [RCV002397733]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103847] |
Chr5:1293334 [GRCh38]
Chr5:1293449 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.416T>G (p.Leu139Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002535996]|Pulmonary fibrosis [RCV002509557] |
Chr5:1294470 [GRCh38]
Chr5:1294585 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1013A>G (p.Lys338Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002370118]|Dyskeratosis congenita, autosomal dominant 2 [RCV002534676] |
Chr5:1293873 [GRCh38]
Chr5:1293988 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1436G>A (p.Gly479Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390695]|Dyskeratosis congenita, autosomal dominant 2 [RCV002537493] |
Chr5:1293450 [GRCh38]
Chr5:1293565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1676C>G (p.Ser559Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397559]|Dyskeratosis congenita, autosomal dominant 2 [RCV002535785]|not provided [RCV000788645] |
Chr5:1282522 [GRCh38]
Chr5:1282637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.*339T>C |
single nucleotide variant |
Aplastic anemia [RCV001158084]|Dyskeratosis congenita, autosomal dominant 2 [RCV001158085]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152615] |
Chr5:1253389 [GRCh38]
Chr5:1253504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1232C>T (p.Thr411Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002365768]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554528] |
Chr5:1293654 [GRCh38]
Chr5:1293769 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_1253728)_(1253841_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103888] |
Chr5:1253843..1253956 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_1253708)_(1272300_?)dup |
duplication |
Interstitial lung disease 2 [RCV001032033] |
Chr5:1253823..1272415 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2267G>T (p.Arg756Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552535] |
Chr5:1278660 [GRCh38]
Chr5:1278775 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:1088198-1274440)x3 |
copy number gain |
not provided [RCV000846463] |
Chr5:1088198..1274440 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2076C>A (p.Thr692=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416039]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539051]|not specified [RCV001816986] |
Chr5:1279345 [GRCh38]
Chr5:1279460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1846C>T (p.Leu616=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409230]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542323] |
Chr5:1280262 [GRCh38]
Chr5:1280377 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3153C>T (p.Asn1051=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320015]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539953] |
Chr5:1255291 [GRCh38]
Chr5:1255406 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 |
copy number loss |
not provided [RCV001005643] |
Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 |
copy number loss |
not provided [RCV001005645] |
Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:944046-1541755)x3 |
copy number gain |
not provided [RCV001005647] |
Chr5:944046..1541755 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.902G>T (p.Arg301Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563726] |
Chr5:1293984 [GRCh38]
Chr5:1294099 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1639T>G (p.Trp547Gly) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001246564] |
Chr5:1282559 [GRCh38]
Chr5:1282674 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) |
copy number loss |
5p partial monosomy syndrome [RCV001195139] |
Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.3272C>T (p.Pro1091Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560295] |
Chr5:1254391 [GRCh38]
Chr5:1254506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.568G>A (p.Ala190Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003163764]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562609]|not specified [RCV003151291] |
Chr5:1294318 [GRCh38]
Chr5:1294433 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.319G>A (p.Ala107Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563239] |
Chr5:1294567 [GRCh38]
Chr5:1294682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.124G>A (p.Gly42Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561671] |
Chr5:1294866 [GRCh38]
Chr5:1294981 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002430013]|Interstitial lung disease 2 [RCV001237421] |
Chr5:1268577 [GRCh38]
Chr5:1268692 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2773C>T (p.His925Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563890] |
Chr5:1264474 [GRCh38]
Chr5:1264589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.814G>A (p.Val272Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561199] |
Chr5:1294072 [GRCh38]
Chr5:1294187 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1153C>T (p.Arg385Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563029]|not specified [RCV001819920] |
Chr5:1293733 [GRCh38]
Chr5:1293848 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.785C>T (p.Thr262Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567926]|not provided [RCV002307706] |
Chr5:1294101 [GRCh38]
Chr5:1294216 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.554G>A (p.Arg185Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562589] |
Chr5:1294332 [GRCh38]
Chr5:1294447 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563111]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473789] |
Chr5:1280280 [GRCh38]
Chr5:1280395 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.772C>T (p.His258Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002402617]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561711] |
Chr5:1294114 [GRCh38]
Chr5:1294229 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.664A>T (p.Arg222Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561915] |
Chr5:1294222 [GRCh38]
Chr5:1294337 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655G>C (p.Arg885Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002429944]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562568]|not provided [RCV003222262] |
Chr5:1264592 [GRCh38]
Chr5:1264707 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.282G>T (p.Lys94Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567886] |
Chr5:1294604 [GRCh38]
Chr5:1294719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2402C>G (p.Ala801Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451517]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562559] |
Chr5:1271185 [GRCh38]
Chr5:1271300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1743G>T (p.Trp581Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563985] |
Chr5:1282455 [GRCh38]
Chr5:1282570 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2272G>T (p.Ala758Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563679] |
Chr5:1278655 [GRCh38]
Chr5:1278770 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.964C>G (p.Pro322Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563680] |
Chr5:1293922 [GRCh38]
Chr5:1294037 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.102G>A (p.Gln34=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379844]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562583] |
Chr5:1294888 [GRCh38]
Chr5:1295003 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1574-1G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563064] |
Chr5:1282625 [GRCh38]
Chr5:1282740 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.935G>A (p.Arg312Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563011] |
Chr5:1293951 [GRCh38]
Chr5:1294066 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001223376] |
Chr5:1254407 [GRCh38]
Chr5:1254522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3268G>C (p.Val1090Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567943] |
Chr5:1254395 [GRCh38]
Chr5:1254510 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3208G>A (p.Val1070Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447129]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563066] |
Chr5:1254455 [GRCh38]
Chr5:1254570 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.770C>G (p.Ala257Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562515] |
Chr5:1294116 [GRCh38]
Chr5:1294231 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2081T>C (p.Val694Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561721] |
Chr5:1279340 [GRCh38]
Chr5:1279455 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.535G>A (p.Gly179Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563040] |
Chr5:1294351 [GRCh38]
Chr5:1294466 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1421C>T (p.Pro474Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563043] |
Chr5:1293465 [GRCh38]
Chr5:1293580 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561656] |
Chr5:1254452 [GRCh38]
Chr5:1254567 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.188G>A (p.Arg63Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561849] |
Chr5:1294802 [GRCh38]
Chr5:1294917 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.560C>G (p.Pro187Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563048]|TERT-related condition [RCV003414020] |
Chr5:1294326 [GRCh38]
Chr5:1294441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2703G>T (p.Arg901=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562357] |
Chr5:1264544 [GRCh38]
Chr5:1264659 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.751G>C (p.Val251Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393554]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563667]|not provided [RCV002464414] |
Chr5:1294135 [GRCh38]
Chr5:1294250 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1291C>A (p.Pro431Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379798]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561728] |
Chr5:1293595 [GRCh38]
Chr5:1293710 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563668] |
Chr5:1293963 [GRCh38]
Chr5:1294078 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+5T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563081] |
Chr5:1282424 [GRCh38]
Chr5:1282539 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2605G>T (p.Asp869Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562987] |
Chr5:1266513 [GRCh38]
Chr5:1266628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003150823]|Dyskeratosis congenita, autosomal dominant 2 [RCV003770256]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003150824]|not provided [RCV001819918] |
Chr5:1266480 [GRCh38]
Chr5:1266595 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.1138C>A (p.Pro380Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322090]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562594] |
Chr5:1293748 [GRCh38]
Chr5:1293863 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3296-8C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562595] |
Chr5:1253839 [GRCh38]
Chr5:1253954 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.544A>G (p.Thr182Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002348759]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563084] |
Chr5:1294342 [GRCh38]
Chr5:1294457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1301C>T (p.Ser434Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379911]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563927] |
Chr5:1293585 [GRCh38]
Chr5:1293700 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1761T>G (p.Ile587Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002411887]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563992] |
Chr5:1282437 [GRCh38]
Chr5:1282552 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256713]|Dyskeratosis congenita [RCV002402719]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563174] |
Chr5:1293843 [GRCh38]
Chr5:1293958 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2644A>T (p.Thr882Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561739] |
Chr5:1266474 [GRCh38]
Chr5:1266589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2444A>C (p.His815Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563857] |
Chr5:1271143 [GRCh38]
Chr5:1271258 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.875C>G (p.Thr292Arg) |
single nucleotide variant |
Aplastic anemia [RCV001152945]|Dyskeratosis congenita, autosomal dominant 2 [RCV001152944]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557295]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152946]|not provided [RCV003322854] |
Chr5:1294011 [GRCh38]
Chr5:1294126 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.783G>C (p.Arg261Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563712] |
Chr5:1294103 [GRCh38]
Chr5:1294218 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.965C>G (p.Pro322Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002375166]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561761] |
Chr5:1293921 [GRCh38]
Chr5:1294036 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.*64G>A |
single nucleotide variant |
Aplastic anemia [RCV001158195]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154746]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154747] |
Chr5:1253664 [GRCh38]
Chr5:1253779 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1122_1134del (p.Thr375fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV001250577] |
Chr5:1293752..1293764 [GRCh38]
Chr5:1293867..1293879 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2603A>G (p.Asp868Gly) |
single nucleotide variant |
not provided [RCV001093475] |
Chr5:1266515 [GRCh38]
Chr5:1266630 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) |
indel |
Dyskeratosis congenita [RCV002445357]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768977]|Pulmonary fibrosis [RCV002509610]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003229613] |
Chr5:1294578..1294579 [GRCh38]
Chr5:1294693..1294694 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2691G>A (p.Val897=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561800] |
Chr5:1264556 [GRCh38]
Chr5:1264671 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1958G>A (p.Arg653His) |
single nucleotide variant |
Dyskeratosis congenita [RCV003373037]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561790] |
Chr5:1279463 [GRCh38]
Chr5:1279578 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.937C>A (p.Pro313Thr) |
single nucleotide variant |
not provided [RCV003127093] |
Chr5:1293949 [GRCh38]
Chr5:1294064 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.444G>T (p.Val148=) |
single nucleotide variant |
not provided [RCV003235896] |
Chr5:1294442 [GRCh38]
Chr5:1294557 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-133C>T |
single nucleotide variant |
not provided [RCV001551034] |
Chr5:1254638 [GRCh38]
Chr5:1254753 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-162G>T |
single nucleotide variant |
not provided [RCV001577464] |
Chr5:1260762 [GRCh38]
Chr5:1260877 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-243A>G |
single nucleotide variant |
not provided [RCV001585338] |
Chr5:1272523 [GRCh38]
Chr5:1272638 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-236A>C |
single nucleotide variant |
not provided [RCV001560629] |
Chr5:1272516 [GRCh38]
Chr5:1272631 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-122C>T |
single nucleotide variant |
not provided [RCV001568803] |
Chr5:1260722 [GRCh38]
Chr5:1260837 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-192C>T |
single nucleotide variant |
not provided [RCV001576722] |
Chr5:1264784 [GRCh38]
Chr5:1264899 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-103G>A |
single nucleotide variant |
not provided [RCV001586355] |
Chr5:1272383 [GRCh38]
Chr5:1272498 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-42C>T |
single nucleotide variant |
not provided [RCV001642069] |
Chr5:1279512 [GRCh38]
Chr5:1279627 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2383-205A>G |
single nucleotide variant |
not provided [RCV001674539] |
Chr5:1271409 [GRCh38]
Chr5:1271524 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.421C>G (p.Leu141Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329685]|not provided [RCV001577737] |
Chr5:1294465 [GRCh38]
Chr5:1294580 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NC_000005.10:g.1295344GC[2] |
microsatellite |
not provided [RCV001558168] |
Chr5:1295343..1295344 [GRCh38]
Chr5:1295458..1295459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.10:g.1295337C>G |
single nucleotide variant |
not provided [RCV001643778] |
Chr5:1295337 [GRCh38]
Chr5:1295452 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1950+145A>G |
single nucleotide variant |
not provided [RCV001677650] |
Chr5:1280013 [GRCh38]
Chr5:1280128 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3158-253G>A |
single nucleotide variant |
not provided [RCV001558709] |
Chr5:1254758 [GRCh38]
Chr5:1254873 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+39G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001838705]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001838706]|not provided [RCV001609735] |
Chr5:1293274 [GRCh38]
Chr5:1293389 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2582+55G>A |
single nucleotide variant |
not provided [RCV001686522] |
Chr5:1268465 [GRCh38]
Chr5:1268580 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2970+140T>C |
single nucleotide variant |
not provided [RCV001540374] |
Chr5:1260334 [GRCh38]
Chr5:1260449 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1215C>T (p.Tyr405=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002354710]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536793]|not provided [RCV003438545] |
Chr5:1293671 [GRCh38]
Chr5:1293786 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-7G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538911] |
Chr5:1268640 [GRCh38]
Chr5:1268755 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1806G>A (p.Ser602=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409268]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547234]|TERT-related condition [RCV003915796] |
Chr5:1280302 [GRCh38]
Chr5:1280417 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-7C>T |
single nucleotide variant |
Interstitial lung disease 2 [RCV001476786] |
Chr5:1253838 [GRCh38]
Chr5:1253953 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2337C>T (p.His779=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169345]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544423] |
Chr5:1272230 [GRCh38]
Chr5:1272345 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2556G>A (p.Lys852=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548415] |
Chr5:1268546 [GRCh38]
Chr5:1268661 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+8G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002536233] |
Chr5:1258590 [GRCh38]
Chr5:1258705 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2619G>A (p.Val873=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427336]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768884] |
Chr5:1266499 [GRCh38]
Chr5:1266614 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.672C>T (p.Arg224=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002259047]|Dyskeratosis congenita [RCV002363357]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542099] |
Chr5:1294214 [GRCh38]
Chr5:1294329 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2328C>T (p.Phe776=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442842]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539035]|not provided [RCV003432818] |
Chr5:1272239 [GRCh38]
Chr5:1272354 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3159G>A (p.Gly1053=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320013]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539070]|TERT-related condition [RCV003895314]|not specified [RCV001816995] |
Chr5:1254504 [GRCh38]
Chr5:1254619 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-8G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550559] |
Chr5:1272288 [GRCh38]
Chr5:1272403 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1653G>A (p.Val551=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391012]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548347] |
Chr5:1282545 [GRCh38]
Chr5:1282660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3309G>A (p.Leu1103=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320105]|not provided [RCV000928824] |
Chr5:1253818 [GRCh38]
Chr5:1253933 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1425A>C (p.Pro475=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001441799] |
Chr5:1293461 [GRCh38]
Chr5:1293576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2109G>T (p.Pro703=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416142]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542160] |
Chr5:1279312 [GRCh38]
Chr5:1279427 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.618C>T (p.Ser206=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538956]|TERT-related condition [RCV003938269]|not specified [RCV001816969] |
Chr5:1294268 [GRCh38]
Chr5:1294383 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1677T>G (p.Ser559=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400044]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544436] |
Chr5:1282521 [GRCh38]
Chr5:1282636 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3324G>C (p.Pro1108=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001437746] |
Chr5:1253803 [GRCh38]
Chr5:1253918 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.837C>T (p.Ala279=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434131]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104003] |
Chr5:1294049 [GRCh38]
Chr5:1294164 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1144C>T (p.Leu382=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768902] |
Chr5:1293742 [GRCh38]
Chr5:1293857 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2421C>T (p.Asp807=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002453985]|Dyskeratosis congenita, autosomal dominant 2 [RCV002536783] |
Chr5:1271166 [GRCh38]
Chr5:1271281 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1374C>T (p.Pro458=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382098]|Dyskeratosis congenita, autosomal dominant 2 [RCV003768853] |
Chr5:1293512 [GRCh38]
Chr5:1293627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1494G>A (p.Gly498=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390763]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538947] |
Chr5:1293392 [GRCh38]
Chr5:1293507 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1335C>T (p.Pro445=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003768854] |
Chr5:1293551 [GRCh38]
Chr5:1293666 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3000C>T (p.Asn1000=) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001498028] |
Chr5:1258630 [GRCh38]
Chr5:1258745 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3124C>T (p.Leu1042Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563025] |
Chr5:1255320 [GRCh38]
Chr5:1255435 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.162C>A (p.Cys54Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563175] |
Chr5:1294828 [GRCh38]
Chr5:1294943 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562550]|TERT-related condition [RCV003398963] |
Chr5:1279350 [GRCh38]
Chr5:1279465 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1134G>T (p.Arg378Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322095]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563672] |
Chr5:1293752 [GRCh38]
Chr5:1293867 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.712C>T (p.Pro238Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002568588] |
Chr5:1294174 [GRCh38]
Chr5:1294289 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.754G>A (p.Gly252Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393556]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563094] |
Chr5:1294132 [GRCh38]
Chr5:1294247 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1950+5C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564038] |
Chr5:1280153 [GRCh38]
Chr5:1280268 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655G>A (p.Arg885=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561846]|not provided [RCV003438722] |
Chr5:1264592 [GRCh38]
Chr5:1264707 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1073G>A (p.Arg358Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562989] |
Chr5:1293813 [GRCh38]
Chr5:1293928 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.934C>T (p.Arg312Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562563] |
Chr5:1293952 [GRCh38]
Chr5:1294067 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.848C>T (p.Thr283Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002568606] |
Chr5:1294038 [GRCh38]
Chr5:1294153 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549266]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001007598] |
Chr5:1253793 [GRCh38]
Chr5:1253908 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.110G>A (p.Arg37Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562570] |
Chr5:1294880 [GRCh38]
Chr5:1294995 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.260G>A (p.Arg87Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002568609]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473827] |
Chr5:1294626 [GRCh38]
Chr5:1294741 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1401C>T (p.Ala467=) |
single nucleotide variant |
Aplastic anemia [RCV001154650]|Dyskeratosis congenita [RCV002393369]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154652]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557323]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154651] |
Chr5:1293485 [GRCh38]
Chr5:1293600 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1003T>C (p.Ser335Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561850] |
Chr5:1293883 [GRCh38]
Chr5:1293998 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1327A>G (p.Thr443Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379546]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553734] |
Chr5:1293559 [GRCh38]
Chr5:1293674 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3313C>T (p.Arg1105Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562348] |
Chr5:1253814 [GRCh38]
Chr5:1253929 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) |
single nucleotide variant |
Aplastic anemia [RCV001155361]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155360]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155362] |
Chr5:1279418 [GRCh38]
Chr5:1279533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1450G>A (p.Glu484Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103935] |
Chr5:1293436 [GRCh38]
Chr5:1293551 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.981G>T (p.Glu327Asp) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001043622] |
Chr5:1293905 [GRCh38]
Chr5:1294020 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.191C>T (p.Pro64Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563811] |
Chr5:1294799 [GRCh38]
Chr5:1294914 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.847A>C (p.Thr283Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445269]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553258]|Interstitial lung disease 2 [RCV002481964] |
Chr5:1294039 [GRCh38]
Chr5:1294154 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001240515] |
Chr5:1294248 [GRCh38]
Chr5:1294363 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3314G>A (p.Arg1105Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554493] |
Chr5:1253813 [GRCh38]
Chr5:1253928 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1336C>G (p.Arg446Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555881] |
Chr5:1293550 [GRCh38]
Chr5:1293665 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.611A>T (p.Asn204Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002355025]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553163]|not provided [RCV003226999] |
Chr5:1294275 [GRCh38]
Chr5:1294390 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434434]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551377]|Interstitial lung disease 2 [RCV002253765]|TERT-related condition [RCV003393793] |
Chr5:1260593 [GRCh38]
Chr5:1260708 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.483G>A (p.Leu161=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002339599]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563655] |
Chr5:1294403 [GRCh38]
Chr5:1294518 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1577T>C (p.Val526Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564079] |
Chr5:1282621 [GRCh38]
Chr5:1282736 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003770255] |
Chr5:1294062 [GRCh38]
Chr5:1294177 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1648A>C (p.Ser550Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563984] |
Chr5:1282550 [GRCh38]
Chr5:1282665 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1253C>T (p.Ala418Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003163753]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563063] |
Chr5:1293633 [GRCh38]
Chr5:1293748 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1729C>T (p.Arg577Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554525] |
Chr5:1282469 [GRCh38]
Chr5:1282584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2637C>G (p.His879Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436889]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563161] |
Chr5:1266481 [GRCh38]
Chr5:1266596 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NC_000005.10:g.(?_1253728)_(1255421_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003117711]|Interstitial lung disease 2 [RCV001033815] |
Chr5:1253843..1255536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.979G>C (p.Glu327Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379797]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561724]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473755]|TERT-related condition [RCV003898204] |
Chr5:1293907 [GRCh38]
Chr5:1294022 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 |
copy number loss |
not provided [RCV001005646] |
Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_198253.3(TERT):c.2626C>A (p.His876Asn) |
single nucleotide variant |
Aplastic anemia [RCV001152942]|Dyskeratosis congenita, autosomal dominant 2 [RCV001152940]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557294]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152941] |
Chr5:1266492 [GRCh38]
Chr5:1266607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+10G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562602] |
Chr5:1254358 [GRCh38]
Chr5:1254473 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3115A>G (p.Thr1039Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322156]|Dyskeratosis congenita, autosomal dominant 2 [RCV002568574] |
Chr5:1255329 [GRCh38]
Chr5:1255444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1398G>T (p.Arg466=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544497] |
Chr5:1293488 [GRCh38]
Chr5:1293603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1854G>T (p.Thr618=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409223]|Dyskeratosis congenita, autosomal dominant 2 [RCV002544500] |
Chr5:1280254 [GRCh38]
Chr5:1280369 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2277C>T (p.Phe759=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544483] |
Chr5:1278650 [GRCh38]
Chr5:1278765 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2637C>T (p.His879=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454088]|Dyskeratosis congenita, autosomal dominant 2 [RCV002540840] |
Chr5:1266481 [GRCh38]
Chr5:1266596 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1791G>A (p.Gln597=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400055]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542309] |
Chr5:1280317 [GRCh38]
Chr5:1280432 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1977G>A (p.Lys659=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169380]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542292] |
Chr5:1279444 [GRCh38]
Chr5:1279559 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1950+21C>T |
single nucleotide variant |
not provided [RCV001551181] |
Chr5:1280137 [GRCh38]
Chr5:1280252 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2382+109G>T |
single nucleotide variant |
not provided [RCV001575632] |
Chr5:1272076 [GRCh38]
Chr5:1272191 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-298T>G |
single nucleotide variant |
not provided [RCV001552023] |
Chr5:1282922 [GRCh38]
Chr5:1283037 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+309G>T |
single nucleotide variant |
not provided [RCV001563345] |
Chr5:1278332 [GRCh38]
Chr5:1278447 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.508G>C (p.Val170Leu) |
single nucleotide variant |
not provided [RCV001552739] |
Chr5:1294378 [GRCh38]
Chr5:1294493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-263TG[3] |
microsatellite |
not provided [RCV001552758] |
Chr5:1272539..1272540 [GRCh38]
Chr5:1272654..1272655 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 |
copy number loss |
not provided [RCV002472712] |
Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.2970+128C>T |
single nucleotide variant |
not provided [RCV001546046] |
Chr5:1260346 [GRCh38]
Chr5:1260461 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.569C>A (p.Ala190Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003276680] |
Chr5:1294317 [GRCh38]
Chr5:1294432 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.710G>A (p.Arg237Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554502] |
Chr5:1294176 [GRCh38]
Chr5:1294291 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2381A>G (p.Gln794Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552575] |
Chr5:1272186 [GRCh38]
Chr5:1272301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.743G>C (p.Arg248Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103919] |
Chr5:1294143 [GRCh38]
Chr5:1294258 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+385A>G |
single nucleotide variant |
not provided [RCV001608222] |
Chr5:1282044 [GRCh38]
Chr5:1282159 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1951-228T>G |
single nucleotide variant |
not provided [RCV001593621] |
Chr5:1279698 [GRCh38]
Chr5:1279813 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003771871]|not provided [RCV001723468] |
Chr5:1272255 [GRCh38]
Chr5:1272370 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.3295+236G>C |
single nucleotide variant |
not provided [RCV001597427] |
Chr5:1254132 [GRCh38]
Chr5:1254247 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3033-318G>A |
single nucleotide variant |
not provided [RCV001594003] |
Chr5:1255729 [GRCh38]
Chr5:1255844 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-245T>C |
single nucleotide variant |
not provided [RCV001588094] |
Chr5:1272525 [GRCh38]
Chr5:1272640 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-279G>C |
single nucleotide variant |
not provided [RCV001677068] |
Chr5:1266814 [GRCh38]
Chr5:1266929 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2469-196A>T |
single nucleotide variant |
not provided [RCV001595254] |
Chr5:1268829 [GRCh38]
Chr5:1268944 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.*83G>A |
single nucleotide variant |
Aplastic anemia [RCV001154745]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154743]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154744] |
Chr5:1253645 [GRCh38]
Chr5:1253760 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) |
single nucleotide variant |
Aplastic anemia [RCV001155585]|Dyskeratosis congenita [RCV002393370]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155586]|Dyskeratosis congenita, autosomal dominant 2 [RCV002558351]|Interstitial lung disease 2 [RCV002491450]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155584] |
Chr5:1294122 [GRCh38]
Chr5:1294237 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2639C>T (p.Ala880Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554874]|not provided [RCV001093474] |
Chr5:1266479 [GRCh38]
Chr5:1266594 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.671G>A (p.Arg224His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552075] |
Chr5:1294215 [GRCh38]
Chr5:1294330 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3032+6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555907] |
Chr5:1258592 [GRCh38]
Chr5:1258707 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.483G>C (p.Leu161=) |
single nucleotide variant |
Aplastic anemia [RCV001151814]|Dyskeratosis congenita, autosomal dominant 2 [RCV001153058]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557276]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001151815] |
Chr5:1294403 [GRCh38]
Chr5:1294518 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NC_000005.10:g.(?_218349)_(1297373_?)del |
deletion |
Interstitial lung disease 2 [RCV001032442] |
Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2582+3G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552551] |
Chr5:1268517 [GRCh38]
Chr5:1268632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.*237C>T |
single nucleotide variant |
Aplastic anemia [RCV001152621]|Dyskeratosis congenita, autosomal dominant 2 [RCV001152620]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152619] |
Chr5:1253491 [GRCh38]
Chr5:1253606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2852G>A (p.Arg951Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436572]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552581] |
Chr5:1260592 [GRCh38]
Chr5:1260707 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.230T>C (p.Leu77Pro) |
single nucleotide variant |
Abnormal pulmonary interstitial morphology [RCV001172441]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104009]|Pulmonary fibrosis [RCV002509620]|not provided [RCV001819874] |
Chr5:1294656 [GRCh38]
Chr5:1294771 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436729]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559651]|Macrocytic anemia [RCV001172444]|Pulmonary fibrosis [RCV002509621]|not provided [RCV001819875] |
Chr5:1264435 [GRCh38]
Chr5:1264550 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele |
| NM_198253.3(TERT):c.2145C>T (p.Gly715=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258103]|Dyskeratosis congenita [RCV003160368]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552631]|Melanoma, cutaneous malignant, susceptibility to, 9 [RCV002290572] |
Chr5:1278782 [GRCh38]
Chr5:1278897 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1769+130C>T |
single nucleotide variant |
not provided [RCV001695290] |
Chr5:1282299 [GRCh38]
Chr5:1282414 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.976G>A (p.Ala326Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379629]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555899]|not provided [RCV002298867] |
Chr5:1293910 [GRCh38]
Chr5:1294025 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393243]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553196] |
Chr5:1293448 [GRCh38]
Chr5:1293563 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2469-258A>G |
single nucleotide variant |
not provided [RCV001685906] |
Chr5:1268891 [GRCh38]
Chr5:1269006 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3032+152_3032+153dup |
duplication |
not provided [RCV001695383] |
Chr5:1258444..1258445 [GRCh38]
Chr5:1258559..1258560 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1951-230_1951-229del |
microsatellite |
not provided [RCV001588702] |
Chr5:1279699..1279700 [GRCh38]
Chr5:1279814..1279815 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.*308A>G |
single nucleotide variant |
Aplastic anemia [RCV001152618]|Dyskeratosis congenita, autosomal dominant 2 [RCV001152616]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001152617] |
Chr5:1253420 [GRCh38]
Chr5:1253535 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3033-96A>G |
single nucleotide variant |
not provided [RCV001693299] |
Chr5:1255507 [GRCh38]
Chr5:1255622 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1770-24C>T |
single nucleotide variant |
not provided [RCV001685085] |
Chr5:1280362 [GRCh38]
Chr5:1280477 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2844-337C>T |
single nucleotide variant |
not provided [RCV001669429] |
Chr5:1260937 [GRCh38]
Chr5:1261052 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2582+171T>C |
single nucleotide variant |
not provided [RCV001685765] |
Chr5:1268349 [GRCh38]
Chr5:1268464 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
not provided [RCV001702989] |
Chr5:1294491 [GRCh38]
Chr5:1294606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2831G>A (p.Ser944Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002436582]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552626]|not provided [RCV003233936] |
Chr5:1264416 [GRCh38]
Chr5:1264531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+379A>G |
single nucleotide variant |
not provided [RCV001708629] |
Chr5:1282050 [GRCh38]
Chr5:1282165 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1770A>G (p.Arg590=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002402473]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554592] |
Chr5:1280338 [GRCh38]
Chr5:1280453 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2469-99T>G |
single nucleotide variant |
not provided [RCV001679198] |
Chr5:1268732 [GRCh38]
Chr5:1268847 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1580G>T (p.Gly527Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555892] |
Chr5:1282618 [GRCh38]
Chr5:1282733 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.352A>T (p.Ser118Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451206]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553225] |
Chr5:1294534 [GRCh38]
Chr5:1294649 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-218C>G |
single nucleotide variant |
not provided [RCV001589446]|not specified [RCV001821918] |
Chr5:1295207 [GRCh38]
Chr5:1295322 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_198253.3(TERT):c.2287-234A>G |
single nucleotide variant |
not provided [RCV001589656] |
Chr5:1272514 [GRCh38]
Chr5:1272629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320337]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554514] |
Chr5:1254412 [GRCh38]
Chr5:1254527 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2704A>T (p.Lys902Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554599] |
Chr5:1264543 [GRCh38]
Chr5:1264658 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.10:g.1295258C>T |
single nucleotide variant |
not provided [RCV001680509] |
Chr5:1295258 [GRCh38]
Chr5:1295373 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.665G>C (p.Arg222Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002366037]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563785] |
Chr5:1294221 [GRCh38]
Chr5:1294336 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1028C>G (p.Pro343Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553876] |
Chr5:1293858 [GRCh38]
Chr5:1293973 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.676G>T (p.Gly226Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562461] |
Chr5:1294210 [GRCh38]
Chr5:1294325 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2599G>A (p.Val867Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002518411]|Pulmonary fibrosis [RCV002509334]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002327153] |
Chr5:1266519 [GRCh38]
Chr5:1266634 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.774C>A (p.His258Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563234] |
Chr5:1294112 [GRCh38]
Chr5:1294227 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1261C>T (p.Pro421Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561925] |
Chr5:1293625 [GRCh38]
Chr5:1293740 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.968C>T (p.Pro323Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553212] |
Chr5:1293918 [GRCh38]
Chr5:1294033 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1046C>T (p.Ser349Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391122]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553082]|Dyskeratosis congenita, autosomal dominant 2 [RCV003461458] |
Chr5:1293840 [GRCh38]
Chr5:1293955 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1081G>C (p.Val361Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103911] |
Chr5:1293805 [GRCh38]
Chr5:1293920 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+3C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562338]|TERT-related condition [RCV003983850] |
Chr5:1272182 [GRCh38]
Chr5:1272297 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.686G>A (p.Ser229Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002366045]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563843] |
Chr5:1294200 [GRCh38]
Chr5:1294315 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1729C>A (p.Arg577=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103906] |
Chr5:1282469 [GRCh38]
Chr5:1282584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1559T>C (p.Leu520Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103914] |
Chr5:1293327 [GRCh38]
Chr5:1293442 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1099G>T (p.Gly367Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451241]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554405]|not provided [RCV003222209] |
Chr5:1293787 [GRCh38]
Chr5:1293902 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1292C>T (p.Pro431Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379778]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561184] |
Chr5:1293594 [GRCh38]
Chr5:1293709 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.484G>A (p.Val162Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564127] |
Chr5:1294402 [GRCh38]
Chr5:1294517 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1824G>T (p.Gln608His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103930]|not provided [RCV003324819] |
Chr5:1280284 [GRCh38]
Chr5:1280399 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1573+3G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561117] |
Chr5:1293310 [GRCh38]
Chr5:1293425 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166461]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563844] |
Chr5:1268526 [GRCh38]
Chr5:1268641 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.347C>T (p.Thr116Ile) |
single nucleotide variant |
Abnormal pulmonary interstitial morphology [RCV001172400]|not provided [RCV001819873] |
Chr5:1294539 [GRCh38]
Chr5:1294654 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) |
single nucleotide variant |
Acute myeloid leukemia [RCV001172450]|Dyskeratosis congenita [RCV002411664]|Dyskeratosis congenita, autosomal dominant 2 [RCV002558734]|Pulmonary fibrosis [RCV002509622]|not provided [RCV001819876] |
Chr5:1280217 [GRCh38]
Chr5:1280332 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|likely risk allele |
| NM_198253.3(TERT):c.2490G>T (p.Gly830=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563208] |
Chr5:1268612 [GRCh38]
Chr5:1268727 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.776C>T (p.Pro259Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409450]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553335] |
Chr5:1294110 [GRCh38]
Chr5:1294225 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.820T>A (p.Ser274Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409473]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553844] |
Chr5:1294066 [GRCh38]
Chr5:1294181 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567878] |
Chr5:1293685 [GRCh38]
Chr5:1293800 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1141C>G (p.Arg381Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561213] |
Chr5:1293745 [GRCh38]
Chr5:1293860 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1615G>C (p.Glu539Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103932]|Inborn genetic diseases [RCV003163574] |
Chr5:1282583 [GRCh38]
Chr5:1282698 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2411G>A (p.Gly804Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445216]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551390] |
Chr5:1271176 [GRCh38]
Chr5:1271291 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.559C>A (p.Pro187Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346248]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552480] |
Chr5:1294327 [GRCh38]
Chr5:1294442 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2929G>A (p.Val977Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561168] |
Chr5:1260515 [GRCh38]
Chr5:1260630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.320C>A (p.Ala107Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561242] |
Chr5:1294566 [GRCh38]
Chr5:1294681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.331C>T (p.Pro111Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551396] |
Chr5:1294555 [GRCh38]
Chr5:1294670 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.954C>G (p.Asp318Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551473] |
Chr5:1293932 [GRCh38]
Chr5:1294047 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2374A>G (p.Ile792Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447056]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561154] |
Chr5:1272193 [GRCh38]
Chr5:1272308 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1117C>T (p.Pro373Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553279] |
Chr5:1293769 [GRCh38]
Chr5:1293884 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2332G>A (p.Ala778Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563745] |
Chr5:1272235 [GRCh38]
Chr5:1272350 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.777G>A (p.Pro259=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256723]|Dyskeratosis congenita, autosomal dominant 2 [RCV002568661] |
Chr5:1294109 [GRCh38]
Chr5:1294224 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3362C>G (p.Pro1121Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563230] |
Chr5:1253765 [GRCh38]
Chr5:1253880 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1264G>A (p.Ala422Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447062]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561187] |
Chr5:1293622 [GRCh38]
Chr5:1293737 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.653C>A (p.Ala218Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555894] |
Chr5:1294233 [GRCh38]
Chr5:1294348 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2015G>A (p.Arg672His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553072]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473622] |
Chr5:1279406 [GRCh38]
Chr5:1279521 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1841C>A (p.Pro614His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409474]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553861] |
Chr5:1280267 [GRCh38]
Chr5:1280382 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2282G>A (p.Ser761Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447228]|Dyskeratosis congenita, autosomal dominant 2 [RCV002570372] |
Chr5:1278645 [GRCh38]
Chr5:1278760 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.851C>T (p.Ser284Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447091]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562419] |
Chr5:1294035 [GRCh38]
Chr5:1294150 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.941C>G (p.Pro314Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445292]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103910] |
Chr5:1293945 [GRCh38]
Chr5:1294060 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3349G>T (p.Ala1117Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160448]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553800] |
Chr5:1253778 [GRCh38]
Chr5:1253893 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3181G>A (p.Ala1061Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563141] |
Chr5:1254482 [GRCh38]
Chr5:1254597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.613dup (p.His205fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103908] |
Chr5:1294272..1294273 [GRCh38]
Chr5:1294387..1294388 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.935G>C (p.Arg312Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562372] |
Chr5:1293951 [GRCh38]
Chr5:1294066 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1334C>G (p.Pro445Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564118]|TERT-related condition [RCV003983858] |
Chr5:1293552 [GRCh38]
Chr5:1293667 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555911]|not specified [RCV002249670] |
Chr5:1293927 [GRCh38]
Chr5:1294042 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2387C>T (p.Ser796Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454264]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552100]|not provided [RCV003226996] |
Chr5:1271200 [GRCh38]
Chr5:1271315 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.432G>A (p.Val144=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551461] |
Chr5:1294454 [GRCh38]
Chr5:1294569 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2476G>T (p.Val826Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454288]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551465] |
Chr5:1268626 [GRCh38]
Chr5:1268741 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1381G>T (p.Val461Leu) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027637] |
Chr5:1293505 [GRCh38]
Chr5:1293620 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.696G>T (p.Leu232=) |
single nucleotide variant |
Aplastic anemia [RCV001155588]|Dyskeratosis congenita, autosomal dominant 2 [RCV001155587]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559498]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001155589] |
Chr5:1294190 [GRCh38]
Chr5:1294305 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1543C>A (p.Arg515=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400287]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553226] |
Chr5:1293343 [GRCh38]
Chr5:1293458 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.119A>T (p.Gln40Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552461] |
Chr5:1294871 [GRCh38]
Chr5:1294986 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.459G>A (p.Leu153=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002337089]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551354] |
Chr5:1294427 [GRCh38]
Chr5:1294542 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3001A>G (p.Ile1001Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003163523]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561098] |
Chr5:1258629 [GRCh38]
Chr5:1258744 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1691C>T (p.Thr564Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551372] |
Chr5:1282507 [GRCh38]
Chr5:1282622 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1561C>G (p.Arg521Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103901] |
Chr5:1293325 [GRCh38]
Chr5:1293440 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561096] |
Chr5:1279415 [GRCh38]
Chr5:1279530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3101G>A (p.Arg1034His) |
single nucleotide variant |
Aplastic anemia [RCV001154845]|Dyskeratosis congenita, autosomal dominant 2 [RCV001154846]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559490]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001154847] |
Chr5:1255343 [GRCh38]
Chr5:1255458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1036C>G (p.Leu346Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393259]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553263] |
Chr5:1293850 [GRCh38]
Chr5:1293965 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1553C>T (p.Ala518Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554390] |
Chr5:1293333 [GRCh38]
Chr5:1293448 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.319G>C (p.Ala107Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553802] |
Chr5:1294567 [GRCh38]
Chr5:1294682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2908A>T (p.Met970Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551500] |
Chr5:1260536 [GRCh38]
Chr5:1260651 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2084T>A (p.Leu695Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002568639] |
Chr5:1279337 [GRCh38]
Chr5:1279452 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1943A>T (p.Glu648Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551391] |
Chr5:1280165 [GRCh38]
Chr5:1280280 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2219G>A (p.Cys740Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561762] |
Chr5:1278708 [GRCh38]
Chr5:1278823 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1169G>A (p.Arg390Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563237] |
Chr5:1293717 [GRCh38]
Chr5:1293832 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1103C>T (p.Ser368Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563206] |
Chr5:1293783 [GRCh38]
Chr5:1293898 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3157+3A>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002256674]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555817] |
Chr5:1255284 [GRCh38]
Chr5:1255399 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.802C>T (p.Arg268Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563792] |
Chr5:1294084 [GRCh38]
Chr5:1294199 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.271C>T (p.Arg91Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555819] |
Chr5:1294615 [GRCh38]
Chr5:1294730 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2995A>G (p.Thr999Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561775] |
Chr5:1258635 [GRCh38]
Chr5:1258750 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1339C>T (p.Arg447Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552511]|Dyskeratosis congenita, autosomal dominant 2 [RCV003467728] |
Chr5:1293547 [GRCh38]
Chr5:1293662 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1123A>G (p.Thr375Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103916] |
Chr5:1293763 [GRCh38]
Chr5:1293878 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2266C>T (p.Arg756Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563777] |
Chr5:1278661 [GRCh38]
Chr5:1278776 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.363C>G (p.Ser121Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553187] |
Chr5:1294523 [GRCh38]
Chr5:1294638 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1044C>G (p.Ser348Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551419] |
Chr5:1293842 [GRCh38]
Chr5:1293957 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.794C>G (p.Pro265Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551433] |
Chr5:1294092 [GRCh38]
Chr5:1294207 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+1G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552073] |
Chr5:1272184 [GRCh38]
Chr5:1272299 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2750C>T (p.Thr917Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553948] |
Chr5:1264497 [GRCh38]
Chr5:1264612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.285C>A (p.Asn95Lys) |
single nucleotide variant |
Interstitial lung disease 2 [RCV001202700] |
Chr5:1294601 [GRCh38]
Chr5:1294716 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2914C>T (p.Arg972Cys) |
single nucleotide variant |
Microcephaly [RCV001252776] |
Chr5:1260530 [GRCh38]
Chr5:1260645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 |
copy number gain |
not provided [RCV001258845] |
Chr5:499883..1309062 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 |
copy number loss |
not provided [RCV001258846] |
Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:875401-1310234)x3 |
copy number gain |
not provided [RCV001258848] |
Chr5:875401..1310234 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 |
copy number loss |
not provided [RCV001258849] |
Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1285G>T (p.Glu429Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001267801] |
Chr5:1293601 [GRCh38]
Chr5:1293716 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:26141-2537457)x3 |
copy number gain |
Global developmental delay [RCV002284255] |
Chr5:26141..2537457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.672C>G (p.Arg224=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002375315]|Dyskeratosis congenita, autosomal dominant 2 [RCV002570619] |
Chr5:1294214 [GRCh38]
Chr5:1294329 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.628G>A (p.Ala210Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002357171]|Dyskeratosis congenita, autosomal dominant 2 [RCV001334734]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546696]|TERT-related condition [RCV003405561] |
Chr5:1294258 [GRCh38]
Chr5:1294373 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.427C>T (p.Arg143Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539517] |
Chr5:1294459 [GRCh38]
Chr5:1294574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-342A>G |
single nucleotide variant |
not provided [RCV001538342] |
Chr5:1271546 [GRCh38]
Chr5:1271661 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2286+172G>A |
single nucleotide variant |
not provided [RCV001536370] |
Chr5:1278469 [GRCh38]
Chr5:1278584 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451631]|Dyskeratosis congenita, autosomal dominant 2 [RCV002541635]|not provided [RCV001268086] |
Chr5:1266525 [GRCh38]
Chr5:1266640 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.2844-246G>A |
single nucleotide variant |
not provided [RCV001548605] |
Chr5:1260846 [GRCh38]
Chr5:1260961 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2210A>G (p.Asn737Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104028] |
Chr5:1278717 [GRCh38]
Chr5:1278832 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1565G>A (p.Arg522Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001267799]|Dyskeratosis congenita, autosomal dominant 2 [RCV002570420] |
Chr5:1293321 [GRCh38]
Chr5:1293436 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV001267800]|Dyskeratosis congenita, autosomal dominant 2 [RCV002568705]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003229617] |
Chr5:1271168 [GRCh38]
Chr5:1271283 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1216G>A (p.Gly406Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002357058]|Dyskeratosis congenita, autosomal dominant 2 [RCV001267802] |
Chr5:1293670 [GRCh38]
Chr5:1293785 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 |
copy number loss |
See cases [RCV002285039] |
Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.1855T>A (p.Ser619Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003106206] |
Chr5:1280253 [GRCh38]
Chr5:1280368 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.987G>C (p.Lys329Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543054] |
Chr5:1293899 [GRCh38]
Chr5:1294014 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-10T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103937] |
Chr5:1260610 [GRCh38]
Chr5:1260725 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2951G>A (p.Ser984Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545009] |
Chr5:1260493 [GRCh38]
Chr5:1260608 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2764A>T (p.Met922Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002437021]|Dyskeratosis congenita, autosomal dominant 2 [RCV002539471] |
Chr5:1264483 [GRCh38]
Chr5:1264598 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1607T>A (p.Leu536Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543790] |
Chr5:1282591 [GRCh38]
Chr5:1282706 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2578G>A (p.Asp860Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539474] |
Chr5:1268524 [GRCh38]
Chr5:1268639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.77C>A (p.Thr26Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547514] |
Chr5:1294913 [GRCh38]
Chr5:1295028 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1192G>C (p.Gly398Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543769] |
Chr5:1293694 [GRCh38]
Chr5:1293809 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1144C>G (p.Leu382Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456396]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104024] |
Chr5:1293742 [GRCh38]
Chr5:1293857 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1483A>C (p.Ile495Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002395678]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543728] |
Chr5:1293403 [GRCh38]
Chr5:1293518 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2860A>G (p.Ile954Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104034] |
Chr5:1260584 [GRCh38]
Chr5:1260699 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2090T>C (p.Val697Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546972] |
Chr5:1279331 [GRCh38]
Chr5:1279446 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844C>G (p.Ser948Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543155] |
Chr5:1260600 [GRCh38]
Chr5:1260715 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.538G>A (p.Ala180Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104037] |
Chr5:1294348 [GRCh38]
Chr5:1294463 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.728C>T (p.Ala243Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543700] |
Chr5:1294158 [GRCh38]
Chr5:1294273 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1987A>G (p.Ser663Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543507] |
Chr5:1279434 [GRCh38]
Chr5:1279549 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-6T>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103945] |
Chr5:1271210 [GRCh38]
Chr5:1271325 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2294C>T (p.Thr765Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546946] |
Chr5:1272273 [GRCh38]
Chr5:1272388 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.112C>A (p.Leu38Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547522] |
Chr5:1294878 [GRCh38]
Chr5:1294993 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1834G>A (p.Ala612Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169614]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546893] |
Chr5:1280274 [GRCh38]
Chr5:1280389 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1278T>G (p.Cys426Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546136] |
Chr5:1293608 [GRCh38]
Chr5:1293723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1297488_?)dup |
duplication |
Interstitial lung disease 2 [RCV001296967] |
Chr5:1253843..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.689G>A (p.Arg230Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169532]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546187] |
Chr5:1294197 [GRCh38]
Chr5:1294312 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 |
copy number loss |
See cases [RCV001310287] |
Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.608G>C (p.Trp203Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547394] |
Chr5:1294278 [GRCh38]
Chr5:1294393 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.788G>A (p.Arg263His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546890] |
Chr5:1294098 [GRCh38]
Chr5:1294213 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1873C>A (p.Pro625Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546960] |
Chr5:1280235 [GRCh38]
Chr5:1280350 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1332C>A (p.Asp444Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379992]|Dyskeratosis congenita, autosomal dominant 2 [RCV002538469] |
Chr5:1293554 [GRCh38]
Chr5:1293669 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.685A>C (p.Ser229Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548479] |
Chr5:1294201 [GRCh38]
Chr5:1294316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+6G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547417] |
Chr5:1293307 [GRCh38]
Chr5:1293422 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2758G>A (p.Val920Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543076] |
Chr5:1264489 [GRCh38]
Chr5:1264604 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2612T>G (p.Leu871Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003106205] |
Chr5:1266506 [GRCh38]
Chr5:1266621 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2417T>C (p.Phe806Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545623] |
Chr5:1271170 [GRCh38]
Chr5:1271285 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.280A>C (p.Lys94Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539556] |
Chr5:1294606 [GRCh38]
Chr5:1294721 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+6G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547422] |
Chr5:1272179 [GRCh38]
Chr5:1272294 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1541T>G (p.Val514Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545052] |
Chr5:1293345 [GRCh38]
Chr5:1293460 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1278746)_(1297488_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103938] |
Chr5:1278746..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2452G>A (p.Val818Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451658]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543051] |
Chr5:1271135 [GRCh38]
Chr5:1271250 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2897C>T (p.Ala966Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438778]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546913] |
Chr5:1260547 [GRCh38]
Chr5:1260662 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.761G>C (p.Gly254Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546186] |
Chr5:1294125 [GRCh38]
Chr5:1294240 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1583G>A (p.Cys528Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541839] |
Chr5:1282615 [GRCh38]
Chr5:1282730 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.5C>T (p.Pro2Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538480] |
Chr5:1294985 [GRCh38]
Chr5:1295100 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1007G>A (p.Gly336Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543168] |
Chr5:1293879 [GRCh38]
Chr5:1293994 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3033-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551588] |
Chr5:1255416 [GRCh38]
Chr5:1255531 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1047T>C (p.Ser349=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104079] |
Chr5:1293839 [GRCh38]
Chr5:1293954 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1998C>T (p.Asn666=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420946]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555110] |
Chr5:1279423 [GRCh38]
Chr5:1279538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1308G>A (p.Ala436=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384498]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547706] |
Chr5:1293578 [GRCh38]
Chr5:1293693 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1164A>G (p.Gln388=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322320]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547767] |
Chr5:1293722 [GRCh38]
Chr5:1293837 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.811T>C (p.Cys271Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548545] |
Chr5:1294075 [GRCh38]
Chr5:1294190 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.758A>G (p.Gln253Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103982] |
Chr5:1294128 [GRCh38]
Chr5:1294243 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.857A>C (p.Glu286Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547863] |
Chr5:1294029 [GRCh38]
Chr5:1294144 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1775A>T (p.His592Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547883] |
Chr5:1280333 [GRCh38]
Chr5:1280448 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1872C>T (p.Ile624=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554050] |
Chr5:1280236 [GRCh38]
Chr5:1280351 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.414G>T (p.Gly138=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329481]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555532] |
Chr5:1294472 [GRCh38]
Chr5:1294587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1168C>T (p.Arg390Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548562] |
Chr5:1293718 [GRCh38]
Chr5:1293833 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1336C>T (p.Arg446Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550049] |
Chr5:1293550 [GRCh38]
Chr5:1293665 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1736G>T (p.Ser579Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169860]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550065] |
Chr5:1282462 [GRCh38]
Chr5:1282577 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2511C>A (p.Leu837=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432204]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555179] |
Chr5:1268591 [GRCh38]
Chr5:1268706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+6C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538465] |
Chr5:1294765 [GRCh38]
Chr5:1294880 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.965C>T (p.Pro322Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384379]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543194] |
Chr5:1293921 [GRCh38]
Chr5:1294036 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3113A>C (p.Asp1038Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546220] |
Chr5:1255331 [GRCh38]
Chr5:1255446 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.972G>A (p.Val324=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377593]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551618] |
Chr5:1293914 [GRCh38]
Chr5:1294029 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.834C>G (p.Pro278=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439012]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555183] |
Chr5:1294052 [GRCh38]
Chr5:1294167 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1152G>C (p.Gln384His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543211] |
Chr5:1293734 [GRCh38]
Chr5:1293849 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3120C>T (p.Ala1040=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554047] |
Chr5:1255324 [GRCh38]
Chr5:1255439 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.723C>T (p.Gly241=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555109] |
Chr5:1294163 [GRCh38]
Chr5:1294278 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.362G>A (p.Ser121Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456530]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547527] |
Chr5:1294524 [GRCh38]
Chr5:1294639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-8del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552689] |
Chr5:1254513 [GRCh38]
Chr5:1254628 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.198dup (p.Ala67fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551534] |
Chr5:1294791..1294792 [GRCh38]
Chr5:1294906..1294907 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2912G>A (p.Arg971His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543591]|Dyskeratosis congenita, autosomal dominant 2 [RCV003447587]|Pulmonary fibrosis [RCV002509657]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002327692] |
Chr5:1260532 [GRCh38]
Chr5:1260647 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1257C>T (p.Val419=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104095] |
Chr5:1293629 [GRCh38]
Chr5:1293744 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.456G>C (p.Leu152=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256771]|Dyskeratosis congenita [RCV002341915]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555511] |
Chr5:1294430 [GRCh38]
Chr5:1294545 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2286+6G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546815] |
Chr5:1278635 [GRCh38]
Chr5:1278750 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552695] |
Chr5:1264597 [GRCh38]
Chr5:1264712 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3184G>T (p.Ala1062Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543692] |
Chr5:1254479 [GRCh38]
Chr5:1254594 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.743G>A (p.Arg248Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545017] |
Chr5:1294143 [GRCh38]
Chr5:1294258 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.365A>G (p.Tyr122Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543828] |
Chr5:1294521 [GRCh38]
Chr5:1294636 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+6C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543844] |
Chr5:1264398 [GRCh38]
Chr5:1264513 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.670C>G (p.Arg224Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104049]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473871] |
Chr5:1294216 [GRCh38]
Chr5:1294331 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3134C>G (p.Ser1045Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166894]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545135] |
Chr5:1255310 [GRCh38]
Chr5:1255425 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2971-3T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545072] |
Chr5:1258662 [GRCh38]
Chr5:1258777 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2725G>A (p.Val909Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166761]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543242] |
Chr5:1264522 [GRCh38]
Chr5:1264637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1219G>C (p.Val407Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002539477] |
Chr5:1293667 [GRCh38]
Chr5:1293782 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1131C>T (p.Arg377=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543169] |
Chr5:1293755 [GRCh38]
Chr5:1293870 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.155C>T (p.Ala52Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543528] |
Chr5:1294835 [GRCh38]
Chr5:1294950 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3025G>T (p.Ala1009Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543529] |
Chr5:1258605 [GRCh38]
Chr5:1258720 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253833)_(1253956_?)dup |
duplication |
Idiopathic Pulmonary Fibrosis [RCV001320327] |
Chr5:1253833..1253956 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-47_2659dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104045]|Dyskeratosis congenita, autosomal dominant 2 [RCV003336377]|TERT-related condition [RCV003416241] |
Chr5:1264587..1264588 [GRCh38]
Chr5:1264702..1264703 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2495C>T (p.Pro832Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543619]|not provided [RCV003319463] |
Chr5:1268607 [GRCh38]
Chr5:1268722 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2363A>G (p.Asp788Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547550] |
Chr5:1272204 [GRCh38]
Chr5:1272319 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.889C>A (p.Pro297Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546920] |
Chr5:1293997 [GRCh38]
Chr5:1294112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3033G>A (p.Arg1011=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438805]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547070] |
Chr5:1255411 [GRCh38]
Chr5:1255526 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.221T>A (p.Val74Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431931]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546201]|Dyskeratosis congenita, autosomal dominant 2 [RCV003473862] |
Chr5:1294665 [GRCh38]
Chr5:1294780 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.5C>G (p.Pro2Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103958] |
Chr5:1294985 [GRCh38]
Chr5:1295100 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1255G>T (p.Val419Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002412029]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103959] |
Chr5:1293631 [GRCh38]
Chr5:1293746 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2783T>G (p.Phe928Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546927] |
Chr5:1264464 [GRCh38]
Chr5:1264579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.932C>T (p.Ser311Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169622]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547407] |
Chr5:1293954 [GRCh38]
Chr5:1294069 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.548A>G (p.Gln183Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541936] |
Chr5:1294338 [GRCh38]
Chr5:1294453 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1280463_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104038] |
Chr5:1253843..1280463 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.812G>C (p.Cys271Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103970] |
Chr5:1294074 [GRCh38]
Chr5:1294189 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1364A>T (p.His455Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546931]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002329318] |
Chr5:1293522 [GRCh38]
Chr5:1293637 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.-57del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547032] |
Chr5:1295046 [GRCh38]
Chr5:1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2207A>G (p.Gln736Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547087] |
Chr5:1278720 [GRCh38]
Chr5:1278835 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2211C>A (p.Asn737Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546934] |
Chr5:1278716 [GRCh38]
Chr5:1278831 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2444A>G (p.His815Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546980] |
Chr5:1271143 [GRCh38]
Chr5:1271258 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.662C>T (p.Ala221Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546113] |
Chr5:1294224 [GRCh38]
Chr5:1294339 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1828C>G (p.Arg610Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548537] |
Chr5:1280280 [GRCh38]
Chr5:1280395 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2401G>A (p.Ala801Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548564] |
Chr5:1271186 [GRCh38]
Chr5:1271301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1716G>T (p.Arg572Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547846] |
Chr5:1282482 [GRCh38]
Chr5:1282597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.990C>A (p.His330Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547864] |
Chr5:1293896 [GRCh38]
Chr5:1294011 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456571]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548597]|Pulmonary fibrosis [RCV002509674]|TERT-related condition [RCV003394008]|not provided [RCV002245979] |
Chr5:1272190 [GRCh38]
Chr5:1272305 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.590T>G (p.Leu197Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546161] |
Chr5:1294296 [GRCh38]
Chr5:1294411 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2642A>T (p.Lys881Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538440] |
Chr5:1266476 [GRCh38]
Chr5:1266591 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3140T>C (p.Leu1047Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543649] |
Chr5:1255304 [GRCh38]
Chr5:1255419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.634G>A (p.Val212Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103936] |
Chr5:1294252 [GRCh38]
Chr5:1294367 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-3777_1574-3776delinsTC |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552668] |
Chr5:1286400..1286401 [GRCh38]
Chr5:1286515..1286516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.37C>T (p.Leu13=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552682] |
Chr5:1294953 [GRCh38]
Chr5:1295068 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3115A>C (p.Thr1039Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546907] |
Chr5:1255329 [GRCh38]
Chr5:1255444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.905A>G (p.Gln302Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002375413]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543755] |
Chr5:1293981 [GRCh38]
Chr5:1294096 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1258784_?)dup |
duplication |
Interstitial lung disease 2 [RCV001325925] |
Chr5:1253843..1258784 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3342C>T (p.Ala1114=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322377]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552670] |
Chr5:1253785 [GRCh38]
Chr5:1253900 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+4G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543198]|TERT-related condition [RCV003938611] |
Chr5:1279287 [GRCh38]
Chr5:1279402 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3158-6C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548632] |
Chr5:1254511 [GRCh38]
Chr5:1254626 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1852A>G (p.Thr618Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413894]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550144] |
Chr5:1280256 [GRCh38]
Chr5:1280371 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2172G>C (p.Arg724Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003106207] |
Chr5:1278755 [GRCh38]
Chr5:1278870 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2750C>A (p.Thr917Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002538491] |
Chr5:1264497 [GRCh38]
Chr5:1264612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.278C>T (p.Ala93Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003166811]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543686] |
Chr5:1294608 [GRCh38]
Chr5:1294723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.889C>T (p.Pro297Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169621]|Dyskeratosis congenita, autosomal dominant 2 [RCV002546928] |
Chr5:1293997 [GRCh38]
Chr5:1294112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.315C>T (p.Asp105=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322414]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554038]|not provided [RCV003433143] |
Chr5:1294571 [GRCh38]
Chr5:1294686 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2530C>T (p.Leu844=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432142]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554039] |
Chr5:1268572 [GRCh38]
Chr5:1268687 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550227]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV001376142] |
Chr5:1258604 [GRCh38]
Chr5:1258719 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1719C>G (p.Leu573=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002404917]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552678]|not specified [RCV001820094] |
Chr5:1282479 [GRCh38]
Chr5:1282594 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1173C>T (p.Pro391=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329418]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552680] |
Chr5:1293713 [GRCh38]
Chr5:1293828 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1420C>T (p.Pro474Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002546863] |
Chr5:1293466 [GRCh38]
Chr5:1293581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1787T>G (p.Val596Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545600] |
Chr5:1280321 [GRCh38]
Chr5:1280436 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.264G>A (p.Leu88=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104094] |
Chr5:1294622 [GRCh38]
Chr5:1294737 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2789G>T (p.Trp930Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543720] |
Chr5:1264458 [GRCh38]
Chr5:1264573 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2106G>T (p.Pro702=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554043] |
Chr5:1279315 [GRCh38]
Chr5:1279430 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3074T>C (p.Val1025Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003103949] |
Chr5:1255370 [GRCh38]
Chr5:1255485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.172G>C (p.Val58Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169730]|Dyskeratosis congenita, autosomal dominant 2 [RCV002547499] |
Chr5:1294818 [GRCh38]
Chr5:1294933 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.358C>T (p.Arg120Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002541827] |
Chr5:1294528 [GRCh38]
Chr5:1294643 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.22C>A (p.Arg8=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447308]|Dyskeratosis congenita, autosomal dominant 2 [RCV002543122] |
Chr5:1294968 [GRCh38]
Chr5:1295083 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.606C>G (p.Ala202=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551617] |
Chr5:1294280 [GRCh38]
Chr5:1294395 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1424del (p.Pro475fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551552] |
Chr5:1293462 [GRCh38]
Chr5:1293577 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.414G>A (p.Gly138=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329477]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555162] |
Chr5:1294472 [GRCh38]
Chr5:1294587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.630C>T (p.Ala210=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551611] |
Chr5:1294256 [GRCh38]
Chr5:1294371 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.273C>T (p.Arg91=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563339] |
Chr5:1294613 [GRCh38]
Chr5:1294728 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-8G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564166] |
Chr5:1258667 [GRCh38]
Chr5:1258782 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2280G>A (p.Lys760=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563280] |
Chr5:1278647 [GRCh38]
Chr5:1278762 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.198C>T (p.Pro66=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421036]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560349]|not provided [RCV003434246] |
Chr5:1294792 [GRCh38]
Chr5:1294907 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.978C>G (p.Ala326=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384835]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563327] |
Chr5:1293908 [GRCh38]
Chr5:1294023 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3285A>C (p.Ser1095=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553413] |
Chr5:1254378 [GRCh38]
Chr5:1254493 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.750C>T (p.Pro250=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396138]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562651]|not provided [RCV003434264] |
Chr5:1294136 [GRCh38]
Chr5:1294251 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-10del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562690] |
Chr5:1260610 [GRCh38]
Chr5:1260725 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1200C>T (p.His400=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350996]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562692] |
Chr5:1293686 [GRCh38]
Chr5:1293801 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3057C>G (p.Leu1019=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449259]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561967] |
Chr5:1255387 [GRCh38]
Chr5:1255502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2574G>A (p.Arg858=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104117] |
Chr5:1268528 [GRCh38]
Chr5:1268643 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-5G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564169] |
Chr5:1279475 [GRCh38]
Chr5:1279590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3102C>T (p.Arg1034=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561988] |
Chr5:1255342 [GRCh38]
Chr5:1255457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2661G>T (p.Leu887=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432292]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560368] |
Chr5:1264586 [GRCh38]
Chr5:1264701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.688C>A (p.Arg230=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160745]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555537]|not specified [RCV001820127] |
Chr5:1294198 [GRCh38]
Chr5:1294313 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.579C>A (p.Pro193=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160998]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563307] |
Chr5:1294307 [GRCh38]
Chr5:1294422 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.864G>T (p.Ala288=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104138] |
Chr5:1294022 [GRCh38]
Chr5:1294137 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.210C>T (p.Ser70=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554072]|TERT-related condition [RCV003973259] |
Chr5:1294780 [GRCh38]
Chr5:1294895 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3048G>A (p.Val1016=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449236]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560370]|not specified [RCV001820156] |
Chr5:1255396 [GRCh38]
Chr5:1255511 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1089C>A (p.Thr363=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002424933]|Dyskeratosis congenita, autosomal dominant 2 [RCV002567960] |
Chr5:1293797 [GRCh38]
Chr5:1293912 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.891A>G (p.Pro297=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377809]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561978] |
Chr5:1293995 [GRCh38]
Chr5:1294110 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2163C>T (p.Pro721=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432330]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562639] |
Chr5:1278764 [GRCh38]
Chr5:1278879 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1140C>T (p.Pro380=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456879]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563283] |
Chr5:1293746 [GRCh38]
Chr5:1293861 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+225G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002515604]|not provided [RCV001668374] |
Chr5:1282204 [GRCh38]
Chr5:1282319 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.579C>T (p.Pro193=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002359065]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561980] |
Chr5:1294307 [GRCh38]
Chr5:1294422 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.192G>C (p.Pro64=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414190]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563284] |
Chr5:1294798 [GRCh38]
Chr5:1294913 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2082G>C (p.Val694=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561984] |
Chr5:1279339 [GRCh38]
Chr5:1279454 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1128C>G (p.Pro376=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557562] |
Chr5:1293758 [GRCh38]
Chr5:1293873 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.306G>C (p.Ala102=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449183]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104102] |
Chr5:1294580 [GRCh38]
Chr5:1294695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1932G>C (p.Thr644=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414150]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104123] |
Chr5:1280176 [GRCh38]
Chr5:1280291 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2685C>T (p.Gly895=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553387] |
Chr5:1264562 [GRCh38]
Chr5:1264677 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2826G>A (p.Val942=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564139] |
Chr5:1264421 [GRCh38]
Chr5:1264536 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1032C>G (p.Ser344=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160905]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561308] |
Chr5:1293854 [GRCh38]
Chr5:1293969 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.615T>C (p.His205=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002358984]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555569] |
Chr5:1294271 [GRCh38]
Chr5:1294386 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2343G>A (p.Gln781=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562667] |
Chr5:1272224 [GRCh38]
Chr5:1272339 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1782G>A (p.Lys594=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563286] |
Chr5:1280326 [GRCh38]
Chr5:1280441 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.114G>T (p.Leu38=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564140] |
Chr5:1294876 [GRCh38]
Chr5:1294991 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1713C>T (p.Asn571=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002405177]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563320]|not provided [RCV003434290] |
Chr5:1282485 [GRCh38]
Chr5:1282600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.10:g.1297373C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002515605] |
Chr5:1297373 [GRCh38]
Chr5:1297488 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1776C>T (p.His592=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553426] |
Chr5:1280332 [GRCh38]
Chr5:1280447 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-8C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561960] |
Chr5:1268641 [GRCh38]
Chr5:1268756 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-10T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557543] |
Chr5:1260610 [GRCh38]
Chr5:1260725 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.801C>T (p.Asp267=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564161] |
Chr5:1294085 [GRCh38]
Chr5:1294200 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2211C>T (p.Asn737=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432360]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563263] |
Chr5:1278716 [GRCh38]
Chr5:1278831 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.561G>A (p.Pro187=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350999]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562697] |
Chr5:1294325 [GRCh38]
Chr5:1294440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551604] |
Chr5:1268503 [GRCh38]
Chr5:1268618 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.471G>T (p.Ala157=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002341903]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555098] |
Chr5:1294415 [GRCh38]
Chr5:1294530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2724T>G (p.Pro908=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456634]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553391] |
Chr5:1264523 [GRCh38]
Chr5:1264638 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.421C>T (p.Leu141=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329618]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563312] |
Chr5:1294465 [GRCh38]
Chr5:1294580 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.435C>G (p.Gly145=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329557]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561301] |
Chr5:1294451 [GRCh38]
Chr5:1294566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.501C>T (p.Ala167=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002334525]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563277] |
Chr5:1294385 [GRCh38]
Chr5:1294500 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.402C>T (p.Ser134=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561256] |
Chr5:1294484 [GRCh38]
Chr5:1294599 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2661G>A (p.Leu887=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555575] |
Chr5:1264586 [GRCh38]
Chr5:1264701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.369G>T (p.Leu123=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554065] |
Chr5:1294517 [GRCh38]
Chr5:1294632 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.738G>T (p.Pro246=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384667]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555563] |
Chr5:1294148 [GRCh38]
Chr5:1294263 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.294C>G (p.Ala98=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438932]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553409] |
Chr5:1294592 [GRCh38]
Chr5:1294707 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.867C>G (p.Leu289=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377738]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559327] |
Chr5:1294019 [GRCh38]
Chr5:1294134 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2772C>G (p.Ala924=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439053]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559328] |
Chr5:1264475 [GRCh38]
Chr5:1264590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1620C>A (p.Ile540=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553395] |
Chr5:1282578 [GRCh38]
Chr5:1282693 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2559G>A (p.Leu853=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456758]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557510] |
Chr5:1268543 [GRCh38]
Chr5:1268658 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2796C>G (p.Gly932=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560325] |
Chr5:1264451 [GRCh38]
Chr5:1264566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.918C>T (p.Gly306=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377689]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555161] |
Chr5:1293968 [GRCh38]
Chr5:1294083 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2034C>G (p.Ala678=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420963]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555519] |
Chr5:1279387 [GRCh38]
Chr5:1279502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.327G>T (p.Gly109=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449118]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554031] |
Chr5:1294559 [GRCh38]
Chr5:1294674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2659C>T (p.Leu887=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432182]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104097] |
Chr5:1264588 [GRCh38]
Chr5:1264703 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.333C>T (p.Pro111=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553412] |
Chr5:1294553 [GRCh38]
Chr5:1294668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1260C>A (p.Thr420=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439054]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559330] |
Chr5:1293626 [GRCh38]
Chr5:1293741 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2005C>A (p.Arg669=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420872]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552659] |
Chr5:1279416 [GRCh38]
Chr5:1279531 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.504C>T (p.Tyr168=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104101] |
Chr5:1294382 [GRCh38]
Chr5:1294497 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1032C>T (p.Ser344=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002395991]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104099] |
Chr5:1293854 [GRCh38]
Chr5:1293969 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2628C>T (p.His876=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439009]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555178] |
Chr5:1266490 [GRCh38]
Chr5:1266605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.525G>A (p.Leu175=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002341891]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554028] |
Chr5:1294361 [GRCh38]
Chr5:1294476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3030C>T (p.Tyr1010=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553987] |
Chr5:1258600 [GRCh38]
Chr5:1258715 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.238C>T (p.Leu80=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554007] |
Chr5:1294648 [GRCh38]
Chr5:1294763 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-5C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555513] |
Chr5:1278801 [GRCh38]
Chr5:1278916 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+9C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552719]|TERT-related condition [RCV003953722] |
Chr5:1258589 [GRCh38]
Chr5:1258704 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.40C>T (p.Leu14=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554009] |
Chr5:1294950 [GRCh38]
Chr5:1295065 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.966C>G (p.Pro322=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384654]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555187] |
Chr5:1293920 [GRCh38]
Chr5:1294035 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1633C>T (p.Leu545=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555198] |
Chr5:1282565 [GRCh38]
Chr5:1282680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.9:g.(?_1253843)_(1297488_?)del |
deletion |
Interstitial lung disease 2 [RCV001387492] |
Chr5:1253843..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1951-9_1951-8delinsGT |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560319] |
Chr5:1279478..1279479 [GRCh38]
Chr5:1279593..1279594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1686T>C (p.Tyr562=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160727]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555168] |
Chr5:1282512 [GRCh38]
Chr5:1282627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.264G>T (p.Leu88=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555582] |
Chr5:1294622 [GRCh38]
Chr5:1294737 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553434] |
Chr5:1294762 [GRCh38]
Chr5:1294877 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.81C>T (p.Phe27=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104111] |
Chr5:1294909 [GRCh38]
Chr5:1295024 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3138C>T (p.Ile1046=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160792]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559318]|TERT-related condition [RCV003973301] |
Chr5:1255306 [GRCh38]
Chr5:1255421 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2127C>A (p.Val709=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555536] |
Chr5:1279294 [GRCh38]
Chr5:1279409 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.780C>A (p.Gly260=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414042]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555545]|not provided [RCV003433169] |
Chr5:1294106 [GRCh38]
Chr5:1294221 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3276C>T (p.Leu1092=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322411]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554012] |
Chr5:1254387 [GRCh38]
Chr5:1254502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.447G>C (p.Leu149=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553423] |
Chr5:1294439 [GRCh38]
Chr5:1294554 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.465C>T (p.Arg155=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104090] |
Chr5:1294421 [GRCh38]
Chr5:1294536 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.561G>C (p.Pro187=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350874]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555587] |
Chr5:1294325 [GRCh38]
Chr5:1294440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2505C>G (p.Ser835=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555589] |
Chr5:1268597 [GRCh38]
Chr5:1268712 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2379G>A (p.Glu793=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456711]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555169] |
Chr5:1272188 [GRCh38]
Chr5:1272303 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3016C>T (p.Leu1006=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553435] |
Chr5:1258614 [GRCh38]
Chr5:1258729 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553991] |
Chr5:1294675 [GRCh38]
Chr5:1294790 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.540T>C (p.Ala180=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350833]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555133] |
Chr5:1294346 [GRCh38]
Chr5:1294461 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.696G>A (p.Leu232=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170046]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554015]|not specified [RCV001820107] |
Chr5:1294190 [GRCh38]
Chr5:1294305 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2259G>A (p.Gly753=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170048]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104091] |
Chr5:1278668 [GRCh38]
Chr5:1278783 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.285C>T (p.Asn95=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170049]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104092] |
Chr5:1294601 [GRCh38]
Chr5:1294716 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1761T>C (p.Ile587=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413948]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552735] |
Chr5:1282437 [GRCh38]
Chr5:1282552 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1048C>T (p.Leu350=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553427] |
Chr5:1293838 [GRCh38]
Chr5:1293953 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.147G>A (p.Ala49=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396030]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559323] |
Chr5:1294843 [GRCh38]
Chr5:1294958 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+350G>A |
single nucleotide variant |
not provided [RCV001534997] |
Chr5:1282079 [GRCh38]
Chr5:1282194 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.85C>A (p.Arg29=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555572] |
Chr5:1294905 [GRCh38]
Chr5:1295020 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.930A>T (p.Thr310=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377735]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559326] |
Chr5:1293956 [GRCh38]
Chr5:1294071 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.186A>G (p.Ala62=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553407] |
Chr5:1294804 [GRCh38]
Chr5:1294919 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2289C>A (p.Val763=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160784]|Dyskeratosis congenita, autosomal dominant 2 [RCV002559303] |
Chr5:1272278 [GRCh38]
Chr5:1272393 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555174] |
Chr5:1279271 [GRCh38]
Chr5:1279386 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.558C>T (p.Pro186=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002350758]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552709] |
Chr5:1294328 [GRCh38]
Chr5:1294443 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3235del (p.Leu1079fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551568] |
Chr5:1254428 [GRCh38]
Chr5:1254543 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3042A>C (p.Ala1014=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449114]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553995] |
Chr5:1255402 [GRCh38]
Chr5:1255517 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+251G>C |
single nucleotide variant |
not provided [RCV001527802] |
Chr5:1270868 [GRCh38]
Chr5:1270983 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1254G>A (p.Ala418=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421053]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561273] |
Chr5:1293632 [GRCh38]
Chr5:1293747 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 |
copy number loss |
not provided [RCV001537929] |
Chr5:13200..4012072 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.132G>A (p.Pro44=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561929] |
Chr5:1294858 [GRCh38]
Chr5:1294973 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+325dup |
duplication |
not provided [RCV001673482] |
Chr5:1282094..1282095 [GRCh38]
Chr5:1282209..1282210 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2493C>T (p.Ile831=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432378]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562730] |
Chr5:1268609 [GRCh38]
Chr5:1268724 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1794G>A (p.Leu598=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564155] |
Chr5:1280314 [GRCh38]
Chr5:1280429 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-22_2844-4dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560371] |
Chr5:1260603..1260604 [GRCh38]
Chr5:1260718..1260719 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1779G>A (p.Leu593=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563325] |
Chr5:1280329 [GRCh38]
Chr5:1280444 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.171C>T (p.Cys57=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563326] |
Chr5:1294819 [GRCh38]
Chr5:1294934 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1431C>T (p.Leu477=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388550]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563341] |
Chr5:1293455 [GRCh38]
Chr5:1293570 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3051G>C (p.Leu1017=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563342] |
Chr5:1255393 [GRCh38]
Chr5:1255508 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2160C>A (p.Ile720=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567955] |
Chr5:1278767 [GRCh38]
Chr5:1278882 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3295+32A>G |
single nucleotide variant |
not provided [RCV001619320] |
Chr5:1254336 [GRCh38]
Chr5:1254451 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2658C>T (p.Thr886=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002456836]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562658] |
Chr5:1264589 [GRCh38]
Chr5:1264704 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.330C>T (p.Gly110=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322508]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560375] |
Chr5:1294556 [GRCh38]
Chr5:1294671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1443G>A (p.Arg481=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561259]|not provided [RCV003438807] |
Chr5:1293443 [GRCh38]
Chr5:1293558 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+182A>C |
single nucleotide variant |
not provided [RCV001538433] |
Chr5:1279109 [GRCh38]
Chr5:1279224 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.174G>A (p.Val58=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564157] |
Chr5:1294816 [GRCh38]
Chr5:1294931 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.561G>T (p.Pro187=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002343682]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563328] |
Chr5:1294325 [GRCh38]
Chr5:1294440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1602C>T (p.His534=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562665] |
Chr5:1282596 [GRCh38]
Chr5:1282711 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1233G>T (p.Thr411=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002377759]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561254] |
Chr5:1293653 [GRCh38]
Chr5:1293768 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.354C>T (p.Ser118=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561993] |
Chr5:1294532 [GRCh38]
Chr5:1294647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1714A>C (p.Arg572=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160880]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561937] |
Chr5:1282484 [GRCh38]
Chr5:1282599 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.156C>T (p.Ala52=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561282] |
Chr5:1294834 [GRCh38]
Chr5:1294949 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2241C>T (p.Val747=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432308]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561283] |
Chr5:1278686 [GRCh38]
Chr5:1278801 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2382+17G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560360] |
Chr5:1272168 [GRCh38]
Chr5:1272283 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.336C>G (p.Pro112=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160884]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561267] |
Chr5:1294550 [GRCh38]
Chr5:1294665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3252A>T (p.Arg1084=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324075]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562694] |
Chr5:1254411 [GRCh38]
Chr5:1254526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2584C>T (p.Leu862=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160975]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562723] |
Chr5:1266534 [GRCh38]
Chr5:1266649 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.846C>T (p.Ala282=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560363] |
Chr5:1294040 [GRCh38]
Chr5:1294155 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2022C>T (p.Gly674=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421102]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562679] |
Chr5:1279399 [GRCh38]
Chr5:1279514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+186TG[8] |
microsatellite |
not provided [RCV001666086] |
Chr5:1278441..1278442 [GRCh38]
Chr5:1278556..1278557 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3158-4C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562698]|TERT-related condition [RCV003900673] |
Chr5:1254509 [GRCh38]
Chr5:1254624 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1077G>A (p.Arg359=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567966] |
Chr5:1293809 [GRCh38]
Chr5:1293924 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-4_3033-3del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562726] |
Chr5:1255414..1255415 [GRCh38]
Chr5:1255529..1255530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1995C>G (p.Leu665=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160917]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561964] |
Chr5:1279426 [GRCh38]
Chr5:1279541 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557530] |
Chr5:1255418 [GRCh38]
Chr5:1255533 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3333G>T (p.Thr1111=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561966] |
Chr5:1253794 [GRCh38]
Chr5:1253909 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1314del (p.Glu439fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550260] |
Chr5:1293572 [GRCh38]
Chr5:1293687 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1278T>C (p.Cys426=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560343] |
Chr5:1293608 [GRCh38]
Chr5:1293723 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.415C>T (p.Leu139=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329641]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104137] |
Chr5:1294471 [GRCh38]
Chr5:1294586 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1539C>T (p.Ser513=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555143] |
Chr5:1293347 [GRCh38]
Chr5:1293462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-4A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555567] |
Chr5:1278800 [GRCh38]
Chr5:1278915 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.66G>A (p.Leu22=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104113] |
Chr5:1294924 [GRCh38]
Chr5:1295039 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.957G>C (p.Thr319=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003160921]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561970]|TERT-related condition [RCV003900634] |
Chr5:1293929 [GRCh38]
Chr5:1294044 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2836T>C (p.Tyr946His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104140]|not provided [RCV001509244]|not specified [RCV001821805] |
Chr5:1264411 [GRCh38]
Chr5:1264526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.24A>G (p.Arg8=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432276]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104115] |
Chr5:1294966 [GRCh38]
Chr5:1295081 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.969G>C (p.Pro323=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384708]|Dyskeratosis congenita, autosomal dominant 2 [RCV003771433] |
Chr5:1293917 [GRCh38]
Chr5:1294032 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3378C>T (p.Asp1126=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563322] |
Chr5:1253749 [GRCh38]
Chr5:1253864 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.549G>A (p.Gln183=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104087] |
Chr5:1294337 [GRCh38]
Chr5:1294452 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.123C>T (p.Arg41=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561272] |
Chr5:1294867 [GRCh38]
Chr5:1294982 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1905C>T (p.Asn635=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563340] |
Chr5:1280203 [GRCh38]
Chr5:1280318 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1545G>A (p.Arg515=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002567957] |
Chr5:1293341 [GRCh38]
Chr5:1293456 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3210G>A (p.Val1070=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449268]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562000] |
Chr5:1254453 [GRCh38]
Chr5:1254568 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1386C>T (p.Tyr462=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562007] |
Chr5:1293500 [GRCh38]
Chr5:1293615 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1698C>T (p.Thr566=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561934] |
Chr5:1282500 [GRCh38]
Chr5:1282615 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-4455C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002568033] |
Chr5:1287079 [GRCh38]
Chr5:1287194 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.441C>T (p.Asp147=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561300] |
Chr5:1294445 [GRCh38]
Chr5:1294560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1890G>T (p.Leu630=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002256810]|Dyskeratosis congenita [RCV002414217]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563350] |
Chr5:1280218 [GRCh38]
Chr5:1280333 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1893G>A (p.Arg631=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104135] |
Chr5:1280215 [GRCh38]
Chr5:1280330 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2851C>A (p.Arg951=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562650]|TERT-related condition [RCV003938853] |
Chr5:1260593 [GRCh38]
Chr5:1260708 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1380G>A (p.Gln460=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384573]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552699]|not specified [RCV001820097] |
Chr5:1293506 [GRCh38]
Chr5:1293621 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1951-10del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554070] |
Chr5:1279480 [GRCh38]
Chr5:1279595 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2682T>C (p.Tyr894=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439073]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557550] |
Chr5:1264565 [GRCh38]
Chr5:1264680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1608G>A (p.Leu536=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002395990]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555175] |
Chr5:1282590 [GRCh38]
Chr5:1282705 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1356C>T (p.Leu452=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002384832]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563302] |
Chr5:1293530 [GRCh38]
Chr5:1293645 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1422C>T (p.Pro474=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258236]|Dyskeratosis congenita [RCV002395945]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554056] |
Chr5:1293464 [GRCh38]
Chr5:1293579 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1773G>A (p.Gln591=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555132] |
Chr5:1280335 [GRCh38]
Chr5:1280450 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1665G>A (p.Glu555=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555576] |
Chr5:1282533 [GRCh38]
Chr5:1282648 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.447G>A (p.Leu149=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329439]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553430] |
Chr5:1294439 [GRCh38]
Chr5:1294554 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2970+2T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550253] |
Chr5:1260472 [GRCh38]
Chr5:1260587 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NC_000005.9:g.(?_1287194)_(1297488_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104071] |
Chr5:1287194..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2400G>A (p.Glu800=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555165] |
Chr5:1271187 [GRCh38]
Chr5:1271302 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.876G>A (p.Thr292=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561992] |
Chr5:1294010 [GRCh38]
Chr5:1294125 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2247G>A (p.Lys749=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432284]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560356] |
Chr5:1278680 [GRCh38]
Chr5:1278795 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1233G>C (p.Thr411=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562669] |
Chr5:1293653 [GRCh38]
Chr5:1293768 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.978C>T (p.Ala326=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104093] |
Chr5:1293908 [GRCh38]
Chr5:1294023 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1404C>T (p.Cys468=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563358] |
Chr5:1293482 [GRCh38]
Chr5:1293597 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1522C>T (p.Leu508=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564164] |
Chr5:1293364 [GRCh38]
Chr5:1293479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.420G>C (p.Leu140=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003154037] |
Chr5:1294466 [GRCh38]
Chr5:1294581 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.408G>A (p.Ala136=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322424]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554061] |
Chr5:1294478 [GRCh38]
Chr5:1294593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.126G>C (p.Gly42=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555581]|not provided [RCV003433171] |
Chr5:1294864 [GRCh38]
Chr5:1294979 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1419G>A (p.Val473=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561995] |
Chr5:1293467 [GRCh38]
Chr5:1293582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.597C>T (p.Cys199=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002359040]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561945] |
Chr5:1294289 [GRCh38]
Chr5:1294404 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1737T>C (p.Ser579=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003154184] |
Chr5:1282461 [GRCh38]
Chr5:1282576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.786G>A (p.Thr262=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413998]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554076] |
Chr5:1294100 [GRCh38]
Chr5:1294215 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2988G>A (p.Thr996=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439102]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561940] |
Chr5:1258642 [GRCh38]
Chr5:1258757 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.9:g.(?_1253823)_(1448148_?)del |
deletion |
Parkinsonism-dystonia, infantile [RCV001384881] |
Chr5:1253823..1448148 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.-124C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003470881]|Malignant tumor of urinary bladder [RCV003332346]|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV001728078]|not provided [RCV002073409]|not specified [RCV002223145] |
Chr5:1295113 [GRCh38]
Chr5:1295228 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.1194G>C (p.Gly398=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003108454] |
Chr5:1293692 [GRCh38]
Chr5:1293807 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1885G>A (p.Gly629Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414331]|Dyskeratosis congenita, autosomal dominant 2 [RCV003772068]|not provided [RCV001757403] |
Chr5:1280223 [GRCh38]
Chr5:1280338 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3100C>G (p.Arg1034Gly) |
single nucleotide variant |
not provided [RCV001776980] |
Chr5:1255344 [GRCh38]
Chr5:1255459 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.531del (p.Gln177fs) |
deletion |
not provided [RCV003238690] |
Chr5:1294355 [GRCh38]
Chr5:1294470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1490T>G (p.Leu497Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002544182]|not provided [RCV001768038] |
Chr5:1293396 [GRCh38]
Chr5:1293511 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2869A>G (p.Ser957Gly) |
single nucleotide variant |
not provided [RCV001768205] |
Chr5:1260575 [GRCh38]
Chr5:1260690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2131-16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002540730]|not provided [RCV003237483] |
Chr5:1278812 [GRCh38]
Chr5:1278927 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1088C>T (p.Thr363Ile) |
single nucleotide variant |
not provided [RCV003237583] |
Chr5:1293798 [GRCh38]
Chr5:1293913 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1399G>T (p.Ala467Ser) |
single nucleotide variant |
not provided [RCV003237497] |
Chr5:1293487 [GRCh38]
Chr5:1293602 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.329G>C (p.Gly110Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542371]|Pulmonary fibrosis [RCV002509702]|not provided [RCV001806957] |
Chr5:1294557 [GRCh38]
Chr5:1294672 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.2006G>C (p.Arg669Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569245] |
Chr5:1279415 [GRCh38]
Chr5:1279530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-123T>A |
single nucleotide variant |
not specified [RCV001817415] |
Chr5:1295112 [GRCh38]
Chr5:1295227 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1765A>C (p.Ile589Leu) |
single nucleotide variant |
not provided [RCV001776832] |
Chr5:1282433 [GRCh38]
Chr5:1282548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2562T>G (p.Phe854Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003772291]|not specified [RCV001817341] |
Chr5:1268540 [GRCh38]
Chr5:1268655 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.316G>T (p.Gly106Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003772116]|not provided [RCV001776697] |
Chr5:1294570 [GRCh38]
Chr5:1294685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2314T>C (p.Tyr772His) |
single nucleotide variant |
not provided [RCV001817673] |
Chr5:1272253 [GRCh38]
Chr5:1272368 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3157+1G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003772338]|not provided [RCV001817788] |
Chr5:1255286 [GRCh38]
Chr5:1255401 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3171_3172delinsAA (p.Ala1058Thr) |
indel |
not specified [RCV001817871] |
Chr5:1254491..1254492 [GRCh38]
Chr5:1254606..1254607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.570_586dup (p.Arg196fs) |
duplication |
not provided [RCV001817953] |
Chr5:1294299..1294300 [GRCh38]
Chr5:1294414..1294415 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.571A>G (p.Ser191Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542020]|not specified [RCV001819280] |
Chr5:1294315 [GRCh38]
Chr5:1294430 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2318T>C (p.Met773Thr) |
single nucleotide variant |
not specified [RCV001819414] |
Chr5:1272249 [GRCh38]
Chr5:1272364 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-236G>A |
single nucleotide variant |
not specified [RCV001819498] |
Chr5:1295225 [GRCh38]
Chr5:1295340 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-173C>T |
single nucleotide variant |
not specified [RCV001820288] |
Chr5:1295162 [GRCh38]
Chr5:1295277 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+12G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542040]|not specified [RCV001820289] |
Chr5:1278629 [GRCh38]
Chr5:1278744 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2012G>C (p.Arg671Pro) |
single nucleotide variant |
not specified [RCV001820573] |
Chr5:1279409 [GRCh38]
Chr5:1279524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-12C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542532]|not specified [RCV001817430] |
Chr5:1260612 [GRCh38]
Chr5:1260727 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.2(TERT):c.-192T>C |
single nucleotide variant |
not specified [RCV001822533] |
Chr5:1295181 [GRCh38]
Chr5:1295296 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.88C>T (p.Arg30Cys) |
single nucleotide variant |
not specified [RCV001822619] |
Chr5:1294902 [GRCh38]
Chr5:1295017 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002291772]|Dyskeratosis congenita, autosomal dominant 2 [RCV002542692]|not specified [RCV001822797] |
Chr5:1293877 [GRCh38]
Chr5:1293992 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1775A>G (p.His592Arg) |
single nucleotide variant |
not specified [RCV001817726] |
Chr5:1280333 [GRCh38]
Chr5:1280448 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-193T>C |
single nucleotide variant |
not specified [RCV001819166] |
Chr5:1295182 [GRCh38]
Chr5:1295297 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.2(TERT):c.-222G>A |
single nucleotide variant |
not specified [RCV001819182] |
Chr5:1295211 [GRCh38]
Chr5:1295326 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.-139C>T |
single nucleotide variant |
not specified [RCV001819210] |
Chr5:1295128 [GRCh38]
Chr5:1295243 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002542016]|not specified [RCV001819219] |
Chr5:1254407 [GRCh38]
Chr5:1254522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1540G>T (p.Val514Leu) |
single nucleotide variant |
not specified [RCV001820252] |
Chr5:1293346 [GRCh38]
Chr5:1293461 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2582+10_2582+11delinsTT |
indel |
not specified [RCV001820281] |
Chr5:1268509..1268510 [GRCh38]
Chr5:1268624..1268625 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-45G>T |
single nucleotide variant |
not specified [RCV001820334] |
Chr5:1295034 [GRCh38]
Chr5:1295149 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2840C>T (p.Ser947Phe) |
single nucleotide variant |
not specified [RCV001820462] |
Chr5:1264407 [GRCh38]
Chr5:1264522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1448A>G (p.Asn483Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388681]|not specified [RCV001820483] |
Chr5:1293438 [GRCh38]
Chr5:1293553 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3083A>C (p.Asn1028Thr) |
single nucleotide variant |
not specified [RCV001822422] |
Chr5:1255361 [GRCh38]
Chr5:1255476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3005A>G (p.Tyr1002Cys) |
single nucleotide variant |
not specified [RCV001822535] |
Chr5:1258625 [GRCh38]
Chr5:1258740 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2817C>T (p.Thr939=) |
single nucleotide variant |
not specified [RCV001822699] |
Chr5:1264430 [GRCh38]
Chr5:1264545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1400_1401delinsTT (p.Ala467Val) |
indel |
not specified [RCV001822792] |
Chr5:1293485..1293486 [GRCh38]
Chr5:1293600..1293601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2305C>T (p.Leu769Phe) |
single nucleotide variant |
not specified [RCV001822821] |
Chr5:1272262 [GRCh38]
Chr5:1272377 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554173] |
Chr5:1254486 [GRCh38]
Chr5:1254601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1602C>A (p.His534Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562939] |
Chr5:1282596 [GRCh38]
Chr5:1282711 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.671_672delinsAA (p.Arg224Gln) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548938] |
Chr5:1294214..1294215 [GRCh38]
Chr5:1294329..1294330 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.913G>A (p.Ala305Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164058]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545782] |
Chr5:1293973 [GRCh38]
Chr5:1294088 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.996del (p.Tyr333fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562126] |
Chr5:1293890 [GRCh38]
Chr5:1294005 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552792] |
Chr5:1272237..1272252 [GRCh38]
Chr5:1272352..1272367 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1361A>T (p.Gln454Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592652] |
Chr5:1293525 [GRCh38]
Chr5:1293640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1361A>G (p.Gln454Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161280]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548939] |
Chr5:1293525 [GRCh38]
Chr5:1293640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2020G>T (p.Gly674Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423174]|Dyskeratosis congenita, autosomal dominant 2 [RCV002573394] |
Chr5:1279401 [GRCh38]
Chr5:1279516 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1879C>G (p.Pro627Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164224]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551150] |
Chr5:1280229 [GRCh38]
Chr5:1280344 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.305C>T (p.Ala102Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545440] |
Chr5:1294581 [GRCh38]
Chr5:1294696 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1568G>A (p.Ser523Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548920] |
Chr5:1293318 [GRCh38]
Chr5:1293433 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548945] |
Chr5:1278636 [GRCh38]
Chr5:1278751 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1612G>T (p.Glu538Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562752] |
Chr5:1282586 [GRCh38]
Chr5:1282701 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3157+3A>G |
single nucleotide variant |
not provided [RCV001849174] |
Chr5:1255284 [GRCh38]
Chr5:1255399 [GRCh37]
Chr5:5p15.33 |
not provided |
| NM_198253.3(TERT):c.1009G>T (p.Asp337Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554130] |
Chr5:1293877 [GRCh38]
Chr5:1293992 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3386C>A (p.Thr1129Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561323] |
Chr5:1253741 [GRCh38]
Chr5:1253856 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 |
copy number loss |
not provided [RCV001827855] |
Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.2291C>T (p.Ser764Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545773] |
Chr5:1272276 [GRCh38]
Chr5:1272391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.329del (p.Gly110fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564399] |
Chr5:1294557 [GRCh38]
Chr5:1294672 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1388G>C (p.Gly463Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552787] |
Chr5:1293498 [GRCh38]
Chr5:1293613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2209A>G (p.Asn737Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579649]|Dyskeratosis congenita, autosomal dominant 2 [RCV003471229] |
Chr5:1278718 [GRCh38]
Chr5:1278833 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167314]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560609] |
Chr5:1294020 [GRCh38]
Chr5:1294135 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218471)_(1895829_?)del |
deletion |
Parkinsonism-dystonia, infantile [RCV003120784] |
Chr5:218471..1895829 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.4C>G (p.Pro2Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552776]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475137] |
Chr5:1294986 [GRCh38]
Chr5:1295101 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2908A>C (p.Met970Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441054]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560557] |
Chr5:1260536 [GRCh38]
Chr5:1260651 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.682G>A (p.Ala228Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562102] |
Chr5:1294204 [GRCh38]
Chr5:1294319 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1208G>C (p.Cys403Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560542] |
Chr5:1293678 [GRCh38]
Chr5:1293793 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3085C>T (p.Pro1029Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551164] |
Chr5:1255359 [GRCh38]
Chr5:1255474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3193C>G (p.Leu1065Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324307]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557572] |
Chr5:1254470 [GRCh38]
Chr5:1254585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3199T>G (p.Ser1067Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002573549] |
Chr5:1254464 [GRCh38]
Chr5:1254579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.109C>G (p.Arg37Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560544] |
Chr5:1294881 [GRCh38]
Chr5:1294996 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2671G>A (p.Val891Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551103] |
Chr5:1264576 [GRCh38]
Chr5:1264691 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113577-2276310)x1 |
copy number loss |
not provided [RCV001834250] |
Chr5:113577..2276310 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2952C>G (p.Ser984Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554290] |
Chr5:1260492 [GRCh38]
Chr5:1260607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2421C>G (p.Asp807Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552873] |
Chr5:1271166 [GRCh38]
Chr5:1271281 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2455C>A (p.Arg819Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557674]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475164] |
Chr5:1271132 [GRCh38]
Chr5:1271247 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1018C>A (p.Gln340Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592646] |
Chr5:1293868 [GRCh38]
Chr5:1293983 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1759A>G (p.Ile587Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170247]|Dyskeratosis congenita, autosomal dominant 2 [RCV002569285] |
Chr5:1282439 [GRCh38]
Chr5:1282554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1387G>A (p.Gly463Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388760]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552849] |
Chr5:1293499 [GRCh38]
Chr5:1293614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2923T>C (p.Phe975Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107939] |
Chr5:1260521 [GRCh38]
Chr5:1260636 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.665G>A (p.Arg222Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545484] |
Chr5:1294221 [GRCh38]
Chr5:1294336 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1287194)_(1297488_?)dup |
duplication |
Interstitial lung disease 2 [RCV001910257] |
Chr5:1287194..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3181G>T (p.Ala1061Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552874] |
Chr5:1254482 [GRCh38]
Chr5:1254597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.261G>T (p.Arg87Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545412]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475111] |
Chr5:1294625 [GRCh38]
Chr5:1294740 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1408C>T (p.Arg470Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391128]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550452] |
Chr5:1293478 [GRCh38]
Chr5:1293593 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2738C>G (p.Ala913Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592642] |
Chr5:1264509 [GRCh38]
Chr5:1264624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1637A>G (p.His546Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552297] |
Chr5:1282561 [GRCh38]
Chr5:1282676 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1155C>G (p.Arg385=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352750]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548824] |
Chr5:1293731 [GRCh38]
Chr5:1293846 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.161G>A (p.Cys54Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104164]|not specified [RCV003151377] |
Chr5:1294829 [GRCh38]
Chr5:1294944 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1623_1624delinsTT (p.Ala542Ser) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548903] |
Chr5:1282574..1282575 [GRCh38]
Chr5:1282689..1282690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555629] |
Chr5:1272283 [GRCh38]
Chr5:1272398 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+6G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002573521] |
Chr5:1272179 [GRCh38]
Chr5:1272294 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.599A>G (p.Glu200Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352756]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548902] |
Chr5:1294287 [GRCh38]
Chr5:1294402 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1810G>A (p.Ala604Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407316]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551162] |
Chr5:1280298 [GRCh38]
Chr5:1280413 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+5G>T |
single nucleotide variant |
not provided [RCV001849173] |
Chr5:1254363 [GRCh38]
Chr5:1254478 [GRCh37]
Chr5:5p15.33 |
not provided |
| NM_198253.3(TERT):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107935] |
Chr5:1294326 [GRCh38]
Chr5:1294441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.196C>T (p.Pro66Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548120] |
Chr5:1294794 [GRCh38]
Chr5:1294909 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2401G>C (p.Ala801Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571200] |
Chr5:1271186 [GRCh38]
Chr5:1271301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.706A>G (p.Lys236Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552807] |
Chr5:1294180 [GRCh38]
Chr5:1294295 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.890C>T (p.Pro297Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552320] |
Chr5:1293996 [GRCh38]
Chr5:1294111 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1904A>G (p.Asn635Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562147] |
Chr5:1280204 [GRCh38]
Chr5:1280319 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1067G>C (p.Gly356Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407085]|Dyskeratosis congenita, autosomal dominant 2 [RCV002557823] |
Chr5:1293819 [GRCh38]
Chr5:1293934 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1258A>G (p.Thr420Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571199] |
Chr5:1293628 [GRCh38]
Chr5:1293743 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.124G>C (p.Gly42Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553587]|Interstitial lung disease 2 [RCV002503509] |
Chr5:1294866 [GRCh38]
Chr5:1294981 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1122del (p.Thr375fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552290] |
Chr5:1293764 [GRCh38]
Chr5:1293879 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2413C>T (p.Leu805Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545486] |
Chr5:1271174 [GRCh38]
Chr5:1271289 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.708G>C (p.Lys236Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170305]|Dyskeratosis congenita, autosomal dominant 2 [RCV002573436]|not provided [RCV003442984] |
Chr5:1294178 [GRCh38]
Chr5:1294293 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3371C>T (p.Pro1124Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548850] |
Chr5:1253756 [GRCh38]
Chr5:1253871 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563568] |
Chr5:1293646 [GRCh38]
Chr5:1293761 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2971-4C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562112] |
Chr5:1258663 [GRCh38]
Chr5:1258778 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.33(chr5:1049525-1278280)x3 |
copy number gain |
not provided [RCV001834230] |
Chr5:1049525..1278280 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002343985]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554308]|Dyskeratosis congenita, autosomal dominant 2 [RCV003320388]|not provided [RCV002284501] |
Chr5:1293735 [GRCh38]
Chr5:1293850 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1037T>C (p.Leu346Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388805]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555336] |
Chr5:1293849 [GRCh38]
Chr5:1293964 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562738] |
Chr5:1280235..1280236 [GRCh38]
Chr5:1280350..1280351 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:862397-1288682)x3 |
copy number gain |
not provided [RCV001829200] |
Chr5:862397..1288682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.922C>G (p.Pro308Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569326]|not provided [RCV002274242] |
Chr5:1293964 [GRCh38]
Chr5:1294079 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.794C>T (p.Pro265Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554366] |
Chr5:1294092 [GRCh38]
Chr5:1294207 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1258A>T (p.Thr420Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569164] |
Chr5:1293628 [GRCh38]
Chr5:1293743 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.267C>T (p.Cys89=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554167] |
Chr5:1294619 [GRCh38]
Chr5:1294734 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2360G>T (p.Arg787Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545735] |
Chr5:1272207 [GRCh38]
Chr5:1272322 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.370C>G (p.Pro124Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553564] |
Chr5:1294516 [GRCh38]
Chr5:1294631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.146C>G (p.Ala49Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562074] |
Chr5:1294844 [GRCh38]
Chr5:1294959 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2360G>A (p.Arg787Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555216] |
Chr5:1272207 [GRCh38]
Chr5:1272322 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1457G>A (p.Arg486His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552268] |
Chr5:1293429 [GRCh38]
Chr5:1293544 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.98C>T (p.Pro33Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554261] |
Chr5:1294892 [GRCh38]
Chr5:1295007 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.199G>C (p.Ala67Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561504] |
Chr5:1294791 [GRCh38]
Chr5:1294906 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1142G>A (p.Arg381His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002458867]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562964]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475200] |
Chr5:1293744 [GRCh38]
Chr5:1293859 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+3G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552228] |
Chr5:1294768 [GRCh38]
Chr5:1294883 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+6T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561451] |
Chr5:1254362 [GRCh38]
Chr5:1254477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1804T>C (p.Ser602Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592602] |
Chr5:1280304 [GRCh38]
Chr5:1280419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2025C>T (p.Leu675=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422981]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553614] |
Chr5:1279396 [GRCh38]
Chr5:1279511 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.175C>T (p.Pro59Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547920] |
Chr5:1294815 [GRCh38]
Chr5:1294930 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.556C>T (p.Pro186Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557659] |
Chr5:1294330 [GRCh38]
Chr5:1294445 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1258794_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107893] |
Chr5:1253843..1258794 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+6G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557874] |
Chr5:1293307 [GRCh38]
Chr5:1293422 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3076T>G (p.Trp1026Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579569] |
Chr5:1255368 [GRCh38]
Chr5:1255483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2987C>T (p.Thr996Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562226] |
Chr5:1258643 [GRCh38]
Chr5:1258758 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.572G>A (p.Ser191Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548954] |
Chr5:1294314 [GRCh38]
Chr5:1294429 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1292C>A (p.Pro431His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552201] |
Chr5:1293594 [GRCh38]
Chr5:1293709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2911C>T (p.Arg971Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561444] |
Chr5:1260533 [GRCh38]
Chr5:1260648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2927G>A (p.Gly976Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555622] |
Chr5:1260517 [GRCh38]
Chr5:1260632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2353C>T (p.Pro785Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545543] |
Chr5:1272214 [GRCh38]
Chr5:1272329 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.27C>G (p.Ala9=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440924]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545870] |
Chr5:1294963 [GRCh38]
Chr5:1295078 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.-57A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543450] |
Chr5:1295046 [GRCh38]
Chr5:1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.403G>C (p.Gly135Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571282] |
Chr5:1294483 [GRCh38]
Chr5:1294598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1895C>T (p.Pro632Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592610]|Pulmonary fibrosis [RCV002509734]|not provided [RCV003332368] |
Chr5:1280213 [GRCh38]
Chr5:1280328 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.3325G>A (p.Gly1109Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550982] |
Chr5:1253802 [GRCh38]
Chr5:1253917 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1286516_?)dup |
duplication |
Interstitial lung disease 2 [RCV001943321] |
Chr5:1253843..1286516 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.953A>G (p.Asp318Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545309] |
Chr5:1293933 [GRCh38]
Chr5:1294048 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1349A>G (p.Gln450Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552159] |
Chr5:1293537 [GRCh38]
Chr5:1293652 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3350C>T (p.Ala1117Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562762] |
Chr5:1253777 [GRCh38]
Chr5:1253892 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579662]|Telomere syndrome [RCV003325413] |
Chr5:1255326 [GRCh38]
Chr5:1255441 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_198253.3(TERT):c.1280C>T (p.Ala427Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562801] |
Chr5:1293606 [GRCh38]
Chr5:1293721 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555691] |
Chr5:1254363 [GRCh38]
Chr5:1254478 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2832C>A (p.Ser944Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164239]|Dyskeratosis congenita, autosomal dominant 2 [RCV002552761] |
Chr5:1264415 [GRCh38]
Chr5:1264530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.881A>T (p.His294Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553465] |
Chr5:1294005 [GRCh38]
Chr5:1294120 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.77C>T (p.Thr26Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406955]|Dyskeratosis congenita, autosomal dominant 2 [RCV002550983] |
Chr5:1294913 [GRCh38]
Chr5:1295028 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.412G>A (p.Gly138Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571260] |
Chr5:1294474 [GRCh38]
Chr5:1294589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2200A>G (p.Lys734Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560729] |
Chr5:1278727 [GRCh38]
Chr5:1278842 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+3G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553535] |
Chr5:1279288 [GRCh38]
Chr5:1279403 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1254473)_(1297488_?)dup |
duplication |
Interstitial lung disease 2 [RCV001888338] |
Chr5:1254473..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.227G>C (p.Cys76Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555292] |
Chr5:1294659 [GRCh38]
Chr5:1294774 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.541G>T (p.Ala181Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552928] |
Chr5:1294345 [GRCh38]
Chr5:1294460 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2051A>T (p.Asp684Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551093] |
Chr5:1279370 [GRCh38]
Chr5:1279485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.988C>A (p.His330Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002625362] |
Chr5:1293898 [GRCh38]
Chr5:1294013 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2467A>G (p.Lys823Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571215] |
Chr5:1271120 [GRCh38]
Chr5:1271235 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.799G>A (p.Asp267Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002592583] |
Chr5:1294087 [GRCh38]
Chr5:1294202 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.532C>G (p.Leu178Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548739] |
Chr5:1294354 [GRCh38]
Chr5:1294469 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545852] |
Chr5:1271207 [GRCh38]
Chr5:1271322 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3032+5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104154] |
Chr5:1258593 [GRCh38]
Chr5:1258708 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-6T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545351] |
Chr5:1260606 [GRCh38]
Chr5:1260721 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2970+6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107906] |
Chr5:1260468 [GRCh38]
Chr5:1260583 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2095G>A (p.Ala699Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551219] |
Chr5:1279326 [GRCh38]
Chr5:1279441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295G>A (p.Ala1099Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545853] |
Chr5:1254368 [GRCh38]
Chr5:1254483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423032]|Dyskeratosis congenita, autosomal dominant 2 [RCV002556325]|Interstitial lung disease 2 [RCV002484468] |
Chr5:1293816 [GRCh38]
Chr5:1293931 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.154G>A (p.Ala52Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555627] |
Chr5:1294836 [GRCh38]
Chr5:1294951 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1486T>A (p.Ser496Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388788]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553670] |
Chr5:1293400 [GRCh38]
Chr5:1293515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3248C>G (p.Thr1083Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560600] |
Chr5:1254415 [GRCh38]
Chr5:1254530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3040G>T (p.Ala1014Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443009]|Dyskeratosis congenita, autosomal dominant 2 [RCV002592632] |
Chr5:1255404 [GRCh38]
Chr5:1255519 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1950+20A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545856] |
Chr5:1280138 [GRCh38]
Chr5:1280253 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.557C>T (p.Pro186Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545376] |
Chr5:1294329 [GRCh38]
Chr5:1294444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2032G>A (p.Ala678Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548807]|not provided [RCV003232517] |
Chr5:1279389 [GRCh38]
Chr5:1279504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2182G>A (p.Val728Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107909] |
Chr5:1278745 [GRCh38]
Chr5:1278860 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548978] |
Chr5:1254511 [GRCh38]
Chr5:1254626 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1309G>T (p.Ala437Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164030]|Dyskeratosis congenita, autosomal dominant 2 [RCV002545382] |
Chr5:1293577 [GRCh38]
Chr5:1293692 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.448G>T (p.Val150Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548070] |
Chr5:1294438 [GRCh38]
Chr5:1294553 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+2C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545656] |
Chr5:1254366 [GRCh38]
Chr5:1254481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1265C>G (p.Ala422Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107914] |
Chr5:1293621 [GRCh38]
Chr5:1293736 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.4C>A (p.Pro2Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555232] |
Chr5:1294986 [GRCh38]
Chr5:1295101 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.923dup (p.Ser309fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545863] |
Chr5:1293962..1293963 [GRCh38]
Chr5:1294077..1294078 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1318G>A (p.Glu440Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548877] |
Chr5:1293568 [GRCh38]
Chr5:1293683 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.10_11dup (p.Pro5fs) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560407] |
Chr5:1294978..1294979 [GRCh38]
Chr5:1295093..1295094 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3031A>C (p.Arg1011=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642160] |
Chr5:1258599 [GRCh38]
Chr5:1258714 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3122C>T (p.Ser1041Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545513] |
Chr5:1255322 [GRCh38]
Chr5:1255437 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.959C>G (p.Pro320Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545310] |
Chr5:1293927 [GRCh38]
Chr5:1294042 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2396A>G (p.Asn799Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002458747]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554222] |
Chr5:1271191 [GRCh38]
Chr5:1271306 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.247C>T (p.Arg83Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552829] |
Chr5:1294639 [GRCh38]
Chr5:1294754 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.9:g.(?_218471)_(1816030_?)del |
deletion |
not provided [RCV001915899] |
Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1870A>G (p.Ile624Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555246] |
Chr5:1280238 [GRCh38]
Chr5:1280353 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.319G>T (p.Ala107Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569203] |
Chr5:1294567 [GRCh38]
Chr5:1294682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.8G>C (p.Arg3Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563612] |
Chr5:1294982 [GRCh38]
Chr5:1295097 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2197A>G (p.Ile733Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560692] |
Chr5:1278730 [GRCh38]
Chr5:1278845 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.598G>T (p.Glu200Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555249] |
Chr5:1294288 [GRCh38]
Chr5:1294403 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1411C>A (p.Arg471=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545319] |
Chr5:1293475 [GRCh38]
Chr5:1293590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2348C>T (p.Thr783Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550300] |
Chr5:1272219 [GRCh38]
Chr5:1272334 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.104G>A (p.Gly35Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555608] |
Chr5:1294886 [GRCh38]
Chr5:1295001 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2747G>A (p.Gly916Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551198] |
Chr5:1264500 [GRCh38]
Chr5:1264615 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.920C>G (p.Pro307Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551202] |
Chr5:1293966 [GRCh38]
Chr5:1294081 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.470C>T (p.Ala157Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548738] |
Chr5:1294416 [GRCh38]
Chr5:1294531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.832C>T (p.Pro278Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550494] |
Chr5:1294054 [GRCh38]
Chr5:1294169 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.865C>T (p.Leu289Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554147] |
Chr5:1294021 [GRCh38]
Chr5:1294136 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.937C>T (p.Pro313Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551098] |
Chr5:1293949 [GRCh38]
Chr5:1294064 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1328C>A (p.Thr443Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571358] |
Chr5:1293558 [GRCh38]
Chr5:1293673 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3352G>T (p.Ala1118Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167046]|Dyskeratosis congenita, autosomal dominant 2 [RCV002554319] |
Chr5:1253775 [GRCh38]
Chr5:1253890 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1953C>A (p.Ala651=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560492] |
Chr5:1279468 [GRCh38]
Chr5:1279583 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1012A>C (p.Lys338Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543443] |
Chr5:1293874 [GRCh38]
Chr5:1293989 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1253843)_(1264717_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104152] |
Chr5:1253843..1264717 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.718C>T (p.Arg240Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555371] |
Chr5:1294168 [GRCh38]
Chr5:1294283 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2696A>C (p.Asn899Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548116] |
Chr5:1264551 [GRCh38]
Chr5:1264666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1840C>T (p.Pro614Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571238] |
Chr5:1280268 [GRCh38]
Chr5:1280383 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2945G>A (p.Cys982Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557750] |
Chr5:1260499 [GRCh38]
Chr5:1260614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574G>A (p.Gly525Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560448] |
Chr5:1282624 [GRCh38]
Chr5:1282739 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-11C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002556334] |
Chr5:1260611 [GRCh38]
Chr5:1260726 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1499A>T (p.His500Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560644]|not provided [RCV003167323] |
Chr5:1293387 [GRCh38]
Chr5:1293502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.317G>A (p.Gly106Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002571176] |
Chr5:1294569 [GRCh38]
Chr5:1294684 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.214C>T (p.Arg72Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569185] |
Chr5:1294776 [GRCh38]
Chr5:1294891 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2579A>G (p.Asp860Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579594] |
Chr5:1268523 [GRCh38]
Chr5:1268638 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2905A>C (p.Asn969His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441125]|Dyskeratosis congenita, autosomal dominant 2 [RCV002571247] |
Chr5:1260539 [GRCh38]
Chr5:1260654 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1964C>A (p.Thr655Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164296]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553459] |
Chr5:1279457 [GRCh38]
Chr5:1279572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1282524)_(1282759_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104146] |
Chr5:1282524..1282759 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1650T>G (p.Ser550Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642013] |
Chr5:1282548 [GRCh38]
Chr5:1282663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.943C>T (p.Arg315Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642088] |
Chr5:1293943 [GRCh38]
Chr5:1294058 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1558C>G (p.Leu520Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002398022]|Dyskeratosis congenita, autosomal dominant 2 [RCV002569205] |
Chr5:1293328 [GRCh38]
Chr5:1293443 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1340G>A (p.Arg447His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386862]|Dyskeratosis congenita, autosomal dominant 2 [RCV002592665] |
Chr5:1293546 [GRCh38]
Chr5:1293661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.863C>G (p.Ala288Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543477] |
Chr5:1294023 [GRCh38]
Chr5:1294138 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.131C>T (p.Pro44Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555650] |
Chr5:1294859 [GRCh38]
Chr5:1294974 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1249G>C (p.Ala417Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002564438] |
Chr5:1293637 [GRCh38]
Chr5:1293752 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.689G>T (p.Arg230Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642110] |
Chr5:1294197 [GRCh38]
Chr5:1294312 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1931C>A (p.Thr644Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561438] |
Chr5:1280177 [GRCh38]
Chr5:1280292 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1296G>A (p.Gln432=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557795] |
Chr5:1293590 [GRCh38]
Chr5:1293705 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549078] |
Chr5:1294030 [GRCh38]
Chr5:1294145 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1492G>A (p.Gly498Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003104156] |
Chr5:1293394 [GRCh38]
Chr5:1293509 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3003C>T (p.Ile1001=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441012]|Dyskeratosis congenita, autosomal dominant 2 [RCV002555663] |
Chr5:1258627 [GRCh38]
Chr5:1258742 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.767G>A (p.Trp256Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002557880] |
Chr5:1294119 [GRCh38]
Chr5:1294234 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1589C>A (p.Pro530Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107866] |
Chr5:1282609 [GRCh38]
Chr5:1282724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.624G>T (p.Arg208Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569272] |
Chr5:1294262 [GRCh38]
Chr5:1294377 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1181T>A (p.Leu394Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002334987]|Dyskeratosis congenita, autosomal dominant 2 [RCV002571298] |
Chr5:1293705 [GRCh38]
Chr5:1293820 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1048C>A (p.Leu350Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547937] |
Chr5:1293838 [GRCh38]
Chr5:1293953 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+13G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569225] |
Chr5:1294758 [GRCh38]
Chr5:1294873 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2689G>T (p.Val897Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548172] |
Chr5:1264558 [GRCh38]
Chr5:1264673 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2002G>A (p.Glu668Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569189]|not provided [RCV003481224] |
Chr5:1279419 [GRCh38]
Chr5:1279534 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2583-4T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545668] |
Chr5:1266539 [GRCh38]
Chr5:1266654 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1282C>T (p.Arg428Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563506] |
Chr5:1293604 [GRCh38]
Chr5:1293719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.875C>T (p.Thr292Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552294] |
Chr5:1294011 [GRCh38]
Chr5:1294126 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.353G>A (p.Ser118Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002563536] |
Chr5:1294533 [GRCh38]
Chr5:1294648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561466]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002282656]|not provided [RCV003481200] |
Chr5:1278775 [GRCh38]
Chr5:1278890 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.637C>T (p.Pro213Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579511] |
Chr5:1294249 [GRCh38]
Chr5:1294364 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1675T>G (p.Ser559Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555649] |
Chr5:1282523 [GRCh38]
Chr5:1282638 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2884C>A (p.Arg962Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555642] |
Chr5:1260560 [GRCh38]
Chr5:1260675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218471)_(1816030_?)dup |
duplication |
Parkinsonism-dystonia, infantile [RCV001939977]|not provided [RCV001939976] |
Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.661G>A (p.Ala221Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642186] |
Chr5:1294225 [GRCh38]
Chr5:1294340 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2908A>G (p.Met970Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002579518] |
Chr5:1260536 [GRCh38]
Chr5:1260651 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2582+6G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562043] |
Chr5:1268514 [GRCh38]
Chr5:1268629 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1377G>T (p.Trp459Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553515] |
Chr5:1293509 [GRCh38]
Chr5:1293624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.612C>A (p.Asn204Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545512] |
Chr5:1294274 [GRCh38]
Chr5:1294389 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.282G>C (p.Lys94Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002555313] |
Chr5:1294604 [GRCh38]
Chr5:1294719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.907C>A (p.His303Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442882]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560521] |
Chr5:1293979 [GRCh38]
Chr5:1294094 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1570C>T (p.Pro524Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552334] |
Chr5:1293316 [GRCh38]
Chr5:1293431 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1606C>A (p.Leu536Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562125] |
Chr5:1282592 [GRCh38]
Chr5:1282707 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1210C>T (p.Pro404Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002547944] |
Chr5:1293676 [GRCh38]
Chr5:1293791 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1151A>G (p.Gln384Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002549065] |
Chr5:1293735 [GRCh38]
Chr5:1293850 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.913_914delinsTT (p.Ala305Leu) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002548875] |
Chr5:1293972..1293973 [GRCh38]
Chr5:1294087..1294088 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1900G>T (p.Val634Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002573514] |
Chr5:1280208 [GRCh38]
Chr5:1280323 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.115G>T (p.Val39Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352619]|Dyskeratosis congenita, autosomal dominant 2 [RCV002563368] |
Chr5:1294875 [GRCh38]
Chr5:1294990 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2437A>G (p.Met813Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002543494] |
Chr5:1271150 [GRCh38]
Chr5:1271265 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3062T>G (p.Phe1021Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002545868] |
Chr5:1255382 [GRCh38]
Chr5:1255497 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2746G>A (p.Gly916Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440934]|Dyskeratosis congenita, autosomal dominant 2 [RCV002548055] |
Chr5:1264501 [GRCh38]
Chr5:1264616 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1313C>A (p.Pro438His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552970] |
Chr5:1293573 [GRCh38]
Chr5:1293688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2461del (p.Arg821fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569145] |
Chr5:1271126 [GRCh38]
Chr5:1271241 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.142C>T (p.Arg48Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560707] |
Chr5:1294848 [GRCh38]
Chr5:1294963 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.653C>G (p.Ala218Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551035] |
Chr5:1294233 [GRCh38]
Chr5:1294348 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2291C>G (p.Ser764Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551110] |
Chr5:1272276 [GRCh38]
Chr5:1272391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3111T>A (p.Ser1037=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560555] |
Chr5:1255333 [GRCh38]
Chr5:1255448 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1024C>A (p.Arg342=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003101213] |
Chr5:1293862 [GRCh38]
Chr5:1293977 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.864G>A (p.Ala288=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002373000]|Dyskeratosis congenita, autosomal dominant 2 [RCV003081023] |
Chr5:1294022 [GRCh38]
Chr5:1294137 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2553C>T (p.Asn851=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002554378] |
Chr5:1268549 [GRCh38]
Chr5:1268664 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.861T>A (p.Gly287=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007059] |
Chr5:1294025 [GRCh38]
Chr5:1294140 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-8T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053402] |
Chr5:1266543 [GRCh38]
Chr5:1266658 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1821G>A (p.Arg607=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409555]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061731] |
Chr5:1280287 [GRCh38]
Chr5:1280402 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-14C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993453] |
Chr5:1264606 [GRCh38]
Chr5:1264721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-17C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061728] |
Chr5:1272297 [GRCh38]
Chr5:1272412 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.375C>T (p.Asn125=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346354]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553016]|Interstitial lung disease 2 [RCV002498141] |
Chr5:1294511 [GRCh38]
Chr5:1294626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+12C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003101210] |
Chr5:1294759 [GRCh38]
Chr5:1294874 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+16G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560752] |
Chr5:1258582 [GRCh38]
Chr5:1258697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025414] |
Chr5:1264605 [GRCh38]
Chr5:1264720 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.993C>T (p.Phe331=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560753] |
Chr5:1293893 [GRCh38]
Chr5:1294008 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1026G>C (p.Arg342=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053436] |
Chr5:1293860 [GRCh38]
Chr5:1293975 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070608] |
Chr5:1268502 [GRCh38]
Chr5:1268617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-9T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551253] |
Chr5:1254514 [GRCh38]
Chr5:1254629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1707A>G (p.Gln569=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107958] |
Chr5:1282491 [GRCh38]
Chr5:1282606 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-18T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553708] |
Chr5:1260618 [GRCh38]
Chr5:1260733 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-11C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007032] |
Chr5:1280349 [GRCh38]
Chr5:1280464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2382+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015360] |
Chr5:1272170 [GRCh38]
Chr5:1272285 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-14G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561575] |
Chr5:1279484 [GRCh38]
Chr5:1279599 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007012] |
Chr5:1278811 [GRCh38]
Chr5:1278926 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+19A>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025394] |
Chr5:1282410 [GRCh38]
Chr5:1282525 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1096C>T (p.Leu366=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551268] |
Chr5:1293790 [GRCh38]
Chr5:1293905 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.9C>T (p.Arg3=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382382]|Dyskeratosis congenita, autosomal dominant 2 [RCV003025496] |
Chr5:1294981 [GRCh38]
Chr5:1295096 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2382+10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553706] |
Chr5:1272175 [GRCh38]
Chr5:1272290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2814G>C (p.Arg938=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551307] |
Chr5:1264433 [GRCh38]
Chr5:1264548 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+18del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551336] |
Chr5:1264386 [GRCh38]
Chr5:1264501 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070582] |
Chr5:1254510 [GRCh38]
Chr5:1254625 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1635G>T (p.Leu545=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561586] |
Chr5:1282563 [GRCh38]
Chr5:1282678 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-3del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562256] |
Chr5:1254508 [GRCh38]
Chr5:1254623 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3372C>G (p.Pro1124=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454526]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061765] |
Chr5:1253755 [GRCh38]
Chr5:1253870 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.894C>T (p.Ser298=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443202]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061702] |
Chr5:1293992 [GRCh38]
Chr5:1294107 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1351C>T (p.Leu451=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382460]|Dyskeratosis congenita, autosomal dominant 2 [RCV003089031] |
Chr5:1293535 [GRCh38]
Chr5:1293650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-12C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002256898]|Dyskeratosis congenita, autosomal dominant 2 [RCV002551298] |
Chr5:1260612 [GRCh38]
Chr5:1260727 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.360C>T (p.Arg120=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553021] |
Chr5:1294526 [GRCh38]
Chr5:1294641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+15G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993440] |
Chr5:1266449 [GRCh38]
Chr5:1266564 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550525] |
Chr5:1279276 [GRCh38]
Chr5:1279391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+18G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033297] |
Chr5:1258580 [GRCh38]
Chr5:1258695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-8T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002550523] |
Chr5:1254513 [GRCh38]
Chr5:1254628 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.309G>A (p.Leu103=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325646]|Dyskeratosis congenita, autosomal dominant 2 [RCV003033309] |
Chr5:1294577 [GRCh38]
Chr5:1294692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2013G>T (p.Arg671=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423326]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561627] |
Chr5:1279408 [GRCh38]
Chr5:1279523 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+13del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551257] |
Chr5:1255274 [GRCh38]
Chr5:1255389 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2976C>T (p.Asn992=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434498]|Dyskeratosis congenita, autosomal dominant 2 [RCV003025396] |
Chr5:1258654 [GRCh38]
Chr5:1258769 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2955G>A (p.Leu985=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025495] |
Chr5:1260489 [GRCh38]
Chr5:1260604 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.147G>T (p.Ala49=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053442] |
Chr5:1294843 [GRCh38]
Chr5:1294958 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+8del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003006996] |
Chr5:1268512 [GRCh38]
Chr5:1268627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1479G>A (p.Lys493=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391338]|Dyskeratosis congenita, autosomal dominant 2 [RCV003081071] |
Chr5:1293407 [GRCh38]
Chr5:1293522 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2295C>T (p.Thr765=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561630] |
Chr5:1272272 [GRCh38]
Chr5:1272387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.60G>A (p.Glu20=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551260] |
Chr5:1294930 [GRCh38]
Chr5:1295045 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+11C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081046] |
Chr5:1264393 [GRCh38]
Chr5:1264508 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007020] |
Chr5:1294673 [GRCh38]
Chr5:1294788 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1551C>T (p.Cys517=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553018] |
Chr5:1293335 [GRCh38]
Chr5:1293450 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3135C>T (p.Ser1045=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325708]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101214] |
Chr5:1255309 [GRCh38]
Chr5:1255424 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+18G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007023] |
Chr5:1264386 [GRCh38]
Chr5:1264501 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.636C>T (p.Val212=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002361499]|Dyskeratosis congenita, autosomal dominant 2 [RCV003015249]|TERT-related condition [RCV003911349] |
Chr5:1294250 [GRCh38]
Chr5:1294365 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-14G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093816] |
Chr5:1271218 [GRCh38]
Chr5:1271333 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089004] |
Chr5:1253851 [GRCh38]
Chr5:1253966 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+7G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562289] |
Chr5:1255280 [GRCh38]
Chr5:1255395 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+15G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015365] |
Chr5:1266449 [GRCh38]
Chr5:1266564 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-11T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551292] |
Chr5:1254516 [GRCh38]
Chr5:1254631 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.216C>T (p.Arg72=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427577]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561643] |
Chr5:1294774 [GRCh38]
Chr5:1294889 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-18A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561570] |
Chr5:1282642 [GRCh38]
Chr5:1282757 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2589C>T (p.Leu863=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061795] |
Chr5:1266529 [GRCh38]
Chr5:1266644 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+20T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025462] |
Chr5:1258578 [GRCh38]
Chr5:1258693 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+7A>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081004] |
Chr5:1293306 [GRCh38]
Chr5:1293421 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+20C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552350] |
Chr5:1255267 [GRCh38]
Chr5:1255382 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007067] |
Chr5:1255272 [GRCh38]
Chr5:1255387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002982105] |
Chr5:1279272 [GRCh38]
Chr5:1279387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.222G>A (p.Val74=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427592]|Dyskeratosis congenita, autosomal dominant 2 [RCV003006973] |
Chr5:1294664 [GRCh38]
Chr5:1294779 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+19G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061775] |
Chr5:1258579 [GRCh38]
Chr5:1258694 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007088] |
Chr5:1272293 [GRCh38]
Chr5:1272408 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-14T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070668] |
Chr5:1268647 [GRCh38]
Chr5:1268762 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-12G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089050] |
Chr5:1254517 [GRCh38]
Chr5:1254632 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.639C>T (p.Pro213=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007120] |
Chr5:1294247 [GRCh38]
Chr5:1294362 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-6del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053405] |
Chr5:1279476 [GRCh38]
Chr5:1279591 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2397T>C (p.Asn799=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070616] |
Chr5:1271190 [GRCh38]
Chr5:1271305 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2904G>A (p.Arg968=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551339] |
Chr5:1260540 [GRCh38]
Chr5:1260655 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015237] |
Chr5:1282411 [GRCh38]
Chr5:1282526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1668G>A (p.Leu556=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562317] |
Chr5:1282530 [GRCh38]
Chr5:1282645 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1926C>G (p.Ala642=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409581]|Dyskeratosis congenita, autosomal dominant 2 [RCV003081037] |
Chr5:1280182 [GRCh38]
Chr5:1280297 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+19T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015333] |
Chr5:1271100 [GRCh38]
Chr5:1271215 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551250]|TERT-related condition [RCV003893096] |
Chr5:1271221 [GRCh38]
Chr5:1271336 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1509C>G (p.Leu503=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007134] |
Chr5:1293377 [GRCh38]
Chr5:1293492 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3045T>C (p.Cys1015=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443116]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560764] |
Chr5:1255399 [GRCh38]
Chr5:1255514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107946] |
Chr5:1282416 [GRCh38]
Chr5:1282531 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107944] |
Chr5:1255431 [GRCh38]
Chr5:1255546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2712G>A (p.Val904=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441274]|Dyskeratosis congenita, autosomal dominant 2 [RCV002560777] |
Chr5:1264535 [GRCh38]
Chr5:1264650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-17A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007004] |
Chr5:1266552 [GRCh38]
Chr5:1266667 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.111G>A (p.Arg37=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089092] |
Chr5:1294879 [GRCh38]
Chr5:1294994 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+14G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015322] |
Chr5:1294757 [GRCh38]
Chr5:1294872 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-20G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007005] |
Chr5:1282644 [GRCh38]
Chr5:1282759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1527G>A (p.Thr509=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391353]|Dyskeratosis congenita, autosomal dominant 2 [RCV003089026] |
Chr5:1293359 [GRCh38]
Chr5:1293474 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.783G>A (p.Arg261=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409554]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061730] |
Chr5:1294103 [GRCh38]
Chr5:1294218 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1263A>T (p.Pro421=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061740] |
Chr5:1293623 [GRCh38]
Chr5:1293738 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+20C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081013] |
Chr5:1293293 [GRCh38]
Chr5:1293408 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2943G>A (p.Lys981=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161432]|Dyskeratosis congenita, autosomal dominant 2 [RCV003006991] |
Chr5:1260501 [GRCh38]
Chr5:1260616 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015286] |
Chr5:1268643 [GRCh38]
Chr5:1268758 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993451] |
Chr5:1294753 [GRCh38]
Chr5:1294868 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002560771] |
Chr5:1294751 [GRCh38]
Chr5:1294866 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1023G>T (p.Leu341=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551293] |
Chr5:1293863 [GRCh38]
Chr5:1293978 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1950+15G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551273] |
Chr5:1280143 [GRCh38]
Chr5:1280258 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3033-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007011] |
Chr5:1255425 [GRCh38]
Chr5:1255540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-18T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561647] |
Chr5:1255429 [GRCh38]
Chr5:1255544 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2838C>T (p.Tyr946=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562308] |
Chr5:1264409 [GRCh38]
Chr5:1264524 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-15del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053416] |
Chr5:1271219 [GRCh38]
Chr5:1271334 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+18C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093814] |
Chr5:1282411 [GRCh38]
Chr5:1282526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+20_2654+21delinsAG |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV003088973] |
Chr5:1266443..1266444 [GRCh38]
Chr5:1266558..1266559 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3027G>C (p.Ala1009=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081041] |
Chr5:1258603 [GRCh38]
Chr5:1258718 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-12C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061770] |
Chr5:1260612 [GRCh38]
Chr5:1260727 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.408G>T (p.Ala136=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033345] |
Chr5:1294478 [GRCh38]
Chr5:1294593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-13G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562267] |
Chr5:1294679 [GRCh38]
Chr5:1294794 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.246C>G (p.Ala82=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993439] |
Chr5:1294640 [GRCh38]
Chr5:1294755 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3159G>C (p.Gly1053=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070627] |
Chr5:1254504 [GRCh38]
Chr5:1254619 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.336C>T (p.Pro112=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553034] |
Chr5:1294550 [GRCh38]
Chr5:1294665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2067C>T (p.Ala689=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093830] |
Chr5:1279354 [GRCh38]
Chr5:1279469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2970+16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007055] |
Chr5:1260458 [GRCh38]
Chr5:1260573 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1950+14G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007013] |
Chr5:1280144 [GRCh38]
Chr5:1280259 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1455C>G (p.Arg485=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053460] |
Chr5:1293431 [GRCh38]
Chr5:1293546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3381C>T (p.Phe1127=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061782] |
Chr5:1253746 [GRCh38]
Chr5:1253861 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+9A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070609] |
Chr5:1264395 [GRCh38]
Chr5:1264510 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561569] |
Chr5:1255423 [GRCh38]
Chr5:1255538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-14C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089049] |
Chr5:1260614 [GRCh38]
Chr5:1260729 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.117G>A (p.Val39=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551239] |
Chr5:1294873 [GRCh38]
Chr5:1294988 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2832C>T (p.Ser944=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434505]|Dyskeratosis congenita, autosomal dominant 2 [RCV003025421] |
Chr5:1264415 [GRCh38]
Chr5:1264530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.708G>A (p.Lys236=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002363658]|Dyskeratosis congenita, autosomal dominant 2 [RCV003070595] |
Chr5:1294178 [GRCh38]
Chr5:1294293 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1497G>A (p.Lys499=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081005] |
Chr5:1293389 [GRCh38]
Chr5:1293504 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+17G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551286] |
Chr5:1264387 [GRCh38]
Chr5:1264502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562254] |
Chr5:1258673 [GRCh38]
Chr5:1258788 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-12T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070571] |
Chr5:1268645 [GRCh38]
Chr5:1268760 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+16A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015281] |
Chr5:1271103 [GRCh38]
Chr5:1271218 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+16C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081009] |
Chr5:1264388 [GRCh38]
Chr5:1264503 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.552C>T (p.Ala184=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346411]|Dyskeratosis congenita, autosomal dominant 2 [RCV002993471] |
Chr5:1294334 [GRCh38]
Chr5:1294449 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3295+11G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015318] |
Chr5:1254357 [GRCh38]
Chr5:1254472 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+12G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081059] |
Chr5:1278629 [GRCh38]
Chr5:1278744 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993444] |
Chr5:1272299 [GRCh38]
Chr5:1272414 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.762G>A (p.Gly254=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089038] |
Chr5:1294124 [GRCh38]
Chr5:1294239 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.705C>A (p.Pro235=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002982112] |
Chr5:1294181 [GRCh38]
Chr5:1294296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+7C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089023] |
Chr5:1294764 [GRCh38]
Chr5:1294879 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+13del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007144] |
Chr5:1282416 [GRCh38]
Chr5:1282531 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.3237G>A (p.Leu1079=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562262] |
Chr5:1254426 [GRCh38]
Chr5:1254541 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2388C>G (p.Ser796=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454385]|Dyskeratosis congenita, autosomal dominant 2 [RCV002561599] |
Chr5:1271199 [GRCh38]
Chr5:1271314 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+16C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007121] |
Chr5:1279275 [GRCh38]
Chr5:1279390 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033332] |
Chr5:1266545 [GRCh38]
Chr5:1266660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+18C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033318] |
Chr5:1268502 [GRCh38]
Chr5:1268617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2518C>T (p.Leu840=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015345] |
Chr5:1268584 [GRCh38]
Chr5:1268699 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-14T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561638] |
Chr5:1272294 [GRCh38]
Chr5:1272409 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552997] |
Chr5:1268507 [GRCh38]
Chr5:1268622 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2754T>A (p.Ala918=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562299] |
Chr5:1264493 [GRCh38]
Chr5:1264608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2723C>T (p.Pro908Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002236397] |
Chr5:1264524 [GRCh38]
Chr5:1264639 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2412C>A (p.Gly804=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562321] |
Chr5:1271175 [GRCh38]
Chr5:1271290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+17G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562328] |
Chr5:1255270 [GRCh38]
Chr5:1255385 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3097C>T (p.Leu1033=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324553]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562976] |
Chr5:1255347 [GRCh38]
Chr5:1255462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1792C>T (p.Leu598=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407351]|Dyskeratosis congenita, autosomal dominant 2 [RCV002553029] |
Chr5:1280316 [GRCh38]
Chr5:1280431 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1311C>T (p.Ala437=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382351]|Dyskeratosis congenita, autosomal dominant 2 [RCV003104174] |
Chr5:1293575 [GRCh38]
Chr5:1293690 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007045] |
Chr5:1278810 [GRCh38]
Chr5:1278925 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1521G>A (p.Glu507=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053390] |
Chr5:1293365 [GRCh38]
Chr5:1293480 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-19_2131-17del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV003080999] |
Chr5:1278813..1278815 [GRCh38]
Chr5:1278928..1278930 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+18G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553005] |
Chr5:1293295 [GRCh38]
Chr5:1293410 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553707] |
Chr5:1280351 [GRCh38]
Chr5:1280466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1014G>A (p.Lys338=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002561617] |
Chr5:1293872 [GRCh38]
Chr5:1293987 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2041C>T (p.Leu681=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081098] |
Chr5:1279380 [GRCh38]
Chr5:1279495 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2481G>A (p.Gln827=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161562]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061722] |
Chr5:1268621 [GRCh38]
Chr5:1268736 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553009] |
Chr5:1255273 [GRCh38]
Chr5:1255388 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+13G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089010] |
Chr5:1271106 [GRCh38]
Chr5:1271221 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-17G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025382] |
Chr5:1280355 [GRCh38]
Chr5:1280470 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1758C>T (p.Ser586=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409564]|Dyskeratosis congenita, autosomal dominant 2 [RCV003061761] |
Chr5:1282440 [GRCh38]
Chr5:1282555 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-11G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093810] |
Chr5:1279481 [GRCh38]
Chr5:1279596 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2514C>T (p.Ser838=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427657]|Dyskeratosis congenita, autosomal dominant 2 [RCV003015374] |
Chr5:1268588 [GRCh38]
Chr5:1268703 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.537C>G (p.Gly179=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007100] |
Chr5:1294349 [GRCh38]
Chr5:1294464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+18G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562327] |
Chr5:1255269 [GRCh38]
Chr5:1255384 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2557C>T (p.Leu853=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007043] |
Chr5:1268545 [GRCh38]
Chr5:1268660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1149C>T (p.Pro383=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161419]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562322] |
Chr5:1293737 [GRCh38]
Chr5:1293852 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3288C>T (p.Leu1096=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161420]|Dyskeratosis congenita, autosomal dominant 2 [RCV002562323] |
Chr5:1254375 [GRCh38]
Chr5:1254490 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3295+13G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033330] |
Chr5:1254355 [GRCh38]
Chr5:1254470 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+103G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003447704] |
Chr5:1271016 [GRCh38]
Chr5:1271131 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.229C>T (p.Leu77=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454491]|Dyskeratosis congenita, autosomal dominant 2 [RCV003053393] |
Chr5:1294657 [GRCh38]
Chr5:1294772 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.396G>A (p.Arg132=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352916]|Dyskeratosis congenita, autosomal dominant 2 [RCV003070653] |
Chr5:1294490 [GRCh38]
Chr5:1294605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-51_2971-16del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081026] |
Chr5:1258675..1258710 [GRCh38]
Chr5:1258790..1258825 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.522G>C (p.Pro174=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346398]|Dyskeratosis congenita, autosomal dominant 2 [RCV002993460] |
Chr5:1294364 [GRCh38]
Chr5:1294479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1981C>T (p.Leu661=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093792] |
Chr5:1279440 [GRCh38]
Chr5:1279555 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-18C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015368] |
Chr5:1279488 [GRCh38]
Chr5:1279603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1836C>T (p.Ala612=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093799] |
Chr5:1280272 [GRCh38]
Chr5:1280387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-20del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025424] |
Chr5:1279490 [GRCh38]
Chr5:1279605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1819A>C (p.Arg607=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093806] |
Chr5:1280289 [GRCh38]
Chr5:1280404 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.567C>T (p.His189=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346426]|Dyskeratosis congenita, autosomal dominant 2 [RCV003015268]|not provided [RCV003438942] |
Chr5:1294319 [GRCh38]
Chr5:1294434 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.75C>A (p.Ala25=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070659] |
Chr5:1294915 [GRCh38]
Chr5:1295030 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+20del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007036] |
Chr5:1268500 [GRCh38]
Chr5:1268615 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2193C>T (p.Ser731=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033324] |
Chr5:1278734 [GRCh38]
Chr5:1278849 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.39G>T (p.Leu13=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352868]|Dyskeratosis congenita, autosomal dominant 2 [RCV003025481] |
Chr5:1294951 [GRCh38]
Chr5:1295066 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.36C>T (p.Ser12=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007042] |
Chr5:1294954 [GRCh38]
Chr5:1295069 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.10:g.1297372_1297373delinsAT |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081049] |
Chr5:1297372..1297373 [GRCh38]
Chr5:1297487..1297488 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061804] |
Chr5:1264611 [GRCh38]
Chr5:1264726 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089034] |
Chr5:1266451 [GRCh38]
Chr5:1266566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1209C>T (p.Cys403=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007119] |
Chr5:1293677 [GRCh38]
Chr5:1293792 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015305] |
Chr5:1272290 [GRCh38]
Chr5:1272405 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.912C>T (p.His304=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161568]|Dyskeratosis congenita, autosomal dominant 2 [RCV003053418] |
Chr5:1293974 [GRCh38]
Chr5:1294089 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089059] |
Chr5:1264601 [GRCh38]
Chr5:1264716 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1342C>T (p.Leu448=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089055] |
Chr5:1293544 [GRCh38]
Chr5:1293659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+8T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061718] |
Chr5:1278633 [GRCh38]
Chr5:1278748 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2007G>A (p.Arg669=) |
single nucleotide variant |
Acute myeloid leukemia [RCV003224621]|Dyskeratosis congenita [RCV002416526]|Dyskeratosis congenita, autosomal dominant 2 [RCV003089066] |
Chr5:1279414 [GRCh38]
Chr5:1279529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-15T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061755] |
Chr5:1258674 [GRCh38]
Chr5:1258789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015290] |
Chr5:1294755 [GRCh38]
Chr5:1294870 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552993] |
Chr5:1266450 [GRCh38]
Chr5:1266565 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.225C>T (p.Ser75=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443260]|Dyskeratosis congenita, autosomal dominant 2 [RCV003081092] |
Chr5:1294661 [GRCh38]
Chr5:1294776 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-19A>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081015] |
Chr5:1254524 [GRCh38]
Chr5:1254639 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2640G>C (p.Ala880=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089095] |
Chr5:1266478 [GRCh38]
Chr5:1266593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007104] |
Chr5:1279273 [GRCh38]
Chr5:1279388 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070610] |
Chr5:1279488 [GRCh38]
Chr5:1279603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025461] |
Chr5:1278813 [GRCh38]
Chr5:1278928 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+9del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003081038] |
Chr5:1293304 [GRCh38]
Chr5:1293419 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-13G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552998] |
Chr5:1294679 [GRCh38]
Chr5:1294794 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+19_219+20insGAG |
insertion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002562273] |
Chr5:1294751..1294752 [GRCh38]
Chr5:1294866..1294867 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.225C>A (p.Ser75=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002552990] |
Chr5:1294661 [GRCh38]
Chr5:1294776 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-18A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003088976] |
Chr5:1264610 [GRCh38]
Chr5:1264725 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+17C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053389] |
Chr5:1293296 [GRCh38]
Chr5:1293411 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003107957] |
Chr5:1282414 [GRCh38]
Chr5:1282529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2751G>T (p.Thr917=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161659]|Dyskeratosis congenita, autosomal dominant 2 [RCV003081087] |
Chr5:1264496 [GRCh38]
Chr5:1264611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+7T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070657] |
Chr5:1278634 [GRCh38]
Chr5:1278749 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3168G>T (p.Leu1056=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003773768] |
Chr5:1254495 [GRCh38]
Chr5:1254610 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+11C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025418] |
Chr5:1278630 [GRCh38]
Chr5:1278745 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003025448] |
Chr5:1268513 [GRCh38]
Chr5:1268628 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-6T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003006976] |
Chr5:1280344 [GRCh38]
Chr5:1280459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-13G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002256916]|Dyskeratosis congenita, autosomal dominant 2 [RCV003015311] |
Chr5:1255424 [GRCh38]
Chr5:1255539 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1573+17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015263] |
Chr5:1293296 [GRCh38]
Chr5:1293411 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-15T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053411] |
Chr5:1279485 [GRCh38]
Chr5:1279600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2844-17T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089096] |
Chr5:1260617 [GRCh38]
Chr5:1260732 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2103C>T (p.Asp701=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061758] |
Chr5:1279318 [GRCh38]
Chr5:1279433 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.933G>A (p.Ser311=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372986]|Dyskeratosis congenita, autosomal dominant 2 [RCV003070594] |
Chr5:1293953 [GRCh38]
Chr5:1294068 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3018G>C (p.Leu1006=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002259171]|Dyskeratosis congenita [RCV002434594]|Dyskeratosis congenita, autosomal dominant 2 [RCV003093821]|TERT-related condition [RCV003916376] |
Chr5:1258612 [GRCh38]
Chr5:1258727 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2844-11dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061753] |
Chr5:1260610..1260611 [GRCh38]
Chr5:1260725..1260726 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.1284G>A (p.Arg428=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003007114] |
Chr5:1293602 [GRCh38]
Chr5:1293717 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002553692] |
Chr5:1278621 [GRCh38]
Chr5:1278736 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3099G>C (p.Leu1033=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003053451] |
Chr5:1255345 [GRCh38]
Chr5:1255460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3296-11T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003015253] |
Chr5:1253842 [GRCh38]
Chr5:1253957 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1425A>T (p.Pro475=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002551312] |
Chr5:1293461 [GRCh38]
Chr5:1293576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.924A>G (p.Pro308=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003118233] |
Chr5:1293962 [GRCh38]
Chr5:1294077 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3360C>T (p.Asn1120=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003115961] |
Chr5:1253767 [GRCh38]
Chr5:1253882 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2409T>C (p.Ser803=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003116973] |
Chr5:1271178 [GRCh38]
Chr5:1271293 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1072C>T (p.Arg358Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003112171] |
Chr5:1293814 [GRCh38]
Chr5:1293929 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_1266569)_(1297488_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113970] |
Chr5:1266569..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.9:g.(?_1282524)_(1297488_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113971] |
Chr5:1282524..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.9:g.(?_1282603)_(1283866_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113973] |
Chr5:1282603..1283866 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.9:g.(?_482643)_(1895829_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113974] |
Chr5:482643..1895829 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.9:g.(?_1201766)_(1443312_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113975] |
Chr5:1201766..1443312 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2673C>T (p.Val891=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003115606] |
Chr5:1264574 [GRCh38]
Chr5:1264689 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2243_2266dup (p.Val755_Arg756insGlnLysAlaAlaHisGlyHisVal) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003114038] |
Chr5:1278660..1278661 [GRCh38]
Chr5:1278775..1278776 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.956C>A (p.Thr319Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003121572] |
Chr5:1293930 [GRCh38]
Chr5:1294045 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3300G>C (p.Gln1100His) |
single nucleotide variant |
not provided [RCV003120490] |
Chr5:1253827 [GRCh38]
Chr5:1253942 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.247C>G (p.Arg83Gly) |
single nucleotide variant |
not provided [RCV003120499] |
Chr5:1294639 [GRCh38]
Chr5:1294754 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.195C>A (p.Pro65=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003119028] |
Chr5:1294795 [GRCh38]
Chr5:1294910 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1358G>A (p.Arg453His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003148459] |
Chr5:1293528 [GRCh38]
Chr5:1293643 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255837]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094202] |
Chr5:1293340 [GRCh38]
Chr5:1293455 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255838] |
Chr5:1278778 [GRCh38]
Chr5:1278893 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 |
copy number loss |
See cases [RCV002286352] |
Chr5:113576..8007018 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_198253.3(TERT):c.1562G>A (p.Arg521His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400419]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774979]|not provided [RCV002293115] |
Chr5:1293324 [GRCh38]
Chr5:1293439 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.250G>A (p.Val84Met) |
single nucleotide variant |
not provided [RCV002261760] |
Chr5:1294636 [GRCh38]
Chr5:1294751 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_198253.3(TERT):c.3002T>C (p.Ile1001Thr) |
single nucleotide variant |
not provided [RCV002269533] |
Chr5:1258628 [GRCh38]
Chr5:1258743 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2997C>T (p.Thr999=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435556] |
Chr5:1258633 [GRCh38]
Chr5:1258748 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.219+37A>C |
single nucleotide variant |
not specified [RCV002268764] |
Chr5:1294734 [GRCh38]
Chr5:1294849 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1622T>C (p.Leu541Pro) |
single nucleotide variant |
not provided [RCV002261759] |
Chr5:1282576 [GRCh38]
Chr5:1282691 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1157A>G (p.Tyr386Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002366228] |
Chr5:1293729 [GRCh38]
Chr5:1293844 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.203C>A (p.Ala68Asp) |
single nucleotide variant |
not specified [RCV002268766] |
Chr5:1294787 [GRCh38]
Chr5:1294902 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2834A>T (p.Asp945Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435153] |
Chr5:1264413 [GRCh38]
Chr5:1264528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2959C>G (p.Leu987Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434614]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002266550] |
Chr5:1260485 [GRCh38]
Chr5:1260600 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) |
copy number loss |
5p partial monosomy syndrome [RCV002280774] |
Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_198253.3(TERT):c.130C>T (p.Pro44Ser) |
single nucleotide variant |
not provided [RCV002261761] |
Chr5:1294860 [GRCh38]
Chr5:1294975 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.622A>C (p.Arg208=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002366551] |
Chr5:1294264 [GRCh38]
Chr5:1294379 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.624G>A (p.Arg208=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002366669] |
Chr5:1294262 [GRCh38]
Chr5:1294377 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1124C>G (p.Thr375Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435615] |
Chr5:1293762 [GRCh38]
Chr5:1293877 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-2027194)x1 |
copy number loss |
See cases [RCV002293403] |
Chr5:113576..2027194 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3009G>A (p.Lys1003=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435747] |
Chr5:1258621 [GRCh38]
Chr5:1258736 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3319C>G (p.Leu1107Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454745] |
Chr5:1253808 [GRCh38]
Chr5:1253923 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1956G>A (p.Glu652=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421626] |
Chr5:1279465 [GRCh38]
Chr5:1279580 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2046C>T (p.Gly682=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420000]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774611] |
Chr5:1279375 [GRCh38]
Chr5:1279490 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) |
copy number gain |
5p partial monosomy syndrome [RCV002280773] |
Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.3015C>G (p.Leu1005=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435812] |
Chr5:1258615 [GRCh38]
Chr5:1258730 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3013C>T (p.Leu1005Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097895] |
Chr5:1258617 [GRCh38]
Chr5:1258732 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.555G>A (p.Arg185=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002351984]|Dyskeratosis congenita, autosomal dominant 2 [RCV003108038] |
Chr5:1294331 [GRCh38]
Chr5:1294446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2181G>T (p.Glu727Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003101713] |
Chr5:1278746 [GRCh38]
Chr5:1278861 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+2T>C |
single nucleotide variant |
not provided [RCV002268765] |
Chr5:1294769 [GRCh38]
Chr5:1294884 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3297C>T (p.Ala1099=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454653] |
Chr5:1253830 [GRCh38]
Chr5:1253945 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2874C>T (p.Leu958=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002437710]|Dyskeratosis congenita, autosomal dominant 2 [RCV003102811] |
Chr5:1260570 [GRCh38]
Chr5:1260685 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2022C>A (p.Gly674=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002419609] |
Chr5:1279399 [GRCh38]
Chr5:1279514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2023C>G (p.Leu675Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002419633] |
Chr5:1279398 [GRCh38]
Chr5:1279513 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1332C>T (p.Asp444=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002387525]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094981] |
Chr5:1293554 [GRCh38]
Chr5:1293669 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3001A>T (p.Ile1001Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435672] |
Chr5:1258629 [GRCh38]
Chr5:1258744 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2024T>G (p.Leu675Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002419659] |
Chr5:1279397 [GRCh38]
Chr5:1279512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.111G>T (p.Arg37=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002438059]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775413] |
Chr5:1294879 [GRCh38]
Chr5:1294994 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.709A>C (p.Arg237=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002367312] |
Chr5:1294177 [GRCh38]
Chr5:1294292 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3027G>T (p.Ala1009=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435949] |
Chr5:1258603 [GRCh38]
Chr5:1258718 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2047C>T (p.Leu683=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002420019] |
Chr5:1279374 [GRCh38]
Chr5:1279489 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2027T>G (p.Leu676Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002419707] |
Chr5:1279394 [GRCh38]
Chr5:1279509 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1188G>C (p.Leu396=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002351263] |
Chr5:1293698 [GRCh38]
Chr5:1293813 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002385247]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094835] |
Chr5:1293928 [GRCh38]
Chr5:1294043 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3015C>T (p.Leu1005=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002435813]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775443] |
Chr5:1258615 [GRCh38]
Chr5:1258730 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2631C>T (p.Leu877=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002452933] |
Chr5:1266487 [GRCh38]
Chr5:1266602 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1314C>G (p.Pro438=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002385522]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103641] |
Chr5:1293572 [GRCh38]
Chr5:1293687 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2885G>T (p.Arg962Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002437842] |
Chr5:1260559 [GRCh38]
Chr5:1260674 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.552C>A (p.Ala184=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002351809] |
Chr5:1294334 [GRCh38]
Chr5:1294449 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.966C>T (p.Pro322=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002386972] |
Chr5:1293920 [GRCh38]
Chr5:1294035 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.371C>T (p.Pro124Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002349075]|Dyskeratosis congenita, autosomal dominant 2 [RCV003464456] |
Chr5:1294515 [GRCh38]
Chr5:1294630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1146G>A (p.Leu382=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454921] |
Chr5:1293740 [GRCh38]
Chr5:1293855 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2577G>A (p.Arg859=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002452809] |
Chr5:1268525 [GRCh38]
Chr5:1268640 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2026C>G (p.Leu676Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002419684]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098570] |
Chr5:1279395 [GRCh38]
Chr5:1279510 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002454626]|Dyskeratosis congenita, autosomal dominant 2 [RCV003097927] |
Chr5:1253754 [GRCh38]
Chr5:1253869 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2889C>T (p.Gly963=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002437877] |
Chr5:1260555 [GRCh38]
Chr5:1260670 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2092C>T (p.Arg698Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003778908]|not specified [RCV003151670] |
Chr5:1279329 [GRCh38]
Chr5:1279444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.537C>T (p.Gly179=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002347111]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776097] |
Chr5:1294349 [GRCh38]
Chr5:1294464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1860A>G (p.Arg620=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002414911] |
Chr5:1280248 [GRCh38]
Chr5:1280363 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.567C>G (p.His189Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002347405] |
Chr5:1294319 [GRCh38]
Chr5:1294434 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2131-2A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003101364]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002331859] |
Chr5:1278798 [GRCh38]
Chr5:1278913 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.432G>T (p.Val144=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002332113] |
Chr5:1294454 [GRCh38]
Chr5:1294569 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:1097653-1260917)x3 |
copy number gain |
not provided [RCV002474664] |
Chr5:1097653..1260917 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 |
copy number loss |
not provided [RCV002473919] |
Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.1923A>G (p.Gly641=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410753] |
Chr5:1280185 [GRCh38]
Chr5:1280300 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2009C>G (p.Ala670Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003102249] |
Chr5:1279412 [GRCh38]
Chr5:1279527 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.192G>T (p.Pro64=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410892] |
Chr5:1294798 [GRCh38]
Chr5:1294913 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2019C>A (p.Pro673=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417434] |
Chr5:1279402 [GRCh38]
Chr5:1279517 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2019C>G (p.Pro673=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417436]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101011] |
Chr5:1279402 [GRCh38]
Chr5:1279517 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:676464-1274326)x3 |
copy number gain |
not provided [RCV002474837] |
Chr5:676464..1274326 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2112T>C (p.Pro704=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417513]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775102] |
Chr5:1279309 [GRCh38]
Chr5:1279424 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2158A>G (p.Ile720Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417879]|Dyskeratosis congenita, autosomal dominant 2 [RCV003464549] |
Chr5:1278769 [GRCh38]
Chr5:1278884 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1005A>G (p.Ser335=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002412623] |
Chr5:1293881 [GRCh38]
Chr5:1293996 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2160C>T (p.Ile720=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417898]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098676] |
Chr5:1278767 [GRCh38]
Chr5:1278882 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.564A>T (p.Pro188=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002345161] |
Chr5:1294322 [GRCh38]
Chr5:1294437 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:1256058-1411832)x3 |
copy number gain |
not provided [RCV002473618] |
Chr5:1256058..1411832 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1857C>T (p.Ser619=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413116] |
Chr5:1280251 [GRCh38]
Chr5:1280366 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.531G>A (p.Gln177=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346781] |
Chr5:1294355 [GRCh38]
Chr5:1294470 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2985G>A (p.Gln995=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442248] |
Chr5:1258645 [GRCh38]
Chr5:1258760 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2016C>G (p.Arg672=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417409] |
Chr5:1279405 [GRCh38]
Chr5:1279520 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2568G>T (p.Gly856=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002425973]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101979] |
Chr5:1268534 [GRCh38]
Chr5:1268649 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.3204G>T (p.Glu1068Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097997] |
Chr5:1254459 [GRCh38]
Chr5:1254574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1080C>T (p.Leu360=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417736] |
Chr5:1293806 [GRCh38]
Chr5:1293921 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1512G>T (p.Ser504=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002392251] |
Chr5:1293374 [GRCh38]
Chr5:1293489 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.950G>C (p.Trp317Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374182] |
Chr5:1293936 [GRCh38]
Chr5:1294051 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3138C>A (p.Ile1046=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320660]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099229] |
Chr5:1255306 [GRCh38]
Chr5:1255421 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.879C>G (p.Arg293=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449777] |
Chr5:1294007 [GRCh38]
Chr5:1294122 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.46A>G (p.Ser16Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002335296] |
Chr5:1294944 [GRCh38]
Chr5:1295059 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1044C>T (p.Ser348=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002403343]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774380] |
Chr5:1293842 [GRCh38]
Chr5:1293957 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.207C>A (p.Pro69=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422271] |
Chr5:1294783 [GRCh38]
Chr5:1294898 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2541C>A (p.Gly847=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002455782] |
Chr5:1268561 [GRCh38]
Chr5:1268676 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.369G>A (p.Leu123=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353006]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775709] |
Chr5:1294517 [GRCh38]
Chr5:1294632 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1389C>A (p.Gly463=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396604] |
Chr5:1293497 [GRCh38]
Chr5:1293612 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.947C>A (p.Pro316His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443512] |
Chr5:1293939 [GRCh38]
Chr5:1294054 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2551A>G (p.Asn851Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002433307] |
Chr5:1268551 [GRCh38]
Chr5:1268666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1020G>A (p.Gln340=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393777] |
Chr5:1293866 [GRCh38]
Chr5:1293981 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1072C>G (p.Arg358Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097940] |
Chr5:1293814 [GRCh38]
Chr5:1293929 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3057C>T (p.Leu1019=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002444162] |
Chr5:1255387 [GRCh38]
Chr5:1255502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.726T>G (p.Ala242=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382590] |
Chr5:1294160 [GRCh38]
Chr5:1294275 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1259C>A (p.Thr420Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427994] |
Chr5:1293627 [GRCh38]
Chr5:1293742 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.859G>T (p.Gly287Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447964] |
Chr5:1294027 [GRCh38]
Chr5:1294142 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1284G>C (p.Arg428=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382932]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094906] |
Chr5:1293602 [GRCh38]
Chr5:1293717 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.833C>G (p.Pro278Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434661] |
Chr5:1294053 [GRCh38]
Chr5:1294168 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1405C>A (p.Leu469Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097928] |
Chr5:1293481 [GRCh38]
Chr5:1293596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1303G>T (p.Val435Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097939] |
Chr5:1293583 [GRCh38]
Chr5:1293698 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2721C>T (p.Phe907=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431297] |
Chr5:1264526 [GRCh38]
Chr5:1264641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.99C>A (p.Pro33=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383094] |
Chr5:1294891 [GRCh38]
Chr5:1295006 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2796C>T (p.Gly932=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441467] |
Chr5:1264451 [GRCh38]
Chr5:1264566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.384C>T (p.Thr128=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002355476]|Dyskeratosis congenita, autosomal dominant 2 [RCV003102457] |
Chr5:1294502 [GRCh38]
Chr5:1294617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2346G>T (p.Glu782Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448334]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101747] |
Chr5:1272221 [GRCh38]
Chr5:1272336 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.2882A>C (p.Asn961Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097946] |
Chr5:1260562 [GRCh38]
Chr5:1260677 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1795C>A (p.Arg599=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407794] |
Chr5:1280313 [GRCh38]
Chr5:1280428 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.791G>C (p.Gly264Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002416728] |
Chr5:1294095 [GRCh38]
Chr5:1294210 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1124C>T (p.Thr375Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097972] |
Chr5:1293762 [GRCh38]
Chr5:1293877 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3207C>G (p.Ala1069=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002323020]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099291] |
Chr5:1254456 [GRCh38]
Chr5:1254571 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1186C>T (p.Leu396=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002340261]|Dyskeratosis congenita, autosomal dominant 2 [RCV003096493] |
Chr5:1293700 [GRCh38]
Chr5:1293815 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2965T>C (p.Leu989=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442028] |
Chr5:1260479 [GRCh38]
Chr5:1260594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326446]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775590] |
Chr5:1253799 [GRCh38]
Chr5:1253914 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1898T>G (p.Ile633Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002408163] |
Chr5:1280210 [GRCh38]
Chr5:1280325 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.607T>A (p.Trp203Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003098009] |
Chr5:1294279 [GRCh38]
Chr5:1294394 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2002G>C (p.Glu668Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002417207] |
Chr5:1279419 [GRCh38]
Chr5:1279534 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1514T>G (p.Leu505Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097935] |
Chr5:1293372 [GRCh38]
Chr5:1293487 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1644G>A (p.Leu548=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002394953]|Dyskeratosis congenita, autosomal dominant 2 [RCV003097051] |
Chr5:1282554 [GRCh38]
Chr5:1282669 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3273A>C (p.Pro1091=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325012]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099351] |
Chr5:1254390 [GRCh38]
Chr5:1254505 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1409G>A (p.Arg470His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002389447]|Dyskeratosis congenita, autosomal dominant 2 [RCV003108072]|TERT-related condition [RCV003395469] |
Chr5:1293477 [GRCh38]
Chr5:1293592 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_198253.3(TERT):c.1109C>G (p.Pro370Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003102260] |
Chr5:1293777 [GRCh38]
Chr5:1293892 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3264C>T (p.Thr1088=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445670] |
Chr5:1254399 [GRCh38]
Chr5:1254514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1601A>C (p.His534Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002398701] |
Chr5:1282597 [GRCh38]
Chr5:1282712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1180C>T (p.Leu394=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002335047] |
Chr5:1293706 [GRCh38]
Chr5:1293821 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.39G>C (p.Leu13=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002375638] |
Chr5:1294951 [GRCh38]
Chr5:1295066 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1688T>C (p.Val563Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097989] |
Chr5:1282510 [GRCh38]
Chr5:1282625 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1118C>G (p.Pro373Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097982] |
Chr5:1293768 [GRCh38]
Chr5:1293883 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.616A>T (p.Ser206Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353694] |
Chr5:1294270 [GRCh38]
Chr5:1294385 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2979C>T (p.Ser993=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002442175] |
Chr5:1258651 [GRCh38]
Chr5:1258766 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1035C>T (p.Phe345=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391907] |
Chr5:1293851 [GRCh38]
Chr5:1293966 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.817G>A (p.Val273Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV002427807]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103480] |
Chr5:1294069 [GRCh38]
Chr5:1294184 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2490G>C (p.Gly830=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002430936] |
Chr5:1268612 [GRCh38]
Chr5:1268727 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1029C>T (p.Pro343=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002387769] |
Chr5:1293857 [GRCh38]
Chr5:1293972 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2086C>A (p.Arg696Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423952] |
Chr5:1279335 [GRCh38]
Chr5:1279450 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2394G>C (p.Leu798=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002459599] |
Chr5:1271193 [GRCh38]
Chr5:1271308 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2592G>A (p.Leu864=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426156] |
Chr5:1266526 [GRCh38]
Chr5:1266641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1444C>A (p.His482Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002394424] |
Chr5:1293442 [GRCh38]
Chr5:1293557 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3171G>A (p.Gly1057=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322639] |
Chr5:1254492 [GRCh38]
Chr5:1254607 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3172G>A (p.Ala1058Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322654]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099262] |
Chr5:1254491 [GRCh38]
Chr5:1254606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1128C>T (p.Pro376=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002325744]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775032] |
Chr5:1293758 [GRCh38]
Chr5:1293873 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.996C>T (p.Leu332=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382982] |
Chr5:1293890 [GRCh38]
Chr5:1294005 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.835G>C (p.Ala279Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002434743] |
Chr5:1294051 [GRCh38]
Chr5:1294166 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1506G>A (p.Lys502=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390012]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774358] |
Chr5:1293380 [GRCh38]
Chr5:1293495 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2408G>A (p.Ser803Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002459705]|TERT-related condition [RCV003403829] |
Chr5:1271179 [GRCh38]
Chr5:1271294 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.650C>G (p.Pro217Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364169] |
Chr5:1294236 [GRCh38]
Chr5:1294351 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2517G>C (p.Thr839=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002433010]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775283] |
Chr5:1268585 [GRCh38]
Chr5:1268700 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1482C>T (p.Phe494=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002397172] |
Chr5:1293404 [GRCh38]
Chr5:1293519 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1715G>A (p.Arg572Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002398959]|Dyskeratosis congenita, autosomal dominant 2 [RCV003100800] |
Chr5:1282483 [GRCh38]
Chr5:1282598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2613G>A (p.Leu871=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426350] |
Chr5:1266505 [GRCh38]
Chr5:1266620 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.177C>A (p.Pro59=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407677] |
Chr5:1294813 [GRCh38]
Chr5:1294928 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1186C>G (p.Leu396Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002330785] |
Chr5:1293700 [GRCh38]
Chr5:1293815 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1980A>G (p.Ala660=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423665] |
Chr5:1279441 [GRCh38]
Chr5:1279556 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1264G>C (p.Ala422Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447902] |
Chr5:1293622 [GRCh38]
Chr5:1293737 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2177C>A (p.Thr726Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432829] |
Chr5:1278750 [GRCh38]
Chr5:1278865 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3154G>T (p.Ala1052Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320857]|Dyskeratosis congenita, autosomal dominant 2 [RCV003471329] |
Chr5:1255290 [GRCh38]
Chr5:1255405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2626C>T (p.His876Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426438] |
Chr5:1266492 [GRCh38]
Chr5:1266607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-19del |
deletion |
Dyskeratosis congenita [RCV002320880] |
Chr5:1254524 [GRCh38]
Chr5:1254639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.516G>A (p.Gly172=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002338382]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776044] |
Chr5:1294370 [GRCh38]
Chr5:1294485 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.948C>A (p.Pro316=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374076]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094817] |
Chr5:1293938 [GRCh38]
Chr5:1294053 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2229G>A (p.Arg743=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428191] |
Chr5:1278698 [GRCh38]
Chr5:1278813 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2181G>A (p.Glu727=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432911] |
Chr5:1278746 [GRCh38]
Chr5:1278861 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.587G>C (p.Arg196Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353520] |
Chr5:1294299 [GRCh38]
Chr5:1294414 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2438T>C (p.Met813Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002459971]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775249] |
Chr5:1271149 [GRCh38]
Chr5:1271264 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3195G>A (p.Leu1065=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322899] |
Chr5:1254468 [GRCh38]
Chr5:1254583 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1387G>C (p.Gly463Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396574] |
Chr5:1293499 [GRCh38]
Chr5:1293614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.213C>T (p.Phe71=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002430515]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775114] |
Chr5:1294777 [GRCh38]
Chr5:1294892 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.777G>T (p.Pro259=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409816] |
Chr5:1294109 [GRCh38]
Chr5:1294224 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.650C>T (p.Pro217Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003102263] |
Chr5:1294236 [GRCh38]
Chr5:1294351 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2945G>C (p.Cys982Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002440215] |
Chr5:1260499 [GRCh38]
Chr5:1260614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1095T>C (p.Phe365=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002459571]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098844] |
Chr5:1293791 [GRCh38]
Chr5:1293906 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3165G>T (p.Ser1055=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322562] |
Chr5:1254498 [GRCh38]
Chr5:1254613 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2724T>C (p.Pro908=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431321] |
Chr5:1264523 [GRCh38]
Chr5:1264638 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1605T>A (p.Arg535=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400853] |
Chr5:1282593 [GRCh38]
Chr5:1282708 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1217G>T (p.Gly406Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353777] |
Chr5:1293669 [GRCh38]
Chr5:1293784 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.342C>T (p.Ala114=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002457015]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099477] |
Chr5:1294544 [GRCh38]
Chr5:1294659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2802G>A (p.Leu934=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441607] |
Chr5:1264445 [GRCh38]
Chr5:1264560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2250C>G (p.Ala750=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443526] |
Chr5:1278677 [GRCh38]
Chr5:1278792 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.342C>G (p.Ala114=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002337449] |
Chr5:1294544 [GRCh38]
Chr5:1294659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1137G>A (p.Leu379=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326337] |
Chr5:1293749 [GRCh38]
Chr5:1293864 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.735G>A (p.Glu245=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002380301] |
Chr5:1294151 [GRCh38]
Chr5:1294266 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1362G>C (p.Gln454His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097983] |
Chr5:1293524 [GRCh38]
Chr5:1293639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.893C>A (p.Ser298Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449878] |
Chr5:1293993 [GRCh38]
Chr5:1294108 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.99C>G (p.Pro33=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383098] |
Chr5:1294891 [GRCh38]
Chr5:1295006 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2386T>C (p.Ser796Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428543] |
Chr5:1271201 [GRCh38]
Chr5:1271316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.693T>C (p.Ser231=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002362430]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098425] |
Chr5:1294193 [GRCh38]
Chr5:1294308 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1987A>C (p.Ser663Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423754]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774589]|not provided [RCV003138260] |
Chr5:1279434 [GRCh38]
Chr5:1279549 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2670T>A (p.Gly890=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428806] |
Chr5:1264577 [GRCh38]
Chr5:1264692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.51C>T (p.His17=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002338610] |
Chr5:1294939 [GRCh38]
Chr5:1295054 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.678C>A (p.Gly226=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369389] |
Chr5:1294208 [GRCh38]
Chr5:1294323 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2057T>C (p.Ile686Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421901] |
Chr5:1279364 [GRCh38]
Chr5:1279479 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.318G>T (p.Gly106=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322856]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775068] |
Chr5:1294568 [GRCh38]
Chr5:1294683 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1387G>T (p.Gly463Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396578] |
Chr5:1293499 [GRCh38]
Chr5:1293614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2349C>T (p.Thr783=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448356]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775203] |
Chr5:1272218 [GRCh38]
Chr5:1272333 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.234G>A (p.Lys78=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448385] |
Chr5:1294652 [GRCh38]
Chr5:1294767 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2355G>T (p.Pro785=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448466]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101754] |
Chr5:1272212 [GRCh38]
Chr5:1272327 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.517C>T (p.Pro173Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002338437]|Dyskeratosis congenita, autosomal dominant 2 [RCV003096641] |
Chr5:1294369 [GRCh38]
Chr5:1294484 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.405G>A (p.Gly135=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002321386] |
Chr5:1294481 [GRCh38]
Chr5:1294596 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1282C>A (p.Arg428=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002376791] |
Chr5:1293604 [GRCh38]
Chr5:1293719 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1653G>T (p.Val551=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002403697] |
Chr5:1282545 [GRCh38]
Chr5:1282660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.134C>T (p.Ala45Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002387916]|Dyskeratosis congenita, autosomal dominant 2 [RCV003095013] |
Chr5:1294856 [GRCh38]
Chr5:1294971 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2781A>T (p.Leu927=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441304] |
Chr5:1264466 [GRCh38]
Chr5:1264581 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.237G>A (p.Glu79=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002457874] |
Chr5:1294649 [GRCh38]
Chr5:1294764 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2433C>T (p.Arg811=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002459906] |
Chr5:1271154 [GRCh38]
Chr5:1271269 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.262C>T (p.Leu88=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002426463] |
Chr5:1294624 [GRCh38]
Chr5:1294739 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2648T>G (p.Phe883Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428670] |
Chr5:1266470 [GRCh38]
Chr5:1266585 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3231A>G (p.Ala1077=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324744] |
Chr5:1254432 [GRCh38]
Chr5:1254547 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.329G>A (p.Gly110Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326201]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099378] |
Chr5:1294557 [GRCh38]
Chr5:1294672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2535C>T (p.Cys845=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002433200]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101940] |
Chr5:1268567 [GRCh38]
Chr5:1268682 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1416G>A (p.Leu472=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391705]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774317] |
Chr5:1293470 [GRCh38]
Chr5:1293585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.692G>A (p.Ser231Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097987] |
Chr5:1294194 [GRCh38]
Chr5:1294309 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1600C>T (p.His534Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002398688] |
Chr5:1282598 [GRCh38]
Chr5:1282713 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.6G>C (p.Pro2=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364786] |
Chr5:1294984 [GRCh38]
Chr5:1295099 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.423G>C (p.Leu141=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002328196] |
Chr5:1294463 [GRCh38]
Chr5:1294578 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2532G>A (p.Leu844=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002455729]|Dyskeratosis congenita, autosomal dominant 2 [RCV003101935] |
Chr5:1268570 [GRCh38]
Chr5:1268685 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1697C>A (p.Thr566Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002406242] |
Chr5:1282501 [GRCh38]
Chr5:1282616 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.378G>C (p.Thr126=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353070] |
Chr5:1294508 [GRCh38]
Chr5:1294623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.378G>T (p.Thr126=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353071] |
Chr5:1294508 [GRCh38]
Chr5:1294623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1154G>A (p.Arg385His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353084] |
Chr5:1293732 [GRCh38]
Chr5:1293847 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3282G>T (p.Gly1094=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445776] |
Chr5:1254381 [GRCh38]
Chr5:1254496 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1569C>T (p.Ser523=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002405597]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774389] |
Chr5:1293317 [GRCh38]
Chr5:1293432 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1188G>T (p.Leu396=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002340730] |
Chr5:1293698 [GRCh38]
Chr5:1293813 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.378G>A (p.Thr126=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353068] |
Chr5:1294508 [GRCh38]
Chr5:1294623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.395G>C (p.Arg132Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097897] |
Chr5:1294491 [GRCh38]
Chr5:1294606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1461C>T (p.Phe487=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396741]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774341] |
Chr5:1293425 [GRCh38]
Chr5:1293540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.640C>T (p.Leu214=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002361615] |
Chr5:1294246 [GRCh38]
Chr5:1294361 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1367G>C (p.Ser456Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383612] |
Chr5:1293519 [GRCh38]
Chr5:1293634 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1169G>C (p.Arg390Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002329786] |
Chr5:1293717 [GRCh38]
Chr5:1293832 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.753T>C (p.Val251=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002393944] |
Chr5:1294133 [GRCh38]
Chr5:1294248 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.840A>G (p.Glu280=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445852]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776500] |
Chr5:1294046 [GRCh38]
Chr5:1294161 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.849C>A (p.Thr283=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447679] |
Chr5:1294037 [GRCh38]
Chr5:1294152 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.882C>G (p.His294Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002373761] |
Chr5:1294004 [GRCh38]
Chr5:1294119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.64C>T (p.Leu22=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002356274] |
Chr5:1294926 [GRCh38]
Chr5:1295041 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1395G>A (p.Val465=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002389105] |
Chr5:1293491 [GRCh38]
Chr5:1293606 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.6G>T (p.Pro2=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364791] |
Chr5:1294984 [GRCh38]
Chr5:1295099 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1927A>C (p.Arg643=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410817] |
Chr5:1280181 [GRCh38]
Chr5:1280296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1652T>C (p.Val551Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002403683] |
Chr5:1282546 [GRCh38]
Chr5:1282661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.914C>T (p.Ala305Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002378793] |
Chr5:1293972 [GRCh38]
Chr5:1294087 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1815G>A (p.Glu605=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410254] |
Chr5:1280293 [GRCh38]
Chr5:1280408 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1410C>T (p.Arg470=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002389497] |
Chr5:1293476 [GRCh38]
Chr5:1293591 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1218G>A (p.Gly406=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002353891]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776231] |
Chr5:1293668 [GRCh38]
Chr5:1293783 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1487C>G (p.Ser496Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002389607] |
Chr5:1293399 [GRCh38]
Chr5:1293514 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1488C>T (p.Ser496=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002389632] |
Chr5:1293398 [GRCh38]
Chr5:1293513 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3065A>G (p.His1022Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002444263] |
Chr5:1255379 [GRCh38]
Chr5:1255494 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.849C>T (p.Thr283=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002447689]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776512] |
Chr5:1294037 [GRCh38]
Chr5:1294152 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.918C>G (p.Gly306=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002378911]|Dyskeratosis congenita, autosomal dominant 2 [RCV003100116] |
Chr5:1293968 [GRCh38]
Chr5:1294083 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1971G>C (p.Arg657Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423506] |
Chr5:1279450 [GRCh38]
Chr5:1279565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.247C>A (p.Arg83=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443940] |
Chr5:1294639 [GRCh38]
Chr5:1294754 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3263C>A (p.Thr1088Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324984] |
Chr5:1254400 [GRCh38]
Chr5:1254515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.915G>T (p.Ala305=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002378834] |
Chr5:1293971 [GRCh38]
Chr5:1294086 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.135G>A (p.Ala45=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383462]|Dyskeratosis congenita, autosomal dominant 2 [RCV003095028] |
Chr5:1294855 [GRCh38]
Chr5:1294970 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2426_2427del (p.Phe809fs) |
deletion |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002331860] |
Chr5:1271160..1271161 [GRCh38]
Chr5:1271275..1271276 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2583-2A>T |
single nucleotide variant |
Pulmonary fibrosis [RCV002509764]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002331861] |
Chr5:1266537 [GRCh38]
Chr5:1266652 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_198253.3(TERT):c.1992G>A (p.Val664=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423867] |
Chr5:1279429 [GRCh38]
Chr5:1279544 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.930A>G (p.Thr310=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002371558]|Dyskeratosis congenita, autosomal dominant 2 [RCV003100141]|not provided [RCV003439011] |
Chr5:1293956 [GRCh38]
Chr5:1294071 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.198C>G (p.Pro66=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423803] |
Chr5:1294792 [GRCh38]
Chr5:1294907 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.249A>C (p.Arg83=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431036] |
Chr5:1294637 [GRCh38]
Chr5:1294752 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.919C>T (p.Pro307Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002450048] |
Chr5:1293967 [GRCh38]
Chr5:1294082 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.836C>T (p.Ala279Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003102271] |
Chr5:1294050 [GRCh38]
Chr5:1294165 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2085G>C (p.Leu695=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002423948] |
Chr5:1279336 [GRCh38]
Chr5:1279451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2240T>C (p.Val747Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428370] |
Chr5:1278687 [GRCh38]
Chr5:1278802 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2502C>T (p.Gly834=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002431117] |
Chr5:1268600 [GRCh38]
Chr5:1268715 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.860G>C (p.Gly287Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448017] |
Chr5:1294026 [GRCh38]
Chr5:1294141 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.177C>G (p.Pro59=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002404048] |
Chr5:1294813 [GRCh38]
Chr5:1294928 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.438C>A (p.Asp146Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002333616] |
Chr5:1294448 [GRCh38]
Chr5:1294563 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.534C>A (p.Leu178=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002346937] |
Chr5:1294352 [GRCh38]
Chr5:1294467 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2340G>A (p.Leu780=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002457690]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775200] |
Chr5:1272227 [GRCh38]
Chr5:1272342 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1440C>T (p.Ser480=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002394356] |
Chr5:1293446 [GRCh38]
Chr5:1293561 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3166C>T (p.Leu1056=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322575] |
Chr5:1254497 [GRCh38]
Chr5:1254612 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2238G>A (p.Val746=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428327] |
Chr5:1278689 [GRCh38]
Chr5:1278804 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.542C>T (p.Ala181Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097950] |
Chr5:1294344 [GRCh38]
Chr5:1294459 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2646C>G (p.Thr882=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428657] |
Chr5:1266472 [GRCh38]
Chr5:1266587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1621C>T (p.Leu541=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002401074]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774416] |
Chr5:1282577 [GRCh38]
Chr5:1282692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3375A>G (p.Ser1125=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002451772] |
Chr5:1253752 [GRCh38]
Chr5:1253867 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1887G>T (p.Gly629=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002407954]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774545] |
Chr5:1280221 [GRCh38]
Chr5:1280336 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2794G>A (p.Gly932Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441456]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775375] |
Chr5:1264453 [GRCh38]
Chr5:1264568 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.279G>A (p.Ala93=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441515] |
Chr5:1294607 [GRCh38]
Chr5:1294722 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3111T>C (p.Ser1037=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326098] |
Chr5:1255333 [GRCh38]
Chr5:1255448 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2792G>A (p.Cys931Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441441] |
Chr5:1264455 [GRCh38]
Chr5:1264570 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1957C>A (p.Arg653Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003101712] |
Chr5:1279464 [GRCh38]
Chr5:1279579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1227C>G (p.Leu409=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364595] |
Chr5:1293659 [GRCh38]
Chr5:1293774 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326428]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099400]|not provided [RCV003099399] |
Chr5:1253801 [GRCh38]
Chr5:1253916 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.746C>A (p.Thr249Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391453] |
Chr5:1294140 [GRCh38]
Chr5:1294255 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3291G>A (p.Arg1097=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326161] |
Chr5:1254372 [GRCh38]
Chr5:1254487 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2805G>A (p.Leu935=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441635] |
Chr5:1264442 [GRCh38]
Chr5:1264557 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.318G>C (p.Gly106=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322854] |
Chr5:1294568 [GRCh38]
Chr5:1294683 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3196C>T (p.Pro1066Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002322906] |
Chr5:1254467 [GRCh38]
Chr5:1254582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3108C>A (p.Ile1036=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002326046] |
Chr5:1255336 [GRCh38]
Chr5:1255451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.472C>G (p.Leu158Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003098006] |
Chr5:1294414 [GRCh38]
Chr5:1294529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.827C>A (p.Ala276Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002412562]|Dyskeratosis congenita, autosomal dominant 2 [RCV003103488] |
Chr5:1294059 [GRCh38]
Chr5:1294174 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.834C>T (p.Pro278=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002412592]|Dyskeratosis congenita, autosomal dominant 2 [RCV003099918] |
Chr5:1294052 [GRCh38]
Chr5:1294167 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1414C>T (p.Leu472=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002391665] |
Chr5:1293472 [GRCh38]
Chr5:1293587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3075T>G (p.Val1025=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002319825] |
Chr5:1255369 [GRCh38]
Chr5:1255484 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2676T>C (p.Pro892=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002428850]|Dyskeratosis congenita, autosomal dominant 2 [RCV003102099] |
Chr5:1264571 [GRCh38]
Chr5:1264686 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3264C>A (p.Thr1088=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445669] |
Chr5:1254399 [GRCh38]
Chr5:1254514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1242G>T (p.Pro414=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002380496]|Dyskeratosis congenita, autosomal dominant 2 [RCV003776382]|TERT-related condition [RCV003896147] |
Chr5:1293644 [GRCh38]
Chr5:1293759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1902G>A (p.Val634=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002408287] |
Chr5:1280206 [GRCh38]
Chr5:1280321 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2958T>G (p.Phe986Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002441948] |
Chr5:1260486 [GRCh38]
Chr5:1260601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.738G>A (p.Pro246=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002380449]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098563] |
Chr5:1294148 [GRCh38]
Chr5:1294263 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.6G>A (p.Pro2=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364781] |
Chr5:1294984 [GRCh38]
Chr5:1295099 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.524T>C (p.Leu175Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002340947] |
Chr5:1294362 [GRCh38]
Chr5:1294477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.530A>G (p.Gln177Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002344633] |
Chr5:1294356 [GRCh38]
Chr5:1294471 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3282G>A (p.Gly1094=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002445774] |
Chr5:1254381 [GRCh38]
Chr5:1254496 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.159G>A (p.Gln53=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002398617]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774403] |
Chr5:1294831 [GRCh38]
Chr5:1294946 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1835C>T (p.Ala612Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002412719]|not provided [RCV003883825] |
Chr5:1280273 [GRCh38]
Chr5:1280388 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1941A>G (p.Arg647=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002413182]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774573] |
Chr5:1280167 [GRCh38]
Chr5:1280282 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.883T>C (p.Ser295Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002373806] |
Chr5:1294003 [GRCh38]
Chr5:1294118 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1065T>A (p.Thr355=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002415067]|Dyskeratosis congenita, autosomal dominant 2 [RCV003097314] |
Chr5:1293821 [GRCh38]
Chr5:1293936 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1426G>A (p.Gly476Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003164522]|Dyskeratosis congenita, autosomal dominant 2 [RCV003102274] |
Chr5:1293460 [GRCh38]
Chr5:1293575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.864G>C (p.Ala288=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002449642] |
Chr5:1294022 [GRCh38]
Chr5:1294137 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1781A>G (p.Lys594Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097996] |
Chr5:1280327 [GRCh38]
Chr5:1280442 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2050G>A (p.Asp684Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421820]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774615] |
Chr5:1279371 [GRCh38]
Chr5:1279486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.954C>T (p.Asp318=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374283] |
Chr5:1293932 [GRCh38]
Chr5:1294047 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1340G>T (p.Arg447Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002387708]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094999] |
Chr5:1293546 [GRCh38]
Chr5:1293661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2171G>C (p.Arg724Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002432746] |
Chr5:1278756 [GRCh38]
Chr5:1278871 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1176G>T (p.Leu392=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002328543] |
Chr5:1293710 [GRCh38]
Chr5:1293825 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1194G>T (p.Gly398=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002338291] |
Chr5:1293692 [GRCh38]
Chr5:1293807 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.314A>G (p.Asp105Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002320793] |
Chr5:1294572 [GRCh38]
Chr5:1294687 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2473T>C (p.Tyr825His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443280]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774839]|Pulmonary fibrosis [RCV002509801] |
Chr5:1268629 [GRCh38]
Chr5:1268744 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1231A>G (p.Thr411Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002369606]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098395] |
Chr5:1293655 [GRCh38]
Chr5:1293770 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2067C>G (p.Ala689=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422051]|Dyskeratosis congenita, autosomal dominant 2 [RCV003098591] |
Chr5:1279354 [GRCh38]
Chr5:1279469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1601A>G (p.His534Arg) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509765]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV002332944] |
Chr5:1282597 [GRCh38]
Chr5:1282712 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely risk allele |
| NM_198253.3(TERT):c.321C>G (p.Ala107=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324668] |
Chr5:1294565 [GRCh38]
Chr5:1294680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.321C>T (p.Ala107=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002324677] |
Chr5:1294565 [GRCh38]
Chr5:1294680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.654C>T (p.Ala218=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002364355] |
Chr5:1294232 [GRCh38]
Chr5:1294347 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1809A>G (p.Glu603=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410113]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774513] |
Chr5:1280299 [GRCh38]
Chr5:1280414 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.457C>T (p.Leu153=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002342193]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775921] |
Chr5:1294429 [GRCh38]
Chr5:1294544 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.413G>C (p.Gly138Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002333128]|Dyskeratosis congenita, autosomal dominant 2 [RCV003094539] |
Chr5:1294473 [GRCh38]
Chr5:1294588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.253C>T (p.Leu85=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002433220] |
Chr5:1294633 [GRCh38]
Chr5:1294748 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1062G>T (p.Leu354=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002410399]|Dyskeratosis congenita, autosomal dominant 2 [RCV003774517] |
Chr5:1293824 [GRCh38]
Chr5:1293939 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2253C>T (p.Ala751=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443583] |
Chr5:1278674 [GRCh38]
Chr5:1278789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.138T>G (p.Ala46=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396663] |
Chr5:1294852 [GRCh38]
Chr5:1294967 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.765C>T (p.Ser255=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396437] |
Chr5:1294121 [GRCh38]
Chr5:1294236 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.780C>G (p.Gly260=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002409942] |
Chr5:1294106 [GRCh38]
Chr5:1294221 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2271G>A (p.Lys757=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002443904] |
Chr5:1278656 [GRCh38]
Chr5:1278771 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2779C>T (p.Leu927=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002439693]|Dyskeratosis congenita, autosomal dominant 2 [RCV003775365] |
Chr5:1264468 [GRCh38]
Chr5:1264583 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.99C>T (p.Pro33=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002383108] |
Chr5:1294891 [GRCh38]
Chr5:1295006 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1573+17C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002903307] |
Chr5:1293296 [GRCh38]
Chr5:1293411 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1617G>C (p.Glu539Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003032478] |
Chr5:1282581 [GRCh38]
Chr5:1282696 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+19A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003073779] |
Chr5:1272166 [GRCh38]
Chr5:1272281 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2034C>T (p.Ala678=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002862018] |
Chr5:1279387 [GRCh38]
Chr5:1279502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2586G>A (p.Leu862=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002750145] |
Chr5:1266532 [GRCh38]
Chr5:1266647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-4456_1574-4455delinsAT |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002731402] |
Chr5:1287079..1287080 [GRCh38]
Chr5:1287194..1287195 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2738C>T (p.Ala913Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002838834] |
Chr5:1264509 [GRCh38]
Chr5:1264624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2490G>A (p.Gly830=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002994435] |
Chr5:1268612 [GRCh38]
Chr5:1268727 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2102A>G (p.Asp701Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002862169] |
Chr5:1279319 [GRCh38]
Chr5:1279434 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2468+16A>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002863502] |
Chr5:1271103 [GRCh38]
Chr5:1271218 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002815228] |
Chr5:1255282 [GRCh38]
Chr5:1255397 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1821G>C (p.Arg607Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002991697] |
Chr5:1280287 [GRCh38]
Chr5:1280402 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.602G>C (p.Arg201Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002615630] |
Chr5:1294284 [GRCh38]
Chr5:1294399 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-5C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002685887] |
Chr5:1254510 [GRCh38]
Chr5:1254625 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-13T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002995507] |
Chr5:1254518 [GRCh38]
Chr5:1254633 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-16A>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002862124] |
Chr5:1279486 [GRCh38]
Chr5:1279601 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2331G>T (p.Val777=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002862320] |
Chr5:1272236 [GRCh38]
Chr5:1272351 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-14C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002843030] |
Chr5:1258673 [GRCh38]
Chr5:1258788 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.786_787delinsAA (p.Arg263Ser) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002843876] |
Chr5:1294099..1294100 [GRCh38]
Chr5:1294214..1294215 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2137G>A (p.Val713Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033128] |
Chr5:1278790 [GRCh38]
Chr5:1278905 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2136T>C (p.Asp712=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002755970] |
Chr5:1278791 [GRCh38]
Chr5:1278906 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+15C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003076107] |
Chr5:1279276 [GRCh38]
Chr5:1279391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1321G>A (p.Glu441Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002750382] |
Chr5:1293565 [GRCh38]
Chr5:1293680 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.23G>A (p.Arg8Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002903729] |
Chr5:1294967 [GRCh38]
Chr5:1295082 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 |
copy number loss |
not provided [RCV002475573] |
Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 |
copy number loss |
not provided [RCV002475666] |
Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.303C>T (p.Phe101=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002843468] |
Chr5:1294583 [GRCh38]
Chr5:1294698 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.589C>T (p.Leu197=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002858069] |
Chr5:1294297 [GRCh38]
Chr5:1294412 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2589C>G (p.Leu863=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002838878] |
Chr5:1266529 [GRCh38]
Chr5:1266644 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1235A>G (p.His412Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003012021] |
Chr5:1293651 [GRCh38]
Chr5:1293766 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1254G>T (p.Ala418=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003032778] |
Chr5:1293632 [GRCh38]
Chr5:1293747 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1767C>A (p.Ile589=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002861447] |
Chr5:1282431 [GRCh38]
Chr5:1282546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-9T>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002861532] |
Chr5:1254514 [GRCh38]
Chr5:1254629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-11C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002995968] |
Chr5:1280349 [GRCh38]
Chr5:1280464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2095G>T (p.Ala699Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002838406] |
Chr5:1279326 [GRCh38]
Chr5:1279441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382G>T (p.Gln794His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002971061] |
Chr5:1272185 [GRCh38]
Chr5:1272300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+5G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002863751] |
Chr5:1254363 [GRCh38]
Chr5:1254478 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1569_1570delinsAA (p.Ser523_Pro524delinsArgThr) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV002838216] |
Chr5:1293316..1293317 [GRCh38]
Chr5:1293431..1293432 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1133G>A (p.Arg378Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003074426] |
Chr5:1293753 [GRCh38]
Chr5:1293868 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.220-5C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003034050] |
Chr5:1294671 [GRCh38]
Chr5:1294786 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-5T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003017378] |
Chr5:1258664 [GRCh38]
Chr5:1258779 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.508_531del (p.Val170_Gln177del) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003016374] |
Chr5:1294355..1294378 [GRCh38]
Chr5:1294470..1294493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2401G>T (p.Ala801Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003097578] |
Chr5:1271186 [GRCh38]
Chr5:1271301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-18C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002818971] |
Chr5:1272298 [GRCh38]
Chr5:1272413 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002947763] |
Chr5:1279274 [GRCh38]
Chr5:1279389 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2392C>T (p.Leu798=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002839578] |
Chr5:1271195 [GRCh38]
Chr5:1271310 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3276C>A (p.Leu1092=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002815911] |
Chr5:1254387 [GRCh38]
Chr5:1254502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+5G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002615869] |
Chr5:1266459 [GRCh38]
Chr5:1266574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1770-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002617855] |
Chr5:1280341 [GRCh38]
Chr5:1280456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2428C>G (p.Leu810Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002755710] |
Chr5:1271159 [GRCh38]
Chr5:1271274 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2468+20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002993622] |
Chr5:1271099 [GRCh38]
Chr5:1271214 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2058C>T (p.Ile686=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002843137] |
Chr5:1279363 [GRCh38]
Chr5:1279478 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3355G>A (p.Ala1119Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003034504] |
Chr5:1253772 [GRCh38]
Chr5:1253887 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2674C>T (p.Pro892Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002996057] |
Chr5:1264573 [GRCh38]
Chr5:1264688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+13G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003033675] |
Chr5:1264391 [GRCh38]
Chr5:1264506 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1179T>C (p.Phe393=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167908]|Dyskeratosis congenita, autosomal dominant 2 [RCV002908535] |
Chr5:1293707 [GRCh38]
Chr5:1293822 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3315G>C (p.Arg1105=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002843165] |
Chr5:1253812 [GRCh38]
Chr5:1253927 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2943del (p.Lys981fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002871229] |
Chr5:1260501 [GRCh38]
Chr5:1260616 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1260C>G (p.Thr420=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002786069] |
Chr5:1293626 [GRCh38]
Chr5:1293741 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.761G>A (p.Gly254Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002953613] |
Chr5:1294125 [GRCh38]
Chr5:1294240 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1951-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002824438] |
Chr5:1279473 [GRCh38]
Chr5:1279588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3073del (p.Val1025fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002953619] |
Chr5:1255371 [GRCh38]
Chr5:1255486 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3072A>T (p.Gln1024His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002953621] |
Chr5:1255372 [GRCh38]
Chr5:1255487 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3032+1G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002622217] |
Chr5:1258597 [GRCh38]
Chr5:1258712 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3018G>T (p.Leu1006=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002786039] |
Chr5:1258612 [GRCh38]
Chr5:1258727 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.505C>T (p.Gln169Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002823989] |
Chr5:1294381 [GRCh38]
Chr5:1294496 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.534C>G (p.Leu178=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002889723] |
Chr5:1294352 [GRCh38]
Chr5:1294467 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003039558] |
Chr5:1293966 [GRCh38]
Chr5:1294081 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2223G>A (p.Val741=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003080759] |
Chr5:1278704 [GRCh38]
Chr5:1278819 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3306G>A (p.Gln1102=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002800438] |
Chr5:1253821 [GRCh38]
Chr5:1253936 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2521C>T (p.Leu841Phe) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509800] |
Chr5:1268581 [GRCh38]
Chr5:1268696 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.892T>C (p.Ser298Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002593355] |
Chr5:1293994 [GRCh38]
Chr5:1294109 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2402C>A (p.Ala801Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003039555] |
Chr5:1271185 [GRCh38]
Chr5:1271300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.727G>A (p.Ala243Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002662370] |
Chr5:1294159 [GRCh38]
Chr5:1294274 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2205C>T (p.Pro735=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002570967] |
Chr5:1278722 [GRCh38]
Chr5:1278837 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2194A>G (p.Ile732Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003077402] |
Chr5:1278733 [GRCh38]
Chr5:1278848 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.446T>A (p.Leu149Gln) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509808] |
Chr5:1294440 [GRCh38]
Chr5:1294555 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.377C>A (p.Thr126Lys) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509809] |
Chr5:1294509 [GRCh38]
Chr5:1294624 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.293C>A (p.Ala98Asp) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509810] |
Chr5:1294593 [GRCh38]
Chr5:1294708 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.440A>G (p.Asp147Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002796560] |
Chr5:1294446 [GRCh38]
Chr5:1294561 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2869A>C (p.Ser957Arg) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509796] |
Chr5:1260575 [GRCh38]
Chr5:1260690 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.228C>A (p.Cys76Ter) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509811] |
Chr5:1294658 [GRCh38]
Chr5:1294773 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.2970+13_2970+15del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002999680] |
Chr5:1260459..1260461 [GRCh38]
Chr5:1260574..1260576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.713C>T (p.Pro238Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002760245] |
Chr5:1294173 [GRCh38]
Chr5:1294288 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.742C>T (p.Arg248Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002866614] |
Chr5:1294144 [GRCh38]
Chr5:1294259 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-13T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002866389] |
Chr5:1254518 [GRCh38]
Chr5:1254633 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.333C>A (p.Pro111=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003035567] |
Chr5:1294553 [GRCh38]
Chr5:1294668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1576G>A (p.Val526Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003018758] |
Chr5:1282622 [GRCh38]
Chr5:1282737 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2160C>G (p.Ile720Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002796140] |
Chr5:1278767 [GRCh38]
Chr5:1278882 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.78G>C (p.Thr26=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002659032] |
Chr5:1294912 [GRCh38]
Chr5:1295027 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1650T>A (p.Ser550Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002998951] |
Chr5:1282548 [GRCh38]
Chr5:1282663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+15G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002705381] |
Chr5:1294756 [GRCh38]
Chr5:1294871 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1506G>C (p.Lys502Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003019397] |
Chr5:1293380 [GRCh38]
Chr5:1293495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3202G>A (p.Glu1068Lys) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509794] |
Chr5:1254461 [GRCh38]
Chr5:1254576 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.2398G>A (p.Glu800Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003774840]|Pulmonary fibrosis [RCV002509803]|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 [RCV003456282] |
Chr5:1271189 [GRCh38]
Chr5:1271304 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.1710G>T (p.Lys570Asn) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509806] |
Chr5:1282488 [GRCh38]
Chr5:1282603 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.160T>A (p.Cys54Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002976221] |
Chr5:1294830 [GRCh38]
Chr5:1294945 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2906A>G (p.Asn969Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003077309] |
Chr5:1260538 [GRCh38]
Chr5:1260653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1383G>A (p.Val461=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003035448] |
Chr5:1293503 [GRCh38]
Chr5:1293618 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.278C>G (p.Ala93Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002620161] |
Chr5:1294608 [GRCh38]
Chr5:1294723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2970+14T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002796841] |
Chr5:1260460 [GRCh38]
Chr5:1260575 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-5C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002797083] |
Chr5:1294671 [GRCh38]
Chr5:1294786 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.774C>G (p.His258Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002761285] |
Chr5:1294112 [GRCh38]
Chr5:1294227 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.348C>A (p.Thr116=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002886015] |
Chr5:1294538 [GRCh38]
Chr5:1294653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-19C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002889172] |
Chr5:1255430 [GRCh38]
Chr5:1255545 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1846C>A (p.Leu616Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002637820] |
Chr5:1280262 [GRCh38]
Chr5:1280377 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-3dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003054347] |
Chr5:1254507..1254508 [GRCh38]
Chr5:1254622..1254623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.757C>T (p.Gln253Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002999504] |
Chr5:1294129 [GRCh38]
Chr5:1294244 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2468+10G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002569573] |
Chr5:1271109 [GRCh38]
Chr5:1271224 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1122G>T (p.Gly374=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003019801] |
Chr5:1293764 [GRCh38]
Chr5:1293879 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1663G>A (p.Glu555Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170573]|Dyskeratosis congenita, autosomal dominant 2 [RCV002927510]|TERT-related condition [RCV003943573] |
Chr5:1282535 [GRCh38]
Chr5:1282650 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3032+17G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002885310] |
Chr5:1258581 [GRCh38]
Chr5:1258696 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3268_3274del (p.Val1090fs) |
deletion |
Pulmonary fibrosis [RCV002509778] |
Chr5:1254389..1254395 [GRCh38]
Chr5:1254504..1254510 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.2647T>A (p.Phe883Ile) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509797] |
Chr5:1266471 [GRCh38]
Chr5:1266586 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.2621C>G (p.Thr874Arg) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509798] |
Chr5:1266497 [GRCh38]
Chr5:1266612 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.940C>T (p.Pro314Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002638431] |
Chr5:1293946 [GRCh38]
Chr5:1294061 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.220-12C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002976605] |
Chr5:1294678 [GRCh38]
Chr5:1294793 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002867997] |
Chr5:1255430 [GRCh38]
Chr5:1255545 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2777G>C (p.Gly926Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003054000] |
Chr5:1264470 [GRCh38]
Chr5:1264585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.182A>G (p.Asp61Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002912931] |
Chr5:1294808 [GRCh38]
Chr5:1294923 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2833G>A (p.Asp945Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002636518] |
Chr5:1264414 [GRCh38]
Chr5:1264529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.735G>T (p.Glu245Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002975976] |
Chr5:1294151 [GRCh38]
Chr5:1294266 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV003475318]|Pulmonary fibrosis [RCV002509802] |
Chr5:1271154..1271156 [GRCh38]
Chr5:1271269..1271271 [GRCh37]
Chr5:5p15.33 |
likely risk allele|uncertain significance |
| NM_198253.3(TERT):c.3295+1G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002796769] |
Chr5:1254367 [GRCh38]
Chr5:1254482 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-11C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003019399] |
Chr5:1264603 [GRCh38]
Chr5:1264718 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1424C>T (p.Pro475Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003019642] |
Chr5:1293462 [GRCh38]
Chr5:1293577 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2033C>A (p.Ala678Asp) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509805] |
Chr5:1279388 [GRCh38]
Chr5:1279503 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.1397G>C (p.Arg466Pro) |
single nucleotide variant |
Pulmonary fibrosis [RCV002509807] |
Chr5:1293489 [GRCh38]
Chr5:1293604 [GRCh37]
Chr5:5p15.33 |
likely risk allele |
| NM_198253.3(TERT):c.3157+14C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003054298] |
Chr5:1255273 [GRCh38]
Chr5:1255388 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2141C>A (p.Thr714Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002740037] |
Chr5:1278786 [GRCh38]
Chr5:1278901 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.964C>T (p.Pro322Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002909593] |
Chr5:1293922 [GRCh38]
Chr5:1294037 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2113G>A (p.Glu705Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003080428] |
Chr5:1279308 [GRCh38]
Chr5:1279423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1369A>G (p.Ser457Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167665]|Dyskeratosis congenita, autosomal dominant 2 [RCV002691172] |
Chr5:1293517 [GRCh38]
Chr5:1293632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-16_2383-15inv |
inversion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003035308] |
Chr5:1271219..1271220 [GRCh38]
Chr5:1271334..1271335 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.877C>T (p.Arg293Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002998952] |
Chr5:1294009 [GRCh38]
Chr5:1294124 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1168C>A (p.Arg390=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002867750] |
Chr5:1293718 [GRCh38]
Chr5:1293833 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3307C>G (p.Leu1103Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003084016] |
Chr5:1253820 [GRCh38]
Chr5:1253935 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2450C>G (p.Ala817Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002745853] |
Chr5:1271137 [GRCh38]
Chr5:1271252 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2284C>T (p.His762Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003023410] |
Chr5:1278643 [GRCh38]
Chr5:1278758 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1604G>C (p.Arg535Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003059673] |
Chr5:1282594 [GRCh38]
Chr5:1282709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+20C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003008237] |
Chr5:1293293 [GRCh38]
Chr5:1293408 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1853C>G (p.Thr618Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002624668] |
Chr5:1280255 [GRCh38]
Chr5:1280370 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+18C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002894566] |
Chr5:1279273 [GRCh38]
Chr5:1279388 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.815T>G (p.Val272Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002890849] |
Chr5:1294071 [GRCh38]
Chr5:1294186 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.515G>A (p.Gly172Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002644326] |
Chr5:1294371 [GRCh38]
Chr5:1294486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+19G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002828562] |
Chr5:1294752 [GRCh38]
Chr5:1294867 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2996C>T (p.Thr999Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002667754] |
Chr5:1258634 [GRCh38]
Chr5:1258749 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3139C>T (p.Leu1047=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002597216] |
Chr5:1255305 [GRCh38]
Chr5:1255420 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2224C>T (p.Arg742Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002572352] |
Chr5:1278703 [GRCh38]
Chr5:1278818 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1770-5T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002711088] |
Chr5:1280343 [GRCh38]
Chr5:1280458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1453del (p.Arg485fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003024302] |
Chr5:1293433 [GRCh38]
Chr5:1293548 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1390T>C (p.Phe464Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003056961] |
Chr5:1293496 [GRCh38]
Chr5:1293611 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3244C>G (p.Leu1082Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002928836] |
Chr5:1254419 [GRCh38]
Chr5:1254534 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2493C>A (p.Ile831=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002595413] |
Chr5:1268609 [GRCh38]
Chr5:1268724 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-10G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003040034] |
Chr5:1271214 [GRCh38]
Chr5:1271329 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-13T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002890839] |
Chr5:1278809 [GRCh38]
Chr5:1278924 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3089C>T (p.Thr1030Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002918037] |
Chr5:1255355 [GRCh38]
Chr5:1255470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.755G>A (p.Gly252Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002828722] |
Chr5:1294131 [GRCh38]
Chr5:1294246 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1548C>T (p.Asp516=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002852408] |
Chr5:1293338 [GRCh38]
Chr5:1293453 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002957175] |
Chr5:1264604 [GRCh38]
Chr5:1264719 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-18_2971-17del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002928466] |
Chr5:1258676..1258677 [GRCh38]
Chr5:1258791..1258792 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.952G>T (p.Asp318Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002710919] |
Chr5:1293934 [GRCh38]
Chr5:1294049 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2413C>A (p.Leu805Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003082451] |
Chr5:1271174 [GRCh38]
Chr5:1271289 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1335C>G (p.Pro445=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002929049] |
Chr5:1293551 [GRCh38]
Chr5:1293666 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2323C>T (p.Gln775Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002918325] |
Chr5:1272244 [GRCh38]
Chr5:1272359 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2844-8T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002663558] |
Chr5:1260608 [GRCh38]
Chr5:1260723 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1011C>G (p.Asp337Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002765640]|Inborn genetic diseases [RCV002741403] |
Chr5:1293875 [GRCh38]
Chr5:1293990 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2811C>G (p.Thr937=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002982870] |
Chr5:1264436 [GRCh38]
Chr5:1264551 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2866G>A (p.Ala956Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002851352] |
Chr5:1260578 [GRCh38]
Chr5:1260693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2544C>T (p.Asp848=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003005680] |
Chr5:1268558 [GRCh38]
Chr5:1268673 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1279G>A (p.Ala427Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003024025] |
Chr5:1293607 [GRCh38]
Chr5:1293722 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-20G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002918134] |
Chr5:1272300 [GRCh38]
Chr5:1272415 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.657G>C (p.Pro219=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002574575] |
Chr5:1294229 [GRCh38]
Chr5:1294344 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.815T>C (p.Val272Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002918470] |
Chr5:1294071 [GRCh38]
Chr5:1294186 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2630_2634del (p.Leu877fs) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002829042] |
Chr5:1266484..1266488 [GRCh38]
Chr5:1266599..1266603 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1978G>T (p.Ala660Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003475523]|Dyskeratosis congenita, autosomal dominant 2 [RCV003777911]|Inborn genetic diseases [RCV002892447] |
Chr5:1279443 [GRCh38]
Chr5:1279558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1379del (p.Gln460fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV002914556] |
Chr5:1293507 [GRCh38]
Chr5:1293622 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2412C>T (p.Gly804=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002852105] |
Chr5:1271175 [GRCh38]
Chr5:1271290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1478A>G (p.Lys493Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167855]|Dyskeratosis congenita, autosomal dominant 2 [RCV002872650] |
Chr5:1293408 [GRCh38]
Chr5:1293523 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002640710] |
Chr5:1282417 [GRCh38]
Chr5:1282532 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.460G>T (p.Ala154Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002851241] |
Chr5:1294426 [GRCh38]
Chr5:1294541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.57C>T (p.Arg19=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002802105] |
Chr5:1294933 [GRCh38]
Chr5:1295048 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-14G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002851251] |
Chr5:1271218 [GRCh38]
Chr5:1271333 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583G>A (p.Gly861=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003058366] |
Chr5:1266535 [GRCh38]
Chr5:1266650 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1242G>C (p.Pro414=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002829719] |
Chr5:1293644 [GRCh38]
Chr5:1293759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.49C>T (p.His17Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003056958] |
Chr5:1294941 [GRCh38]
Chr5:1295056 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1319A>G (p.Glu440Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002700869] |
Chr5:1293567 [GRCh38]
Chr5:1293682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3334C>T (p.Leu1112=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002828698] |
Chr5:1253793 [GRCh38]
Chr5:1253908 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.683C>T (p.Ala228Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003042994] |
Chr5:1294203 [GRCh38]
Chr5:1294318 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1129C>T (p.Arg377Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002574775] |
Chr5:1293757 [GRCh38]
Chr5:1293872 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+1G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002929149] |
Chr5:1279290 [GRCh38]
Chr5:1279405 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.811T>G (p.Cys271Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003162075]|Dyskeratosis congenita, autosomal dominant 2 [RCV002625276] |
Chr5:1294075 [GRCh38]
Chr5:1294190 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.607T>G (p.Trp203Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002642349] |
Chr5:1294279 [GRCh38]
Chr5:1294394 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2649C>T (p.Phe883=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003083370] |
Chr5:1266469 [GRCh38]
Chr5:1266584 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1537A>T (p.Ser513Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003058188] |
Chr5:1293349 [GRCh38]
Chr5:1293464 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1072C>A (p.Arg358=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002890977] |
Chr5:1293814 [GRCh38]
Chr5:1293929 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3299A>G (p.Gln1100Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002801718] |
Chr5:1253828 [GRCh38]
Chr5:1253943 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+235_2453del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003047873] |
Chr5:1271134..1271950 [GRCh38]
Chr5:1271249..1272065 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2130+13G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003089912] |
Chr5:1279278 [GRCh38]
Chr5:1279393 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1073G>C (p.Arg358Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002720577] |
Chr5:1293813 [GRCh38]
Chr5:1293928 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+6G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002601045] |
Chr5:1282423 [GRCh38]
Chr5:1282538 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.105C>T (p.Gly35=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003066021] |
Chr5:1294885 [GRCh38]
Chr5:1295000 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-14G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002811962] |
Chr5:1271218 [GRCh38]
Chr5:1271333 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003031652] |
Chr5:1268652 [GRCh38]
Chr5:1268767 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+13G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002676614] |
Chr5:1279278 [GRCh38]
Chr5:1279393 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.248G>C (p.Arg83Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002651878] |
Chr5:1294638 [GRCh38]
Chr5:1294753 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1277G>C (p.Cys426Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002580728] |
Chr5:1293609 [GRCh38]
Chr5:1293724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2262C>G (p.His754Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002720896] |
Chr5:1278665 [GRCh38]
Chr5:1278780 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1666C>T (p.Leu556=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002877446] |
Chr5:1282532 [GRCh38]
Chr5:1282647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2970+18C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003065566] |
Chr5:1260456 [GRCh38]
Chr5:1260571 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1822C>A (p.Gln608Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003047214] |
Chr5:1280286 [GRCh38]
Chr5:1280401 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2654+6G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002651623] |
Chr5:1266458 [GRCh38]
Chr5:1266573 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2509C>T (p.Leu837Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003061404] |
Chr5:1268593 [GRCh38]
Chr5:1268708 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1795C>T (p.Arg599Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003087636]|not provided [RCV003481387] |
Chr5:1280313 [GRCh38]
Chr5:1280428 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-3C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003027049] |
Chr5:1260603 [GRCh38]
Chr5:1260718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2841C>A (p.Ser947=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002898937] |
Chr5:1264406 [GRCh38]
Chr5:1264521 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2251G>T (p.Ala751Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003087223] |
Chr5:1278676 [GRCh38]
Chr5:1278791 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1517A>G (p.Gln506Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002630026] |
Chr5:1293369 [GRCh38]
Chr5:1293484 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2468+17G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002834630] |
Chr5:1271102 [GRCh38]
Chr5:1271217 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.112C>T (p.Leu38=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002716303] |
Chr5:1294878 [GRCh38]
Chr5:1294993 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1417G>T (p.Val473Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003028632] |
Chr5:1293469 [GRCh38]
Chr5:1293584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2654+17G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002629066] |
Chr5:1266447 [GRCh38]
Chr5:1266562 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.850T>C (p.Ser284Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002578752] |
Chr5:1294036 [GRCh38]
Chr5:1294151 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.627G>T (p.Glu209Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002791917] |
Chr5:1294259 [GRCh38]
Chr5:1294374 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.945T>A (p.Arg315=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002770721] |
Chr5:1293941 [GRCh38]
Chr5:1294056 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2769G>T (p.Pro923=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002899198] |
Chr5:1264478 [GRCh38]
Chr5:1264593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1563C>A (p.Arg521=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003170870]|Dyskeratosis congenita, autosomal dominant 2 [RCV003028252] |
Chr5:1293323 [GRCh38]
Chr5:1293438 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.884C>G (p.Ser295Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003064047] |
Chr5:1294002 [GRCh38]
Chr5:1294117 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+1G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002834223] |
Chr5:1272184 [GRCh38]
Chr5:1272299 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2844-9G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002651142] |
Chr5:1260609 [GRCh38]
Chr5:1260724 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.110G>T (p.Arg37Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002597618] |
Chr5:1294880 [GRCh38]
Chr5:1294995 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.57_58del (p.Glu20fs) |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV002806696] |
Chr5:1294932..1294933 [GRCh38]
Chr5:1295047..1295048 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3107T>C (p.Ile1036Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003045923] |
Chr5:1255337 [GRCh38]
Chr5:1255452 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.973T>C (p.Tyr325His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002834497] |
Chr5:1293913 [GRCh38]
Chr5:1294028 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1964C>G (p.Thr655Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003048158] |
Chr5:1279457 [GRCh38]
Chr5:1279572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1538G>A (p.Ser513Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002746132] |
Chr5:1293348 [GRCh38]
Chr5:1293463 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2131G>T (p.Val711Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002806135] |
Chr5:1278796 [GRCh38]
Chr5:1278911 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1669C>G (p.Leu557Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003028772] |
Chr5:1282529 [GRCh38]
Chr5:1282644 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2971-11G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003086425] |
Chr5:1258670 [GRCh38]
Chr5:1258785 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+9T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002629541] |
Chr5:1268511 [GRCh38]
Chr5:1268626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-8C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002599487] |
Chr5:1282632 [GRCh38]
Chr5:1282747 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1290G>A (p.Lys430=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002651162] |
Chr5:1293596 [GRCh38]
Chr5:1293711 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1500T>C (p.His500=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003091244] |
Chr5:1293386 [GRCh38]
Chr5:1293501 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3050T>C (p.Leu1017Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003046861] |
Chr5:1255394 [GRCh38]
Chr5:1255509 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.345C>T (p.Phe115=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167685]|Dyskeratosis congenita, autosomal dominant 2 [RCV002717347] |
Chr5:1294541 [GRCh38]
Chr5:1294656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002895240] |
Chr5:1278815 [GRCh38]
Chr5:1278930 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.735G>C (p.Glu245Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002653222] |
Chr5:1294151 [GRCh38]
Chr5:1294266 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.809dup (p.Cys271fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV002814921] |
Chr5:1294076..1294077 [GRCh38]
Chr5:1294191..1294192 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.705C>G (p.Pro235=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003092394] |
Chr5:1294181 [GRCh38]
Chr5:1294296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002944191] |
Chr5:1271223 [GRCh38]
Chr5:1271338 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2466C>T (p.Gly822=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003066542] |
Chr5:1271121 [GRCh38]
Chr5:1271236 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1269C>G (p.Ala423=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002584679] |
Chr5:1293617 [GRCh38]
Chr5:1293732 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.290T>G (p.Leu97Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002814663] |
Chr5:1294596 [GRCh38]
Chr5:1294711 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2461_2462del (p.Arg821fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003092616] |
Chr5:1271125..1271126 [GRCh38]
Chr5:1271240..1271241 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.372C>T (p.Pro124=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003069527] |
Chr5:1294514 [GRCh38]
Chr5:1294629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.792A>G (p.Gly264=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003067252] |
Chr5:1294094 [GRCh38]
Chr5:1294209 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3272C>G (p.Pro1091Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002602966] |
Chr5:1254391 [GRCh38]
Chr5:1254506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1357C>T (p.Arg453Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002942733] |
Chr5:1293529 [GRCh38]
Chr5:1293644 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-20A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003068153] |
Chr5:1264612 [GRCh38]
Chr5:1264727 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+16G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002633966] |
Chr5:1258582 [GRCh38]
Chr5:1258697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1320G>A (p.Glu440=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003162034]|Dyskeratosis congenita, autosomal dominant 2 [RCV002633337] |
Chr5:1293566 [GRCh38]
Chr5:1293681 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1769+17C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003071355] |
Chr5:1282412 [GRCh38]
Chr5:1282527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1988G>A (p.Ser663Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002584123]|Dyskeratosis congenita, autosomal dominant 2 [RCV003475397] |
Chr5:1279433 [GRCh38]
Chr5:1279548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.949T>C (p.Trp317Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003052347] |
Chr5:1293937 [GRCh38]
Chr5:1294052 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+20G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003068532] |
Chr5:1278621 [GRCh38]
Chr5:1278736 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2070G>C (p.Trp690Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003052001] |
Chr5:1279351 [GRCh38]
Chr5:1279466 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1784G>A (p.Arg595Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003073237] |
Chr5:1280324 [GRCh38]
Chr5:1280439 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1861C>A (p.Leu621Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003093472] |
Chr5:1280247 [GRCh38]
Chr5:1280362 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.686G>T (p.Ser229Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002680777] |
Chr5:1294200 [GRCh38]
Chr5:1294315 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.976G>T (p.Ala326Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003051354] |
Chr5:1293910 [GRCh38]
Chr5:1294025 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2074A>G (p.Thr692Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002680872] |
Chr5:1279347 [GRCh38]
Chr5:1279462 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2454G>C (p.Val818=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002944058] |
Chr5:1271133 [GRCh38]
Chr5:1271248 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.32G>C (p.Arg11Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003072361] |
Chr5:1294958 [GRCh38]
Chr5:1295073 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2021G>T (p.Gly674Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002607197] |
Chr5:1279400 [GRCh38]
Chr5:1279515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+18C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002610991] |
Chr5:1272167 [GRCh38]
Chr5:1272282 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1359C>T (p.Arg453=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002611090] |
Chr5:1293527 [GRCh38]
Chr5:1293642 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.583A>G (p.Arg195Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002635328] |
Chr5:1294303 [GRCh38]
Chr5:1294418 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1299C>T (p.Gly433=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003070965] |
Chr5:1293587 [GRCh38]
Chr5:1293702 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1910A>C (p.Asp637Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003073263] |
Chr5:1280198 [GRCh38]
Chr5:1280313 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2935C>A (p.Arg979=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV002942261] |
Chr5:1260509 [GRCh38]
Chr5:1260624 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.289_290delinsG (p.Leu97fs) |
indel |
Telomere syndrome [RCV003325420] |
Chr5:1294596..1294597 [GRCh38]
Chr5:1294711..1294712 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3073G>T (p.Val1025Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003227578] |
Chr5:1255371 [GRCh38]
Chr5:1255486 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.33C>A (p.Arg11=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188198] |
Chr5:1294957 [GRCh38]
Chr5:1295072 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.588T>C (p.Arg196=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188199] |
Chr5:1294298 [GRCh38]
Chr5:1294413 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1595C>T (p.Ala532Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188200] |
Chr5:1282603 [GRCh38]
Chr5:1282718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.947C>T (p.Pro316Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188203] |
Chr5:1293939 [GRCh38]
Chr5:1294054 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1120G>A (p.Gly374Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188204]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779591] |
Chr5:1293766 [GRCh38]
Chr5:1293881 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2486A>G (p.Gln829Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188208] |
Chr5:1268616 [GRCh38]
Chr5:1268731 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1982T>A (p.Leu661Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188209] |
Chr5:1279439 [GRCh38]
Chr5:1279554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.722G>A (p.Gly241Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188217] |
Chr5:1294164 [GRCh38]
Chr5:1294279 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.126G>A (p.Gly42=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188223] |
Chr5:1294864 [GRCh38]
Chr5:1294979 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1623G>T (p.Leu541=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216311] |
Chr5:1282575 [GRCh38]
Chr5:1282690 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1080C>G (p.Leu360=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216310]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779755] |
Chr5:1293806 [GRCh38]
Chr5:1293921 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1513C>T (p.Leu505=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216309]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779754] |
Chr5:1293373 [GRCh38]
Chr5:1293488 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216308]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779753] |
Chr5:1253805 [GRCh38]
Chr5:1253920 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.648G>A (p.Leu216=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216307] |
Chr5:1294238 [GRCh38]
Chr5:1294353 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3075T>C (p.Val1025=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216306]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779752] |
Chr5:1255369 [GRCh38]
Chr5:1255484 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1601A>T (p.His534Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216305] |
Chr5:1282597 [GRCh38]
Chr5:1282712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1748A>C (p.Lys583Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188225] |
Chr5:1282450 [GRCh38]
Chr5:1282565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1034T>A (p.Phe345Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188226] |
Chr5:1293852 [GRCh38]
Chr5:1293967 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2430A>G (p.Leu810=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188227] |
Chr5:1271157 [GRCh38]
Chr5:1271272 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2192G>A (p.Ser731Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188228] |
Chr5:1278735 [GRCh38]
Chr5:1278850 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3008A>G (p.Lys1003Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188229] |
Chr5:1258622 [GRCh38]
Chr5:1258737 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1356C>A (p.Leu452=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003172627] |
Chr5:1293530 [GRCh38]
Chr5:1293645 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2729A>G (p.Glu910Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003172628] |
Chr5:1264518 [GRCh38]
Chr5:1264633 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2892C>T (p.Phe964=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003172629] |
Chr5:1260552 [GRCh38]
Chr5:1260667 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1765A>G (p.Ile589Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003165284] |
Chr5:1282433 [GRCh38]
Chr5:1282548 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3063_3064delinsAT (p.Phe1021_His1022delinsLeuTyr) |
indel |
not provided [RCV003140962] |
Chr5:1255380..1255381 [GRCh38]
Chr5:1255495..1255496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
not provided [RCV003140963] |
Chr5:1293603 [GRCh38]
Chr5:1293718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.33C>T (p.Arg11=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003176482]|Dyskeratosis congenita, autosomal dominant 2 [RCV003778946] |
Chr5:1294957 [GRCh38]
Chr5:1295072 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.886C>T (p.His296Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003176483] |
Chr5:1294000 [GRCh38]
Chr5:1294115 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.55C>G (p.Arg19Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003176484] |
Chr5:1294935 [GRCh38]
Chr5:1295050 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.206C>T (p.Pro69Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003176485]|Dyskeratosis congenita, autosomal dominant 2 [RCV003778947] |
Chr5:1294784 [GRCh38]
Chr5:1294899 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.610A>T (p.Asn204Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003176486] |
Chr5:1294276 [GRCh38]
Chr5:1294391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2142G>T (p.Thr714=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188210] |
Chr5:1278785 [GRCh38]
Chr5:1278900 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2799G>T (p.Leu933=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188211]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779594] |
Chr5:1264448 [GRCh38]
Chr5:1264563 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2210A>T (p.Asn737Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188212] |
Chr5:1278717 [GRCh38]
Chr5:1278832 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2336A>G (p.His779Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188213] |
Chr5:1272231 [GRCh38]
Chr5:1272346 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1191T>G (p.Leu397=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188214] |
Chr5:1293695 [GRCh38]
Chr5:1293810 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2977A>G (p.Ser993Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188215] |
Chr5:1258653 [GRCh38]
Chr5:1258768 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.384C>A (p.Thr128=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188216] |
Chr5:1294502 [GRCh38]
Chr5:1294617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2622A>G (p.Thr874=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188218] |
Chr5:1266496 [GRCh38]
Chr5:1266611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.472C>T (p.Leu158Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188219]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779595] |
Chr5:1294414 [GRCh38]
Chr5:1294529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2757T>G (p.Phe919Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188220] |
Chr5:1264490 [GRCh38]
Chr5:1264605 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3250C>G (p.Arg1084Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188221] |
Chr5:1254413 [GRCh38]
Chr5:1254528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1002C>T (p.Ser334=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188222] |
Chr5:1293884 [GRCh38]
Chr5:1293999 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1618A>T (p.Ile540Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003208627] |
Chr5:1282580 [GRCh38]
Chr5:1282695 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188201]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779589] |
Chr5:1293675 [GRCh38]
Chr5:1293790 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.333C>G (p.Pro111=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188202]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779590] |
Chr5:1294553 [GRCh38]
Chr5:1294668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1127C>T (p.Pro376Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188205]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779592] |
Chr5:1293759 [GRCh38]
Chr5:1293874 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2595T>C (p.Arg865=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188206] |
Chr5:1266523 [GRCh38]
Chr5:1266638 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.453C>T (p.His151=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188207]|Dyskeratosis congenita, autosomal dominant 2 [RCV003779593] |
Chr5:1294433 [GRCh38]
Chr5:1294548 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2252C>T (p.Ala751Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003188224] |
Chr5:1278675 [GRCh38]
Chr5:1278790 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.698C>A (p.Pro233Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003216304] |
Chr5:1294188 [GRCh38]
Chr5:1294303 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3085C>G (p.Pro1029Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV003165285] |
Chr5:1255359 [GRCh38]
Chr5:1255474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.-174G>C |
single nucleotide variant |
not specified [RCV003321001] |
Chr5:1295163 [GRCh38]
Chr5:1295278 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-146C>T |
single nucleotide variant |
Lung sarcomatoid carcinoma [RCV003322642] |
Chr5:1295135 [GRCh38]
Chr5:1295250 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NC_000005.10:g.1299535G>A |
single nucleotide variant |
not provided [RCV003223177] |
Chr5:1299535 [GRCh38]
Chr5:1299650 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 |
copy number loss |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] |
Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 |
copy number loss |
not provided [RCV003485447] |
Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 |
copy number loss |
not provided [RCV003485448] |
Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 |
copy number loss |
not provided [RCV003485450] |
Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.297C>A (p.Phe99Leu) |
single nucleotide variant |
not provided [RCV003481747] |
Chr5:1294589 [GRCh38]
Chr5:1294704 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3183C>G (p.Ala1061=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792308] |
Chr5:1254480 [GRCh38]
Chr5:1254595 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2907C>G (p.Asn969Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792317] |
Chr5:1260537 [GRCh38]
Chr5:1260652 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3289A>C (p.Arg1097=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792341] |
Chr5:1254374 [GRCh38]
Chr5:1254489 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 |
copy number loss |
not provided [RCV003485453] |
Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_198253.3(TERT):c.1322_1336dup (p.Pro445_Arg446insGlnAspThrAspPro) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003464688] |
Chr5:1293549..1293550 [GRCh38]
Chr5:1293664..1293665 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.335C>G (p.Pro112Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791426] |
Chr5:1294551 [GRCh38]
Chr5:1294666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 |
copy number loss |
not provided [RCV003485449] |
Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_198253.3(TERT):c.1814A>G (p.Glu605Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003474057] |
Chr5:1280294 [GRCh38]
Chr5:1280409 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.698C>T (p.Pro233Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003474059] |
Chr5:1294188 [GRCh38]
Chr5:1294303 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.799G>C (p.Asp267His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003474060] |
Chr5:1294087 [GRCh38]
Chr5:1294202 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2329G>T (p.Val777Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003474056] |
Chr5:1272238 [GRCh38]
Chr5:1272353 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2470T>C (p.Ser824Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003474061] |
Chr5:1268632 [GRCh38]
Chr5:1268747 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003464687] |
Chr5:1279301 [GRCh38]
Chr5:1279416 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 |
copy number gain |
not provided [RCV003484599] |
Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NC_000005.9:g.(?_1253281)_(1278912_1279405)dup |
duplication |
not specified [RCV003479870] |
Chr5:1253281..1278912 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1545G>T (p.Arg515=) |
single nucleotide variant |
not provided [RCV003436373] |
Chr5:1293341 [GRCh38]
Chr5:1293456 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2086C>T (p.Arg696Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003779201]|not provided [RCV003481746] |
Chr5:1279335 [GRCh38]
Chr5:1279450 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2147C>G (p.Ala716Gly) |
single nucleotide variant |
not provided [RCV003480470] |
Chr5:1278780 [GRCh38]
Chr5:1278895 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.44G>A (p.Arg15His) |
single nucleotide variant |
not provided [RCV003441629] |
Chr5:1294946 [GRCh38]
Chr5:1295061 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.913_915delinsACA (p.Ala305Thr) |
indel |
TERT-related condition [RCV003400261] |
Chr5:1293971..1293973 [GRCh38]
Chr5:1294086..1294088 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1824G>A (p.Gln608=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791781] |
Chr5:1280284 [GRCh38]
Chr5:1280399 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.823C>T (p.Pro275Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003778467]|not provided [RCV003443742] |
Chr5:1294063 [GRCh38]
Chr5:1294178 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2841C>T (p.Ser947=) |
single nucleotide variant |
not provided [RCV003436372] |
Chr5:1264406 [GRCh38]
Chr5:1264521 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1457G>C (p.Arg486Pro) |
single nucleotide variant |
TERT-related condition [RCV003402278] |
Chr5:1293429 [GRCh38]
Chr5:1293544 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2539G>A (p.Gly847Ser) |
single nucleotide variant |
TERT-related condition [RCV003404421] |
Chr5:1268563 [GRCh38]
Chr5:1268678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1474AAG[1] (p.Lys493del) |
microsatellite |
not provided [RCV003443775] |
Chr5:1293407..1293409 [GRCh38]
Chr5:1293522..1293524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1174_1175del (p.Leu392fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003778225]|TERT-related condition [RCV003402492] |
Chr5:1293711..1293712 [GRCh38]
Chr5:1293826..1293827 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2383-12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793653] |
Chr5:1271216 [GRCh38]
Chr5:1271331 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.16_37del (p.Arg6fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805207] |
Chr5:1294953..1294974 [GRCh38]
Chr5:1295068..1295089 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1832A>G (p.Glu611Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806483] |
Chr5:1280276 [GRCh38]
Chr5:1280391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2918A>C (p.Lys973Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797307] |
Chr5:1260526 [GRCh38]
Chr5:1260641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-8T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807680] |
Chr5:1264600 [GRCh38]
Chr5:1264715 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-18T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792218] |
Chr5:1268651 [GRCh38]
Chr5:1268766 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.518C>G (p.Pro173Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807249] |
Chr5:1294368 [GRCh38]
Chr5:1294483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+20G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783511] |
Chr5:1279271 [GRCh38]
Chr5:1279386 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1734G>C (p.Lys578Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805321] |
Chr5:1282464 [GRCh38]
Chr5:1282579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1544G>A (p.Arg515Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807818] |
Chr5:1293342 [GRCh38]
Chr5:1293457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2382+14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797471] |
Chr5:1272171 [GRCh38]
Chr5:1272286 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-4C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786984] |
Chr5:1279474 [GRCh38]
Chr5:1279589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2383-6T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792374] |
Chr5:1271210 [GRCh38]
Chr5:1271325 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1267G>A (p.Ala423Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785856] |
Chr5:1293619 [GRCh38]
Chr5:1293734 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.323G>T (p.Arg108Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805437] |
Chr5:1294563 [GRCh38]
Chr5:1294678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.390A>C (p.Ala130=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790829] |
Chr5:1294496 [GRCh38]
Chr5:1294611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+12G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788489] |
Chr5:1278629 [GRCh38]
Chr5:1278744 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1967C>T (p.Ser656Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782227] |
Chr5:1279454 [GRCh38]
Chr5:1279569 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3222C>T (p.Cys1074=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795046] |
Chr5:1254441 [GRCh38]
Chr5:1254556 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3361C>A (p.Pro1121Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805299] |
Chr5:1253766 [GRCh38]
Chr5:1253881 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.787C>T (p.Arg263Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805533] |
Chr5:1294099 [GRCh38]
Chr5:1294214 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2582+6_2582+14del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806749] |
Chr5:1268506..1268514 [GRCh38]
Chr5:1268621..1268629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-57A>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807943] |
Chr5:1295046 [GRCh38]
Chr5:1295161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.657G>A (p.Pro219=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784757] |
Chr5:1294229 [GRCh38]
Chr5:1294344 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2508C>T (p.Ile836=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797501] |
Chr5:1268594 [GRCh38]
Chr5:1268709 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2402C>T (p.Ala801Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791146] |
Chr5:1271185 [GRCh38]
Chr5:1271300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1971G>A (p.Arg657=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790074] |
Chr5:1279450 [GRCh38]
Chr5:1279565 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1339C>G (p.Arg447Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780768] |
Chr5:1293547 [GRCh38]
Chr5:1293662 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3226C>G (p.Gln1076Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797625] |
Chr5:1254437 [GRCh38]
Chr5:1254552 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+11C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788800] |
Chr5:1282418 [GRCh38]
Chr5:1282533 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.978C>A (p.Ala326=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804307] |
Chr5:1293908 [GRCh38]
Chr5:1294023 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3336G>A (p.Leu1112=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795253] |
Chr5:1253791 [GRCh38]
Chr5:1253906 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2154C>A (p.Asp718Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792864] |
Chr5:1278773 [GRCh38]
Chr5:1278888 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2655-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794296] |
Chr5:1264606 [GRCh38]
Chr5:1264721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-147T>C |
single nucleotide variant |
not specified [RCV003494285] |
Chr5:1295136 [GRCh38]
Chr5:1295251 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2130+7G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795652] |
Chr5:1279284 [GRCh38]
Chr5:1279399 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.341C>T (p.Ala114Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805895] |
Chr5:1294545 [GRCh38]
Chr5:1294660 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.735_745del (p.Glu245fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807728] |
Chr5:1294141..1294151 [GRCh38]
Chr5:1294256..1294266 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.165G>A (p.Leu55=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790398] |
Chr5:1294825 [GRCh38]
Chr5:1294940 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158-17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784005] |
Chr5:1254522 [GRCh38]
Chr5:1254637 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2293A>G (p.Thr765Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805851] |
Chr5:1272274 [GRCh38]
Chr5:1272389 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1794G>T (p.Leu598=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795676] |
Chr5:1280314 [GRCh38]
Chr5:1280429 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1951-20T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782931] |
Chr5:1279490 [GRCh38]
Chr5:1279605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.874A>C (p.Thr292Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807621] |
Chr5:1294012 [GRCh38]
Chr5:1294127 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.675G>A (p.Gly225=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781692] |
Chr5:1294211 [GRCh38]
Chr5:1294326 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2221G>C (p.Val741Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806008] |
Chr5:1278706 [GRCh38]
Chr5:1278821 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2121C>T (p.Tyr707=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787888] |
Chr5:1279300 [GRCh38]
Chr5:1279415 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3136A>G (p.Ile1046Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807089] |
Chr5:1255308 [GRCh38]
Chr5:1255423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-17del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796044] |
Chr5:1260617 [GRCh38]
Chr5:1260732 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2914C>G (p.Arg972Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807652] |
Chr5:1260530 [GRCh38]
Chr5:1260645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3202G>C (p.Glu1068Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808017] |
Chr5:1254461 [GRCh38]
Chr5:1254576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.921C>G (p.Pro307=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780171] |
Chr5:1293965 [GRCh38]
Chr5:1294080 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-15T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805069] |
Chr5:1266550 [GRCh38]
Chr5:1266665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-19G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783220] |
Chr5:1266554 [GRCh38]
Chr5:1266669 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2559G>C (p.Leu853=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804893] |
Chr5:1268543 [GRCh38]
Chr5:1268658 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804936] |
Chr5:1253792 [GRCh38]
Chr5:1253907 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-19C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783153] |
Chr5:1272299 [GRCh38]
Chr5:1272414 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1671C>T (p.Leu557=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796169] |
Chr5:1282527 [GRCh38]
Chr5:1282642 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1070del (p.Ala357fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807499] |
Chr5:1293816 [GRCh38]
Chr5:1293931 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2843+10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797222] |
Chr5:1264394 [GRCh38]
Chr5:1264509 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+9A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805806] |
Chr5:1255278 [GRCh38]
Chr5:1255393 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-18A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785982] |
Chr5:1294684 [GRCh38]
Chr5:1294799 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3158G>A (p.Gly1053Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806489] |
Chr5:1254505 [GRCh38]
Chr5:1254620 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1192G>A (p.Gly398Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792104] |
Chr5:1293694 [GRCh38]
Chr5:1293809 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2582+13C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793656] |
Chr5:1268507 [GRCh38]
Chr5:1268622 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.525G>C (p.Leu175=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806294] |
Chr5:1294361 [GRCh38]
Chr5:1294476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1141del (p.Arg381fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792172] |
Chr5:1293745 [GRCh38]
Chr5:1293860 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.580C>G (p.Arg194Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795664] |
Chr5:1294306 [GRCh38]
Chr5:1294421 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2511C>G (p.Leu837=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804521] |
Chr5:1268591 [GRCh38]
Chr5:1268706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1439C>G (p.Ser480Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786744] |
Chr5:1293447 [GRCh38]
Chr5:1293562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+19G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784177] |
Chr5:1294752 [GRCh38]
Chr5:1294867 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.34T>C (p.Ser12Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806565] |
Chr5:1294956 [GRCh38]
Chr5:1295071 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.220-19C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783498] |
Chr5:1294685 [GRCh38]
Chr5:1294800 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.767G>T (p.Trp256Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794394] |
Chr5:1294119 [GRCh38]
Chr5:1294234 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1156T>C (p.Tyr386His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795059] |
Chr5:1293730 [GRCh38]
Chr5:1293845 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.950G>A (p.Trp317Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785418] |
Chr5:1293936 [GRCh38]
Chr5:1294051 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1580G>A (p.Gly527Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806572] |
Chr5:1282618 [GRCh38]
Chr5:1282733 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1831G>T (p.Glu611Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805396] |
Chr5:1280277 [GRCh38]
Chr5:1280392 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2971-18C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790338] |
Chr5:1258677 [GRCh38]
Chr5:1258792 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.308T>C (p.Leu103Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791186] |
Chr5:1294578 [GRCh38]
Chr5:1294693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.878G>A (p.Arg293His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786856] |
Chr5:1294008 [GRCh38]
Chr5:1294123 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-20C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788276] |
Chr5:1254525 [GRCh38]
Chr5:1254640 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2918A>G (p.Lys973Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795158] |
Chr5:1260526 [GRCh38]
Chr5:1260641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2311C>G (p.Pro771Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805380] |
Chr5:1272256 [GRCh38]
Chr5:1272371 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.568G>T (p.Ala190Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795227] |
Chr5:1294318 [GRCh38]
Chr5:1294433 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.274G>A (p.Gly92Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806697] |
Chr5:1294612 [GRCh38]
Chr5:1294727 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.348C>T (p.Thr116=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805680] |
Chr5:1294538 [GRCh38]
Chr5:1294653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3361C>G (p.Pro1121Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784958] |
Chr5:1253766 [GRCh38]
Chr5:1253881 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2654+14C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781130] |
Chr5:1266450 [GRCh38]
Chr5:1266565 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1008C>A (p.Gly336=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804272] |
Chr5:1293878 [GRCh38]
Chr5:1293993 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1282C>G (p.Arg428Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787792] |
Chr5:1293604 [GRCh38]
Chr5:1293719 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.408G>C (p.Ala136=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789938] |
Chr5:1294478 [GRCh38]
Chr5:1294593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2432G>T (p.Arg811Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781145] |
Chr5:1271155 [GRCh38]
Chr5:1271270 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.929C>T (p.Thr310Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794640] |
Chr5:1293957 [GRCh38]
Chr5:1294072 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2877C>T (p.Thr959=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806916] |
Chr5:1260567 [GRCh38]
Chr5:1260682 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806919] |
Chr5:1294680 [GRCh38]
Chr5:1294795 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.47G>A (p.Ser16Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789298] |
Chr5:1294943 [GRCh38]
Chr5:1295058 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3296-15A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782333] |
Chr5:1253846 [GRCh38]
Chr5:1253961 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.899G>A (p.Gly300Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794065] |
Chr5:1293987 [GRCh38]
Chr5:1294102 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.648G>T (p.Leu216=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787165] |
Chr5:1294238 [GRCh38]
Chr5:1294353 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3295+20A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788702] |
Chr5:1254348 [GRCh38]
Chr5:1254463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2406C>T (p.Ser802=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791830] |
Chr5:1271181 [GRCh38]
Chr5:1271296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.507G>A (p.Gln169=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804868] |
Chr5:1294379 [GRCh38]
Chr5:1294494 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2645C>G (p.Thr882Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788747] |
Chr5:1266473 [GRCh38]
Chr5:1266588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+13_1573+15del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783826] |
Chr5:1293298..1293300 [GRCh38]
Chr5:1293413..1293415 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3117G>T (p.Thr1039=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806845] |
Chr5:1255327 [GRCh38]
Chr5:1255442 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781725] |
Chr5:1294582 [GRCh38]
Chr5:1294697 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.384C>G (p.Thr128=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804226] |
Chr5:1294502 [GRCh38]
Chr5:1294617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2496G>T (p.Pro832=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781214] |
Chr5:1268606 [GRCh38]
Chr5:1268721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130G>A (p.Lys710=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805285] |
Chr5:1279291 [GRCh38]
Chr5:1279406 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1407G>T (p.Leu469=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804818] |
Chr5:1293479 [GRCh38]
Chr5:1293594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3122C>G (p.Ser1041Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805320] |
Chr5:1255322 [GRCh38]
Chr5:1255437 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.614A>C (p.His205Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805756] |
Chr5:1294272 [GRCh38]
Chr5:1294387 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2063G>A (p.Arg688Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806173] |
Chr5:1279358 [GRCh38]
Chr5:1279473 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1837_1841del (p.Leu616fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806181] |
Chr5:1280267..1280271 [GRCh38]
Chr5:1280382..1280386 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.906G>C (p.Gln302His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807227] |
Chr5:1293980 [GRCh38]
Chr5:1294095 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3157+7G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783863] |
Chr5:1255280 [GRCh38]
Chr5:1255395 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1645A>T (p.Met549Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789417] |
Chr5:1282553 [GRCh38]
Chr5:1282668 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.970del (p.Val324fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804848] |
Chr5:1293916 [GRCh38]
Chr5:1294031 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795088] |
Chr5:1254451 [GRCh38]
Chr5:1254566 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1290G>T (p.Lys430Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787045] |
Chr5:1293596 [GRCh38]
Chr5:1293711 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1571C>A (p.Pro524Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795137] |
Chr5:1293315 [GRCh38]
Chr5:1293430 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.774C>T (p.His258=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805343] |
Chr5:1294112 [GRCh38]
Chr5:1294227 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1796G>C (p.Arg599Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795154] |
Chr5:1280312 [GRCh38]
Chr5:1280427 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.938C>A (p.Pro313Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795596] |
Chr5:1293948 [GRCh38]
Chr5:1294063 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1575G>T (p.Gly525=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785706] |
Chr5:1282623 [GRCh38]
Chr5:1282738 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.67C>T (p.Pro23Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807271] |
Chr5:1294923 [GRCh38]
Chr5:1295038 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1552G>A (p.Ala518Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791053] |
Chr5:1293334 [GRCh38]
Chr5:1293449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2014C>A (p.Arg672Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792899] |
Chr5:1279407 [GRCh38]
Chr5:1279522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.653C>T (p.Ala218Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784823] |
Chr5:1294233 [GRCh38]
Chr5:1294348 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1527G>C (p.Thr509=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796803] |
Chr5:1293359 [GRCh38]
Chr5:1293474 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2468+17G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780814] |
Chr5:1271102 [GRCh38]
Chr5:1271217 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3153C>A (p.Asn1051Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785367] |
Chr5:1255291 [GRCh38]
Chr5:1255406 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.389C>T (p.Ala130Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786505] |
Chr5:1294497 [GRCh38]
Chr5:1294612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2175C>T (p.Leu725=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795204] |
Chr5:1278752 [GRCh38]
Chr5:1278867 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1221G>A (p.Val407=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785777] |
Chr5:1293665 [GRCh38]
Chr5:1293780 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.634G>C (p.Val212Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003791575] |
Chr5:1294252 [GRCh38]
Chr5:1294367 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1323G>A (p.Glu441=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782913] |
Chr5:1293563 [GRCh38]
Chr5:1293678 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.763T>A (p.Ser255Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787319] |
Chr5:1294123 [GRCh38]
Chr5:1294238 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.219+12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794768] |
Chr5:1294759 [GRCh38]
Chr5:1294874 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2131-12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796874] |
Chr5:1278808 [GRCh38]
Chr5:1278923 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2273C>T (p.Ala758Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805975] |
Chr5:1278654 [GRCh38]
Chr5:1278769 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.625G>A (p.Glu209Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785844] |
Chr5:1294261 [GRCh38]
Chr5:1294376 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3157+13G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806981] |
Chr5:1255274 [GRCh38]
Chr5:1255389 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1105A>C (p.Arg369=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782970] |
Chr5:1293781 [GRCh38]
Chr5:1293896 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+15T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805046] |
Chr5:1278626 [GRCh38]
Chr5:1278741 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.630C>A (p.Ala210=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003785440] |
Chr5:1294256 [GRCh38]
Chr5:1294371 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1326C>T (p.Asp442=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796850] |
Chr5:1293560 [GRCh38]
Chr5:1293675 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1073G>T (p.Arg358Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787096] |
Chr5:1293813 [GRCh38]
Chr5:1293928 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+2T>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780416] |
Chr5:1293311 [GRCh38]
Chr5:1293426 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2844-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796176] |
Chr5:1260614 [GRCh38]
Chr5:1260729 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.817G>C (p.Val273Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796187] |
Chr5:1294069 [GRCh38]
Chr5:1294184 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.40C>A (p.Leu14Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781034] |
Chr5:1294950 [GRCh38]
Chr5:1295065 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1951-14G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804603] |
Chr5:1279484 [GRCh38]
Chr5:1279599 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1041C>T (p.Leu347=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804646] |
Chr5:1293845 [GRCh38]
Chr5:1293960 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2253C>A (p.Ala751=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807129] |
Chr5:1278674 [GRCh38]
Chr5:1278789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.569C>G (p.Ala190Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003807131] |
Chr5:1294317 [GRCh38]
Chr5:1294432 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.498C>T (p.Cys166=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783336] |
Chr5:1294388 [GRCh38]
Chr5:1294503 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.343T>C (p.Phe115Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805629] |
Chr5:1294543 [GRCh38]
Chr5:1294658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1947G>C (p.Lys649Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795385] |
Chr5:1280161 [GRCh38]
Chr5:1280276 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1797G>C (p.Arg599=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806455] |
Chr5:1280311 [GRCh38]
Chr5:1280426 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.402C>A (p.Ser134Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003806464] |
Chr5:1294484 [GRCh38]
Chr5:1294599 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2924_2925del (p.Phe975fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786330] |
Chr5:1260519..1260520 [GRCh38]
Chr5:1260634..1260635 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2654+19G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792297] |
Chr5:1266445 [GRCh38]
Chr5:1266560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792301] |
Chr5:1294844..1294845 [GRCh38]
Chr5:1294959..1294960 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.830G>T (p.Arg277Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003783413] |
Chr5:1294056 [GRCh38]
Chr5:1294171 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-11T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788259] |
Chr5:1271215 [GRCh38]
Chr5:1271330 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1158C>T (p.Tyr386=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794464] |
Chr5:1293728 [GRCh38]
Chr5:1293843 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.222G>C (p.Val74=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003795393] |
Chr5:1294664 [GRCh38]
Chr5:1294779 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.694C>T (p.Leu232=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003796703] |
Chr5:1294192 [GRCh38]
Chr5:1294307 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1470C>T (p.Asn490=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788473] |
Chr5:1293416 [GRCh38]
Chr5:1293531 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.482T>C (p.Leu161Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003805205] |
Chr5:1294404 [GRCh38]
Chr5:1294519 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2808_2815del (p.Thr937fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790939] |
Chr5:1264432..1264439 [GRCh38]
Chr5:1264547..1264554 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.913_915delinsTTA (p.Ala305Leu) |
indel |
Dyskeratosis congenita, autosomal dominant 2 [RCV003779493] |
Chr5:1293971..1293973 [GRCh38]
Chr5:1294086..1294088 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1527G>T (p.Thr509=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793593] |
Chr5:1293359 [GRCh38]
Chr5:1293474 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3114C>T (p.Asp1038=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786944] |
Chr5:1255330 [GRCh38]
Chr5:1255445 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.121C>T (p.Arg41Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790444] |
Chr5:1294869 [GRCh38]
Chr5:1294984 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.829A>C (p.Arg277=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804505] |
Chr5:1294057 [GRCh38]
Chr5:1294172 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1672A>T (p.Arg558Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003784006] |
Chr5:1282526 [GRCh38]
Chr5:1282641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+12T>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787132] |
Chr5:1264392 [GRCh38]
Chr5:1264507 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2706G>A (p.Lys902=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782458] |
Chr5:1264541 [GRCh38]
Chr5:1264656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.598G>A (p.Glu200Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804555] |
Chr5:1294288 [GRCh38]
Chr5:1294403 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+10C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003781859] |
Chr5:1264394 [GRCh38]
Chr5:1264509 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.923del (p.Pro308fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786986] |
Chr5:1293963 [GRCh38]
Chr5:1294078 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3032+19G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792195] |
Chr5:1258579 [GRCh38]
Chr5:1258694 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1393G>T (p.Val465Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792227] |
Chr5:1293493 [GRCh38]
Chr5:1293608 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.543C>T (p.Ala181=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788477] |
Chr5:1294343 [GRCh38]
Chr5:1294458 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2959C>T (p.Leu987=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792382] |
Chr5:1260485 [GRCh38]
Chr5:1260600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1356C>G (p.Leu452=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804550] |
Chr5:1293530 [GRCh38]
Chr5:1293645 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-83delC |
deletion |
not specified [RCV003494284] |
Chr5:1295072 [GRCh38]
Chr5:1295187 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.996C>G (p.Leu332=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003787265] |
Chr5:1293890 [GRCh38]
Chr5:1294005 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.964C>A (p.Pro322Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788506] |
Chr5:1293922 [GRCh38]
Chr5:1294037 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1769+4C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780622] |
Chr5:1282425 [GRCh38]
Chr5:1282540 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2958T>C (p.Phe986=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782128] |
Chr5:1260486 [GRCh38]
Chr5:1260601 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2655-7G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782609] |
Chr5:1264599 [GRCh38]
Chr5:1264714 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.163C>T (p.Leu55=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789312] |
Chr5:1294827 [GRCh38]
Chr5:1294942 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3332C>A (p.Thr1111Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792451] |
Chr5:1253795 [GRCh38]
Chr5:1253910 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1725C>T (p.Phe575=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793834] |
Chr5:1282473 [GRCh38]
Chr5:1282588 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.795G>T (p.Pro265=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804375] |
Chr5:1294091 [GRCh38]
Chr5:1294206 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2582+17C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788620] |
Chr5:1268503 [GRCh38]
Chr5:1268618 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3032+12C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788623] |
Chr5:1258586 [GRCh38]
Chr5:1258701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2564C>A (p.Ala855Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780700] |
Chr5:1268538 [GRCh38]
Chr5:1268653 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2555A>G (p.Lys852Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789175] |
Chr5:1268547 [GRCh38]
Chr5:1268662 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-11T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790633] |
Chr5:1254516 [GRCh38]
Chr5:1254631 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1262C>T (p.Pro421Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782522] |
Chr5:1293624 [GRCh38]
Chr5:1293739 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3300G>A (p.Gln1100=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792344] |
Chr5:1253827 [GRCh38]
Chr5:1253942 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1172C>T (p.Pro391Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790066] |
Chr5:1293714 [GRCh38]
Chr5:1293829 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1573+16C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780927] |
Chr5:1293297 [GRCh38]
Chr5:1293412 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2287-7C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788751] |
Chr5:1272287 [GRCh38]
Chr5:1272402 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-14dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789475] |
Chr5:1280351..1280352 [GRCh38]
Chr5:1280466..1280467 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.2806G>C (p.Asp936His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003789503] |
Chr5:1264441 [GRCh38]
Chr5:1264556 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2733C>G (p.Asp911Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003790684] |
Chr5:1264514 [GRCh38]
Chr5:1264629 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+1G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003792572] |
Chr5:1278640 [GRCh38]
Chr5:1278755 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1246C>T (p.Arg416Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782297] |
Chr5:1293640 [GRCh38]
Chr5:1293755 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1921G>C (p.Gly641Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003786681] |
Chr5:1280187 [GRCh38]
Chr5:1280302 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3158-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003780261] |
Chr5:1254519 [GRCh38]
Chr5:1254634 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.69G>T (p.Pro23=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793088] |
Chr5:1294921 [GRCh38]
Chr5:1295036 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-20C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793975] |
Chr5:1268653 [GRCh38]
Chr5:1268768 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2299A>G (p.Thr767Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003782824] |
Chr5:1272268 [GRCh38]
Chr5:1272383 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1951-16A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003793506] |
Chr5:1279486 [GRCh38]
Chr5:1279601 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2877C>A (p.Thr959=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804264] |
Chr5:1260567 [GRCh38]
Chr5:1260682 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1002C>G (p.Ser334=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003794021] |
Chr5:1293884 [GRCh38]
Chr5:1293999 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.522G>A (p.Pro174=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003788901] |
Chr5:1294364 [GRCh38]
Chr5:1294479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3173C>T (p.Ala1058Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800872] |
Chr5:1254490 [GRCh38]
Chr5:1254605 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-17C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809031] |
Chr5:1272297 [GRCh38]
Chr5:1272412 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.519G>C (p.Pro173=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809062] |
Chr5:1294367 [GRCh38]
Chr5:1294482 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2253C>G (p.Ala751=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810063] |
Chr5:1278674 [GRCh38]
Chr5:1278789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1103C>A (p.Ser368Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810065] |
Chr5:1293783 [GRCh38]
Chr5:1293898 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1866C>T (p.Arg622=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813480] |
Chr5:1280242 [GRCh38]
Chr5:1280357 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.329G>T (p.Gly110Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798846] |
Chr5:1294557 [GRCh38]
Chr5:1294672 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.131dup (p.Ala45fs) |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809005] |
Chr5:1294858..1294859 [GRCh38]
Chr5:1294973..1294974 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2362G>A (p.Asp788Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809154] |
Chr5:1272205 [GRCh38]
Chr5:1272320 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2970+3G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812336] |
Chr5:1260471 [GRCh38]
Chr5:1260586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1319A>T (p.Glu440Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809003] |
Chr5:1293567 [GRCh38]
Chr5:1293682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1672A>G (p.Arg558Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809202] |
Chr5:1282526 [GRCh38]
Chr5:1282641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.216C>A (p.Arg72=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810208] |
Chr5:1294774 [GRCh38]
Chr5:1294889 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2911C>G (p.Arg971Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809260] |
Chr5:1260533 [GRCh38]
Chr5:1260648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1254G>C (p.Ala418=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799007] |
Chr5:1293632 [GRCh38]
Chr5:1293747 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2899G>A (p.Gly967Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810291] |
Chr5:1260545 [GRCh38]
Chr5:1260660 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1233G>A (p.Thr411=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808254] |
Chr5:1293653 [GRCh38]
Chr5:1293768 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.949T>A (p.Trp317Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798008] |
Chr5:1293937 [GRCh38]
Chr5:1294052 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2526C>T (p.Cys842=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800222] |
Chr5:1268576 [GRCh38]
Chr5:1268691 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.89_98del (p.Arg30fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800257] |
Chr5:1294892..1294901 [GRCh38]
Chr5:1295007..1295016 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.3032+16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800286] |
Chr5:1258582 [GRCh38]
Chr5:1258697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.543C>G (p.Ala181=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800315] |
Chr5:1294343 [GRCh38]
Chr5:1294458 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.233A>G (p.Lys78Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800316] |
Chr5:1294653 [GRCh38]
Chr5:1294768 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.643G>A (p.Gly215Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808366] |
Chr5:1294243 [GRCh38]
Chr5:1294358 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.584G>C (p.Arg195Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800314] |
Chr5:1294302 [GRCh38]
Chr5:1294417 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2286+9C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799368] |
Chr5:1278632 [GRCh38]
Chr5:1278747 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-8G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809625] |
Chr5:1258667 [GRCh38]
Chr5:1258782 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3337A>C (p.Thr1113Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812788] |
Chr5:1253790 [GRCh38]
Chr5:1253905 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.666G>A (p.Arg222=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799519] |
Chr5:1294220 [GRCh38]
Chr5:1294335 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2709A>G (p.Thr903=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808657] |
Chr5:1264538 [GRCh38]
Chr5:1264653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2471C>G (p.Ser824Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809741] |
Chr5:1268631 [GRCh38]
Chr5:1268746 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3157+11G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813429] |
Chr5:1255276 [GRCh38]
Chr5:1255391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+13G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799588] |
Chr5:1255274 [GRCh38]
Chr5:1255389 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+11C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809765] |
Chr5:1278630 [GRCh38]
Chr5:1278745 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809847] |
Chr5:1253823 [GRCh38]
Chr5:1253938 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-6T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800718] |
Chr5:1282630 [GRCh38]
Chr5:1282745 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2287-8G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812263] |
Chr5:1272288 [GRCh38]
Chr5:1272403 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.36C>A (p.Ser12=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812345] |
Chr5:1294954 [GRCh38]
Chr5:1295069 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3341C>T (p.Ala1114Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798605] |
Chr5:1253786 [GRCh38]
Chr5:1253901 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2379G>T (p.Glu793Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800722] |
Chr5:1272188 [GRCh38]
Chr5:1272303 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2044G>C (p.Gly682Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808787] |
Chr5:1279377 [GRCh38]
Chr5:1279492 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.489_493del (p.Pro164fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799687] |
Chr5:1294393..1294397 [GRCh38]
Chr5:1294508..1294512 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2692G>C (p.Val898Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800817] |
Chr5:1264555 [GRCh38]
Chr5:1264670 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2059C>T (p.His687Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813635] |
Chr5:1279362 [GRCh38]
Chr5:1279477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2752del (p.Ala918fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809652] |
Chr5:1264495 [GRCh38]
Chr5:1264610 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2306T>A (p.Leu769His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801640] |
Chr5:1272261 [GRCh38]
Chr5:1272376 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1942G>A (p.Glu648Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800558] |
Chr5:1280166 [GRCh38]
Chr5:1280281 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1062G>C (p.Leu354=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801130] |
Chr5:1293824 [GRCh38]
Chr5:1293939 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-10C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003818060] |
Chr5:1268643 [GRCh38]
Chr5:1268758 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2380C>T (p.Gln794Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809225] |
Chr5:1272187 [GRCh38]
Chr5:1272302 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1132A>G (p.Arg378Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799558] |
Chr5:1293754 [GRCh38]
Chr5:1293869 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.714C>T (p.Pro238=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801995] |
Chr5:1294172 [GRCh38]
Chr5:1294287 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1205A>G (p.Gln402Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003818028] |
Chr5:1293681 [GRCh38]
Chr5:1293796 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2853G>A (p.Arg951=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808227] |
Chr5:1260591 [GRCh38]
Chr5:1260706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2459T>G (p.Ile820Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003818045] |
Chr5:1271128 [GRCh38]
Chr5:1271243 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3292A>C (p.Thr1098Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808242] |
Chr5:1254371 [GRCh38]
Chr5:1254486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3251del (p.Arg1084fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003817873] |
Chr5:1254412 [GRCh38]
Chr5:1254527 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-1G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801431] |
Chr5:1282625 [GRCh38]
Chr5:1282740 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3158-6C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801503] |
Chr5:1254511 [GRCh38]
Chr5:1254626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1574-16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812800] |
Chr5:1282640 [GRCh38]
Chr5:1282755 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2815A>C (p.Thr939Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812813] |
Chr5:1264432 [GRCh38]
Chr5:1264547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2469-13C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812906] |
Chr5:1268646 [GRCh38]
Chr5:1268761 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.633G>A (p.Gly211=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812915] |
Chr5:1294253 [GRCh38]
Chr5:1294368 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2971-15_2971-12del |
microsatellite |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798638] |
Chr5:1258671..1258674 [GRCh38]
Chr5:1258786..1258789 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.202G>A (p.Ala68Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799297] |
Chr5:1294788 [GRCh38]
Chr5:1294903 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003817914] |
Chr5:1264389 [GRCh38]
Chr5:1264504 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2469-13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800375] |
Chr5:1268646 [GRCh38]
Chr5:1268761 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.678C>T (p.Gly226=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810036] |
Chr5:1294208 [GRCh38]
Chr5:1294323 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2592G>C (p.Leu864=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809510] |
Chr5:1266526 [GRCh38]
Chr5:1266641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2216A>G (p.Tyr739Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800424] |
Chr5:1278711 [GRCh38]
Chr5:1278826 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2583-6T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800476] |
Chr5:1266541 [GRCh38]
Chr5:1266656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.360C>G (p.Arg120=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003818117] |
Chr5:1294526 [GRCh38]
Chr5:1294641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3096C>T (p.Phe1032=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799887] |
Chr5:1255348 [GRCh38]
Chr5:1255463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1554T>C (p.Ala518=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003817971] |
Chr5:1293332 [GRCh38]
Chr5:1293447 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1968G>C (p.Ser656=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801813] |
Chr5:1279453 [GRCh38]
Chr5:1279568 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.643G>C (p.Gly215Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813119] |
Chr5:1294243 [GRCh38]
Chr5:1294358 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1972G>T (p.Val658Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813326] |
Chr5:1279449 [GRCh38]
Chr5:1279564 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2350A>G (p.Ser784Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809382] |
Chr5:1272217 [GRCh38]
Chr5:1272332 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2843+13G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801492] |
Chr5:1264391 [GRCh38]
Chr5:1264506 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.587G>A (p.Arg196His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813511] |
Chr5:1294299 [GRCh38]
Chr5:1294414 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-16C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801535] |
Chr5:1260616 [GRCh38]
Chr5:1260731 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.110G>C (p.Arg37Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815311] |
Chr5:1294880 [GRCh38]
Chr5:1294995 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1050G>C (p.Leu350=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798452] |
Chr5:1293836 [GRCh38]
Chr5:1293951 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809688] |
Chr5:1282570 [GRCh38]
Chr5:1282685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.26C>T (p.Ala9Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798462] |
Chr5:1294964 [GRCh38]
Chr5:1295079 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2844-20C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798612] |
Chr5:1260620 [GRCh38]
Chr5:1260735 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1770-4G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808885] |
Chr5:1280342 [GRCh38]
Chr5:1280457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3198C>A (p.Pro1066=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813173] |
Chr5:1254465 [GRCh38]
Chr5:1254580 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-5dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813377] |
Chr5:1294670..1294671 [GRCh38]
Chr5:1294785..1294786 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_198253.3(TERT):c.591G>A (p.Leu197=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812321] |
Chr5:1294295 [GRCh38]
Chr5:1294410 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.646C>A (p.Leu216Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812416] |
Chr5:1294240 [GRCh38]
Chr5:1294355 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3340G>A (p.Ala1114Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812436] |
Chr5:1253787 [GRCh38]
Chr5:1253902 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2949C>T (p.His983=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799899] |
Chr5:1260495 [GRCh38]
Chr5:1260610 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2843+7G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801473] |
Chr5:1264397 [GRCh38]
Chr5:1264512 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3157+11G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800487] |
Chr5:1255276 [GRCh38]
Chr5:1255391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2172G>A (p.Arg724=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810064] |
Chr5:1278755 [GRCh38]
Chr5:1278870 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2008G>A (p.Ala670Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799890] |
Chr5:1279413 [GRCh38]
Chr5:1279528 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1887G>C (p.Gly629=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799987] |
Chr5:1280221 [GRCh38]
Chr5:1280336 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-20del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799633] |
Chr5:1294686 [GRCh38]
Chr5:1294801 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3037C>T (p.His1013Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812494] |
Chr5:1255407 [GRCh38]
Chr5:1255522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3296-4G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815503] |
Chr5:1253835 [GRCh38]
Chr5:1253950 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2583-10C>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815541] |
Chr5:1266545 [GRCh38]
Chr5:1266660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+1G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812700] |
Chr5:1279290 [GRCh38]
Chr5:1279405 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2817C>A (p.Thr939=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815465] |
Chr5:1264430 [GRCh38]
Chr5:1264545 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1350G>T (p.Gln450His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808942] |
Chr5:1293536 [GRCh38]
Chr5:1293651 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1649G>A (p.Ser550Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798797] |
Chr5:1282549 [GRCh38]
Chr5:1282664 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1182G>A (p.Leu394=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799816] |
Chr5:1293704 [GRCh38]
Chr5:1293819 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2654+1G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810011] |
Chr5:1266463 [GRCh38]
Chr5:1266578 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.3296-4G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003800995] |
Chr5:1253835 [GRCh38]
Chr5:1253950 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.135G>T (p.Ala45=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003812664] |
Chr5:1294855 [GRCh38]
Chr5:1294970 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1805C>A (p.Ser602Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808505] |
Chr5:1280303 [GRCh38]
Chr5:1280418 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1744A>T (p.Ser582Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003809538] |
Chr5:1282454 [GRCh38]
Chr5:1282569 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3296-16G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003801041] |
Chr5:1253847 [GRCh38]
Chr5:1253962 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.483G>T (p.Leu161=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813077] |
Chr5:1294403 [GRCh38]
Chr5:1294518 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-10A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813146] |
Chr5:1255421 [GRCh38]
Chr5:1255536 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.695T>G (p.Leu232Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003797903] |
Chr5:1294191 [GRCh38]
Chr5:1294306 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2346G>C (p.Glu782Asp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798986] |
Chr5:1272221 [GRCh38]
Chr5:1272336 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.433G>A (p.Gly145Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003813337] |
Chr5:1294453 [GRCh38]
Chr5:1294568 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1635G>A (p.Leu545=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003799632] |
Chr5:1282563 [GRCh38]
Chr5:1282678 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2286+18T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815384] |
Chr5:1278623 [GRCh38]
Chr5:1278738 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1587T>G (p.Val529=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808784] |
Chr5:1282611 [GRCh38]
Chr5:1282726 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.252G>C (p.Val84=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798042] |
Chr5:1294634 [GRCh38]
Chr5:1294749 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3087del (p.Thr1030fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003815434] |
Chr5:1255357 [GRCh38]
Chr5:1255472 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.2131-14C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003808889] |
Chr5:1278810 [GRCh38]
Chr5:1278925 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3324G>T (p.Pro1108=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003798238] |
Chr5:1253803 [GRCh38]
Chr5:1253918 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2790G>A (p.Trp930Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003810562] |
Chr5:1264457 [GRCh38]
Chr5:1264572 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.1823A>T (p.Gln608Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803755] |
Chr5:1280285 [GRCh38]
Chr5:1280400 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.300C>A (p.Gly100=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803969] |
Chr5:1294586 [GRCh38]
Chr5:1294701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.402C>G (p.Ser134Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802149] |
Chr5:1294484 [GRCh38]
Chr5:1294599 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1024C>T (p.Arg342Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803499] |
Chr5:1293862 [GRCh38]
Chr5:1293977 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.723C>G (p.Gly241=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003804014] |
Chr5:1294163 [GRCh38]
Chr5:1294278 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.584G>A (p.Arg195Lys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803562] |
Chr5:1294302 [GRCh38]
Chr5:1294417 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-7G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803580] |
Chr5:1282631 [GRCh38]
Chr5:1282746 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2496G>C (p.Pro832=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802345] |
Chr5:1268606 [GRCh38]
Chr5:1268721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1224C>T (p.Leu408=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803723] |
Chr5:1293662 [GRCh38]
Chr5:1293777 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1777T>C (p.Leu593=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803894] |
Chr5:1280331 [GRCh38]
Chr5:1280446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2304C>T (p.Asp768=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803036] |
Chr5:1272263 [GRCh38]
Chr5:1272378 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.934C>G (p.Arg312Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803082] |
Chr5:1293952 [GRCh38]
Chr5:1294067 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1574-20G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803105] |
Chr5:1282644 [GRCh38]
Chr5:1282759 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1557G>C (p.Trp519Cys) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802716] |
Chr5:1293329 [GRCh38]
Chr5:1293444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1471del (p.Thr491fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803550] |
Chr5:1293415 [GRCh38]
Chr5:1293530 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_198253.3(TERT):c.474C>T (p.Leu158=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802021] |
Chr5:1294412 [GRCh38]
Chr5:1294527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1695G>A (p.Glu565=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803313] |
Chr5:1282503 [GRCh38]
Chr5:1282618 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2087G>C (p.Arg696Pro) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802405] |
Chr5:1279334 [GRCh38]
Chr5:1279449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2582+13C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802436] |
Chr5:1268507 [GRCh38]
Chr5:1268622 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 |
copy number loss |
not specified [RCV003986544] |
Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 |
copy number loss |
not specified [RCV003986593] |
Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 |
copy number loss |
not specified [RCV003986597] |
Chr5:113576..7436985 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 |
copy number loss |
not specified [RCV003986599] |
Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 |
copy number loss |
not specified [RCV003986560] |
Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:113576-3612214)x1 |
copy number loss |
not specified [RCV003986564] |
Chr5:113576..3612214 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 |
copy number loss |
not specified [RCV003986589] |
Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_198253.3(TERT):c.1001C>T (p.Ser334Phe) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803069] |
Chr5:1293885 [GRCh38]
Chr5:1294000 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3391C>T (p.Leu1131=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803348] |
Chr5:1253736 [GRCh38]
Chr5:1253851 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2883C>T (p.Asn961=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802101] |
Chr5:1260561 [GRCh38]
Chr5:1260676 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.3033-13G>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802105] |
Chr5:1255424 [GRCh38]
Chr5:1255539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2130+2T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803273] |
Chr5:1279289 [GRCh38]
Chr5:1279404 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.1010A>G (p.Asp337Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803518] |
Chr5:1293876 [GRCh38]
Chr5:1293991 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3108C>T (p.Ile1036=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802425] |
Chr5:1255336 [GRCh38]
Chr5:1255451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.278C>A (p.Ala93Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802509] |
Chr5:1294608 [GRCh38]
Chr5:1294723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2383-9C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802668] |
Chr5:1271213 [GRCh38]
Chr5:1271328 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.776C>A (p.Pro259Gln) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802835] |
Chr5:1294110 [GRCh38]
Chr5:1294225 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2142G>C (p.Thr714=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802917] |
Chr5:1278785 [GRCh38]
Chr5:1278900 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.2970+1G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803039] |
Chr5:1260473 [GRCh38]
Chr5:1260588 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_198253.3(TERT):c.2904G>C (p.Arg968Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803163] |
Chr5:1260540 [GRCh38]
Chr5:1260655 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.3295+12T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003803396] |
Chr5:1254356 [GRCh38]
Chr5:1254471 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.104G>T (p.Gly35Val) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802702] |
Chr5:1294886 [GRCh38]
Chr5:1295001 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.2443C>T (p.His815Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802799] |
Chr5:1271144 [GRCh38]
Chr5:1271259 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.1245G>A (p.Leu415=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802745] |
Chr5:1293641 [GRCh38]
Chr5:1293756 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.1156T>A (p.Tyr386Asn) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 2 [RCV003802774] |
Chr5:1293730 [GRCh38]
Chr5:1293845 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.*10G>A |
single nucleotide variant |
TERT-related condition [RCV003954864] |
Chr5:1253718 [GRCh38]
Chr5:1253833 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.220-5C>A |
single nucleotide variant |
TERT-related condition [RCV003982624] |
Chr5:1294671 [GRCh38]
Chr5:1294786 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_198253.3(TERT):c.-3G>A |
single nucleotide variant |
TERT-related condition [RCV003898973] |
Chr5:1294992 [GRCh38]
Chr5:1295107 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_198253.3(TERT):c.-5C>A |
single nucleotide variant |
TERT-related condition [RCV003904520] |
Chr5:1294994 [GRCh38]
Chr5:1295109 [GRCh37]
Chr5:5p15.33 |
likely benign |
