Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	SNV Germline	Chr5:1294282	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 not specified Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122653	rs_121918661	21 SubmittersRCV000032398 RCV000013566 RCV000604322 RCV000758251 RCV000489117 RCV002255997 RCV004541000 RCV002513013
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	SNV Germline	Chr5:1293652	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Autosomal recessive dyskeratosis congenita 4 not specified Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita Melanoma, cutaneous malignant, susceptibility to, 9 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA122655	rs_34094720	14 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV003224095 RCV002513014
NM_198253.3(TERT):c.2080G>A (p.Val694Met)	SNV Germline	Chr5:1279341	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita Pulmonary fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA122657	rs_121918662	7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV004532332 RCV004558246 RCV002509152 RCV003441715
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	SNV Germline	Chr5:1266524	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Interstitial lung disease 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA122665	rs_121918666	7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002513016 RCV003460466 RCV002509153
NM_198253.3(TERT):c.219+1G>A	SNV Germline	Chr5:1294770	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Interstitial lung disease 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter	CA122668	rs_199422309	3 SubmittersRCV000013575 RCV000032380 RCV002513017
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	SNV Germline	Chr5:1280216	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Interstitial lung disease 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Telomere syndrome Pulmonary fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA128724	rs_199422294	9 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV002513175 RCV003150932 RCV003325404 RCV002509167 RCV004558270
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	SNV Germline	Chr5:1271156	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal recessive 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA128727	rs_199422301	5 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	SNV Germline	Chr5:1264546	Conflicting classifications of pathogenicity	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal recessive 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA128729	rs_199422304	4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271
NM_198253.3(TERT):c.2371G>A (p.Val791Ile)	SNV Germline	Chr5:1272196	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA044696	rs_141425941	5 SubmittersRCV001549913 RCV002518376 RCV003992244 RCV003325196
NM_198253.3(TERT):c.2599G>A (p.Val867Met)	SNV Germline	Chr5:1266519	Pathogenic/Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Pulmonary fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_201159197	2 SubmittersRCV002518411 RCV002327153 RCV002509334
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	SNV Germline	Chr5:1278781	Pathogenic/Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA129984	rs_387907249	5 SubmittersRCV000030629 RCV002513272 RCV003447479
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	SNV Germline	Chr5:1264479	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129988	rs_387907251	5 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)	SNV Germline	Chr5:1293430	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA343424	rs_199422293	4 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004558276 RCV002509174
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV Germline	Chr5:1279311	Pathogenic/Likely pathogenic	Autosomal recessive dyskeratosis congenita 4 Dyskeratosis congenita, autosomal dominant 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA128731	rs_199422297	8 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV003460537 RCV002509175 RCV003103717 RCV004558278
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	SNV Germline	Chr5:1278780	Pathogenic/Likely pathogenic	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA343437	rs_199422298	6 SubmittersRCV000032376 RCV002514132 RCV001576802 RCV004558279
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV Germline	Chr5:1278750	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 1 Interstitial lung disease 2 not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA343442	rs_149566858	8 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	SNV Germline	Chr5:1254479	Conflicting classifications of pathogenicity	Leukemia, acute myeloid, susceptibility to Aplastic anemia not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Breast carcinoma Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA129990	rs_35719940	18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000395635 RCV000305704 RCV001262530 RCV001573195 RCV002513302 RCV004558282
NM_198253.3(TERT):c.430G>A (p.Val144Met)	SNV Germline	Chr5:1294456	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis	Criteria Provided Conflicting Classifications	CA343461	rs_199422291	5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178
NM_198253.3(TERT):c.3105C>T (p.Val1035=)	SNV Germline	Chr5:1255339	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA178124	rs_181612536	13 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)	SNV Germline	Chr5:1279431	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Myelodysplasia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA208776	rs_797046042	5 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822
NM_198253.3(TERT):c.834C>A (p.Pro278=)	SNV Germline	Chr5:1294052	Conflicting classifications of pathogenicity	not specified Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184905	rs_375423906	4 SubmittersRCV000218700 RCV001152947 RCV001155583 RCV001152948 RCV002517511 RCV004558465
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)	SNV Germline	Chr5:1253794	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184210	rs_200102606	5 SubmittersRCV000501447 RCV001158196 RCV001158197 RCV001158198 RCV001668401 RCV002518383 RCV004558598
NM_198253.3(TERT):c.2991G>A (p.Val997=)	SNV Germline	Chr5:1258639	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184323	rs_376266401	6 SubmittersRCV001154848 RCV001154849 RCV001156515 RCV001820782 RCV002255342 RCV003103748 RCV003316312
NM_198253.3(TERT):c.2971-10G>T	SNV Germline	Chr5:1258669	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA10582350	rs_878855303	4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460
NM_198253.3(TERT):c.2769G>A (p.Pro923=)	SNV Germline	Chr5:1264478	Conflicting classifications of pathogenicity	not specified Condition: not provided Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184401	rs_200174990	6 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311
NM_198253.3(TERT):c.2255A>G (p.His752Arg)	SNV Germline	Chr5:1278672	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184618	rs_375699185	4 SubmittersRCV000502003 RCV002255341 RCV002519811
NM_198253.3(TERT):c.2127C>G (p.Val709=)	SNV Germline	Chr5:1279294	Conflicting classifications of pathogenicity	not specified Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184667	rs_765264494	5 SubmittersRCV000503916 RCV001154529 RCV001151517 RCV001151518 RCV003437032 RCV002518373 RCV004558594
NM_198253.3(TERT):c.2106G>A (p.Pro702=)	SNV Germline	Chr5:1279315	Conflicting classifications of pathogenicity	not specified Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184671	rs_151055240	13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr5:1279323	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter	CA10582353	rs_878855300	1 SubmittersRCV002518371
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)	SNV Germline	Chr5:1279420	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184691	rs_758494245	6 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)	SNV Germline	Chr5:1280172	Conflicting classifications of pathogenicity	Condition: not provided not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184723	rs_147521473	5 SubmittersRCV001775705 RCV001820780 RCV002256176 RCV002518369 RCV003469172
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)	SNV Germline	Chr5:1293550	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184855	rs_567650961	7 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr5:1293555	Conflicting classifications of pathogenicity	Acute myeloid leukemia Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10582362	rs_878855299	4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590
NM_198253.3(TERT):c.-57A>C	SNV Germline/somatic	Chr5:1295046	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Condition: not provided Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 not specified	Criteria Provided Conflicting Classifications	CA10582367	rs_878855297	8 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004558587
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	SNV Germline	Chr5:1280259	Conflicting classifications of pathogenicity	not specified Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184742	rs_140951453	8 SubmittersRCV000244189 RCV000336462 RCV000287182 RCV000372475 RCV001580477 RCV002518668 RCV004558609 RCV003316456
NM_198253.3(TERT):c.1769+16G>A	SNV Germline	Chr5:1282413	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184775	rs_202108457	3 SubmittersRCV000248852 RCV003105841 RCV004558608
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)	SNV Germline	Chr5:1271132	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA10588390	rs_746621306	3 SubmittersRCV000256149 RCV002256186 RCV002518756
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)	SNV Germline	Chr5:1282498	Likely pathogenic	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts	CA10588391	rs_886039438	3 SubmittersRCV000255577 RCV002518755 RCV004558612
NM_198253.3(TERT):c.887A>C (p.His296Pro)	SNV Germline	Chr5:1293999	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 7 conditions Hepatocellular carcinoma not specified Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184895	rs_778187343	6 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000765804 RCV000503276 RCV001820800 RCV002305476 RCV002518795
NM_198253.3(TERT):c.150G>A (p.Leu50=)	SNV Germline	Chr5:1294840	Conflicting classifications of pathogenicity	Condition: not provided 7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA10606413	rs_886044153	5 SubmittersRCV000385403 RCV000764569 RCV002518081 RCV004543126 RCV004558615
NM_198253.3(TERT):c.2781A>G (p.Leu927=)	SNV Germline	Chr5:1264466	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184396	rs_370292237	3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620
NM_198253.3(TERT):c.2391C>G (p.Ser797=)	SNV Germline	Chr5:1271196	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184524	rs_377216965	7 SubmittersRCV000291722 RCV000328047 RCV000381346 RCV001584066 RCV002255373 RCV001821074 RCV002520301
NM_198253.3(TERT):c.219+7C>T	SNV Germline	Chr5:1294764	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 not specified Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3185020	rs_573817924	8 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 RCV004544655 RCV004559045
NM_198253.3(TERT):c.2654+10G>A	SNV Germline	Chr5:1266454	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184437	rs_375473823	3 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	SNV Germline	Chr5:1255294	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia not specified Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184275	rs_373400596	6 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498
NM_198253.3(TERT):c.2886C>T (p.Arg962=)	SNV Germline	Chr5:1260558	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184349	rs_542440625	3 SubmittersRCV000283455 RCV000319818 RCV000374647 RCV002523499 RCV004558619
NM_198253.3(TERT):c.663G>T (p.Ala221=)	SNV Germline	Chr5:1294223	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184933	rs_35837567	3 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV002520303
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	SNV Germline	Chr5:1294314	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184953	rs_11952056	8 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV001821075 RCV002257653 RCV002520304 RCV003137968 RCV004530415 RCV003316499
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)	SNV Germline	Chr5:1278786	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA3184642	rs_772441504	4 SubmittersRCV002525587 RCV003150818 RCV003150819 RCV004559084 RCV003233642
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	SNV Germline	Chr5:1279410	Conflicting classifications of pathogenicity	Condition: not provided Hoyeraal-Hreidarsson syndrome Autosomal recessive dyskeratosis congenita 4 Autosomal recessive dyskeratosis congenita 4 Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Telomere syndrome Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16611699	rs_1060503011	7 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV002523341 RCV003325407 RCV004559086
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	SNV Germline	Chr5:1280177	Conflicting classifications of pathogenicity	Chronic obstructive pulmonary disease Decreased circulating antibody level Chronic diarrhea Immunodeficiency Condition: not provided 7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184726	rs_201927653	6 SubmittersRCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)	SNV Germline	Chr5:1271122	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184512	rs_757820442	2 SubmittersRCV002523340 RCV004568061
NM_198253.3(TERT):c.2130+10G>A	SNV Germline	Chr5:1279281	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided Dyskeratosis congenita TERT-related disorder Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184663	rs_373879259	6 SubmittersRCV000502349 RCV001151514 RCV001151515 RCV001151516 RCV001536535 RCV004559102 RCV004541500 RCV002526490
NM_198253.3(TERT):c.1974G>A (p.Val658=)	SNV Germline	Chr5:1279447	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia not specified Dyskeratosis congenita Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184695	rs_778496417	7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV001821371 RCV002257755 RCV003431033 RCV002525684 RCV004541497
NM_198253.3(TERT):c.673G>C (p.Gly225Arg)	SNV Germline	Chr5:1294213	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA16611921	rs_1060502999	2 SubmittersRCV003103781 RCV004559076
NM_198253.3(TERT):c.2329G>A (p.Val777Met)	SNV Germline	Chr5:1272238	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA359076368	rs_1554040129	3 SubmittersRCV000500578 RCV003766854 RCV004535624
NM_198253.3(TERT):c.2301A>G (p.Thr767=)	SNV Germline	Chr5:1272266	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA112944751	rs_374592280	5 SubmittersRCV000500257 RCV002524308 RCV003437237 RCV004559133 RCV004535623
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)	SNV Germline	Chr5:1279410	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359080693	rs_1060503011	2 SubmittersRCV000502929 RCV002524314
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)	SNV Germline	Chr5:1293424	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184839	rs_746216837	2 SubmittersRCV000502511 RCV002524311
NM_198253.3(TERT):c.943C>A (p.Arg315Ser)	SNV Germline	Chr5:1293943	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056111	rs_1554042911	3 SubmittersRCV000503974 RCV002524312 RCV004559136
NM_198253.3(TERT):c.264G>C (p.Leu88=)	SNV Germline	Chr5:1294622	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184998	rs_768398792	3 SubmittersRCV000502707 RCV002527298 RCV004559135
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)	SNV Germline	Chr5:1294527	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359058195	rs_1554043083	3 SubmittersRCV000507795 RCV003766883 RCV004559141
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)	SNV Germline	Chr5:1260497	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA359069737	rs_1554038803	4 SubmittersRCV000509390 RCV002231191 RCV002527380
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)	SNV Germline	Chr5:1272247	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_770066110	2 SubmittersRCV000677346 RCV002525003
NM_198253.3(TERT):c.2287-5G>A	SNV Germline	Chr5:1272285	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 7 conditions Condition: not provided not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications		rs_561426406	7 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 RCV002525004 RCV003476211 RCV004535664
NM_198253.3(TERT):c.2580C>T (p.Asp860=)	SNV Germline	Chr5:1268522	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184461	rs_751752830	3 SubmittersRCV001153601 RCV001153600 RCV001153599 RCV002530145 RCV004559199
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)	SNV Germline	Chr5:1272214	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184560	rs_755822641	2 SubmittersRCV002466532 RCV002530136
NM_198253.3(TERT):c.1937G>A (p.Arg646His)	SNV Germline	Chr5:1280171	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359081026	rs_779338296	2 SubmittersRCV002530114 RCV004559182
NM_198253.3(TERT):c.2286C>T (p.His762=)	SNV Germline	Chr5:1278641	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184610	rs_768062052	2 SubmittersRCV002530135 RCV004543198
NM_198253.3(TERT):c.2185A>G (p.Ile729Val)	SNV Germline	Chr5:1278742	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184631	rs_753929279	4 SubmittersRCV002530130 RCV003228951 RCV004538046 RCV004559189
NM_198253.3(TERT):c.1939A>C (p.Arg647=)	SNV Germline	Chr5:1280169	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184721	rs_144821759	3 SubmittersRCV001157056 RCV001253988 RCV001157055 RCV002530115 RCV004559183
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)	SNV Germline	Chr5:1280279	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184746	rs_776763536	3 SubmittersRCV003431098 RCV002530109 RCV004559181
NM_198253.3(TERT):c.779G>A (p.Gly260Asp)	SNV Germline	Chr5:1294107	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia	Criteria Provided Conflicting Classifications	CA3184914	rs_148798048	4 SubmittersRCV002255455 RCV002260647 RCV002530175 RCV003333079
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	SNV Germline	Chr5:1294797	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3185021	rs_544215765	6 SubmittersRCV001254604 RCV002256385 RCV002530117 RCV003236816
NM_198253.3(TERT):c.2885G>A (p.Arg962His)	SNV Germline	Chr5:1260559	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184350	rs_759490631	3 SubmittersRCV003230269 RCV002530154 RCV004559205
NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)	SNV Germline	Chr5:1264581	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA112938010	rs_532158398	2 SubmittersRCV002530148 RCV004559201
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr5:1279464	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184698	rs_372272356	2 SubmittersRCV002530120 RCV003470764
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)	SNV Germline	Chr5:1253825	Conflicting classifications of pathogenicity	Dyskeratosis congenita Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184216	rs_764602705	4 SubmittersRCV002256386 RCV002307542 RCV002530163
NM_198253.3(TERT):c.2652C>T (p.Leu884=)	SNV Germline	Chr5:1266466	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184439	rs_374309472	3 SubmittersRCV001770465 RCV002530147 RCV004559200
NM_198253.3(TERT):c.1269C>T (p.Ala423=)	SNV Germline	Chr5:1293617	Conflicting classifications of pathogenicity	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184862	rs_190411812	5 SubmittersRCV001155486 RCV001155485 RCV001155487 RCV001821573 RCV002530096 RCV003992323 RCV004559172
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	SNV Germline	Chr5:1294048	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Condition: not provided not specified Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA3184904	rs_199701877	8 SubmittersRCV000987502 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717
NM_198253.3(TERT):c.645C>T (p.Gly215=)	SNV Germline	Chr5:1294241	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184937	rs_768426236	7 SubmittersRCV001157267 RCV001157266 RCV001157268 RCV001529708 RCV001821579 RCV002530173 RCV004559217
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)	SNV Germline	Chr5:1260508	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184345	rs_765566930	4 SubmittersRCV000604673 RCV000855405 RCV002529360
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)	SNV Germline	Chr5:1255355	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184291	rs_377419542	3 SubmittersRCV002533393 RCV004559292 RCV004533396
NM_198253.3(TERT):c.2523C>G (p.Leu841=)	SNV Germline	Chr5:1268579	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359074714	rs_1554039733	3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV002533405 RCV004559304
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)	SNV Germline	Chr5:1279467	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 7 conditions Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359080888	rs_1228165704	5 SubmittersRCV002533379 RCV003472038 RCV002485456 RCV003153788 RCV004559285
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)	SNV Germline	Chr5:1260560	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184351	rs_144697790	3 SubmittersRCV002533382 RCV003228970 RCV004568447
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)	SNV Germline	Chr5:1278699	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications	CA3184621	rs_768168259	3 SubmittersRCV001816611 RCV002255492 RCV002533373
NM_198253.3(TERT):c.2689G>A (p.Val897Met)	SNV Germline	Chr5:1264558	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184415	rs_559028617	2 SubmittersRCV002533383 RCV004533394
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)	SNV Germline	Chr5:1268529	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications	CA3184463	rs_144779807	3 SubmittersRCV002533386 RCV004544885 RCV004568449
NM_198253.3(TERT):c.3117G>A (p.Thr1039=)	SNV Germline	Chr5:1255327	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184281	rs_773595628	3 SubmittersRCV001816610 RCV002533372 RCV004559282
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)	SNV Germline	Chr5:1293493	Conflicting classifications of pathogenicity	7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications	CA3184848	rs_758110675	4 SubmittersRCV000765803 RCV002533376 RCV003236829 RCV004544884
NM_198253.3(TERT):c.892T>A (p.Ser298Thr)	SNV Germline	Chr5:1293994	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359056279	rs_1334806555	2 SubmittersRCV002533374 RCV004559283
NM_198253.3(TERT):c.863C>T (p.Ala288Val)	SNV Germline	Chr5:1294023	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Condition: not provided 7 conditions Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA3184898	rs_774657340	7 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287
NM_198253.3(TERT):c.751G>A (p.Val251Ile)	SNV Germline	Chr5:1294135	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184920	rs_776569822	2 SubmittersRCV003103822 RCV003328616
NM_198253.3(TERT):c.189G>A (p.Arg63=)	SNV Germline	Chr5:1294801	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA443005624	rs_1554043134	3 SubmittersRCV001153059 RCV001153060 RCV001153061 RCV002530518 RCV004559306
NM_198253.3(TERT):c.1526C>T (p.Thr509Met)	SNV Germline	Chr5:1293360	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications	CA359085170	rs_1554042799	2 SubmittersRCV002533362 RCV004559276
NM_198253.3(TERT):c.569C>T (p.Ala190Val)	SNV Germline	Chr5:1294317	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA3184954	rs_781435225	4 SubmittersRCV001334733 RCV002533389 RCV003325507
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr5:1280265	Conflicting classifications of pathogenicity	Condition: not provided not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_112614087	3 SubmittersRCV000659010 RCV001816660 RCV002534308
NM_198253.3(TERT):c.1450G>C (p.Glu484Gln)	SNV Germline	Chr5:1293436	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1561213355	2 SubmittersRCV002533479 RCV004559621
NM_198253.3(TERT):c.702G>C (p.Leu234Phe)	SNV Germline	Chr5:1294184	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_754359147	3 SubmittersRCV001775147 RCV002532334
NM_198253.3(TERT):c.553C>T (p.Arg185Trp)	SNV Germline	Chr5:1294333	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_770436206	3 SubmittersRCV002544769 RCV003388593 RCV004559353
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)	SNV Germline	Chr5:1294810	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1554043139	1 SubmittersRCV002544806
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)	SNV Germline	Chr5:1266527	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Telomere syndrome	Criteria Provided Conflicting Classifications		rs_1561194110	3 SubmittersRCV001816730 RCV002533689 RCV003325408
NM_198253.3(TERT):c.2432G>A (p.Arg811His)	SNV Germline	Chr5:1271155	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_552708120	2 SubmittersRCV002533539 RCV003222108
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)	SNV Germline	Chr5:1293861	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_773366454	2 SubmittersRCV002547117 RCV004559356
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)	SNV Germline	Chr5:1255328	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_763381198	2 SubmittersRCV002256472 RCV002531489
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)	SNV Germline	Chr5:1278664	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_576633619	4 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120
NM_198253.3(TERT):c.554G>T (p.Arg185Leu)	SNV Germline	Chr5:1294332	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_749187042	2 SubmittersRCV002534379 RCV004559625
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)	SNV Germline	Chr5:1253781	Conflicting classifications of pathogenicity	TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1196160200	3 SubmittersRCV004540104 RCV002534659 RCV004559670
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)	SNV Germline	Chr5:1253804	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_376255453	4 SubmittersRCV001152719 RCV001152717 RCV001152718 RCV002534874 RCV003233860
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)	SNV Germline	Chr5:1253817	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1579541768	2 SubmittersRCV002534746 RCV004559675
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	SNV Germline	Chr5:1254476	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_938938578	4 SubmittersRCV002508262 RCV002534853 RCV002509553 RCV004569706
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)	SNV Germline	Chr5:1271138	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_778051907	3 SubmittersRCV002534756 RCV004559676 RCV004569603
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)	SNV Germline	Chr5:1278679	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1579574831	2 SubmittersRCV002535502 RCV004559700
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)	SNV Germline	Chr5:1278706	Conflicting classifications of pathogenicity	not specified Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_150819225	3 SubmittersRCV001816876 RCV002537289 RCV004569650
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)	SNV Germline	Chr5:1279313	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_564647937	3 SubmittersRCV001250511 RCV002537414 RCV004559695
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	SNV Germline	Chr5:1279316	Likely pathogenic	Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_754809046	2 SubmittersRCV002509550 RCV002538055
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)	SNV Germline	Chr5:1279368	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1579575848	1 SubmittersRCV002535497
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)	SNV Germline	Chr5:1280244	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_1579577192	2 SubmittersRCV002534884 RCV003229867
NM_198253.3(TERT):c.1692G>A (p.Thr564=)	SNV Germline	Chr5:1282506	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided TERT-related disorder	Criteria Provided Conflicting Classifications		rs_377217777	3 SubmittersRCV002538048 RCV003432774 RCV004528305
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)	SNV Germline	Chr5:1293334	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_551522837	3 SubmittersRCV002256553 RCV003103847
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)	SNV Germline	Chr5:1293436	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1561213355	1 SubmittersRCV002538152
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)	SNV Germline	Chr5:1293563	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1213914911	2 SubmittersRCV004559663 RCV002534602
NM_198253.3(TERT):c.895G>A (p.Val299Met)	SNV Germline	Chr5:1293991	Conflicting classifications of pathogenicity	7 conditions Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_756624928	2 SubmittersRCV002477800 RCV002536948
NM_198253.3(TERT):c.737C>T (p.Pro246Leu)	SNV Germline	Chr5:1294149	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_377315722	2 SubmittersRCV002535442 RCV004559696
NM_198253.3(TERT):c.719G>A (p.Arg240His)	SNV Germline	Chr5:1294167	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_751231538	2 SubmittersRCV002535469 RCV004559698
NM_198253.3(TERT):c.688C>T (p.Arg230Ter)	SNV Germline	Chr5:1294198	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_989271195	1 SubmittersRCV002538017
NM_198253.3(TERT):c.567C>A (p.His189Gln)	SNV Germline	Chr5:1294319	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_747935528	3 SubmittersRCV002538019 RCV003332255 RCV004559667
NM_198253.3(TERT):c.566A>G (p.His189Arg)	SNV Germline	Chr5:1294320	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_769638625	2 SubmittersRCV002537390 RCV004559691
NM_198253.3(TERT):c.1590G>C (p.Pro530=)	SNV Germline	Chr5:1282608	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1396912668	2 SubmittersRCV000826056 RCV003768563
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)	SNV Germline	Chr5:1254396	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita TERT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_759883263	6 SubmittersRCV001816988 RCV002539055 RCV002256570 RCV004538288 RCV004569802
NM_198253.3(TERT):c.2469-9C>T	SNV Germline	Chr5:1268642	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_764029536	2 SubmittersRCV002258012 RCV002538978
NM_198253.3(TERT):c.2187C>T (p.Ile729=)	SNV Germline	Chr5:1278740	Conflicting classifications of pathogenicity	not specified TERT-related disorder Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_200819224	4 SubmittersRCV001817036 RCV004530847 RCV002539221 RCV004559753
NM_198253.3(TERT):c.3296-5C>T	SNV Germline	Chr5:1253836	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_371015305	2 SubmittersRCV001817041 RCV002540025
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)	SNV Germline	Chr5:1254412	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_765787352	2 SubmittersRCV002554514 RCV004559893
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)	SNV Germline	Chr5:1260592	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_755707625	2 SubmittersRCV002552581 RCV004559859
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	SNV Germline	Chr5:1260593	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_370445231	4 SubmittersRCV002253765 RCV002551377 RCV004536066 RCV004559843
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)	SNV Germline	Chr5:1264543	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1748461171	1 SubmittersRCV002554599
NM_198253.3(TERT):c.2145C>T (p.Gly715=)	SNV Germline	Chr5:1278782	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_769467251	4 SubmittersRCV002290572 RCV002258103 RCV002552631
NM_198253.3(TERT):c.2015G>A (p.Arg672His)	SNV Germline	Chr5:1279406	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1353891039	2 SubmittersRCV002553072 RCV003473622
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)	SNV Germline	Chr5:1282455	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1750086002	1 SubmittersRCV003103904
NM_198253.3(TERT):c.1580G>T (p.Gly527Val)	SNV Germline	Chr5:1282618	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1006357203	2 SubmittersRCV002555892 RCV004559900
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)	SNV Germline	Chr5:1293448	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_917650159	2 SubmittersRCV002553196 RCV004559863
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr5:1293547	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1304418053	2 SubmittersRCV002552511 RCV003467728
NM_198253.3(TERT):c.976G>A (p.Ala326Thr)	SNV Germline	Chr5:1293910	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1030156757	3 SubmittersRCV002298867 RCV002555899 RCV004559901
NM_198253.3(TERT):c.820T>A (p.Ser274Thr)	SNV Germline	Chr5:1294066	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751200603	2 SubmittersRCV002553844 RCV004559882
NM_198253.3(TERT):c.776C>T (p.Pro259Leu)	SNV Germline	Chr5:1294110	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_775613951	2 SubmittersRCV002553335 RCV004559875
NM_198253.3(TERT):c.2382+1G>C	SNV Germline	Chr5:1272184	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1749089374	1 SubmittersRCV002552073
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)	SNV Germline	Chr5:1266479	Conflicting classifications of pathogenicity	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1748613384	3 SubmittersRCV001093474 RCV002554874
NM_198253.3(TERT):c.1401C>T (p.Ala467=)	SNV Germline	Chr5:1293485	Conflicting classifications of pathogenicity	Aplastic anemia Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751126189	3 SubmittersRCV001154650 RCV001154652 RCV001154651 RCV002557323 RCV004559907
NM_198253.3(TERT):c.696G>T (p.Leu232=)	SNV Germline	Chr5:1294190	Conflicting classifications of pathogenicity	Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1033402019	2 SubmittersRCV001155588 RCV001155589 RCV001155587 RCV002559498
NM_198253.3(TERT):c.483G>C (p.Leu161=)	SNV Germline	Chr5:1294403	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_755155708	2 SubmittersRCV001153058 RCV001151814 RCV001151815 RCV002557276
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)	SNV Germline	Chr5:1294656	Conflicting classifications of pathogenicity	Abnormal pulmonary interstitial morphology Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1751271544	4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	SNV Germline	Chr5:1264435	Likely pathogenic	Abnormal pulmonary interstitial morphology Macrocytic anemia Premature graying of hair Short telomere length Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1422814635	5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV002559651 RCV004559909
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	SNV Germline	Chr5:1280217	Pathogenic/Likely pathogenic	Acute myeloid leukemia Condition: not provided Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1194223999	5 SubmittersRCV001172450 RCV001819876 RCV002509622 RCV002558734 RCV004559910
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	SNV Germline	Chr5:1266480	Pathogenic/Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_1748613571	4 SubmittersRCV001819918 RCV003150823 RCV003150824 RCV003770256
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)	SNV Germline	Chr5:1254452	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1747568641	1 SubmittersRCV002561656
NM_198253.3(TERT):c.3001A>G (p.Ile1001Val)	SNV Germline	Chr5:1258629	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1747930001	2 SubmittersRCV002561098 RCV004559922
NM_198253.3(TERT):c.1824G>T (p.Gln608His)	SNV Germline	Chr5:1280284	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_769540249	2 SubmittersRCV003103930 RCV003324819
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr5:1293594	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1164823749	2 SubmittersRCV002561184 RCV004559926
NM_198253.3(TERT):c.2382+3C>A	SNV Germline	Chr5:1272182	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications		rs_1579564797	2 SubmittersRCV002562338 RCV004545125
NM_198253.3(TERT):c.1574-1G>A	SNV Germline	Chr5:1282625	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_1750106866	1 SubmittersRCV002563064
NM_198253.3(TERT):c.2637C>G (p.His879Gln)	SNV Germline	Chr5:1266481	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1307380469	2 SubmittersRCV002563161 RCV004557461
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)	SNV Germline	Chr5:1268526	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_755183437	2 SubmittersRCV002563844 RCV004557474
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)	SNV Germline	Chr5:1293843	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1279397908	3 SubmittersRCV002256713 RCV002563174
NM_198253.3(TERT):c.802C>T (p.Arg268Cys)	SNV Germline	Chr5:1294084	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_749827230	2 SubmittersRCV002563792 RCV004557465
NM_198253.3(TERT):c.686G>A (p.Ser229Asn)	SNV Germline	Chr5:1294200	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1751217170	2 SubmittersRCV002563843 RCV004557472
NM_198253.3(TERT):c.162C>A (p.Cys54Ter)	SNV Germline	Chr5:1294828	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_1751289309	1 SubmittersRCV002563175
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)	SNV Germline	Chr5:1293552	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_956854933	3 SubmittersRCV002564118 RCV004545150 RCV004557488
NM_198253.3(TERT):c.777G>A (p.Pro259=)	SNV Germline	Chr5:1294109	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_746036694	3 SubmittersRCV002256723 RCV002568661
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)	SNV Germline	Chr5:1271168	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_1169312254	3 SubmittersRCV001267800 RCV003229617 RCV002568705
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)	SNV Germline	Chr5:1266525	Conflicting classifications of pathogenicity	Condition: not provided Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_372868296	3 SubmittersRCV001268086 RCV002541635 RCV004557498
NM_198253.3(TERT):c.2764A>T (p.Met922Leu)	SNV Germline	Chr5:1264483	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_554229004	2 SubmittersRCV002539471 RCV004557519
NM_198253.3(TERT):c.2130+4G>T	SNV Germline	Chr5:1279287	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications		rs_762332544	2 SubmittersRCV002543198 RCV004531089
NM_198253.3(TERT):c.965C>T (p.Pro322Leu)	SNV Germline	Chr5:1293921	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1438162956	2 SubmittersRCV002543194 RCV004557524
NM_198253.3(TERT):c.2912G>A (p.Arg971His)	SNV Germline	Chr5:1260532	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Pulmonary fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1748153358	3 SubmittersRCV002327692 RCV002543591 RCV002509657 RCV003447587
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)	SNV Germline	Chr5:1293403	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1561213308	2 SubmittersRCV002543728 RCV004557533
NM_198253.3(TERT):c.2286+1G>A	SNV Germline	Chr5:1278640	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Multiple Submitters No Conflicts		rs_1749780301	2 SubmittersRCV002675447 RCV004558797
NM_198253.3(TERT):c.1364A>T (p.His455Leu)	SNV Germline	Chr5:1293522	Conflicting classifications of pathogenicity	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Conflicting Classifications		rs_781329984	2 SubmittersRCV002329318 RCV002546931
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)	SNV Germline	Chr5:1280256	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_995777798	2 SubmittersRCV002550144 RCV004557574
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)	SNV Germline	Chr5:1258604	Likely pathogenic	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts		rs_866575708	2 SubmittersRCV001376142 RCV002550227
NM_198253.3(TERT):c.2970+2T>G	SNV Germline	Chr5:1260472	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_2126584187	1 SubmittersRCV002550253
NM_198253.3(TERT):c.1719C>G (p.Leu573=)	SNV Germline	Chr5:1282479	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_978808687	3 SubmittersRCV001820094 RCV002552678 RCV004557592
NM_198253.3(TERT):c.1380G>A (p.Gln460=)	SNV Germline	Chr5:1293506	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_754992012	3 SubmittersRCV001820097 RCV002552699 RCV004557595
NM_198253.3(TERT):c.696G>A (p.Leu232=)	SNV Germline	Chr5:1294190	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1033402019	3 SubmittersRCV001820107 RCV002554015 RCV004557610
NM_198253.3(TERT):c.688C>A (p.Arg230=)	SNV Germline	Chr5:1294198	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_989271195	3 SubmittersRCV001820127 RCV002555537 RCV004557643
NM_198253.3(TERT):c.456G>C (p.Leu152=)	SNV Germline	Chr5:1294430	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_757121533	3 SubmittersRCV002256771 RCV002555511
NM_198253.3(TERT):c.3048G>A (p.Val1016=)	SNV Germline	Chr5:1255396	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1454370746	3 SubmittersRCV001820156 RCV002560370 RCV004557678
NM_198253.3(TERT):c.2131-16G>A	SNV Germline	Chr5:1278812	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_146768484	2 SubmittersRCV002540730 RCV003237483
NM_198253.3(TERT):c.329G>C (p.Gly110Ala)	SNV Germline	Chr5:1294557	Conflicting classifications of pathogenicity	Condition: not provided Pulmonary fibrosis Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_1751262771	3 SubmittersRCV001806957 RCV002509702 RCV002542371
NM_198253.3(TERT):c.2844-12C>A	SNV Germline	Chr5:1260612	Conflicting classifications of pathogenicity	not specified Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_199765802	2 SubmittersRCV001817430 RCV002542532
NM_198253.3(TERT):c.3157+1G>T	SNV Germline	Chr5:1255286	Likely pathogenic	Condition: not provided Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Multiple Submitters No Conflicts		rs_2126562296	2 SubmittersRCV001817788 RCV003772338
NM_198253.3(TERT):c.247C>T (p.Arg83Ter)	SNV Germline	Chr5:1294639	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter		rs_867642414	1 SubmittersRCV002552829
NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)	SNV Germline	Chr5:1264501	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_1189683846	2 SubmittersRCV002548055 RCV004558679
NM_198253.3(TERT):c.767G>A (p.Trp256Ter)	SNV Germline	Chr5:1294119	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_2126687935	1 SubmittersRCV002557880
NM_198253.3(TERT):c.77C>T (p.Thr26Met)	SNV Germline	Chr5:1294913	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_760727529	2 SubmittersRCV002550983 RCV004558685
NM_198253.3(TERT):c.598G>T (p.Glu200Ter)	SNV Germline	Chr5:1294288	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_1322987070	1 SubmittersRCV002555249
NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)	SNV Germline	Chr5:1272214	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications		rs_755822641	2 SubmittersRCV002545543 RCV004558803
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)	SNV Germline	Chr5:1255326	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Telomere syndrome	Criteria Provided Single Submitter		rs_770144114	2 SubmittersRCV002579662 RCV003325413
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)	SNV Germline	Chr5:1282586	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter		rs_2126649912	1 SubmittersRCV002562752
NM_198253.3(TERT):c.2844-12C>T	SNV Germline	Chr5:1260612	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_199765802	2 SubmittersRCV002256898 RCV002551298
NM_198253.3(TERT):c.3033-13G>A	SNV Germline	Chr5:1255424	Conflicting classifications of pathogenicity	Dyskeratosis congenita Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Conflicting Classifications		rs_746630679	2 SubmittersRCV002256916 RCV003015311
NM_198253.3(TERT):c.3018G>C (p.Leu1006=)	SNV Germline	Chr5:1258612	Conflicting classifications of pathogenicity	Dyskeratosis congenita Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder	Criteria Provided Conflicting Classifications		rs_941352340	4 SubmittersRCV002259171 RCV003093821 RCV004533966
NM_198253.3(TERT):c.2131-2A>G	SNV Germline	Chr5:1278798	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003101364 RCV002331859
NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)	SNV Germline	Chr5:1253754	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003097927 RCV004558931
NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)	SNV Germline	Chr5:1253799	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003775590 RCV004558970
NM_198253.3(TERT):c.1409G>A (p.Arg470His)	SNV Germline	Chr5:1293477	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis TERT-related disorder Dyskeratosis congenita	Criteria Provided Conflicting Classifications			3 SubmittersRCV003108072 RCV004534080 RCV004559479
NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)	SNV Germline	Chr5:1272221	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003101747 RCV004559562
NM_198253.3(TERT):c.2568G>T (p.Gly856=)	SNV Germline	Chr5:1268534	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003101979 RCV004559583
NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)	SNV Germline	Chr5:1279308	Conflicting classifications of pathogenicity	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003080428 RCV004560040
NM_198253.3(TERT):c.3032+1G>C	SNV Germline	Chr5:1258597	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002622217
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)	SNV Germline	Chr5:1294381	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002823989
NM_198253.3(TERT):c.2382+1G>T	SNV Germline	Chr5:1272184	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002834223
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr5:1272244	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002918325
NM_198253.3(TERT):c.2130+1G>C	SNV Germline	Chr5:1279290	Likely pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002929149
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)	SNV Germline	Chr5:1294129	Pathogenic	Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis	Criteria Provided Single Submitter			1 SubmittersRCV002999504
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)	SNV Germline	Chr5:1293936	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003785418
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)	SNV Germline	Chr5:1293640	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003782297
NM_198253.3(TERT):c.1573+2T>A	SNV Germline	Chr5:1293311	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003780416
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)	SNV Germline	Chr5:1280277	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003805396
NM_198253.3(TERT):c.329G>T (p.Gly110Val)	SNV Germline	Chr5:1294557	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003798846
NM_198253.3(TERT):c.2970+1G>A	SNV Germline	Chr5:1260473	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003803039
NM_198253.3(TERT):c.2130+2T>G	SNV Germline	Chr5:1279289	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003803273
NM_198253.3(TERT):c.1574-1G>C	SNV Germline	Chr5:1282625	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003801431
NM_198253.3(TERT):c.2286+1G>T	SNV Germline	Chr5:1278640	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003792572
NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)	SNV Germline	Chr5:1254451	Conflicting classifications of pathogenicity	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita	Criteria Provided Conflicting Classifications			2 SubmittersRCV003795088 RCV004559010
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)	SNV Germline	Chr5:1280303	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003808505
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)	SNV Germline	Chr5:1272187	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003809225
NM_198253.3(TERT):c.2654+1G>C	SNV Germline	Chr5:1266463	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003810011
NM_198253.3(TERT):c.2130+1G>A	SNV Germline	Chr5:1279290	Likely pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003812700
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)	SNV Germline	Chr5:1264457	Pathogenic	Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2	Criteria Provided Single Submitter			1 SubmittersRCV003810562

NM_198253.3(TERT):c.604G>A (p.Ala202Thr)

SNV
Germline

Chr5:1294282

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
not specified
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA122653

rs_121918661

21 SubmittersRCV000032398 RCV000013566 RCV000604322 RCV000758251 RCV000489117 RCV002255997 RCV004541000 RCV002513013

NM_198253.3(TERT):c.1234C>T (p.His412Tyr)

SNV
Germline

Chr5:1293652

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Autosomal recessive dyskeratosis congenita 4
not specified
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita
Melanoma, cutaneous malignant, susceptibility to, 9
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Acute myeloid leukemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA122655

rs_34094720

14 SubmittersRCV000013567 RCV000032365 RCV000190902 RCV000218461 RCV000262966 RCV000425346 RCV002255259 RCV003224095 RCV002513014

NM_198253.3(TERT):c.2080G>A (p.Val694Met)

SNV
Germline

Chr5:1279341

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita
Pulmonary fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA122657

rs_121918662

7 SubmittersRCV000013568 RCV000032373 RCV002513015 RCV004532332 RCV004558246 RCV002509152 RCV003441715

NM_198253.3(TERT):c.2594G>A (p.Arg865His)

SNV
Germline

Chr5:1266524

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Interstitial lung disease 2
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA122665

rs_121918666

7 SubmittersRCV000013573 RCV000032385 RCV000412959 RCV002513016 RCV003460466 RCV002509153

NM_198253.3(TERT):c.219+1G>A

SNV
Germline

Chr5:1294770

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Interstitial lung disease 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

CA122668

rs_199422309

3 SubmittersRCV000013575 RCV000032380 RCV002513017

NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)

SNV
Germline

Chr5:1280216

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Interstitial lung disease 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Telomere syndrome
Pulmonary fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA128724

rs_199422294

9 SubmittersRCV000022783 RCV000032370 RCV000677344 RCV002513175 RCV003150932 RCV003325404 RCV002509167 RCV004558270

NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)

SNV
Germline

Chr5:1271156

Conflicting classifications of pathogenicity

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal recessive 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA128727

rs_199422301

5 SubmittersRCV000022784 RCV000032383 RCV001797047 RCV002051796 RCV002513176

NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)

SNV
Germline

Chr5:1264546

Conflicting classifications of pathogenicity

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA128729

rs_199422304

4 SubmittersRCV000022785 RCV000032388 RCV003764630 RCV004558271

NM_198253.3(TERT):c.2371G>A (p.Val791Ile)

SNV
Germline

Chr5:1272196

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA044696

rs_141425941

5 SubmittersRCV001549913 RCV002518376 RCV003992244 RCV003325196

NM_198253.3(TERT):c.2599G>A (p.Val867Met)

SNV
Germline

Chr5:1266519

Pathogenic/Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_201159197

2 SubmittersRCV002518411 RCV002327153 RCV002509334

NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)

SNV
Germline

Chr5:1278781

Pathogenic/Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129984

rs_387907249

5 SubmittersRCV000030629 RCV002513272 RCV003447479

NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)

SNV
Germline

Chr5:1264479

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA129988

rs_387907251

5 SubmittersRCV000030631 RCV001753435 RCV002513273 RCV004558275

NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)

SNV
Germline

Chr5:1293430

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA343424

rs_199422293

4 SubmittersRCV000032367 RCV002326716 RCV002514131 RCV004558276 RCV002509174

NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)

SNV
Germline

Chr5:1279311

Pathogenic/Likely pathogenic

Autosomal recessive dyskeratosis congenita 4
Dyskeratosis congenita, autosomal dominant 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA128731

rs_199422297

8 SubmittersRCV000022786 RCV000032375 RCV000520116 RCV003460537 RCV002509175 RCV003103717 RCV004558278

NM_198253.3(TERT):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr5:1278780

Pathogenic/Likely pathogenic

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA343437

rs_199422298

6 SubmittersRCV000032376 RCV002514132 RCV001576802 RCV004558279

NM_198253.3(TERT):c.2177C>T (p.Thr726Met)

SNV
Germline

Chr5:1278750

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 1
Interstitial lung disease 2
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA343442

rs_149566858

8 SubmittersRCV000032378 RCV000987499 RCV001818203 RCV002514133 RCV003137552 RCV003466884 RCV004532476

NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)

SNV
Germline

Chr5:1254479

Conflicting classifications of pathogenicity

Leukemia, acute myeloid, susceptibility to
Aplastic anemia
not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Breast carcinoma
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA129990

rs_35719940

18 SubmittersRCV000030632 RCV000032393 RCV000151992 RCV000395635 RCV000305704 RCV001262530 RCV001573195 RCV002513302 RCV004558282

NM_198253.3(TERT):c.430G>A (p.Val144Met)

SNV
Germline

Chr5:1294456

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis

Criteria Provided
Conflicting Classifications

CA343461

rs_199422291

5 SubmittersRCV000032397 RCV000256024 RCV002513303 RCV002509178

NM_198253.3(TERT):c.3105C>T (p.Val1035=)

SNV
Germline

Chr5:1255339

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA178124

rs_181612536

13 SubmittersRCV000151993 RCV000313027 RCV000366513 RCV000399240 RCV001560519 RCV002256086 RCV002514931

NM_198253.3(TERT):c.1990G>C (p.Val664Leu)

SNV
Germline

Chr5:1279431

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Myelodysplasia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA208776

rs_797046042

5 SubmittersRCV000194545 RCV000515155 RCV001172445 RCV003105822

NM_198253.3(TERT):c.834C>A (p.Pro278=)

SNV
Germline

Chr5:1294052

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184905

rs_375423906

4 SubmittersRCV000218700 RCV001152947 RCV001155583 RCV001152948 RCV002517511 RCV004558465

NM_198253.3(TERT):c.3333G>A (p.Thr1111=)

SNV
Germline

Chr5:1253794

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184210

rs_200102606

5 SubmittersRCV000501447 RCV001158196 RCV001158197 RCV001158198 RCV001668401 RCV002518383 RCV004558598

NM_198253.3(TERT):c.2991G>A (p.Val997=)

SNV
Germline

Chr5:1258639

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184323

rs_376266401

6 SubmittersRCV001154848 RCV001154849 RCV001156515 RCV001820782 RCV002255342 RCV003103748 RCV003316312

NM_198253.3(TERT):c.2971-10G>T

SNV
Germline

Chr5:1258669

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA10582350

rs_878855303

4 SubmittersRCV001820781 RCV002519813 RCV003237799 RCV004541460

NM_198253.3(TERT):c.2769G>A (p.Pro923=)

SNV
Germline

Chr5:1264478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184401

rs_200174990

6 SubmittersRCV000499661 RCV000732368 RCV002256178 RCV002518377 RCV003316311

NM_198253.3(TERT):c.2255A>G (p.His752Arg)

SNV
Germline

Chr5:1278672

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184618

rs_375699185

4 SubmittersRCV000502003 RCV002255341 RCV002519811

NM_198253.3(TERT):c.2127C>G (p.Val709=)

SNV
Germline

Chr5:1279294

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184667

rs_765264494

5 SubmittersRCV000503916 RCV001154529 RCV001151517 RCV001151518 RCV003437032 RCV002518373 RCV004558594

NM_198253.3(TERT):c.2106G>A (p.Pro702=)

SNV
Germline

Chr5:1279315

Conflicting classifications of pathogenicity

not specified
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184671

rs_151055240

13 SubmittersRCV000250893 RCV000273101 RCV000302865 RCV000357715 RCV001529280 RCV002518372 RCV004558593

NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)

SNV
Germline

Chr5:1279323

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

CA10582353

rs_878855300

1 SubmittersRCV002518371

NM_198253.3(TERT):c.2001C>T (p.Tyr667=)

SNV
Germline

Chr5:1279420

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184691

rs_758494245

6 SubmittersRCV000987500 RCV001155364 RCV001155365 RCV001155363 RCV002255340 RCV002518370 RCV004532972

NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)

SNV
Germline

Chr5:1280172

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184723

rs_147521473

5 SubmittersRCV001775705 RCV001820780 RCV002256176 RCV002518369 RCV003469172

NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)

SNV
Germline

Chr5:1293550

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184855

rs_567650961

7 SubmittersRCV001356732 RCV002255339 RCV003151000 RCV002518367 RCV004532971

NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)

SNV
Germline

Chr5:1293555

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10582362

rs_878855299

4 SubmittersRCV001292603 RCV003325475 RCV002518366 RCV004558590

NM_198253.3(TERT):c.-57A>C

SNV
Germline/somatic

Chr5:1295046

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 9
Condition: not provided
Malignant tumor of urinary bladder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
not specified

Criteria Provided
Conflicting Classifications

CA10582367

rs_878855297

8 SubmittersRCV000034312 RCV001820777 RCV003332157 RCV002519807 RCV003475834 RCV004558587

NM_198253.3(TERT):c.1849C>T (p.Leu617=)

SNV
Germline

Chr5:1280259

Conflicting classifications of pathogenicity

not specified
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184742

rs_140951453

8 SubmittersRCV000244189 RCV000336462 RCV000287182 RCV000372475 RCV001580477 RCV002518668 RCV004558609 RCV003316456

NM_198253.3(TERT):c.1769+16G>A

SNV
Germline

Chr5:1282413

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184775

rs_202108457

3 SubmittersRCV000248852 RCV003105841 RCV004558608

NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)

SNV
Germline

Chr5:1271132

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA10588390

rs_746621306

3 SubmittersRCV000256149 RCV002256186 RCV002518756

NM_198253.3(TERT):c.1700C>T (p.Thr567Met)

SNV
Germline

Chr5:1282498

Likely pathogenic

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA10588391

rs_886039438

3 SubmittersRCV000255577 RCV002518755 RCV004558612

NM_198253.3(TERT):c.887A>C (p.His296Pro)

SNV
Germline

Chr5:1293999

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
7 conditions
Hepatocellular carcinoma
not specified
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184895

rs_778187343

6 SubmittersRCV000283392 RCV000322037 RCV000378796 RCV000765804 RCV000503276 RCV001820800 RCV002305476 RCV002518795

NM_198253.3(TERT):c.150G>A (p.Leu50=)

SNV
Germline

Chr5:1294840

Conflicting classifications of pathogenicity

Condition: not provided
7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA10606413

rs_886044153

5 SubmittersRCV000385403 RCV000764569 RCV002518081 RCV004543126 RCV004558615

NM_198253.3(TERT):c.2781A>G (p.Leu927=)

SNV
Germline

Chr5:1264466

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184396

rs_370292237

3 SubmittersRCV000285766 RCV000343040 RCV000376627 RCV002520298 RCV004558620

NM_198253.3(TERT):c.2391C>G (p.Ser797=)

SNV
Germline

Chr5:1271196

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184524

rs_377216965

7 SubmittersRCV000291722 RCV000328047 RCV000381346 RCV001584066 RCV002255373 RCV001821074 RCV002520301

NM_198253.3(TERT):c.219+7C>T

SNV
Germline

Chr5:1294764

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
not specified
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3185020

rs_573817924

8 SubmittersRCV000266345 RCV000324023 RCV000357781 RCV000613962 RCV001528455 RCV002520305 RCV004544655 RCV004559045

NM_198253.3(TERT):c.2654+10G>A

SNV
Germline

Chr5:1266454

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184437

rs_375473823

3 SubmittersRCV000274620 RCV000315371 RCV000367753 RCV002520299 RCV004544653

NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)

SNV
Germline

Chr5:1255294

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
not specified
Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184275

rs_373400596

6 SubmittersRCV000309581 RCV000344253 RCV000398654 RCV001815383 RCV002255372 RCV002509370 RCV002523498

NM_198253.3(TERT):c.2886C>T (p.Arg962=)

SNV
Germline

Chr5:1260558

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184349

rs_542440625

3 SubmittersRCV000283455 RCV000319818 RCV000374647 RCV002523499 RCV004558619

NM_198253.3(TERT):c.663G>T (p.Ala221=)

SNV
Germline

Chr5:1294223

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184933

rs_35837567

3 SubmittersRCV000312452 RCV000355603 RCV000403911 RCV004558621 RCV002520303

NM_198253.3(TERT):c.572G>C (p.Ser191Thr)

SNV
Germline

Chr5:1294314

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
not specified
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
TERT-related disorder
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184953

rs_11952056

8 SubmittersRCV000296917 RCV000354116 RCV000404356 RCV001821075 RCV002257653 RCV002520304 RCV003137968 RCV004530415 RCV003316499

NM_198253.3(TERT):c.2141C>T (p.Thr714Met)

SNV
Germline

Chr5:1278786

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184642

rs_772441504

4 SubmittersRCV002525587 RCV003150818 RCV003150819 RCV004559084 RCV003233642

NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)

SNV
Germline

Chr5:1279410

Conflicting classifications of pathogenicity

Condition: not provided
Hoyeraal-Hreidarsson syndrome
Autosomal recessive dyskeratosis congenita 4
Autosomal recessive dyskeratosis congenita 4
Pulmonary fibrosis
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Telomere syndrome
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16611699

rs_1060503011

7 SubmittersRCV001508166 RCV001753903 RCV002264699 RCV002509394 RCV002523341 RCV003325407 RCV004559086

NM_198253.3(TERT):c.1931C>T (p.Thr644Met)

SNV
Germline

Chr5:1280177

Conflicting classifications of pathogenicity

Chronic obstructive pulmonary disease
Decreased circulating antibody level
Chronic diarrhea
Immunodeficiency
Condition: not provided
7 conditions
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184726

rs_201927653

6 SubmittersRCV002244939 RCV002307507 RCV002506127 RCV002526430 RCV004539953 RCV003463952

NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)

SNV
Germline

Chr5:1271122

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184512

rs_757820442

2 SubmittersRCV002523340 RCV004568061

NM_198253.3(TERT):c.2130+10G>A

SNV
Germline

Chr5:1279281

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
Dyskeratosis congenita
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184663

rs_373879259

6 SubmittersRCV000502349 RCV001151514 RCV001151515 RCV001151516 RCV001536535 RCV004559102 RCV004541500 RCV002526490

NM_198253.3(TERT):c.1974G>A (p.Val658=)

SNV
Germline

Chr5:1279447

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
not specified
Dyskeratosis congenita
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184695

rs_778496417

7 SubmittersRCV001157052 RCV001157053 RCV001157054 RCV001821371 RCV002257755 RCV003431033 RCV002525684 RCV004541497

NM_198253.3(TERT):c.673G>C (p.Gly225Arg)

SNV
Germline

Chr5:1294213

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA16611921

rs_1060502999

2 SubmittersRCV003103781 RCV004559076

NM_198253.3(TERT):c.2329G>A (p.Val777Met)

SNV
Germline

Chr5:1272238

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA359076368

rs_1554040129

3 SubmittersRCV000500578 RCV003766854 RCV004535624

NM_198253.3(TERT):c.2301A>G (p.Thr767=)

SNV
Germline

Chr5:1272266

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA112944751

rs_374592280

5 SubmittersRCV000500257 RCV002524308 RCV003437237 RCV004559133 RCV004535623

NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)

SNV
Germline

Chr5:1279410

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359080693

rs_1060503011

2 SubmittersRCV000502929 RCV002524314

NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)

SNV
Germline

Chr5:1293424

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184839

rs_746216837

2 SubmittersRCV000502511 RCV002524311

NM_198253.3(TERT):c.943C>A (p.Arg315Ser)

SNV
Germline

Chr5:1293943

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056111

rs_1554042911

3 SubmittersRCV000503974 RCV002524312 RCV004559136

NM_198253.3(TERT):c.264G>C (p.Leu88=)

SNV
Germline

Chr5:1294622

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184998

rs_768398792

3 SubmittersRCV000502707 RCV002527298 RCV004559135

NM_198253.3(TERT):c.359G>C (p.Arg120Pro)

SNV
Germline

Chr5:1294527

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359058195

rs_1554043083

3 SubmittersRCV000507795 RCV003766883 RCV004559141

NM_198253.3(TERT):c.2947C>T (p.His983Tyr)

SNV
Germline

Chr5:1260497

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA359069737

rs_1554038803

4 SubmittersRCV000509390 RCV002231191 RCV002527380

NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)

SNV
Germline

Chr5:1272247

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_770066110

2 SubmittersRCV000677346 RCV002525003

NM_198253.3(TERT):c.2287-5G>A

SNV
Germline

Chr5:1272285

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
7 conditions
Condition: not provided
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_561426406

7 SubmittersRCV000677347 RCV000765795 RCV001755759 RCV001821447 RCV002525004 RCV003476211 RCV004535664

NM_198253.3(TERT):c.2580C>T (p.Asp860=)

SNV
Germline

Chr5:1268522

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184461

rs_751752830

3 SubmittersRCV001153601 RCV001153600 RCV001153599 RCV002530145 RCV004559199

NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184560

rs_755822641

2 SubmittersRCV002466532 RCV002530136

NM_198253.3(TERT):c.1937G>A (p.Arg646His)

SNV
Germline

Chr5:1280171

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359081026

rs_779338296

2 SubmittersRCV002530114 RCV004559182

NM_198253.3(TERT):c.2286C>T (p.His762=)

SNV
Germline

Chr5:1278641

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184610

rs_768062052

2 SubmittersRCV002530135 RCV004543198

NM_198253.3(TERT):c.2185A>G (p.Ile729Val)

SNV
Germline

Chr5:1278742

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184631

rs_753929279

4 SubmittersRCV002530130 RCV003228951 RCV004538046 RCV004559189

NM_198253.3(TERT):c.1939A>C (p.Arg647=)

SNV
Germline

Chr5:1280169

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184721

rs_144821759

3 SubmittersRCV001157056 RCV001253988 RCV001157055 RCV002530115 RCV004559183

NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)

SNV
Germline

Chr5:1280279

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184746

rs_776763536

3 SubmittersRCV003431098 RCV002530109 RCV004559181

NM_198253.3(TERT):c.779G>A (p.Gly260Asp)

SNV
Germline

Chr5:1294107

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA3184914

rs_148798048

4 SubmittersRCV002255455 RCV002260647 RCV002530175 RCV003333079

NM_198253.3(TERT):c.193C>G (p.Pro65Ala)

SNV
Germline

Chr5:1294797

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3185021

rs_544215765

6 SubmittersRCV001254604 RCV002256385 RCV002530117 RCV003236816

NM_198253.3(TERT):c.2885G>A (p.Arg962His)

SNV
Germline

Chr5:1260559

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184350

rs_759490631

3 SubmittersRCV003230269 RCV002530154 RCV004559205

NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)

SNV
Germline

Chr5:1264581

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA112938010

rs_532158398

2 SubmittersRCV002530148 RCV004559201

NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr5:1279464

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184698

rs_372272356

2 SubmittersRCV002530120 RCV003470764

NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)

SNV
Germline

Chr5:1253825

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184216

rs_764602705

4 SubmittersRCV002256386 RCV002307542 RCV002530163

NM_198253.3(TERT):c.2652C>T (p.Leu884=)

SNV
Germline

Chr5:1266466

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184439

rs_374309472

3 SubmittersRCV001770465 RCV002530147 RCV004559200

NM_198253.3(TERT):c.1269C>T (p.Ala423=)

SNV
Germline

Chr5:1293617

Conflicting classifications of pathogenicity

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184862

rs_190411812

5 SubmittersRCV001155486 RCV001155485 RCV001155487 RCV001821573 RCV002530096 RCV003992323 RCV004559172

NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

SNV
Germline

Chr5:1294048

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Condition: not provided
not specified
Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA3184904

rs_199701877

8 SubmittersRCV000987502 RCV001576510 RCV001821580 RCV002255456 RCV002530177 RCV003316717

NM_198253.3(TERT):c.645C>T (p.Gly215=)

SNV
Germline

Chr5:1294241

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184937

rs_768426236

7 SubmittersRCV001157267 RCV001157266 RCV001157268 RCV001529708 RCV001821579 RCV002530173 RCV004559217

NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)

SNV
Germline

Chr5:1260508

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184345

rs_765566930

4 SubmittersRCV000604673 RCV000855405 RCV002529360

NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)

SNV
Germline

Chr5:1255355

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184291

rs_377419542

3 SubmittersRCV002533393 RCV004559292 RCV004533396

NM_198253.3(TERT):c.2523C>G (p.Leu841=)

SNV
Germline

Chr5:1268579

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359074714

rs_1554039733

3 SubmittersRCV001156212 RCV001156210 RCV001156211 RCV002533405 RCV004559304

NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)

SNV
Germline

Chr5:1279467

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
7 conditions
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359080888

rs_1228165704

5 SubmittersRCV002533379 RCV003472038 RCV002485456 RCV003153788 RCV004559285

NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)

SNV
Germline

Chr5:1260560

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184351

rs_144697790

3 SubmittersRCV002533382 RCV003228970 RCV004568447

NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)

SNV
Germline

Chr5:1278699

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

CA3184621

rs_768168259

3 SubmittersRCV001816611 RCV002255492 RCV002533373

NM_198253.3(TERT):c.2689G>A (p.Val897Met)

SNV
Germline

Chr5:1264558

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184415

rs_559028617

2 SubmittersRCV002533383 RCV004533394

NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)

SNV
Germline

Chr5:1268529

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

CA3184463

rs_144779807

3 SubmittersRCV002533386 RCV004544885 RCV004568449

NM_198253.3(TERT):c.3117G>A (p.Thr1039=)

SNV
Germline

Chr5:1255327

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184281

rs_773595628

3 SubmittersRCV001816610 RCV002533372 RCV004559282

NM_198253.3(TERT):c.1393G>C (p.Val465Leu)

SNV
Germline

Chr5:1293493

Conflicting classifications of pathogenicity

7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

CA3184848

rs_758110675

4 SubmittersRCV000765803 RCV002533376 RCV003236829 RCV004544884

NM_198253.3(TERT):c.892T>A (p.Ser298Thr)

SNV
Germline

Chr5:1293994

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359056279

rs_1334806555

2 SubmittersRCV002533374 RCV004559283

NM_198253.3(TERT):c.863C>T (p.Ala288Val)

SNV
Germline

Chr5:1294023

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Condition: not provided
7 conditions
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA3184898

rs_774657340

7 SubmittersRCV001293960 RCV002307574 RCV002477438 RCV002533384 RCV004533395 RCV004559287

NM_198253.3(TERT):c.751G>A (p.Val251Ile)

SNV
Germline

Chr5:1294135

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184920

rs_776569822

2 SubmittersRCV003103822 RCV003328616

NM_198253.3(TERT):c.189G>A (p.Arg63=)

SNV
Germline

Chr5:1294801

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA443005624

rs_1554043134

3 SubmittersRCV001153059 RCV001153060 RCV001153061 RCV002530518 RCV004559306

NM_198253.3(TERT):c.1526C>T (p.Thr509Met)

SNV
Germline

Chr5:1293360

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

CA359085170

rs_1554042799

2 SubmittersRCV002533362 RCV004559276

NM_198253.3(TERT):c.569C>T (p.Ala190Val)

SNV
Germline

Chr5:1294317

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3184954

rs_781435225

4 SubmittersRCV001334733 RCV002533389 RCV003325507

NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr5:1280265

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_112614087

3 SubmittersRCV000659010 RCV001816660 RCV002534308

NM_198253.3(TERT):c.1450G>C (p.Glu484Gln)

SNV
Germline

Chr5:1293436

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1561213355

2 SubmittersRCV002533479 RCV004559621

NM_198253.3(TERT):c.702G>C (p.Leu234Phe)

SNV
Germline

Chr5:1294184

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_754359147

3 SubmittersRCV001775147 RCV002532334

NM_198253.3(TERT):c.553C>T (p.Arg185Trp)

SNV
Germline

Chr5:1294333

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_770436206

3 SubmittersRCV002544769 RCV003388593 RCV004559353

NM_198253.3(TERT):c.180G>A (p.Trp60Ter)

SNV
Germline

Chr5:1294810

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1554043139

1 SubmittersRCV002544806

NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)

SNV
Germline

Chr5:1266527

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Telomere syndrome

Criteria Provided
Conflicting Classifications

rs_1561194110

3 SubmittersRCV001816730 RCV002533689 RCV003325408

NM_198253.3(TERT):c.2432G>A (p.Arg811His)

SNV
Germline

Chr5:1271155

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_552708120

2 SubmittersRCV002533539 RCV003222108

NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)

SNV
Germline

Chr5:1293861

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_773366454

2 SubmittersRCV002547117 RCV004559356

NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)

SNV
Germline

Chr5:1255328

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_763381198

2 SubmittersRCV002256472 RCV002531489

NM_198253.3(TERT):c.2263G>A (p.Val755Ile)

SNV
Germline

Chr5:1278664

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_576633619

4 SubmittersRCV001151511 RCV001151512 RCV001151513 RCV001816702 RCV002547120

NM_198253.3(TERT):c.554G>T (p.Arg185Leu)

SNV
Germline

Chr5:1294332

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_749187042

2 SubmittersRCV002534379 RCV004559625

NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)

SNV
Germline

Chr5:1253781

Conflicting classifications of pathogenicity

TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1196160200

3 SubmittersRCV004540104 RCV002534659 RCV004559670

NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)

SNV
Germline

Chr5:1253804

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376255453

4 SubmittersRCV001152719 RCV001152717 RCV001152718 RCV002534874 RCV003233860

NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)

SNV
Germline

Chr5:1253817

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1579541768

2 SubmittersRCV002534746 RCV004559675

NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)

SNV
Germline

Chr5:1254476

Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_938938578

4 SubmittersRCV002508262 RCV002534853 RCV002509553 RCV004569706

NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)

SNV
Germline

Chr5:1271138

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_778051907

3 SubmittersRCV002534756 RCV004559676 RCV004569603

NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)

SNV
Germline

Chr5:1278679

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1579574831

2 SubmittersRCV002535502 RCV004559700

NM_198253.3(TERT):c.2221G>T (p.Val741Leu)

SNV
Germline

Chr5:1278706

Conflicting classifications of pathogenicity

not specified
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_150819225

3 SubmittersRCV001816876 RCV002537289 RCV004569650

NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)

SNV
Germline

Chr5:1279313

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_564647937

3 SubmittersRCV001250511 RCV002537414 RCV004559695

NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)

SNV
Germline

Chr5:1279316

Likely pathogenic

Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_754809046

2 SubmittersRCV002509550 RCV002538055

NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)

SNV
Germline

Chr5:1279368

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1579575848

1 SubmittersRCV002535497

NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)

SNV
Germline

Chr5:1280244

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1579577192

2 SubmittersRCV002534884 RCV003229867

NM_198253.3(TERT):c.1692G>A (p.Thr564=)

SNV
Germline

Chr5:1282506

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_377217777

3 SubmittersRCV002538048 RCV003432774 RCV004528305

NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)

SNV
Germline

Chr5:1293334

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_551522837

3 SubmittersRCV002256553 RCV003103847

NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr5:1293436

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1561213355

1 SubmittersRCV002538152

NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)

SNV
Germline

Chr5:1293563

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1213914911

2 SubmittersRCV004559663 RCV002534602

NM_198253.3(TERT):c.895G>A (p.Val299Met)

SNV
Germline

Chr5:1293991

Conflicting classifications of pathogenicity

7 conditions
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_756624928

2 SubmittersRCV002477800 RCV002536948

NM_198253.3(TERT):c.737C>T (p.Pro246Leu)

SNV
Germline

Chr5:1294149

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_377315722

2 SubmittersRCV002535442 RCV004559696

NM_198253.3(TERT):c.719G>A (p.Arg240His)

SNV
Germline

Chr5:1294167

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_751231538

2 SubmittersRCV002535469 RCV004559698

NM_198253.3(TERT):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr5:1294198

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_989271195

1 SubmittersRCV002538017

NM_198253.3(TERT):c.567C>A (p.His189Gln)

SNV
Germline

Chr5:1294319

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_747935528

3 SubmittersRCV002538019 RCV003332255 RCV004559667

NM_198253.3(TERT):c.566A>G (p.His189Arg)

SNV
Germline

Chr5:1294320

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_769638625

2 SubmittersRCV002537390 RCV004559691

NM_198253.3(TERT):c.1590G>C (p.Pro530=)

SNV
Germline

Chr5:1282608

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1396912668

2 SubmittersRCV000826056 RCV003768563

NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)

SNV
Germline

Chr5:1254396

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita
TERT-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759883263

6 SubmittersRCV001816988 RCV002539055 RCV002256570 RCV004538288 RCV004569802

NM_198253.3(TERT):c.2469-9C>T

SNV
Germline

Chr5:1268642

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_764029536

2 SubmittersRCV002258012 RCV002538978

NM_198253.3(TERT):c.2187C>T (p.Ile729=)

SNV
Germline

Chr5:1278740

Conflicting classifications of pathogenicity

not specified
TERT-related disorder
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_200819224

4 SubmittersRCV001817036 RCV004530847 RCV002539221 RCV004559753

NM_198253.3(TERT):c.3296-5C>T

SNV
Germline

Chr5:1253836

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_371015305

2 SubmittersRCV001817041 RCV002540025

NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)

SNV
Germline

Chr5:1254412

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_765787352

2 SubmittersRCV002554514 RCV004559893

NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)

SNV
Germline

Chr5:1260592

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755707625

2 SubmittersRCV002552581 RCV004559859

NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)

SNV
Germline

Chr5:1260593

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_370445231

4 SubmittersRCV002253765 RCV002551377 RCV004536066 RCV004559843

NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)

SNV
Germline

Chr5:1264543

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1748461171

1 SubmittersRCV002554599

NM_198253.3(TERT):c.2145C>T (p.Gly715=)

SNV
Germline

Chr5:1278782

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 9
Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_769467251

4 SubmittersRCV002290572 RCV002258103 RCV002552631

NM_198253.3(TERT):c.2015G>A (p.Arg672His)

SNV
Germline

Chr5:1279406

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1353891039

2 SubmittersRCV002553072 RCV003473622

NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)

SNV
Germline

Chr5:1282455

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1750086002

1 SubmittersRCV003103904

NM_198253.3(TERT):c.1580G>T (p.Gly527Val)

SNV
Germline

Chr5:1282618

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1006357203

2 SubmittersRCV002555892 RCV004559900

NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)

SNV
Germline

Chr5:1293448

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_917650159

2 SubmittersRCV002553196 RCV004559863

NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)

SNV
Germline

Chr5:1293547

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1304418053

2 SubmittersRCV002552511 RCV003467728

NM_198253.3(TERT):c.976G>A (p.Ala326Thr)

SNV
Germline

Chr5:1293910

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1030156757

3 SubmittersRCV002298867 RCV002555899 RCV004559901

NM_198253.3(TERT):c.820T>A (p.Ser274Thr)

SNV
Germline

Chr5:1294066

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751200603

2 SubmittersRCV002553844 RCV004559882

NM_198253.3(TERT):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr5:1294110

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_775613951

2 SubmittersRCV002553335 RCV004559875

NM_198253.3(TERT):c.2382+1G>C

SNV
Germline

Chr5:1272184

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1749089374

1 SubmittersRCV002552073

NM_198253.3(TERT):c.2639C>T (p.Ala880Val)

SNV
Germline

Chr5:1266479

Conflicting classifications of pathogenicity

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1748613384

3 SubmittersRCV001093474 RCV002554874

NM_198253.3(TERT):c.1401C>T (p.Ala467=)

SNV
Germline

Chr5:1293485

Conflicting classifications of pathogenicity

Aplastic anemia
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751126189

3 SubmittersRCV001154650 RCV001154652 RCV001154651 RCV002557323 RCV004559907

NM_198253.3(TERT):c.696G>T (p.Leu232=)

SNV
Germline

Chr5:1294190

Conflicting classifications of pathogenicity

Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1033402019

2 SubmittersRCV001155588 RCV001155589 RCV001155587 RCV002559498

NM_198253.3(TERT):c.483G>C (p.Leu161=)

SNV
Germline

Chr5:1294403

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Aplastic anemia
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_755155708

2 SubmittersRCV001153058 RCV001151814 RCV001151815 RCV002557276

NM_198253.3(TERT):c.230T>C (p.Leu77Pro)

SNV
Germline

Chr5:1294656

Conflicting classifications of pathogenicity

Abnormal pulmonary interstitial morphology
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1751271544

4 SubmittersRCV001172441 RCV001819874 RCV002509620 RCV003104009

NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)

SNV
Germline

Chr5:1264435

Likely pathogenic

Abnormal pulmonary interstitial morphology
Macrocytic anemia
Premature graying of hair
Short telomere length
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1422814635

5 SubmittersRCV001172444 RCV001819875 RCV002509621 RCV002559651 RCV004559909

NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

SNV
Germline

Chr5:1280217

Pathogenic/Likely pathogenic

Acute myeloid leukemia
Condition: not provided
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1194223999

5 SubmittersRCV001172450 RCV001819876 RCV002509622 RCV002558734 RCV004559910

NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)

SNV
Germline

Chr5:1266480

Pathogenic/Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1748613571

4 SubmittersRCV001819918 RCV003150823 RCV003150824 RCV003770256

NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)

SNV
Germline

Chr5:1254452

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1747568641

1 SubmittersRCV002561656

NM_198253.3(TERT):c.3001A>G (p.Ile1001Val)

SNV
Germline

Chr5:1258629

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1747930001

2 SubmittersRCV002561098 RCV004559922

NM_198253.3(TERT):c.1824G>T (p.Gln608His)

SNV
Germline

Chr5:1280284

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769540249

2 SubmittersRCV003103930 RCV003324819

NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)

SNV
Germline

Chr5:1293594

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1164823749

2 SubmittersRCV002561184 RCV004559926

NM_198253.3(TERT):c.2382+3C>A

SNV
Germline

Chr5:1272182

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_1579564797

2 SubmittersRCV002562338 RCV004545125

NM_198253.3(TERT):c.1574-1G>A

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_1750106866

1 SubmittersRCV002563064

NM_198253.3(TERT):c.2637C>G (p.His879Gln)

SNV
Germline

Chr5:1266481

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1307380469

2 SubmittersRCV002563161 RCV004557461

NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)

SNV
Germline

Chr5:1268526

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755183437

2 SubmittersRCV002563844 RCV004557474

NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)

SNV
Germline

Chr5:1293843

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1279397908

3 SubmittersRCV002256713 RCV002563174

NM_198253.3(TERT):c.802C>T (p.Arg268Cys)

SNV
Germline

Chr5:1294084

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_749827230

2 SubmittersRCV002563792 RCV004557465

NM_198253.3(TERT):c.686G>A (p.Ser229Asn)

SNV
Germline

Chr5:1294200

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1751217170

2 SubmittersRCV002563843 RCV004557472

NM_198253.3(TERT):c.162C>A (p.Cys54Ter)

SNV
Germline

Chr5:1294828

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_1751289309

1 SubmittersRCV002563175

NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)

SNV
Germline

Chr5:1293552

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_956854933

3 SubmittersRCV002564118 RCV004545150 RCV004557488

NM_198253.3(TERT):c.777G>A (p.Pro259=)

SNV
Germline

Chr5:1294109

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_746036694

3 SubmittersRCV002256723 RCV002568661

NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)

SNV
Germline

Chr5:1271168

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_1169312254

3 SubmittersRCV001267800 RCV003229617 RCV002568705

NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)

SNV
Germline

Chr5:1266525

Conflicting classifications of pathogenicity

Condition: not provided
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_372868296

3 SubmittersRCV001268086 RCV002541635 RCV004557498

NM_198253.3(TERT):c.2764A>T (p.Met922Leu)

SNV
Germline

Chr5:1264483

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_554229004

2 SubmittersRCV002539471 RCV004557519

NM_198253.3(TERT):c.2130+4G>T

SNV
Germline

Chr5:1279287

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_762332544

2 SubmittersRCV002543198 RCV004531089

NM_198253.3(TERT):c.965C>T (p.Pro322Leu)

SNV
Germline

Chr5:1293921

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1438162956

2 SubmittersRCV002543194 RCV004557524

NM_198253.3(TERT):c.2912G>A (p.Arg971His)

SNV
Germline

Chr5:1260532

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Pulmonary fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1748153358

3 SubmittersRCV002327692 RCV002543591 RCV002509657 RCV003447587

NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)

SNV
Germline

Chr5:1293403

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1561213308

2 SubmittersRCV002543728 RCV004557533

NM_198253.3(TERT):c.2286+1G>A

SNV
Germline

Chr5:1278640

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Multiple Submitters
No Conflicts

rs_1749780301

2 SubmittersRCV002675447 RCV004558797

NM_198253.3(TERT):c.1364A>T (p.His455Leu)

SNV
Germline

Chr5:1293522

Conflicting classifications of pathogenicity

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Conflicting Classifications

rs_781329984

2 SubmittersRCV002329318 RCV002546931

NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)

SNV
Germline

Chr5:1280256

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_995777798

2 SubmittersRCV002550144 RCV004557574

NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)

SNV
Germline

Chr5:1258604

Likely pathogenic

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_866575708

2 SubmittersRCV001376142 RCV002550227

NM_198253.3(TERT):c.2970+2T>G

SNV
Germline

Chr5:1260472

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_2126584187

1 SubmittersRCV002550253

NM_198253.3(TERT):c.1719C>G (p.Leu573=)

SNV
Germline

Chr5:1282479

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_978808687

3 SubmittersRCV001820094 RCV002552678 RCV004557592

NM_198253.3(TERT):c.1380G>A (p.Gln460=)

SNV
Germline

Chr5:1293506

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_754992012

3 SubmittersRCV001820097 RCV002552699 RCV004557595

NM_198253.3(TERT):c.696G>A (p.Leu232=)

SNV
Germline

Chr5:1294190

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1033402019

3 SubmittersRCV001820107 RCV002554015 RCV004557610

NM_198253.3(TERT):c.688C>A (p.Arg230=)

SNV
Germline

Chr5:1294198

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_989271195

3 SubmittersRCV001820127 RCV002555537 RCV004557643

NM_198253.3(TERT):c.456G>C (p.Leu152=)

SNV
Germline

Chr5:1294430

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_757121533

3 SubmittersRCV002256771 RCV002555511

NM_198253.3(TERT):c.3048G>A (p.Val1016=)

SNV
Germline

Chr5:1255396

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1454370746

3 SubmittersRCV001820156 RCV002560370 RCV004557678

NM_198253.3(TERT):c.2131-16G>A

SNV
Germline

Chr5:1278812

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146768484

2 SubmittersRCV002540730 RCV003237483

NM_198253.3(TERT):c.329G>C (p.Gly110Ala)

SNV
Germline

Chr5:1294557

Conflicting classifications of pathogenicity

Condition: not provided
Pulmonary fibrosis
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_1751262771

3 SubmittersRCV001806957 RCV002509702 RCV002542371

NM_198253.3(TERT):c.2844-12C>A

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

not specified
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_199765802

2 SubmittersRCV001817430 RCV002542532

NM_198253.3(TERT):c.3157+1G>T

SNV
Germline

Chr5:1255286

Likely pathogenic

Condition: not provided
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2126562296

2 SubmittersRCV001817788 RCV003772338

NM_198253.3(TERT):c.247C>T (p.Arg83Ter)

SNV
Germline

Chr5:1294639

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

rs_867642414

1 SubmittersRCV002552829

NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)

SNV
Germline

Chr5:1264501

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_1189683846

2 SubmittersRCV002548055 RCV004558679

NM_198253.3(TERT):c.767G>A (p.Trp256Ter)

SNV
Germline

Chr5:1294119

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_2126687935

1 SubmittersRCV002557880

NM_198253.3(TERT):c.77C>T (p.Thr26Met)

SNV
Germline

Chr5:1294913

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_760727529

2 SubmittersRCV002550983 RCV004558685

NM_198253.3(TERT):c.598G>T (p.Glu200Ter)

SNV
Germline

Chr5:1294288

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_1322987070

1 SubmittersRCV002555249

NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)

SNV
Germline

Chr5:1272214

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

rs_755822641

2 SubmittersRCV002545543 RCV004558803

NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)

SNV
Germline

Chr5:1255326

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Telomere syndrome

Criteria Provided
Single Submitter

rs_770144114

2 SubmittersRCV002579662 RCV003325413

NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr5:1282586

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

rs_2126649912

1 SubmittersRCV002562752

NM_198253.3(TERT):c.2844-12C>T

SNV
Germline

Chr5:1260612

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_199765802

2 SubmittersRCV002256898 RCV002551298

NM_198253.3(TERT):c.3033-13G>A

SNV
Germline

Chr5:1255424

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Conflicting Classifications

rs_746630679

2 SubmittersRCV002256916 RCV003015311

NM_198253.3(TERT):c.3018G>C (p.Leu1006=)

SNV
Germline

Chr5:1258612

Conflicting classifications of pathogenicity

Dyskeratosis congenita
Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder

Criteria Provided
Conflicting Classifications

rs_941352340

4 SubmittersRCV002259171 RCV003093821 RCV004533966

NM_198253.3(TERT):c.2131-2A>G

SNV
Germline

Chr5:1278798

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003101364 RCV002331859

NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)

SNV
Germline

Chr5:1253754

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003097927 RCV004558931

NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)

SNV
Germline

Chr5:1253799

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003775590 RCV004558970

NM_198253.3(TERT):c.1409G>A (p.Arg470His)

SNV
Germline

Chr5:1293477

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003108072 RCV004534080 RCV004559479

NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)

SNV
Germline

Chr5:1272221

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003101747 RCV004559562

NM_198253.3(TERT):c.2568G>T (p.Gly856=)

SNV
Germline

Chr5:1268534

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003101979 RCV004559583

NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr5:1279308

Conflicting classifications of pathogenicity

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003080428 RCV004560040

NM_198253.3(TERT):c.3032+1G>C

SNV
Germline

Chr5:1258597

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002622217

NM_198253.3(TERT):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr5:1294381

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002823989

NM_198253.3(TERT):c.2382+1G>T

SNV
Germline

Chr5:1272184

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002834223

NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr5:1272244

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002918325

NM_198253.3(TERT):c.2130+1G>C

SNV
Germline

Chr5:1279290

Likely pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002929149

NM_198253.3(TERT):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr5:1294129

Pathogenic

Dyskeratosis congenita, autosomal dominant 2
Idiopathic Pulmonary Fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV002999504

NM_198253.3(TERT):c.950G>A (p.Trp317Ter)

SNV
Germline

Chr5:1293936

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003785418

NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)

SNV
Germline

Chr5:1293640

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003782297

NM_198253.3(TERT):c.1573+2T>A

SNV
Germline

Chr5:1293311

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003780416

NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)

SNV
Germline

Chr5:1280277

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003805396

NM_198253.3(TERT):c.329G>T (p.Gly110Val)

SNV
Germline

Chr5:1294557

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003798846

NM_198253.3(TERT):c.2970+1G>A

SNV
Germline

Chr5:1260473

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003803039

NM_198253.3(TERT):c.2130+2T>G

SNV
Germline

Chr5:1279289

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003803273

NM_198253.3(TERT):c.1574-1G>C

SNV
Germline

Chr5:1282625

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003801431

NM_198253.3(TERT):c.2286+1G>T

SNV
Germline

Chr5:1278640

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003792572

NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)

SNV
Germline

Chr5:1254451

Conflicting classifications of pathogenicity

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003795088 RCV004559010

NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr5:1280303

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003808505

NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr5:1272187

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003809225

NM_198253.3(TERT):c.2654+1G>C

SNV
Germline

Chr5:1266463

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003810011

NM_198253.3(TERT):c.2130+1G>A

SNV
Germline

Chr5:1279290

Likely pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003812700

NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)

SNV
Germline

Chr5:1264457

Pathogenic

Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2

Criteria Provided
Single Submitter

1 SubmittersRCV003810562