ClinVar for MedGen (Select 1668986) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24433171.	NM_198253.3(TERT):c.289_290delinsG (p.Leu97fs) GRCh37: Chr5:1294711-1294712 GRCh38: Chr5:1294596-1294597	TERT	L97fs	Telomere syndrome	Pathogenic (Aug 1, 2022)	no assertion criteria provided
Select item 24433162.	NM_001283009.2(RTEL1):c.3628_3629delinsT (p.His1210fs) GRCh37: Chr20:62326809-62326810 GRCh38: Chr20:63695456-63695457	RTEL1, RTEL1-TNFRSF6B	H1210fs, H1234fs, H987fs	Telomere syndrome	Pathogenic (Aug 1, 2022)	no assertion criteria provided
Select item 24433153.	NM_198253.3(TERT):c.258G>C (p.Gln86His) GRCh37: Chr5:1294743 GRCh38: Chr5:1294628	LOC110806263, TERT	Q86H	Telomere syndrome	Pathogenic (Aug 1, 2022)	no assertion criteria provided
Select item 14857564.	NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) GRCh37: Chr5:1255441 GRCh38: Chr5:1255326	TERT	A977T, A1040T	Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis	Likely pathogenic (Sep 30, 2021)	criteria provided, single submitter
Select item 11850355.	NM_002582.4(PARN):c.39C>G (p.His13Gln) GRCh37: Chr16:14723512 GRCh38: Chr16:14629655	PARN	H13Q	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Uncertain significance (Jun 21, 2021)	criteria provided, single submitter
Select item 9835116.	NR_001566.1(TERC):n.95G>C GRCh37: Chr3:169482754 GRCh38: Chr3:169764966	LOC110806306, TERC		Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, Dyskeratosis congenita, autosomal dominant 1	Conflicting interpretations of pathogenicity (Jul 13, 2021)	criteria provided, conflicting interpretations
Select item 9815167.	NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys) GRCh37: Chr20:62321191 GRCh38: Chr20:63689838	RTEL1, RTEL1-TNFRSF6B	Y482C, Y705C, Y729C	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, Inborn genetic diseases	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9738668.	NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) GRCh37: Chr20:62321521 GRCh38: Chr20:63690168	RTEL1, RTEL1-TNFRSF6B	I519fs, I742fs, I766fs	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Pathogenic (Feb 4, 2020)	criteria provided, single submitter
Select item 5801199.	NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) GRCh37: Chr5:1266642 GRCh38: Chr5:1266527	TERT	L864P	Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis, not specified	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 41069310.	NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) GRCh37: Chr5:1279525 GRCh38: Chr5:1279410	TERT	R671W	Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis, not provided	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 21912011.	NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) GRCh37: Chr16:14678240 GRCh38: Chr16:14584383	PARN	R349W, R303W, R288W	Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 2989912.	NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) GRCh37: Chr5:1280331 GRCh38: Chr5:1280216	TERT	R631Q	Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2, Dyskeratosis congenita, Hereditary cancer-predisposing syndrome, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts