"GenomeConnect, ClinGen"[submitter] AND "RTEL1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403398	NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403399	NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403400	NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403401	NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 548700	NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)	RTEL1, RTEL1-TNFRSF6B (R763fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 403402	NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)	RTEL1, RTEL1-TNFRSF6B (Q1042H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403403	NM_001283009.2(RTEL1):c.3499+5G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 1170799	NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GBenign