"University of Washington Center for Mendelian Genomics, University of - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217517	NM_001283009.2(RTEL1):c.958+2dup	RTEL1-TNFRSF6B, RTEL1	Duplication (splice donor variant)	Interstitial lung disease 2	GPathogenic
Select item 217518	NM_001283009.2(RTEL1):c.1482-1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita +3 more	GPathogenic/Likely pathogenic
Select item 217519	NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)	RTEL1, RTEL1-TNFRSF6B (V516L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Interstitial lung disease 2	GPathogenic
Select item 217520	NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)	RTEL1, RTEL1-TNFRSF6B (S540A +2 more)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 217283	NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)	RTEL1, RTEL1-TNFRSF6B	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 217284	NM_001283009.2(RTEL1):c.2413+1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GPathogenic/Likely pathogenic
Select item 42020	NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	RTEL1, RTEL1-TNFRSF6B (R998* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GPathogenic
Select item 217285	NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	RTEL1, RTEL1-TNFRSF6B (R986Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 42018	NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	RTEL1, RTEL1-TNFRSF6B (R1264H)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +6 more	GPathogenic/Likely pathogenic