"Revvity Omics, Revvity"[submitter] AND "RTEL1-TNFRSF6B"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 540935	NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp)	RTEL1, RTEL1-TNFRSF6B (R84W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GUncertain significance
Select item 449904	NM_001283009.2(RTEL1):c.396-26C>T	RTEL1, RTEL1-TNFRSF6B (R148*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2160490	NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)	RTEL1, RTEL1-TNFRSF6B (S179G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 940472	NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn)	RTEL1-TNFRSF6B, RTEL1 (D220N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GUncertain significance
Select item 573620	NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile)	RTEL1, RTEL1-TNFRSF6B (T287I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 651186	NM_001283009.2(RTEL1):c.901_919+72del	RTEL1-TNFRSF6B, RTEL1	Deletion (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1370422	NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys)	RTEL1, RTEL1-TNFRSF6B (R324C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 42019	NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	RTEL1, RTEL1-TNFRSF6B (M516I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GPathogenic/Likely pathogenic
Select item 2173112	NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)	RTEL1, RTEL1-TNFRSF6B (E906D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 473915	NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr)	RTEL1, RTEL1-TNFRSF6B (C958Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1325019	NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)	RTEL1, RTEL1-TNFRSF6B (E718* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 42021	NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	RTEL1, RTEL1-TNFRSF6B (R981W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 657337	NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	RTEL1-TNFRSF6B, RTEL1 (T996I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 65417	NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	RTEL1, RTEL1-TNFRSF6B (R1010* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GPathogenic/Likely pathogenic
Select item 967888	NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)	RTEL1-TNFRSF6B, RTEL1 (T777M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436595	NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr)	RTEL1, RTEL1-TNFRSF6B (F1110Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 658266	NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)	RTEL1, RTEL1-TNFRSF6B (P1165L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 965867	NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln)	RTEL1-TNFRSF6B, RTEL1 (R1170Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 573419	NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala)	RTEL1, RTEL1-TNFRSF6B (G1221A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
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)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 1401467	NM_003823.4(TNFRSF6B):c.772C>A (p.Arg258Ser)	RTEL1-TNFRSF6B, TNFRSF6B (R258S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2079271	NM_003823.4(TNFRSF6B):c.824G>C (p.Arg275Pro)	RTEL1-TNFRSF6B, TNFRSF6B (R275P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

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Items: 22