"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RTEL1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436585	NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu)	RTEL1, RTEL1-TNFRSF6B (P82L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GUncertain significance
Select item 1163652	NM_001283009.2(RTEL1):c.359C>G (p.Thr120Arg)	RTEL1, RTEL1-TNFRSF6B (T120R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 794848	NM_001283009.2(RTEL1):c.396-27T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554560	NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)	RTEL1, RTEL1-TNFRSF6B (Q153fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 651744	NM_001283009.2(RTEL1):c.538+3A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1163653	NM_001283009.2(RTEL1):c.704G>A (p.Arg235His)	RTEL1, RTEL1-TNFRSF6B (R12H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380676	NM_001283009.2(RTEL1):c.766-356_832delinsCTGC	RTEL1, RTEL1-TNFRSF6B	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 573620	NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile)	RTEL1, RTEL1-TNFRSF6B (T287I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1163654	NM_001283009.2(RTEL1):c.901G>A (p.Ala301Thr)	RTEL1, RTEL1-TNFRSF6B (A301T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 217517	NM_001283009.2(RTEL1):c.958+2dup	RTEL1, RTEL1-TNFRSF6B	Duplication (splice donor variant)	not provided +1 more	GPathogenic
Select item 473899	NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)	RTEL1, RTEL1-TNFRSF6B (R324H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1163655	NM_001283009.2(RTEL1):c.1132G>A (p.Gly378Arg)	RTEL1, RTEL1-TNFRSF6B (G155R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2683551	NM_001283009.2(RTEL1):c.1250C>T (p.Ala417Val)	RTEL1, RTEL1-TNFRSF6B (A194V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 642379	NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)	RTEL1, RTEL1-TNFRSF6B (T211M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 1015776	NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser)	RTEL1, RTEL1-TNFRSF6B (G238S +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 2683552	NM_001283009.2(RTEL1):c.1540G>C (p.Gly514Arg)	RTEL1, RTEL1-TNFRSF6B (G291R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 473906	NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu)	RTEL1, RTEL1-TNFRSF6B (A528E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 436587	NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr)	RTEL1, RTEL1-TNFRSF6B (M652T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GUncertain significance
Select item 1917508	NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)	RTEL1, RTEL1-TNFRSF6B (Q680L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1693765	NM_001283009.2(RTEL1):c.2086G>A (p.Gly696Arg)	RTEL1, RTEL1-TNFRSF6B (G473R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1446669	NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu)	RTEL1, RTEL1-TNFRSF6B (R474L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 981516	NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys)	RTEL1, RTEL1-TNFRSF6B (Y482C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 666914	NM_001283009.2(RTEL1):c.2142-7C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 1163656	NM_001283009.2(RTEL1):c.2249G>A (p.Arg750His)	RTEL1-TNFRSF6B, RTEL1 (R527H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 646356	NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln)	RTEL1, RTEL1-TNFRSF6B (R778Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 839112	NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val)	RTEL1, RTEL1-TNFRSF6B (A758V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 664672	NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala)	RTEL1, RTEL1-TNFRSF6B (P536A +2 more)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 659476	NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His)	RTEL1, RTEL1-TNFRSF6B (R793H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GUncertain significance
Select item 967062	NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)	RTEL1, RTEL1-TNFRSF6B (P824S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 436591	NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)	RTEL1, RTEL1-TNFRSF6B (P884L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GUncertain significance
Select item 3380677	NM_001283009.2(RTEL1):c.2726A>G (p.Gln909Arg)	RTEL1, RTEL1-TNFRSF6B (Q686R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 661785	NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr)	RTEL1, RTEL1-TNFRSF6B (A930T +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 1387000	NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys)	RTEL1, RTEL1-TNFRSF6B (Y978C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1163750	NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg)	RTEL1, RTEL1-TNFRSF6B (P1004R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
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 +3 more	GPathogenic/Likely pathogenic
Select item 566087	NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln)	RTEL1-TNFRSF6B, RTEL1 (H1021Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 971998	NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu)	RTEL1, RTEL1-TNFRSF6B (P804L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1036069	NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr)	RTEL1, RTEL1-TNFRSF6B (H805Y +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 1692627	NM_001283009.2(RTEL1):c.3109+5C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GUncertain significance
Select item 971211	NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser)	RTEL1, RTEL1-TNFRSF6B (P1050S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 652372	NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met)	RTEL1, RTEL1-TNFRSF6B (V1060M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 3380917	NM_001283009.2(RTEL1):c.3420C>G (p.Tyr1140Ter)	RTEL1, RTEL1-TNFRSF6B (Y1140* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 642282	NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro)	RTEL1-TNFRSF6B, RTEL1 (S946P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1163751	NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile)	RTEL1, RTEL1-TNFRSF6B (T1174I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 1163752	NM_001283009.2(RTEL1):c.3823-13G>A	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 45