"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RTEL1-TNFRSF6B - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45