"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "RTE - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048767	NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer)	RTEL1, RTEL1-TNFRSF6B	Deletion (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GPathogenic
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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more	GUncertain significance
Select item 840820	NM_001283009.2(RTEL1):c.763G>A (p.Val255Met)	RTEL1, RTEL1-TNFRSF6B (V279M +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 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)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 816670	NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val)	RTEL1, RTEL1-TNFRSF6B (A130V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 557784	NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del)	RTEL1, RTEL1-TNFRSF6B (F560del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 983518	NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp)	RTEL1, RTEL1-TNFRSF6B (R477W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 973866	NM_001283009.2(RTEL1):c.2223del (p.Ile742fs)	RTEL1, RTEL1-TNFRSF6B (I519fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GPathogenic
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)	not provided +3 more	GUncertain significance
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)	not provided +5 more	GPathogenic
Select item 1704373	NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)	RTEL1, RTEL1-TNFRSF6B (G752D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 844452	NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His)	RTEL1-TNFRSF6B, RTEL1 (Y1002H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1368210	NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp)	RTEL1, RTEL1-TNFRSF6B (R979W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1704384	NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)	RTEL1, RTEL1-TNFRSF6B (H759Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 2503111	NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)	RTEL1, RTEL1-TNFRSF6B (G1048E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 581284	NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile)	RTEL1, RTEL1-TNFRSF6B (T1128I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 977091	NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg)	RTEL1, RTEL1-TNFRSF6B (P1146R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 1385929	NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser)	RTEL1, RTEL1-TNFRSF6B (A1187S +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 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 1331719	NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys)	RTEL1, RTEL1-TNFRSF6B (R1264C)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance
Select item 1704383	NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)	RTEL1, RTEL1-TNFRSF6B (M1292fs)	Deletion (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance

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Items: 22