"Counsyl"[submitter] AND "RTEL1"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558419	NM_001283009.2(RTEL1):c.101_102+16dup	RTEL1, RTEL1-TNFRSF6B	Duplication (intron variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 558372	NM_001283009.2(RTEL1):c.102+3AG[3]	RTEL1, RTEL1-TNFRSF6B	Microsatellite (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 555411	NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met)	RTEL1-TNFRSF6B, RTEL1 (T49M)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 555610	NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met)	RTEL1-TNFRSF6B, RTEL1 (T56M)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 553879	NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup)	RTEL1, RTEL1-TNFRSF6B	Microsatellite (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 555387	NM_001283009.2(RTEL1):c.347A>G (p.His116Arg)	RTEL1, RTEL1-TNFRSF6B (H116R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 552441	NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del)	RTEL1-TNFRSF6B, RTEL1 (S130del)	Microsatellite (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 556488	NM_001283009.2(RTEL1):c.396-74A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GConflicting classifications of pathogenicity
Select item 556601	NM_001283009.2(RTEL1):c.396-48G>A	RTEL1, RTEL1-TNFRSF6B (W140*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita, autosomal recessive 5	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 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 555440	NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)	RTEL1, RTEL1-TNFRSF6B (Y199* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 554988	NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)	RTEL1, RTEL1-TNFRSF6B (Y210* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 551637	NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)	RTEL1, RTEL1-TNFRSF6B (R213W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GUncertain significance
Select item 558476	NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	RTEL1, RTEL1-TNFRSF6B (Q241* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 42022	NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)	RTEL1, RTEL1-TNFRSF6B (E275K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 556346	NM_032957.4(RTEL1):c.838_840delGAG	RTEL1, RTEL1-TNFRSF6B	Deletion	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 558110	NM_001283009.2(RTEL1):c.897del (p.Phe299fs)	RTEL1, RTEL1-TNFRSF6B (F323fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GPathogenic/Likely pathogenic
Select item 553724	NM_001283009.2(RTEL1):c.1037+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 557312	NM_001283009.2(RTEL1):c.1266+3A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 550004	NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn)	RTEL1, RTEL1-TNFRSF6B (K448N +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 550655	NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del)	RTEL1, RTEL1-TNFRSF6B (Y479del +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 190473	NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu)	RTEL1-TNFRSF6B, RTEL1 (P484L +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 540966	NM_001283009.2(RTEL1):c.1596-9C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 552420	NM_001283009.2(RTEL1):c.1596-1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 422356	NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)	RTEL1, RTEL1-TNFRSF6B (R550C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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)	not provided +3 more	GUncertain significance
Select item 553611	NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)	RTEL1, RTEL1-TNFRSF6B (P671L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 550933	NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)	RTEL1, RTEL1-TNFRSF6B (R432fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 558467	NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs)	RTEL1, RTEL1-TNFRSF6B (Q675fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 555383	NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg)	RTEL1-TNFRSF6B, RTEL1 (G679R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 555385	NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys)	RTEL1, RTEL1-TNFRSF6B (S688C +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 65415	NM_001283009.2(RTEL1):c.2141+5G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5	GConflicting classifications of pathogenicity
Select item 436588	NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn)	RTEL1, RTEL1-TNFRSF6B (D719N +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 556093	NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys)	RTEL1, RTEL1-TNFRSF6B (R729C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 552546	NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)	RTEL1, RTEL1-TNFRSF6B (R778* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 555575	NM_001283009.2(RTEL1):c.2265+2T>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 555184	NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del)	RTEL1, RTEL1-TNFRSF6B (G770del +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 552426	NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del)	RTEL1, RTEL1-TNFRSF6B (F784del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 556385	NM_001283009.2(RTEL1):c.2414-2A>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 555488	NM_001283009.2(RTEL1):c.2533del (p.Ala845fs)	RTEL1, RTEL1-TNFRSF6B (A845fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 555667	NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)	RTEL1, RTEL1-TNFRSF6B (S640fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 552812	NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del)	RTEL1, RTEL1-TNFRSF6B (E870del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 436590	NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)	RTEL1, RTEL1-TNFRSF6B (P871L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554068	NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)	RTEL1, RTEL1-TNFRSF6B (R896* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 555961	NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)	RTEL1-TNFRSF6B, RTEL1 (K877del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +2 more	GUncertain significance
Select item 555380	NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)	RTEL1, RTEL1-TNFRSF6B (R656fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 558683	NM_001283009.2(RTEL1):c.2652+5G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 558451	NM_001283009.2(RTEL1):c.2653-2A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 558015	NM_001283009.2(RTEL1):c.2851+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 555719	NM_001283009.2(RTEL1):c.2851+52T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 556425	NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs)	RTEL1, RTEL1-TNFRSF6B (Y977fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely 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 +3 more	GConflicting classifications of pathogenicity
Select item 551394	NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)	RTEL1, RTEL1-TNFRSF6B (K961* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 553584	NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)	RTEL1, RTEL1-TNFRSF6B (F964L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 42020	NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	RTEL1-TNFRSF6B, RTEL1 (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 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 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)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 553318	NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs)	RTEL1, RTEL1-TNFRSF6B (T1036fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 551868	NM_001283009.2(RTEL1):c.3110-2A>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 550440	NM_001283009.2(RTEL1):c.3110-2A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 552188	NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)	RTEL1, RTEL1-TNFRSF6B (Q1044* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 553952	NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del)	RTEL1, RTEL1-TNFRSF6B (G1046del +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 557947	NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)	RTEL1, RTEL1-TNFRSF6B (L1112fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 554371	NM_001283009.2(RTEL1):c.3344-2A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 556483	NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)	RTEL1, RTEL1-TNFRSF6B (Q1126* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 554246	NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del)	RTEL1, RTEL1-TNFRSF6B	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 212075	NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 557461	NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val)	RTEL1, RTEL1-TNFRSF6B (G1222V)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 65412	NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)	RTEL1-TNFRSF6B, RTEL1 (C1244R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 558115	NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu)	RTEL1, RTEL1-TNFRSF6B (Q1245E)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 556627	NM_001283009.2(RTEL1):c.3786C>T (p.Phe1262=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely benign
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)	Dyskeratosis congenita, autosomal recessive 5 +6 more	GPathogenic/Likely pathogenic
Select item 557520	NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 558677	NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val)	RTEL1, RTEL1-TNFRSF6B (M1278V)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 557790	NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr)	RTEL1, RTEL1-TNFRSF6B (H1283Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 552668	NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs)	RTEL1, RTEL1-TNFRSF6B +1 more (F57fs)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 556165	NC_000020.11:g.63696942C>T	RTEL1, RTEL1-TNFRSF6B +1 more (Q59*)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 551842	NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr)	RTEL1, RTEL1-TNFRSF6B +1 more (H122Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 550480	NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val)	RTEL1, RTEL1-TNFRSF6B +1 more (A248V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550342	NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys)	RTEL1, RTEL1-TNFRSF6B +1 more (R250C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 550354	NC_000020.11:g.63698429C>A	RTEL1, RTEL1-TNFRSF6B +1 more (L257M)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550121	NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys)	RTEL1, RTEL1-TNFRSF6B +1 more (R258C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550566	NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His)	RTEL1, RTEL1-TNFRSF6B +1 more (R258H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550580	NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met)	RTEL1, RTEL1-TNFRSF6B +1 more (T262M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550108	NC_000020.11:g.63698447G>A	RTEL1, RTEL1-TNFRSF6B +1 more (E263K)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550464	NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp)	RTEL1, RTEL1-TNFRSF6B +1 more (R275W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 550568	NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=)	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550441	NC_000020.11:g.63698501C>T	RTEL1, RTEL1-TNFRSF6B +1 more (R281C)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550727	NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg)	TNFRSF6B, RTEL1 +1 more (G287R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 551185	NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=)	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 550851	NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His)	RTEL1, RTEL1-TNFRSF6B +1 more (R293H)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 550446	NC_000020.11:g.63698566C>T	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550400	NC_000020.11:g.63698573C>T	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550403	NC_000020.11:g.63698638G>A	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550432	NC_000020.11:g.63698646G>A	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550590	NC_000020.11:g.63698647T>C	ARFRP1, RTEL1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance

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Germline classification

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Molecular consequence

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