ClinVar for MedGen (Select 767570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377557	NM_001283009.2(RTEL1):c.260C>T (p.Ser87Leu)	RTEL1, RTEL1-TNFRSF6B (S87L)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 3377300	NM_001283009.2(RTEL1):c.395+2T>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3362835	NM_198253.3(TERT):c.2300C>G (p.Thr767Arg)	TERT (T767R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 3248306	NC_000020.10:g.(?_62324287)_(62324806_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248305	NC_000020.10:g.(?_62316041)_(62319096_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248304	NC_000020.10:g.(?_62290756)_(62297442_?)dup	RTEL1	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 3248303	NC_000020.10:g.(?_62303889)_(62312092_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 3248302	NC_000020.10:g.(?_62303889)_(62305466_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3248301	NC_000020.10:g.(?_62290756)_(62324646_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3248300	NC_000020.10:g.(?_62309478)_(62324656_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3240386	NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)	RTEL1, RTEL1-TNFRSF6B (W1217* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240385	NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)	RTEL1, RTEL1-TNFRSF6B (C207fs +1 more)	Duplication (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240384	NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)	RTEL1, RTEL1-TNFRSF6B (T138fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240383	NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)	RTEL1, RTEL1-TNFRSF6B (A622fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240382	NM_001283009.2(RTEL1):c.3406_3409dup (p.Gly1137fs)	RTEL1-TNFRSF6B, RTEL1 (G1137fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3240381	NM_001283009.2(RTEL1):c.302-1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 3237360	NM_001283009.2(RTEL1):c.396-43T>C	RTEL1, RTEL1-TNFRSF6B (L142S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 2954281	NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954279	NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954177	NM_001283009.2(RTEL1):c.1267-17G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954080	NM_001283009.2(RTEL1):c.1636+19C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2954042	NM_001283009.2(RTEL1):c.1482-11G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2953992	NM_001283009.2(RTEL1):c.1329C>T (p.Thr443=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953836	NM_001283009.2(RTEL1):c.700-8T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953743	NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)	RTEL1, RTEL1-TNFRSF6B (K1176fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 2953717	NM_001283009.2(RTEL1):c.102+16C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2953656	NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953460	NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953392	NM_001283009.2(RTEL1):c.2142-18G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953163	NM_001283009.2(RTEL1):c.3343+11C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953159	NM_001283009.2(RTEL1):c.2663T>G (p.Val888Gly)	RTEL1, RTEL1-TNFRSF6B (V665G +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 2953149	NM_001283009.2(RTEL1):c.3499+1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 2953148	NM_001283009.2(RTEL1):c.2557-15C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2953135	NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)	RTEL1, RTEL1-TNFRSF6B (S767fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 2952996	NM_001283009.2(RTEL1):c.2141+14G>C	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952831	NM_001283009.2(RTEL1):c.3109+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 2952825	NM_001283009.2(RTEL1):c.302-15_302-12del	RTEL1, RTEL1-TNFRSF6B	Microsatellite (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952731	NM_001283009.2(RTEL1):c.3500-9del	RTEL1-TNFRSF6B, RTEL1	Deletion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952632	NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952597	NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952351	NM_001283009.2(RTEL1):c.687G>A (p.Leu229=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952349	NM_001283009.2(RTEL1):c.2414-6C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952292	NM_001283009.2(RTEL1):c.2026-12C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952155	NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)	RTEL1, RTEL1-TNFRSF6B (S814I +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 2952088	NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2952072	NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951997	NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)	RTEL1, RTEL1-TNFRSF6B (C753W +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 2951872	NM_001283009.2(RTEL1):c.2487G>A (p.Gln829=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951833	NM_001283009.2(RTEL1):c.2851+7T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951744	NM_001283009.2(RTEL1):c.1135+7G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951740	NM_001283009.2(RTEL1):c.1267-14C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951727	NM_001283009.2(RTEL1):c.2993-15A>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951618	NM_001283009.2(RTEL1):c.2413+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely pathogenic
Select item 2951564	NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)	RTEL1, RTEL1-TNFRSF6B (Y421S +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 2951467	NM_001283009.2(RTEL1):c.3500-8G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951343	NM_001283009.2(RTEL1):c.3110-13A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2951208	NM_001283009.2(RTEL1):c.2414-18A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950875	NM_001283009.2(RTEL1):c.2414-10G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950553	NM_001283009.2(RTEL1):c.1595+14C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950524	NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)	RTEL1, RTEL1-TNFRSF6B (G1191R +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 2950493	NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)	RTEL1, RTEL1-TNFRSF6B (Q443K +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 2950491	NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)	RTEL1, RTEL1-TNFRSF6B (F700S +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 2950473	NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)	RTEL1, RTEL1-TNFRSF6B (S791C +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 2950430	NM_001283009.2(RTEL1):c.1800+12G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950402	NM_001283009.2(RTEL1):c.1038-16_1038-15insG	RTEL1, RTEL1-TNFRSF6B	Insertion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950377	NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)	RTEL1, RTEL1-TNFRSF6B (G473E +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 2950274	NM_001283009.2(RTEL1):c.2266-2A>G	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 2950170	NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)	RTEL1, RTEL1-TNFRSF6B (L883fs +2 more)	Deletion (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 2950155	NM_001283009.2(RTEL1):c.3339G>C (p.Leu1113=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2950131	NM_001283009.2(RTEL1):c.103-16T>C	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2949903	NM_001283009.2(RTEL1):c.552G>A (p.Glu184=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2949762	NM_001283009.2(RTEL1):c.1267-16G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2949757	NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)	RTEL1, RTEL1-TNFRSF6B (I1008L +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 2949649	NM_001283009.2(RTEL1):c.2503C>T (p.Leu835=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2949631	NM_001283009.2(RTEL1):c.2559C>G (p.Ala853=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2949532	NM_001283009.2(RTEL1):c.132G>C (p.Thr44=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2949393	NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)	RTEL1, RTEL1-TNFRSF6B (C711* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 2949248	NM_001283009.2(RTEL1):c.3499+2T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2949146	NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)	RTEL1, RTEL1-TNFRSF6B (T691A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2949095	NM_001283009.2(RTEL1):c.2397G>A (p.Leu799=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2949024	NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)	RTEL1, RTEL1-TNFRSF6B (I335N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2948776	NM_001283009.2(RTEL1):c.1879-7C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948772	NM_001283009.2(RTEL1):c.2557-1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2948710	NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)	RTEL1, RTEL1-TNFRSF6B (S371fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 2948691	NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)	RTEL1, RTEL1-TNFRSF6B (K1288R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2948651	NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)	RTEL1, RTEL1-TNFRSF6B (L962P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2948562	NM_001283009.2(RTEL1):c.1716C>T (p.Phe572=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948502	NM_001283009.2(RTEL1):c.2992+12C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948488	NM_001283009.2(RTEL1):c.3499+17G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948301	NM_001283009.2(RTEL1):c.919+2T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2948294	NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)	RTEL1, RTEL1-TNFRSF6B (P43S)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2948210	NM_001283009.2(RTEL1):c.958+20C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948190	NM_001283009.2(RTEL1):c.1481+8C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2948189	NM_001283009.2(RTEL1):c.3109+14G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2947681	NM_001283009.2(RTEL1):c.919+4C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2947623	NM_001283009.2(RTEL1):c.1267-10del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2947569	NM_001283009.2(RTEL1):c.919+18C>T	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2947487	NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)	RTEL1, RTEL1-TNFRSF6B (A206D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2947420	NM_001283009.2(RTEL1):c.3309C>A (p.Thr1103=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2947413	NM_001283009.2(RTEL1):c.765+7C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign

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