"Baylor Genetics"[submitter] AND "RTEL1"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678466	NM_001283009.2(RTEL1):c.276del (p.Ala93fs)	RTEL1, RTEL1-TNFRSF6B (A93fs)	Deletion (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678460	NM_001283009.2(RTEL1):c.302-2A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	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 1028486	NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln)	RTEL1, RTEL1-TNFRSF6B (R127Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	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 2678464	NM_001283009.2(RTEL1):c.396-59del	RTEL1, RTEL1-TNFRSF6B (A137fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 2678468	NM_001283009.2(RTEL1):c.478-2A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678467	NM_001283009.2(RTEL1):c.614+1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	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 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 2678480	NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)	RTEL1, RTEL1-TNFRSF6B (S274fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 2678482	NM_001283009.2(RTEL1):c.919+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 1408272	NM_001283009.2(RTEL1):c.984del (p.Ile329fs)	RTEL1, RTEL1-TNFRSF6B (I106fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 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 1028483	NM_001283009.2(RTEL1):c.1069A>T (p.Ile357Phe)	RTEL1, RTEL1-TNFRSF6B (I381F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
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 947624	NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys)	RTEL1, RTEL1-TNFRSF6B (E430K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1068424	NM_001283009.2(RTEL1):c.1236_1266+47del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 858747	NM_001283009.2(RTEL1):c.1266+3_1266+80del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 2678484	NM_001283009.2(RTEL1):c.1249dup (p.Ala417fs)	RTEL1, RTEL1-TNFRSF6B (A194fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678483	NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)	RTEL1, RTEL1-TNFRSF6B (Q196fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678487	NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)	RTEL1, RTEL1-TNFRSF6B (K199* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 2942709	NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)	RTEL1, RTEL1-TNFRSF6B (R226* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 1071073	NM_001283009.2(RTEL1):c.1458del (p.Ser487fs)	RTEL1, RTEL1-TNFRSF6B (S264fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 42019	NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	RTEL1, RTEL1-TNFRSF6B (M516I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2678463	NM_001283009.2(RTEL1):c.1637-24_1637del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678459	NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)	RTEL1, RTEL1-TNFRSF6B (V418M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 2135576	NM_001283009.2(RTEL1):c.2026-2A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2678469	NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)	RTEL1-TNFRSF6B, RTEL1 (A464fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 959673	NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)	RTEL1, RTEL1-TNFRSF6B (R697* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 2678474	NM_001283009.2(RTEL1):c.2141+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 1500810	NM_001283009.2(RTEL1):c.2142-2A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 2678479	NM_001283009.2(RTEL1):c.2142-1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2678476	NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)	RTEL1, RTEL1-TNFRSF6B (W504* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 1400190	NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)	RTEL1, RTEL1-TNFRSF6B (R743* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 2678470	NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)	RTEL1, RTEL1-TNFRSF6B (Q524fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678461	NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)	RTEL1, RTEL1-TNFRSF6B (R527fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 1067185	NM_001283009.2(RTEL1):c.2265+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2678471	NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)	RTEL1, RTEL1-TNFRSF6B (A566fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678488	NM_001283009.2(RTEL1):c.2413+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 2678465	NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)	RTEL1, RTEL1-TNFRSF6B (Q620* +2 more)	Single nucleotide variant (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 1076689	NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)	RTEL1, RTEL1-TNFRSF6B (Q629* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 1984717	NM_001283009.2(RTEL1):c.2557-2A>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 1028484	NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe)	RTEL1, RTEL1-TNFRSF6B (S637F +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 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 436589	NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu)	RTEL1, RTEL1-TNFRSF6B (P867L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GUncertain significance
Select item 2678477	NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)	RTEL1, RTEL1-TNFRSF6B (E647* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
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 2678486	NM_001283009.2(RTEL1):c.2653-3_2653-1del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678475	NM_001283009.2(RTEL1):c.2653-1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678489	NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)	RTEL1, RTEL1-TNFRSF6B (Q669* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678481	NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)	RTEL1, RTEL1-TNFRSF6B (D671fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 941068	NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)	RTEL1, RTEL1-TNFRSF6B (Q686* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic/Likely pathogenic
Select item 2678472	NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)	RTEL1, RTEL1-TNFRSF6B (F689fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678462	NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)	RTEL1, RTEL1-TNFRSF6B (G713fs +2 more)	Indel (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 2678473	NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)	RTEL1, RTEL1-TNFRSF6B (E718fs +2 more)	Duplication (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 1325019	NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)	RTEL1, RTEL1-TNFRSF6B (E718* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely 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 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 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 548700	NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)	RTEL1, RTEL1-TNFRSF6B (R763fs +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 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 2678485	NM_001283009.2(RTEL1):c.2992+1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	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 2678478	NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)	RTEL1, RTEL1-TNFRSF6B (Q1044fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 1076662	NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs)	RTEL1, RTEL1-TNFRSF6B (S1047fs +2 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 957573	NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)	RTEL1, RTEL1-TNFRSF6B (Q1081* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 1031527	NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val)	RTEL1, RTEL1-TNFRSF6B (L1088V +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 1028485	NM_001283009.2(RTEL1):c.3283G>A (p.Val1095Met)	RTEL1, RTEL1-TNFRSF6B (V1095M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 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 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 654387	NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp)	RTEL1, RTEL1-TNFRSF6B (R915W +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 582053	NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)	RTEL1, RTEL1-TNFRSF6B (V1179M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1492218	NM_001283009.2(RTEL1):c.3500-1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 2169622	NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)	RTEL1, RTEL1-TNFRSF6B (Q1187fs +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 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 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

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Items: 89