"GeneDx"[submitter] AND "RTEL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	EEF1A2, FNDC11 +59 more	Copy number loss	See cases	GPathogenic
Select item 1260129	NM_001283009.2(RTEL1):c.-93C>T	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GBenign
Select item 1279544	NM_001283009.2(RTEL1):c.-59A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1804571	NM_001283009.2(RTEL1):c.102+91G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291608	NM_001283009.2(RTEL1):c.102+151A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230319	NM_001283009.2(RTEL1):c.103-242T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288813	NM_001283009.2(RTEL1):c.103-204G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 473898	NM_001283009.2(RTEL1):c.103-6G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1707769	NM_001283009.2(RTEL1):c.118C>G (p.Leu40Val)	RTEL1, RTEL1-TNFRSF6B (L40V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1703915	NM_001283009.2(RTEL1):c.146C>G (p.Thr49Arg)	RTEL1, RTEL1-TNFRSF6B (T49R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1800632	NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)	RTEL1, RTEL1-TNFRSF6B (T55S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GUncertain significance
Select item 634523	NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys)	RTEL1, RTEL1-TNFRSF6B (R70C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GUncertain significance
Select item 968714	NM_001283009.2(RTEL1):c.209G>A (p.Arg70His)	RTEL1, RTEL1-TNFRSF6B (R70H)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
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 specified +4 more	GUncertain significance
Select item 1232190	NM_001283009.2(RTEL1):c.302-85C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1102449	NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 436586	NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr)	RTEL1, RTEL1-TNFRSF6B (A112T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GUncertain significance
Select item 1169883	NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser)	RTEL1, RTEL1-TNFRSF6B (N124S)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 1184805	NM_001283009.2(RTEL1):c.395+164T>C	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1270978	NM_001283009.2(RTEL1):c.395+232C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636632	NM_001283009.2(RTEL1):c.396-68C>T	RTEL1, RTEL1-TNFRSF6B (R134C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 2430514	NM_001283009.2(RTEL1):c.464G>A (p.Ser155Asn)	RTEL1-TNFRSF6B, RTEL1 (S155N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1164262	NM_001283009.2(RTEL1):c.477+19G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 1184806	NM_001283009.2(RTEL1):c.477+35C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1279062	NM_001283009.2(RTEL1):c.477+43G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282430	NM_001283009.2(RTEL1):c.477+82G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278672	NM_001283009.2(RTEL1):c.478-88T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204829	NM_001283009.2(RTEL1):c.478-52C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263957	NM_001283009.2(RTEL1):c.478-24C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2144912	NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)	RTEL1, RTEL1-TNFRSF6B (V167M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1468281	NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile)	RTEL1, RTEL1-TNFRSF6B (V202I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GUncertain significance
Select item 1184807	NM_001283009.2(RTEL1):c.538+160A>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1723712	NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)	RTEL1, RTEL1-TNFRSF6B (E180G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1169884	NM_001283009.2(RTEL1):c.582T>C (p.Ile194=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 1272635	NM_001283009.2(RTEL1):c.614+124C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184808	NM_001283009.2(RTEL1):c.615-149C>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1232992	NM_001283009.2(RTEL1):c.615-36G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 565342	NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr)	RTEL1, RTEL1-TNFRSF6B (N214Y +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 1239069	NM_001283009.2(RTEL1):c.700-287T>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181603	NM_001283009.2(RTEL1):c.700-115G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1233348	NM_001283009.2(RTEL1):c.700-106G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1062396	NM_001283009.2(RTEL1):c.765+4A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1221147	NM_001283009.2(RTEL1):c.765+86G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276632	NM_001283009.2(RTEL1):c.765+87G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292000	NM_001283009.2(RTEL1):c.765+140G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229496	NM_001283009.2(RTEL1):c.765+204G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205676	NM_001283009.2(RTEL1):c.766-194A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496489	NM_001283009.2(RTEL1):c.766-19G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GBenign
Select item 1042528	NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn)	RTEL1, RTEL1-TNFRSF6B (K257N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 473924	NM_001283009.2(RTEL1):c.786G>A (p.Ser262=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 473925	NM_001283009.2(RTEL1):c.879T>C (p.Gly293=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 1712807	NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)	RTEL1-TNFRSF6B, RTEL1 (S300R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1183126	NM_001283009.2(RTEL1):c.919+94_919+95insTGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCCGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTG	RTEL1-TNFRSF6B, RTEL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1182911	NM_001283009.2(RTEL1):c.919+311A>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241502	NM_001283009.2(RTEL1):c.920-106T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 473897	NM_001283009.2(RTEL1):c.936G>A (p.Leu312=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GBenign/Likely benign
Select item 1314199	NM_001283009.2(RTEL1):c.958+4A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 496488	NM_001283009.2(RTEL1):c.958+18C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GBenign
Select item 540945	NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)	RTEL1, RTEL1-TNFRSF6B (M320T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 473900	NM_001283009.2(RTEL1):c.978G>A (p.Glu326=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 473901	NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GBenign/Likely benign
Select item 1259728	NM_001283009.2(RTEL1):c.1037+140A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215431	NM_001283009.2(RTEL1):c.1037+240GAACAGCACACACACTCCCAC[4]	RTEL1, RTEL1-TNFRSF6B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1274805	NM_001283009.2(RTEL1):c.1038-239C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184746	NM_001283009.2(RTEL1):c.1038-104G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1234909	NM_001283009.2(RTEL1):c.1038-74T>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253149	NM_001283009.2(RTEL1):c.1038-73T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580820	NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)	RTEL1, RTEL1-TNFRSF6B (F136L +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1233408	NM_001283009.2(RTEL1):c.1135+78G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224071	NM_001283009.2(RTEL1):c.1191+227T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246147	NM_001283009.2(RTEL1):c.1191+266G>T	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281730	NM_001283009.2(RTEL1):c.1192-246C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231422	NM_001283009.2(RTEL1):c.1192-242T>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264256	NM_001283009.2(RTEL1):c.1192-42G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 473903	NM_001283009.2(RTEL1):c.1192-9del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	RTEL1-related condition +3 more	GBenign/Likely benign
Select item 970832	NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala)	RTEL1, RTEL1-TNFRSF6B (V179A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 858747	NM_001283009.2(RTEL1):c.1266+3_1266+80del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more	GConflicting classifications of pathogenicity
Select item 2581789	NM_001283009.2(RTEL1):c.1256A>G (p.Gln419Arg)	RTEL1, RTEL1-TNFRSF6B (Q196R +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 1178630	NM_001283009.2(RTEL1):c.1349-135G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 1212765	NM_001283009.2(RTEL1):c.1349-14_1349-13delinsTT	RTEL1, RTEL1-TNFRSF6B	Indel (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GLikely benign
Select item 1312531	NM_001283009.2(RTEL1):c.1405C>A (p.Arg469Ser)	RTEL1, RTEL1-TNFRSF6B (R246S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 42019	NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	RTEL1-TNFRSF6B, RTEL1 (M516I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GPathogenic/Likely pathogenic
Select item 1274851	NM_001283009.2(RTEL1):c.1481+44_1481+45insTT	RTEL1, RTEL1-TNFRSF6B	Insertion (intron variant)	not provided	GBenign
Select item 1279699	NM_001283009.2(RTEL1):c.1482-82_1482-80dup	RTEL1, RTEL1-TNFRSF6B	Duplication (intron variant)	not provided	GBenign
Select item 473905	NM_001283009.2(RTEL1):c.1482-6G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 1403472	NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile)	RTEL1, RTEL1-TNFRSF6B (V515I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	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 1184747	NM_001283009.2(RTEL1):c.1596-28T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 1184748	NM_001283009.2(RTEL1):c.1636+29C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign
Select item 1184749	NM_001283009.2(RTEL1):c.1637-50A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 2663434	NM_001283009.2(RTEL1):c.1664G>C (p.Gly555Ala)	RTEL1, RTEL1-TNFRSF6B (G332A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 473909	NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile)	RTEL1-TNFRSF6B, RTEL1 (F559I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 436584	NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)	RTEL1, RTEL1-TNFRSF6B (R576H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 972556	NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn)	RTEL1, RTEL1-TNFRSF6B (D354N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GUncertain significance

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