RTEL1-TNFRSF6B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
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, RTEL1-TNFRSF6B	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 540967	NC_000020.10:g.(?_62290736)_(62327158_?)dup	RTEL1-TNFRSF6B, LOC128772425 +2 more	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1337403	NM_001283009.2(RTEL1):c.-9C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1456365	NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs)	RTEL1, RTEL1-TNFRSF6B (Q16fs)	Duplication (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 3027305	NM_001283009.2(RTEL1):c.5C>A (p.Pro2His)	RTEL1, RTEL1-TNFRSF6B (P2H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3031105	NM_001283009.2(RTEL1):c.6C>T (p.Pro2=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GLikely benign
Select item 582367	NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr)	RTEL1, RTEL1-TNFRSF6B (K3T)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 1089908	NM_001283009.2(RTEL1):c.9G>A (p.Lys3=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
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 747815	NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GLikely benign
Select item 1900075	NM_001283009.2(RTEL1):c.16C>T (p.Leu6=)	RTEL1-TNFRSF6B, RTEL1	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 2934954	NM_001283009.2(RTEL1):c.21T>C (p.Asn7=)	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 1387458	NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile)	RTEL1, RTEL1-TNFRSF6B (T10I)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 1625916	NM_001283009.2(RTEL1):c.30C>T (p.Thr10=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2158001	NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)	RTEL1, RTEL1-TNFRSF6B (V11I)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 1113551	NM_001283009.2(RTEL1):c.36C>T (p.Asp12=)	RTEL1-TNFRSF6B, RTEL1	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 1336357	NM_001283009.2(RTEL1):c.42T>C (p.Pro14=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1014888	NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu)	RTEL1, RTEL1-TNFRSF6B (F15L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GUncertain significance
Select item 1350840	NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)	RTEL1, RTEL1-TNFRSF6B (Q16*)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 2154176	NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)	RTEL1, RTEL1-TNFRSF6B (Q16R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 436596	NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)	RTEL1, RTEL1-TNFRSF6B (P17S)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 1575473	NM_001283009.2(RTEL1):c.51C>T (p.Pro17=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2419953	NM_001283009.2(RTEL1):c.54C>T (p.Tyr18=)	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 2311608	NM_001283009.2(RTEL1):c.55A>G (p.Lys19Glu)	RTEL1, RTEL1-TNFRSF6B (K19E)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1422913	NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg)	RTEL1, RTEL1-TNFRSF6B (K19R)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 1922902	NM_001283009.2(RTEL1):c.57A>G (p.Lys19=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1949453	NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)	RTEL1, RTEL1-TNFRSF6B (Q21*)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 2929200	NM_001283009.2(RTEL1):c.69G>A (p.Glu23=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1989845	NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)	RTEL1, RTEL1-TNFRSF6B (Y24*)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 1659343	NM_001283009.2(RTEL1):c.72C>T (p.Tyr24=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2006958	NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)	RTEL1, RTEL1-TNFRSF6B (M25I)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1368021	NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg)	RTEL1, RTEL1-TNFRSF6B (K27R)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1555138	NM_001283009.2(RTEL1):c.81G>A (p.Lys27=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2930200	NM_001283009.2(RTEL1):c.85C>T (p.Leu29=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2929794	NM_001283009.2(RTEL1):c.87G>A (p.Leu29=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 723295	NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
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 496487	NM_001283009.2(RTEL1):c.102+2T>C	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2930520	NM_001283009.2(RTEL1):c.102+7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1082967	NM_001283009.2(RTEL1):c.102+9C>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 1082930	NM_001283009.2(RTEL1):c.102+10A>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 1362135	NM_001283009.2(RTEL1):c.102+13C>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 2924167	NM_001283009.2(RTEL1):c.102+14C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2168399	NM_001283009.2(RTEL1):c.102+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 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 1553990	NM_001283009.2(RTEL1):c.102+16C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1449195	NM_001283009.2(RTEL1):c.102+17_102+18insTG	RTEL1, RTEL1-TNFRSF6B	Insertion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 2935065	NM_001283009.2(RTEL1):c.102+17G>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 1673585	NM_001283009.2(RTEL1):c.102+17G>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 2934217	NM_001283009.2(RTEL1):c.102+20G>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 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 2927984	NM_001283009.2(RTEL1):c.103-12_103-6dup	RTEL1, RTEL1-TNFRSF6B	Duplication (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +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 1656211	NM_001283009.2(RTEL1):c.103-15C>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 1565736	NM_001283009.2(RTEL1):c.103-15C>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 2924903	NM_001283009.2(RTEL1):c.103-14C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1592176	NM_001283009.2(RTEL1):c.103-13G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 1536927	NM_001283009.2(RTEL1):c.103-9T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2112752	NM_001283009.2(RTEL1):c.103-7del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 1083610	NM_001283009.2(RTEL1):c.103-8C>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 1980343	NM_001283009.2(RTEL1):c.103-7C>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 762489	NM_001283009.2(RTEL1):c.103-7C>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 473898	NM_001283009.2(RTEL1):c.103-6G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1106079	NM_001283009.2(RTEL1):c.105G>A (p.Lys35=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (5 prime UTR variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 2664707	NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)	RTEL1, RTEL1-TNFRSF6B (V36M)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 1605904	NM_001283009.2(RTEL1):c.114C>A (p.Gly38=)	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 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 1088172	NM_001283009.2(RTEL1):c.118C>T (p.Leu40=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GLikely benign
Select item 540963	NM_001283009.2(RTEL1):c.120G>A (p.Leu40=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 1090189	NM_001283009.2(RTEL1):c.126C>T (p.Ser42=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
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 2942033	NM_001283009.2(RTEL1):c.129T>G (p.Pro43=)	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 1127537	NM_001283009.2(RTEL1):c.129T>A (p.Pro43=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 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 1118487	NM_001283009.2(RTEL1):c.132G>A (p.Thr44=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign

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