"PreventionGenetics, part of Exact Sciences"[submitter] AND "RTEL1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1014888	NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu)	RTEL1, RTEL1-TNFRSF6B (F15L)	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder +2 more	GUncertain significance
Select item 2927984	NM_001283009.2(RTEL1):c.103-12_103-6dup	RTEL1, RTEL1-TNFRSF6B	Duplication (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 3034453	NM_001283009.2(RTEL1):c.351G>C (p.Ser117=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder	GLikely benign
Select item 3053021	NM_001283009.2(RTEL1):c.396-75C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder	GLikely benign
Select item 436561	NM_001283009.2(RTEL1):c.396-37C>T	RTEL1, RTEL1-TNFRSF6B (T144I)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GBenign/Likely benign
Select item 794848	NM_001283009.2(RTEL1):c.396-27T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1538149	NM_001283009.2(RTEL1):c.396-5A>C	RTEL1, RTEL1-TNFRSF6B (T155P)	Single nucleotide variant (missense variant +1 more)	RTEL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 719423	NM_001283009.2(RTEL1):c.477+10T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 966783	NM_001283009.2(RTEL1):c.491G>A (p.Arg164His)	RTEL1, RTEL1-TNFRSF6B (R188H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder +2 more	GUncertain significance
Select item 1439895	NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala)	RTEL1, RTEL1-TNFRSF6B (V202A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 651744	NM_001283009.2(RTEL1):c.538+3A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +4 more	GUncertain significance
Select item 1129798	NM_001283009.2(RTEL1):c.546C>T (p.Ser182=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 436562	NM_001283009.2(RTEL1):c.612C>T (p.His204=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GLikely benign
Select item 729951	NM_001283009.2(RTEL1):c.762C>T (p.Asn254=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GBenign/Likely benign
Select item 1136064	NM_001283009.2(RTEL1):c.891G>A (p.Pro297=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 558110	NM_001283009.2(RTEL1):c.897del (p.Phe299fs)	RTEL1, RTEL1-TNFRSF6B (F323fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 763174	NM_001283009.2(RTEL1):c.1037+10G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GLikely benign
Select item 540930	NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val)	RTEL1-TNFRSF6B, RTEL1 (A393V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GUncertain significance
Select item 473903	NM_001283009.2(RTEL1):c.1192-9del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	RTEL1-related disorder +3 more	GBenign/Likely benign
Select item 2167112	NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)	RTEL1, RTEL1-TNFRSF6B (S401C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 858747	NM_001283009.2(RTEL1):c.1266+3_1266+80del	RTEL1-TNFRSF6B, RTEL1	Deletion (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 1352927	NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg)	RTEL1, RTEL1-TNFRSF6B (G193R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GUncertain significance
Select item 762845	NM_001283009.2(RTEL1):c.1266+9C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3055325	NM_001283009.2(RTEL1):c.1279C>T (p.Pro427Ser)	RTEL1, RTEL1-TNFRSF6B (P204S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 642379	NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)	RTEL1-TNFRSF6B, RTEL1 (T211M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2151257	NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)	RTEL1-TNFRSF6B, RTEL1 (A222T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 737411	NM_001283009.2(RTEL1):c.1348+6G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GLikely benign
Select item 436565	NM_001283009.2(RTEL1):c.1349-9G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 1135124	NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 745495	NM_001283009.2(RTEL1):c.1482-10C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GBenign/Likely benign
Select item 712813	NM_001283009.2(RTEL1):c.1482-7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +3 more	GLikely benign
Select item 2928633	NM_001283009.2(RTEL1):c.1548C>A (p.Val516=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 732523	NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign
Select item 729959	NM_001283009.2(RTEL1):c.1602C>T (p.Ser534=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 657363	NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro)	RTEL1, RTEL1-TNFRSF6B (L334P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
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)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
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)	Inborn genetic diseases +4 more	GUncertain significance
Select item 744165	NM_001283009.2(RTEL1):c.1806C>T (p.Ile602=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 1149162	NM_001283009.2(RTEL1):c.1851C>T (p.Ala617=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 2631080	NM_001283009.2(RTEL1):c.1958A>G (p.Asp653Gly)	RTEL1, RTEL1-TNFRSF6B (D430G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 1122113	NM_001283009.2(RTEL1):c.2025+10A>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GLikely benign
Select item 1706103	NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)	RTEL1, RTEL1-TNFRSF6B (Q457H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 666914	NM_001283009.2(RTEL1):c.2142-7C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 732833	NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr)	RTEL1, RTEL1-TNFRSF6B (A493T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GBenign/Likely benign
Select item 1661046	NM_001283009.2(RTEL1):c.2170C>T (p.Leu724=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GLikely benign
Select item 724191	NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GLikely benign
Select item 540947	NM_001283009.2(RTEL1):c.2414-6C>T	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GBenign/Likely benign
Select item 540960	NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)	RTEL1, RTEL1-TNFRSF6B (S815I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3032251	NM_001283009.2(RTEL1):c.2467G>A (p.Glu823Lys)	RTEL1, RTEL1-TNFRSF6B (E600K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 2930224	NM_001283009.2(RTEL1):c.2547C>G (p.Gly849=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
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 662317	NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys)	RTEL1, RTEL1-TNFRSF6B (R875K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 555961	NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)	RTEL1, RTEL1-TNFRSF6B (K877del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 540929	NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val)	RTEL1, RTEL1-TNFRSF6B (L904V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GUncertain significance
Select item 1134402	NM_001283009.2(RTEL1):c.2653-6C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GLikely benign
Select item 540950	NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +5 more	GBenign/Likely benign
Select item 719059	NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu)	RTEL1, RTEL1-TNFRSF6B (V912L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GLikely benign
Select item 3061543	NM_001283009.2(RTEL1):c.2709G>A (p.Val903=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GLikely benign
Select item 2145971	NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)	RTEL1, RTEL1-TNFRSF6B (L919V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 436569	NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GBenign/Likely benign
Select item 436570	NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +6 more	GBenign/Likely benign
Select item 710160	NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)	RTEL1, RTEL1-TNFRSF6B (D719N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 436571	NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu)	RTEL1-TNFRSF6B, RTEL1 (P943L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more	GUncertain significance
Select item 2085457	NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)	RTEL1, RTEL1-TNFRSF6B (K721E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GUncertain significance
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 +4 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 +3 more	GConflicting classifications of pathogenicity
Select item 657337	NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	RTEL1-TNFRSF6B, RTEL1 (T996I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1387000	NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys)	RTEL1, RTEL1-TNFRSF6B (Y978C +2 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 769111	NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GLikely benign
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 +4 more	GPathogenic/Likely pathogenic
Select item 217285	NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	RTEL1-TNFRSF6B, RTEL1 (R986Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 436575	NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu)	RTEL1, RTEL1-TNFRSF6B (P1016L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GBenign/Likely benign
Select item 1118177	NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 731868	NM_001283009.2(RTEL1):c.2979C>G (p.Val993=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 436594	NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)	RTEL1, RTEL1-TNFRSF6B (P1020H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GConflicting classifications of pathogenicity
Select item 727778	NM_001283009.2(RTEL1):c.2993-8_2993-6del	RTEL1-TNFRSF6B, RTEL1	Deletion (intron variant)	RTEL1-related disorder +3 more	GBenign/Likely benign
Select item 1692626	NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser)	RTEL1, RTEL1-TNFRSF6B (T1007S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GUncertain significance
Select item 970824	NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met)	RTEL1, RTEL1-TNFRSF6B (V1008M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 540961	NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)	RTEL1, RTEL1-TNFRSF6B (D1041N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GBenign/Likely benign
Select item 734218	NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GLikely benign
Select item 636919	NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +4 more	GUncertain significance
Select item 1692627	NM_001283009.2(RTEL1):c.3109+5C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 969248	NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)	RTEL1, RTEL1-TNFRSF6B (R1092H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2633608	NM_001283009.2(RTEL1):c.3214G>A (p.Gly1072Arg)	RTEL1, RTEL1-TNFRSF6B (G1072R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 473919	NM_001283009.2(RTEL1):c.3219C>T (p.Ser1073=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 716708	NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 2631337	NM_001283009.2(RTEL1):c.3240G>C (p.Leu1080Phe)	RTEL1, RTEL1-TNFRSF6B (L1080F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 1086839	NM_001283009.2(RTEL1):c.3246G>A (p.Ala1082=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 2630729	NM_001283009.2(RTEL1):c.3253G>T (p.Ala1085Ser)	RTEL1, RTEL1-TNFRSF6B (A1085S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder	GUncertain significance
Select item 739535	NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GLikely benign
Select item 1351371	NM_001283009.2(RTEL1):c.3277G>A (p.Asp1093Asn)	RTEL1, RTEL1-TNFRSF6B (D1093N +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 779625	NM_001283009.2(RTEL1):c.3286C>T (p.Leu1096=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GLikely benign
Select item 2151014	NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)	RTEL1, RTEL1-TNFRSF6B (H1114Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1085220	NM_001283009.2(RTEL1):c.3343+8G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 3050715	NM_001283009.2(RTEL1):c.3344-7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder	GLikely benign
Select item 436578	NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 2199416	NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)	RTEL1, RTEL1-TNFRSF6B (P1169S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related disorder +2 more	GUncertain significance
Select item 2632142	NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)	RTEL1, RTEL1-TNFRSF6B (E1150K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 1139793	NM_001283009.2(RTEL1):c.3500-8G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related disorder +2 more	GLikely benign

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