"Sema4, Sema4"[submitter] AND "RTEL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 747815	NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 1592176	NM_001283009.2(RTEL1):c.103-13G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 1093533	NM_001283009.2(RTEL1):c.150G>C (p.Leu50=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 1137357	NM_001283009.2(RTEL1):c.195C>T (p.Asp65=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 942838	NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr)	RTEL1, RTEL1-TNFRSF6B (S87T)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 540949	NM_001283009.2(RTEL1):c.301+7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1167520	NM_001283009.2(RTEL1):c.395+12G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GBenign/Likely benign
Select item 1055750	NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln)	RTEL1, RTEL1-TNFRSF6B (R141Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GUncertain significance
Select item 784579	NM_001283009.2(RTEL1):c.489C>T (p.Cys163=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 1692634	NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys)	RTEL1, RTEL1-TNFRSF6B (R164C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 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)	RTEL1-related condition +3 more	GUncertain significance
Select item 937455	NM_001283009.2(RTEL1):c.539-6C>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 436562	NM_001283009.2(RTEL1):c.612C>T (p.His204=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +5 more	GLikely benign
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 1106682	NM_001283009.2(RTEL1):c.675G>A (p.Pro225=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 967672	NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val)	RTEL1, RTEL1-TNFRSF6B (I17V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 840820	NM_001283009.2(RTEL1):c.763G>A (p.Val255Met)	RTEL1, RTEL1-TNFRSF6B (V279M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1114165	NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)	RTEL1, RTEL1-TNFRSF6B (A290V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 766054	NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GLikely benign
Select item 758334	NM_001283009.2(RTEL1):c.903G>A (p.Ala301=)	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 734142	NM_001283009.2(RTEL1):c.959-10C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +3 more	GBenign/Likely benign
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 473899	NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)	RTEL1-TNFRSF6B, RTEL1 (R324H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 436563	NM_001283009.2(RTEL1):c.973C>T (p.Leu325=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +5 more	GLikely benign
Select item 473901	NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 711514	NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser)	RTEL1, RTEL1-TNFRSF6B (G340S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign/Likely benign
Select item 570339	NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu)	RTEL1, RTEL1-TNFRSF6B (Q397E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
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 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 737411	NM_001283009.2(RTEL1):c.1348+6G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	RTEL1-related condition +3 more	GLikely benign
Select item 403406	NM_001283009.2(RTEL1):c.1349-13C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GLikely benign
Select item 726399	NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 784678	NM_001283009.2(RTEL1):c.1395C>T (p.His465=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1692610	NM_001283009.2(RTEL1):c.1481+8C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 712813	NM_001283009.2(RTEL1):c.1482-7C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +3 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)	RTEL1-related condition +3 more	GLikely benign
Select item 473907	NM_001283009.2(RTEL1):c.1595+9C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GLikely benign
Select item 1111331	NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=)	RTEL1-TNFRSF6B, RTEL1	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 436566	NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 709381	NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
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 1692611	NM_001283009.2(RTEL1):c.1723-13C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1692612	NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu)	RTEL1, RTEL1-TNFRSF6B (K372E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 540946	NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 791068	NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 1109241	NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=)	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 1543688	NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GLikely benign
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 1692613	NM_001283009.2(RTEL1):c.1968T>C (p.Val656=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1165540	NM_001283009.2(RTEL1):c.2142-3del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 732141	NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 1158462	NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 728463	NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=)	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 1692614	NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu)	RTEL1-TNFRSF6B, RTEL1 (R531L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 839112	NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val)	RTEL1-TNFRSF6B, RTEL1 (A758V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 1692615	NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val)	RTEL1-TNFRSF6B, RTEL1 (A537V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 991706	NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)	RTEL1, RTEL1-TNFRSF6B (G547R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 724191	NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	RTEL1-related condition +3 more	GLikely benign
Select item 1692616	NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala)	RTEL1, RTEL1-TNFRSF6B (P574A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1137229	NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 711569	NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	RTEL1, RTEL1-TNFRSF6B (G587R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 540960	NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)	RTEL1-TNFRSF6B, RTEL1 (S815I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 967062	NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)	RTEL1, RTEL1-TNFRSF6B (P824S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 1692617	NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala)	RTEL1, RTEL1-TNFRSF6B (V602A +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 736840	NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=)	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 1692618	NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val)	RTEL1, RTEL1-TNFRSF6B (L615V +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 1692619	NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro)	RTEL1, RTEL1-TNFRSF6B (H631P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1017995	NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe)	RTEL1, RTEL1-TNFRSF6B (S640F +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 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 960583	NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr)	RTEL1, RTEL1-TNFRSF6B (A892T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 971878	NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg)	RTEL1, RTEL1-TNFRSF6B (G650R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 436591	NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)	RTEL1, RTEL1-TNFRSF6B (P884L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GUncertain significance
Select item 1692621	NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
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)	RTEL1-related condition +4 more	GLikely benign
Select item 540965	NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)	RTEL1, RTEL1-TNFRSF6B (T893M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1692622	NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile)	RTEL1, RTEL1-TNFRSF6B (M677I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 789462	NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GLikely benign
Select item 1129622	NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=)	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 540943	NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GBenign/Likely benign
Select item 1692623	NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val)	RTEL1, RTEL1-TNFRSF6B (A709V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 540927	NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=)	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GLikely 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)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 715152	NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu)	RTEL1, RTEL1-TNFRSF6B (P714L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
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)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 1692624	NM_001283009.2(RTEL1):c.2852-12C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1141972	NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 436573	NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 761320	NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)	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 639594	NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu)	RTEL1, RTEL1-TNFRSF6B (V967L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 657337	NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	RTEL1, RTEL1-TNFRSF6B (T996I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 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)	not specified +5 more	GBenign/Likely benign
Select item 1118177	NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=)	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more	GLikely benign
Select item 1692625	NM_001283009.2(RTEL1):c.2979C>A (p.Val993=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
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)	Dyskeratosis congenita +5 more	GConflicting classifications of pathogenicity
Select item 727778	NM_001283009.2(RTEL1):c.2993-8_2993-6del	RTEL1, RTEL1-TNFRSF6B	Deletion (intron variant)	RTEL1-related condition +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)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 734218	NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +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)	not provided +4 more	GUncertain significance

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