C3554656[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +4 more	GUncertain significance
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 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 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 573620	NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile)	RTEL1, RTEL1-TNFRSF6B (T287I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1370422	NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys)	RTEL1, RTEL1-TNFRSF6B (R324C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 991703	NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg)	RTEL1, RTEL1-TNFRSF6B (P112R +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 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)	not provided +3 more	GUncertain significance
Select item 557312	NM_001283009.2(RTEL1):c.1266+3A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1595528	NM_001283009.2(RTEL1):c.1266+11C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 967124	NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr)	RTEL1, RTEL1-TNFRSF6B (H242Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 991704	NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys)	RTEL1, RTEL1-TNFRSF6B (E243K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 572006	NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp)	RTEL1-TNFRSF6B, RTEL1 (R655W +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 65414	NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met)	RTEL1, RTEL1-TNFRSF6B (V745M +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 1313462	NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala)	RTEL1, RTEL1-TNFRSF6B (P536A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 659476	NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His)	RTEL1, RTEL1-TNFRSF6B (R793H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1506720	NM_001283009.2(RTEL1):c.2414-14G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
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)	not provided +3 more	GUncertain significance
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)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
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 577500	NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)	RTEL1, RTEL1-TNFRSF6B (L962fs +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 1448826	NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu)	RTEL1, RTEL1-TNFRSF6B (V980L +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 540932	NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln)	RTEL1-TNFRSF6B, RTEL1 (H959Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GUncertain significance
Select item 967384	NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser)	RTEL1, RTEL1-TNFRSF6B (C992S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
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 967770	NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)	RTEL1, RTEL1-TNFRSF6B (R1013W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 1428471	NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val)	RTEL1, RTEL1-TNFRSF6B (L994V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GConflicting classifications of pathogenicity
Select item 658266	NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)	RTEL1, RTEL1-TNFRSF6B (P1165L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 664830	NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn)	RTEL1, RTEL1-TNFRSF6B (K1200N +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 754500	NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GLikely benign
Select item 656263	NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)	RTEL1, RTEL1-TNFRSF6B (A1240fs)	Microsatellite (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 42018	NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	RTEL1-TNFRSF6B, RTEL1 (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: 33