"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 540948	NM_001283009.2(RTEL1):c.1548C>T (p.Val516=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GBenign/Likely 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 436567	NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 403398	NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 403400	NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
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 403401	NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
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 646165	NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met)	RTEL1, RTEL1-TNFRSF6B (V680M +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 473914	NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr)	RTEL1, RTEL1-TNFRSF6B (A929T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely 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 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 403402	NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)	RTEL1, RTEL1-TNFRSF6B (Q1042H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 540953	NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +4 more	GBenign/Likely benign
Select item 436581	NM_001283009.2(RTEL1):c.3823-5C>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita +4 more	GBenign/Likely benign