"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1184806	NM_001283009.2(RTEL1):c.477+35C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 496489	NM_001283009.2(RTEL1):c.766-19G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 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 1184746	NM_001283009.2(RTEL1):c.1038-104G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +3 more	GBenign
Select item 1184747	NM_001283009.2(RTEL1):c.1596-28T>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184749	NM_001283009.2(RTEL1):c.1637-50A>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 403398	NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403401	NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 1184769	NM_001283009.2(RTEL1):c.2557-89G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 991710	NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
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)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign
Select item 403403	NM_001283009.2(RTEL1):c.3499+5G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +3 more	GBenign