"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "RTEL1"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377557	NM_001283009.2(RTEL1):c.260C>T (p.Ser87Leu)	RTEL1, RTEL1-TNFRSF6B (S87L)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 1028486	NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln)	RTEL1, RTEL1-TNFRSF6B (R127Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1355686	NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp)	RTEL1, RTEL1-TNFRSF6B (R132W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 473909	NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile)	RTEL1, RTEL1-TNFRSF6B (F559I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 2147446	NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)	RTEL1, RTEL1-TNFRSF6B (N737S +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 552426	NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del)	RTEL1, RTEL1-TNFRSF6B (F784del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2585522	NM_001283009.2(RTEL1):c.2767A>G (p.Lys923Glu)	RTEL1, RTEL1-TNFRSF6B (K700E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 42020	NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	RTEL1-TNFRSF6B, RTEL1 (R998* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +5 more	GPathogenic
Select item 2927978	NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)	RTEL1, RTEL1-TNFRSF6B (F1208V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1331719	NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys)	RTEL1, RTEL1-TNFRSF6B (R1264C)	Single nucleotide variant (non-coding transcript variant +2 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	GUncertain significance