C3554656[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 473899	NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)	RTEL1, RTEL1-TNFRSF6B (R324H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
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)	not provided +4 more	GConflicting classifications of pathogenicity
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)	not provided +4 more	GUncertain significance
Select item 1685429	NM_001283009.2(RTEL1):c.2852-1G>C	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 5	GLikely pathogenic
Select item 803626	NM_001283009.2(RTEL1):c.2992+8G>A	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 540961	NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)	RTEL1, RTEL1-TNFRSF6B (D1041N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GBenign/Likely benign
Select item 403404	NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=)	TNFRSF6B, RTEL1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GBenign