"Counsyl"[submitter] AND "TNFRSF6B"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552668	NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs)	RTEL1, RTEL1-TNFRSF6B +1 more (F57fs)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 556165	NC_000020.11:g.63696942C>T	RTEL1, RTEL1-TNFRSF6B +1 more (Q59*)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 551842	NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr)	RTEL1, RTEL1-TNFRSF6B +1 more (H122Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 550480	NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val)	RTEL1, RTEL1-TNFRSF6B +1 more (A248V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550342	NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys)	RTEL1, RTEL1-TNFRSF6B +1 more (R250C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 550354	NC_000020.11:g.63698429C>A	RTEL1, RTEL1-TNFRSF6B +1 more (L257M)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550121	NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys)	RTEL1, RTEL1-TNFRSF6B +1 more (R258C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550566	NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His)	RTEL1, RTEL1-TNFRSF6B +1 more (R258H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 550580	NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met)	RTEL1, RTEL1-TNFRSF6B +1 more (T262M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550108	NC_000020.11:g.63698447G>A	RTEL1, RTEL1-TNFRSF6B +1 more (E263K)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550464	NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp)	RTEL1, RTEL1-TNFRSF6B +1 more (R275W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 550568	NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=)	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550441	NC_000020.11:g.63698501C>T	RTEL1, RTEL1-TNFRSF6B +1 more (R281C)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550727	NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg)	TNFRSF6B, RTEL1 +1 more (G287R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 551185	NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=)	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 550851	NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His)	RTEL1, RTEL1-TNFRSF6B +1 more (R293H)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +2 more	GUncertain significance
Select item 550446	NC_000020.11:g.63698566C>T	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550400	NC_000020.11:g.63698573C>T	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550403	NC_000020.11:g.63698638G>A	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550432	NC_000020.11:g.63698646G>A	RTEL1, RTEL1-TNFRSF6B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 550590	NC_000020.11:g.63698647T>C	ARFRP1, RTEL1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21