"Revvity Omics, Revvity"[submitter] AND "TERT"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39121	NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	TERT (A1062T +1 more)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GConflicting classifications of pathogenicity
Select item 2437042	NM_198253.3(TERT):c.3063_3064delinsAT (p.Phe1021_His1022delinsLeuTyr)	TERT	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 852831	NM_198253.3(TERT):c.2270A>G (p.Lys757Arg)	TERT (K757R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 39111	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	TERT (T726M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity
Select item 1783882	NM_198253.3(TERT):c.1987A>C (p.Ser663Arg)	TERT (S663R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 2437043	NM_198253.3(TERT):c.1283G>A (p.Arg428Gln)	TERT (R428Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 12729	NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	TERT (A202T)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 350804	NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	TERT (S191T)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 646173	NM_198253.3(TERT):c.76A>G (p.Thr26Ala)	LOC110806263, TERT (T26A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance