"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165375	NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GBenign
Select item 39121	NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	TERT (A1062T +1 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 242223	NM_198253.3(TERT):c.2106G>A (p.Pro702=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +7 more	GConflicting classifications of pathogenicity
Select item 39107	NM_198253.3(TERT):c.2097C>T (p.Ala699=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GBenign
Select item 227096	NM_198253.3(TERT):c.2031C>T (p.Gly677=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +8 more	GBenign
Select item 227097	NM_198253.3(TERT):c.1950+10C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +6 more	GBenign
Select item 39125	NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	TERT (A279T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +7 more	GBenign
Select item 12729	NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	TERT (A202T)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity