C3151443[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 410677	NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr)	TERT (A1118T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 242237	NM_198253.3(TERT):c.3257G>A (p.Arg1086His)	TERT (R1086H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 655494	NM_198253.3(TERT):c.3103G>A (p.Val1035Ile)	TERT (V1035I +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 1163840	NM_198253.3(TERT):c.2836T>C (p.Tyr946His)	TERT (Y946H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 872809	NM_198253.3(TERT):c.2639C>T (p.Ala880Val)	TERT (A880V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 950401	NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	TERT (A880T)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +3 more	GPathogenic/Likely pathogenic
Select item 1163254	NM_198253.3(TERT):c.2608T>A (p.Phe870Ile)	TERT (F870I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 654228	NM_198253.3(TERT):c.2516C>T (p.Thr839Met)	TERT (T839M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 471864	NM_198253.3(TERT):c.2422G>A (p.Val808Ile)	TERT (V808I)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 436991	NM_198253.3(TERT):c.2227C>T (p.Arg743Trp)	TERT (R743W)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 165378	NM_198253.3(TERT):c.2225G>A (p.Arg742His)	TERT (R742H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 1433750	NM_198253.3(TERT):c.2152G>A (p.Asp718Asn)	TERT (D718N)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 2679139	NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)	TERT (Y707C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 2443278	NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)	TERT (R698W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2682879	NM_198253.3(TERT):c.2086C>T (p.Arg696Cys)	TERT (R696C)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 642400	NM_198253.3(TERT):c.2071C>T (p.Arg691Cys)	TERT (R691C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 446372	NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)	TERT (D684G)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +4 more	GConflicting classifications of pathogenicity
Select item 410693	NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	TERT (R671W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 1463067	NM_198253.3(TERT):c.2002G>A (p.Glu668Lys)	TERT (E668K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 916675	NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	TERT (R631W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GPathogenic/Likely pathogenic
Select item 2160452	NM_198253.3(TERT):c.1795C>T (p.Arg599Trp)	TERT (R599W)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 654082	NM_198253.3(TERT):c.1760T>C (p.Ile587Thr)	TERT (I587T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539214	NM_198253.3(TERT):c.863C>T (p.Ala288Val)	TERT (A288V)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 39124	NM_198253.3(TERT):c.430G>A (p.Val144Met)	TERT (V144M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 547957	NM_198253.3(TERT):c.142C>G (p.Arg48Gly)	LOC110806263, TERT (R48G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2	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: 25