Full data view for gene TERT

Information The variants shown are described using the NM_198253.2 transcript reference sequence.

307 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.76A>G r.(?) p.(Thr26Ala) Unknown - likely benign g.1295029T>C g.1294914T>C TERT(NM_001193376.1):c.76A>G (p.(Thr26Ala)) - TERT_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Thr26Met) Unknown - VUS g.1295028G>A g.1294913G>A TERT(NM_198253.2):c.77C>T (p.T26M) - TERT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89G>T r.(?) p.(Arg30Leu) Unknown - VUS g.1295016C>A - TERT(NM_198253.2):c.89G>T (p.R30L) - TERT_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.97C>T r.(?) p.(Pro33Ser) Parent #1 - pathogenic g.1295008G>A g.1294893G>A - - TERT_000072 data copied from the Telomerase database PubMed: Tsakiri 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17460043-? PubMed: Tsakiri 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.129C>T r.(?) p.(Asp43=) Unknown - likely benign g.1294976G>A - TERT(NM_198253.2):c.129C>T (p.D43=) - TERT_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.164T>A r.(?) p.(Leu55Gln) Parent #1 - pathogenic g.1294941A>T g.1294826A>T - - TERT_000071 data copied from the Telomerase database PubMed: Armanios 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17392301-? PubMed: Armanios 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.166G>C r.(?) p.(Val56Leu) Parent #1 - pathogenic g.1294939C>G g.1294824C>G - - TERT_000070 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - - - DNA SEQ - - anemia 21931702-? PubMed: Vulliamy 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.178T>G r.(?) p.(Trp60Gly) Unknown - VUS g.1294927A>C - TERT(NM_198253.3):c.178T>G (p.W60G) - TERT_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.193C>G r.(?) p.(Pro65Ala) Parent #1 - pathogenic g.1294912G>C g.1294797G>C - - TERT_000069 data copied from the Telomerase database PubMed: Calado 2009 - - Germline - - - - - DNA SEQ - - AML 19147845-? PubMed: Calado 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.219+7C>T r.(=) p.(=) Unknown - likely benign g.1294879G>A g.1294764G>A TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T - TERT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+7C>T r.(=) p.(=) Unknown - likely benign g.1294879G>A g.1294764G>A TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T - TERT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+7C>T r.(=) p.(=) Unknown - likely benign g.1294879G>A - TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T - TERT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+7C>T r.(=) p.(=) Unknown - likely benign g.1294879G>A - TERT(NM_001193376.1):c.219+7C>T (p.(=)), TERT(NM_198253.2):c.219+7C>T, TERT(NM_198253.3):c.219+7C>T - TERT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+7C>T r.(?) p.(?) Unknown - likely benign g.1294879G>A - - - TERT_000103 - - - rs573817924 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219+7C>T r.(?) p.(?) Unknown - likely benign g.1294879G>A - - - TERT_000103 - - - rs573817924 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.248G>C r.(?) p.(Arg83Pro) Parent #1 - pathogenic g.1294753C>G g.1294638C>G - - TERT_000068 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - - - DNA SEQ - - anemia 21931702-? PubMed: Vulliamy 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.250G>A r.(?) p.(Val84Met) Unknown - likely benign g.1294751C>T g.1294636C>T - - TERT_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.277+1G>A r.spl p.? Parent #1 - pathogenic g.1294723C>T g.1294608C>T - - TERT_000067 data copied from the Telomerase database Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Armanios 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17392301-? PubMed: Armanios 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.330C>A r.(?) p.(Gly110=) Unknown - likely benign g.1294671G>T g.1294556G>T TERT(NM_198253.3):c.330C>A (p.G110=) - TERT_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.336del r.(?) p.(Glu113Argfs*15) Parent #1 - pathogenic g.1294671del g.1294556del c.(334_336)delC - TERT_000066 data copied from the Telomerase database PubMed: Armanios 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17392301-? PubMed: Armanios 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.343T>G r.(?) p.(Phe115Val) Unknown - likely benign g.1294658A>C g.1294543A>C TERT(NM_198253.2):c.343T>G (p.F115V) - TERT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.355G>A r.(?) p.(Val119Met) Unknown - likely pathogenic g.1294646C>T g.1294531C>T - - TERT_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395G>A r.(?) p.(Arg132Gln) Unknown - VUS g.1294606C>T g.1294491C>T TERT(NM_198253.2):c.395G>A (p.R132Q) - TERT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395G>A r.(?) p.(Arg132Gln) Unknown - VUS g.1294606C>T g.1294491C>T TERT(NM_198253.2):c.395G>A (p.R132Q) - TERT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403G>A r.(?) p.(Gly135Arg) Unknown - VUS g.1294598C>T g.1294483C>T TERT(NM_198253.3):c.403G>A (p.(Gly135Arg)) - TERT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403G>A r.(?) p.(Gly135Arg) Unknown - VUS g.1294598C>T - TERT(NM_198253.3):c.403G>A (p.(Gly135Arg)) - TERT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404G>C r.(?) p.(Gly135Ala) Unknown - likely benign g.1294597C>G - TERT(NM_198253.2):c.404G>C (p.(Gly135Ala)) - TERT_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.430G>A r.(?) p.(Val144Met) Parent #1 - pathogenic g.1294571C>T g.1294456C>T - - TERT_000065 data copied from the Telomerase database PubMed: Tsakiri 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17460043-? PubMed: Tsakiri 2007 - - - - - - - - - 1 Johan den Dunnen
?/. - c.469G>A r.(?) p.(Ala157Thr) Unknown - VUS g.1294532C>T g.1294417C>T TERT(NM_198253.2):c.469G>A (p.A157T) - TERT_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481C>T r.(?) p.(Leu161=) Unknown - likely benign g.1294520G>A - TERT(NM_198253.2):c.481C>T (p.L161=) - TERT_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.508G>A r.(?) p.(Val170Met) Parent #1 - pathogenic g.1294493C>T g.1294378C>T - - TERT_000064 data copied from the Telomerase database PubMed: Parry 2011 - - Germline - - - - - DNA SEQ - - PFBMFT1 21436073-? PubMed: Parry 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.534C>T r.(?) p.(Leu178=) Unknown - likely benign g.1294467G>A g.1294352G>A TERT(NM_198253.2):c.534C>T (p.L178=) - TERT_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583A>G r.(?) p.(Arg195Gly) Unknown - likely benign g.1294418T>C - TERT(NM_198253.2):c.583A>G (p.R195G) - TERT_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.604G>A r.(?) p.(Ala202Thr) Both (homozygous) - pathogenic g.1294397C>T g.1294282C>T - - TERT_000003 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DKCB3 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 2 c.604G>A r.(?) p.(Ala202Thr) Parent #1 - pathogenic g.1294397C>T g.1294282C>T - - TERT_000063 data copied from the Telomerase database PubMed: Vulliamy 2005 - - Germline - - - - - DNA SEQ - - anemia 15885610-? PubMed: Vulliamy 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.604G>A r.(?) p.(Ala202Thr) Parent #1 - pathogenic g.1294397C>T g.1294282C>T - - TERT_000063 data copied from the Telomerase database PubMed: Yamaguchi 2005 - - Germline - - - - - DNA SEQ - - anemia 15814878-? PubMed: Yamaguchi 2005 - - - - - - - - - 1 Johan den Dunnen
?/. - c.604G>A r.(?) p.(Ala202Thr) Unknown - VUS g.1294397C>T g.1294282C>T TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T) - TERT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>A r.(?) p.(Ala202Thr) Unknown - VUS g.1294397C>T g.1294282C>T TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T) - TERT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>A r.(?) p.(Ala202Thr) Unknown - VUS g.1294397C>T - TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T) - TERT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>A r.(?) p.(Ala202Thr) Unknown - VUS g.1294397C>T - TERT(NM_001193376.1):c.604G>A (p.(Ala202Thr)), TERT(NM_198253.2):c.604G>A (p.A202T), TERT(NM_198253.3):c.604G>A (p.A202T) - TERT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.645C>T r.(?) p.(Gly215=) Unknown - likely benign g.1294356G>A g.1294241G>A TERT(NM_198253.2):c.645C>T (p.G215=), TERT(NM_198253.3):c.645C>T (p.G215=) - TERT_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.645C>T r.(?) p.(Gly215=) Unknown - likely benign g.1294356G>A g.1294241G>A TERT(NM_198253.2):c.645C>T (p.G215=), TERT(NM_198253.3):c.645C>T (p.G215=) - TERT_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681T>A r.(?) p.(Ser227Arg) Unknown - likely benign g.1294320A>T - TERT(NM_198253.2):c.681T>A (p.S227R) - TERT_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.757C>T r.(?) p.(Gln253*) Unknown - pathogenic g.1294244G>A - TERT(NM_198253.3):c.757C>T (p.Q253*) - TERT_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.779G>A r.(?) p.(Gly260Asp) Parent #1 - pathogenic g.1294222C>T g.1294107C>T - - TERT_000062 data copied from the Telomerase database PubMed: Calado 2009.1 - - Germline - - - - - DNA SEQ - - anemia 19674077-? PubMed: Calado 2009.1 - - - - - - - - - 1 Johan den Dunnen
+/. - c.(?_788)_(1573+224_?)del r.? p.? Paternal (confirmed) - likely pathogenic g.(?_1293204)_(1294213_?)del g.(?_1293089)_(1294098_?)del - - TERT_000206 - PubMed: Wheeler 2025 - - Germline - - - - - DNA arrayCGH, OM, SEQ, SEQ-NG - WES ? patient PubMed: Wheeler 2025 2-generation family, 1 affected M - United States - - - - - 1 Johan den Dunnen
-?/. - c.810C>T r.(?) p.(Phe270=) Unknown - likely benign g.1294191G>A g.1294076G>A TERT(NM_001193376.1):c.810C>T (p.(Phe270=)), TERT(NM_198253.3):c.810C>T (p.F270=) - TERT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810C>T r.(?) p.(Phe270=) Unknown - likely benign g.1294191G>A - TERT(NM_001193376.1):c.810C>T (p.(Phe270=)), TERT(NM_198253.3):c.810C>T (p.F270=) - TERT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.835G>A r.(?) p.(Ala279Thr) Parent #1 - benign g.1294166C>T g.1294051C>T 1849C>T - TERT_000061 data copied from the Telomerase database PubMed: Du 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 18931339-? PubMed: Du 2009 - - - - - - - - - 1 Johan den Dunnen
-/. 4 c.835G>A r.(?) p.(Ala279Thr) Parent #1 - benign g.1294166C>T g.1294051C>T 1849C>T - TERT_000061 data copied from the Telomerase database PubMed: Alder 2008 - - Germline - - - - - DNA SEQ - - Healthy/Control 18753630-? PubMed: Alder 2008 - - - - - - - - - 1 Johan den Dunnen
-/. 4 c.835G>A r.(?) p.(Ala279Thr) Parent #1 - benign g.1294166C>T g.1294051C>T 1849C>T - TERT_000061 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - - - DNA SEQ - - Healthy/Control 16332973-? PubMed: Vulliamy 2006 - - - - - - - - - 1 Johan den Dunnen
-/. - c.835G>A r.(?) p.(Ala279Thr) Unknown - benign g.1294166C>T g.1294051C>T TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T) - TERT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.835G>A r.(?) p.(Ala279Thr) Unknown - benign g.1294166C>T g.1294051C>T TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T) - TERT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.835G>A r.(?) p.(Ala279Thr) Unknown - benign g.1294166C>T g.1294051C>T TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T) - TERT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.835G>A r.(?) p.(Ala279Thr) Unknown - benign g.1294166C>T g.1294051C>T TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T) - TERT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.835G>A r.(?) p.(Ala279Thr) Unknown - benign g.1294166C>T g.1294051C>T TERT(NM_001193376.1):c.835G>A (p.(Ala279Thr)), TERT(NM_198253.2):c.835G>A (p.A279T), TERT(NM_198253.3):c.835G>A (p.A279T) - TERT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.835G>A r.(?) p.(Ala279Thr) Parent #1 - benign g.1294166C>T g.1294051C>T - - TERT_000061 67 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61748181 Germline - 67/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 67 Mohammed Faruq
-/. - c.835G>A r.(?) p.(Ala279Thr) Both (homozygous) - benign g.1294166C>T g.1294051C>T - - TERT_000061 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61748181 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - likely benign g.1294163C>T g.1294048C>T TERT(NM_198253.3):c.838G>A (p.E280K) - TERT_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - likely benign g.1294163C>T - TERT(NM_198253.3):c.838G>A (p.E280K) - TERT_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Ser295=) Unknown - likely benign g.1294116G>A - TERT(NM_198253.2):c.885C>T (p.S295=) - TERT_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.895G>A r.(?) p.(Val299Met) Parent #1 - pathogenic g.1294106C>T g.1293991C>T - - TERT_000060 data copied from the Telomerase database PubMed: Calado 2009 - - Germline - - - - - DNA SEQ - - AML 19147845-? PubMed: Calado 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.915G>A r.(?) p.(Ala305=) Unknown - benign g.1294086C>T g.1293971C>T TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=) - TERT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915G>A r.(?) p.(Ala305=) Unknown - benign g.1294086C>T g.1293971C>T TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=) - TERT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915G>A r.(?) p.(Ala305=) Unknown - benign g.1294086C>T - TERT(NM_198253.2):c.915G>A (p.A305=), TERT(NM_198253.3):c.915G>A (p.A305=) - TERT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919C>A r.(?) p.(Pro307Thr) Unknown - likely benign g.1294082G>T - TERT(NM_198253.2):c.919C>A (p.P307T) - TERT_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.943C>A r.(?) p.(Arg315Ser) Unknown - likely benign g.1294058G>T - TERT(NM_198253.2):c.943C>A (p.R315S) - TERT_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.949T>C r.(?) p.(Trp317Arg) Unknown - likely benign g.1294052A>G g.1293937A>G TERT(NM_198253.2):c.949T>C (p.W317R) - TERT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973T>G r.(?) p.(Tyr325Asp) Unknown - VUS g.1294028A>C - - - TERT_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1103C>T r.(?) p.(Ser368Phe) Parent #1 - pathogenic g.1293898G>A g.1293783G>A - - TERT_000059 data copied from the Telomerase database PubMed: Calado 2009.2 - - Germline - - - - - DNA SEQ - - PFBMFT1 19936245-? PubMed: Calado 2009.2 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1130G>A r.(?) p.(Arg377His) Unknown - likely benign g.1293871C>T g.1293756C>T TERT(NM_198253.2):c.1130G>A (p.R377H) - TERT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138C>T r.(?) p.(Pro380Ser) Unknown - likely benign g.1293863G>A g.1293748G>A TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S) - TERT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1138C>T r.(?) p.(Pro380Ser) Unknown - likely benign g.1293863G>A g.1293748G>A TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S) - TERT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1138C>T r.(?) p.(Pro380Ser) Unknown - benign g.1293863G>A g.1293748G>A - - TERT_000096 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.035 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1138C>T r.(?) p.(Pro380Ser) Unknown - likely benign g.1293863G>A - TERT(NM_198253.2):c.1138C>T (p.P380S), TERT(NM_198253.3):c.1138C>T (p.P380S) - TERT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1142G>C r.(?) p.(Arg381Pro) Parent #1 - pathogenic g.1293859C>G g.1293744C>G - - TERT_000058 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - - - DNA SEQ - - DKCA2;DCKB4 21931702-? PubMed: Vulliamy 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1151A>T r.(?) p.(Gln384Leu) Unknown - likely benign g.1293850T>A g.1293735T>A - - TERT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200C>T r.(?) p.(His400=) Unknown - likely benign g.1293801G>A g.1293686G>A TERT(NM_198253.2):c.1200C>T (p.H400=) - TERT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.1234C>T r.(?) p.(His412Tyr) Parent #1 - benign g.1293767G>A g.1293652G>A - - TERT_000057 data copied from the Telomerase database PubMed: Alder 2008 - - Germline - - - - - DNA SEQ - - Healthy/Control 18753630-? PubMed: Alder 2008 - - - - - - - - - 1 Johan den Dunnen
-/. 2 c.1234C>T r.(?) p.(His412Tyr) Parent #1 - benign g.1293767G>A g.1293652G>A - - TERT_000057 data copied from the Telomerase database PubMed: Yamaguchi 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control 15814878-? PubMed: Yamaguchi 2005 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - likely benign g.1293767G>A g.1293652G>A TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - likely benign g.1293767G>A g.1293652G>A TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - likely benign g.1293767G>A g.1293652G>A TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - benign g.1293767G>A g.1293652G>A TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234C>T r.(?) p.(His412Tyr) Parent #1 - likely benign g.1293767G>A g.1293652G>A - - TERT_000057 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34094720 Germline - 3/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. 2 c.1234C>T r.(?) p.(His412Tyr) Unknown - VUS g.1293767G>A g.1293652G>A - - TERT_000057 - PubMed: Juge 2017 - rs34094720 Germline/De novo (untested) ? - - - - DNA SEQ-NG - - IPF - PubMed: Juge 2017 - M ? France - >48y - - - 1 Joanne van der Vis
-?/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - likely benign g.1293767G>A g.1293652G>A TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1234C>T r.(?) p.(His412Tyr) Unknown - VUS g.1293767G>A - TERT(NM_001193376.1):c.1234C>T (p.(His412Tyr)), TERT(NM_198253.2):c.1234C>T (p.H412Y), TERT(NM_198253.3):c.1234C>T (p.H412Y) - TERT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.1323_1325del r.(?) p.(Glu441del) Parent #1 - benign g.1293684_1293686del g.1293569_1293571del c.1321_1323delGAG - TERT_000056 data copied from the Telomerase database PubMed: Yamaguchi 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control 15814878-? PubMed: Yamaguchi 2005 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1323_1325del r.(?) p.(Glu441del) Unknown - likely benign g.1293684_1293686del g.1293569_1293571del TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del) - TERT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323_1325del r.(?) p.(Glu441del) Unknown - likely benign g.1293684_1293686del g.1293569_1293571del TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del) - TERT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1323_1325del r.(?) p.(Glu441del) Unknown - VUS g.1293684_1293686del g.1293569_1293571del TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del) - TERT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323_1325del r.(?) p.(Glu441del) Unknown - likely benign g.1293684_1293686del g.1293569_1293571del TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del) - TERT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323_1325del r.(?) p.(Glu441del) Unknown - likely benign g.1293684_1293686del - TERT(NM_001193376.1):c.1323_1325del (p.(Glu441del)), TERT(NM_198253.2):c.1323_1325delGGA (p.E441del), TERT(NM_198253.3):c.1323_1325delGGA (p.E441del) - TERT_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392C>T r.(?) p.(Phe464=) Unknown - likely benign g.1293609G>A g.1293494G>A TERT(NM_198253.2):c.1392C>T (p.F464=) - TERT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392C>T r.(?) p.(Phe464=) Unknown - likely benign g.1293609G>A g.1293494G>A TERT(NM_198253.2):c.1392C>T (p.F464=) - TERT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1456C>T r.(?) p.(Arg486Cys) Parent #1 - pathogenic g.1293545G>A g.1293430G>A - - TERT_000055 data copied from the Telomerase database PubMed: Tsakiri 2007 - - Germline - - - - - DNA SEQ - - PFBMFT1 17460043-? PubMed: Tsakiri 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1565G>A r.(?) p.(Arg522Lys) Parent #1 - pathogenic g.1293436C>T g.1293321C>T - - TERT_000054 data copied from the Telomerase database PubMed: Calado 2009 - - Germline - - - - - DNA SEQ - - AML 19147845-? PubMed: Calado 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1570C>G r.(?) p.(Pro524Ala) Parent #1 - pathogenic g.1293431G>C g.1293316G>C - - TERT_000053 data copied from the Telomerase database PubMed: Collopy 2014 - - Germline - - - - - DNA SEQ - - anemia 24763404-? PubMed: Collopy 2014 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1574-3777G>T r.(=) p.(=) Unknown - benign g.1286516C>A - - - TERT_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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