All variants in the TINF2 gene

Information The variants shown are described using the NM_001099274.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.28G>T r.(?) p.(Ala10Ser) - VUS g.24711511C>A g.24242305C>A TINF2(NM_012461.2):c.28G>T (p.A10S) - TINF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.38G>T r.(?) p.(Arg13Leu) - VUS g.24711501C>A - TINF2(NM_001099274.3):c.38G>T (p.R13L) - GMPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.74G>C r.(?) p.(Gly25Ala) - benign g.24711465C>G g.24242259C>G TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.74G>C r.(?) p.(Gly25Ala) - likely benign g.24711465C>G g.24242259C>G TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.74G>C r.(?) p.(Gly25Ala) - likely benign g.24711465C>G - TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.193-7C>G r.(=) p.(=) - likely benign g.24711207G>C g.24242001G>C TINF2(NM_012461.2):c.193-7C>G - GMPR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.315G>A r.(?) p.(Arg105=) - likely benign g.24710965C>T g.24241759C>T TINF2(NM_012461.2):c.315G>A (p.R105=) - GMPR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.363G>C r.(?) p.(Leu121=) - likely benign g.24710917C>G g.24241711C>G TINF2(NM_012461.2):c.363G>C (p.L121=) - GMPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.464T>C r.(?) p.(Leu155Ser) - VUS g.24710453A>G - TINF2(NM_012461.2):c.464T>C (p.L155S) - GMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.557del r.(?) p.(Ser186PhefsTer24) - pathogenic g.24710273del - TINF2(NM_012461.2):c.557delC (p.S186Ffs*24) - TINF2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.578G>C r.(?) p.(Gly193Ala) - likely benign g.24710252C>G g.24241046C>G TINF2(NM_012461.2):c.578G>C (p.G193A) - GMPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.604G>C r.(?) p.(Glu202Gln) - likely pathogenic g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.604G>C r.(?) p.(Glu202Gln) - VUS g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.604G>C r.(?) p.(Glu202Gln) - likely pathogenic g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 6 c.640C>T r.(?) p.(Pro214Ser) - pathogenic g.24710046G>A g.24240840G>A - - TINF2_000001 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.706C>T r.(?) p.(Pro236Ser) - pathogenic g.24709980G>A g.24240774G>A - - TINF2_000002 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.723T>A r.(?) p.(Pro241=) - likely benign g.24709963A>T g.24240757A>T TINF2(NM_012461.2):c.723T>A (p.P241=) - GMPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.734C>A r.(?) p.(Ser245Tyr) - pathogenic g.24709952G>T g.24240746G>T - - TINF2_000003 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
?/. - c.734C>A r.(?) p.(Ser245Tyr) - VUS g.24709952G>T g.24240746G>T TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3):c.734C>A (p.S245Y) - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.734C>A r.(?) p.(Ser245Tyr) - likely benign g.24709952G>T g.24240746G>T TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3):c.734C>A (p.S245Y) - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.771C>T r.(?) p.(His257=) - likely benign g.24709915G>A g.24240709G>A TINF2(NM_012461.2):c.771C>T (p.H257=) - TINF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.805C>T r.(?) p.(Gln269*) - pathogenic g.24709881G>A g.24240675G>A - - TINF2_000005 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.805C>T r.(?) p.(Gln269*) - pathogenic g.24709881G>A g.24240675G>A - - TINF2_000005 data copied from the Telomerase database PubMed: Sasa 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.811C>T r.(?) p.(Gln271*) - pathogenic g.24709875G>A g.24240669G>A - - TINF2_000004 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.819C>T r.(?) p.(Ala273=) - likely benign g.24709867G>A g.24240661G>A TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=) - GMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.819C>T r.(?) p.(Ala273=) - likely benign g.24709867G>A g.24240661G>A TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=) - GMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 c.826del r.(?) p.(Arg276Glyfs*41) - pathogenic g.24709860del g.24240654del - - TINF2_000006 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.838A>G r.(?) p.(Lys280Glu) - pathogenic g.24709848T>C g.24240642T>C - - TINF2_000008 data copied from the Telomerase database PubMed: Savage 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.838A>T r.(?) p.(Lys280*) - pathogenic g.24709848T>A g.24240642T>A - - TINF2_000007 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.839del r.(?) p.(Lys280ArgfsTer37) - pathogenic g.24709848del g.24240642del - - TINF2_000009 data copied from the Telomerase database PubMed: Sasa 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.841G>A r.(?) p.(Glu281Lys) - pathogenic g.24709845C>T g.24240639C>T - - TINF2_000010 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.844C>A r.(?) p.(Arg282Ser) - pathogenic g.24709842G>T g.24240636G>T - - TINF2_000011 data copied from the Telomerase database PubMed: Savage 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.844C>T r.(?) p.(Arg282Cys) - pathogenic g.24709842G>A g.24240636G>A - - TINF2_000012 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.844C>T r.(?) p.(Arg282Cys) - likely pathogenic (recessive) g.24709842G>A g.24240636G>A - - TINF2_000012 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 6 c.845G>A r.(?) p.(Arg282His) - pathogenic g.24709841C>T g.24240635C>T - - TINF2_000013 data copied from the Telomerase database PubMed: Savage 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.845G>A r.(?) p.(Arg282His) - pathogenic g.24709841C>T g.24240635C>T - - TINF2_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918544 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+?/. - c.845G>A r.(?) p.(Arg282His) - likely pathogenic (recessive) g.24709841C>T g.24240635C>T - - TINF2_000013 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 6 c.847C>G r.(?) p.(Pro283Ala) - pathogenic g.24709839G>C g.24240633G>C - - TINF2_000015 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.847C>T r.(?) p.(Pro283Ser) - pathogenic g.24709839G>A g.24240633G>A - - TINF2_000014 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Pro283Ser) - likely pathogenic (recessive) g.24709839G>A g.24240633G>A - - TINF2_000014 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 6 c.848C>A r.(?) p.(Pro283His) - pathogenic g.24709838G>T g.24240632G>T - - TINF2_000016 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.849del r.(?) p.(Thr284Glnfs*33) - pathogenic g.24709840del g.24240634del - - TINF2_000017 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.849dup r.(?) p.(Thr284Hisfs*8) - pathogenic g.24709840dup g.24240634dup - - TINF2_000018 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.850A>G r.(?) p.(Thr284Ala) - pathogenic g.24709836T>C g.24240630T>C - - TINF2_000019 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.851C>A r.(?) p.(Thr284Lys) - pathogenic g.24709835G>T g.24240629G>T - - TINF2_000020 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.851C>G r.(?) p.(Thr284Arg) - pathogenic g.24709835G>C g.24240629G>C - - TINF2_000021 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.857delinsGC r.(?) p.(Met286Serfs*5) - pathogenic g.24709829delinsGC g.24240623delinsGC 857delTinsGC - TINF2_000022 data copied from the Telomerase database PubMed: Vulliamy 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.858G>C r.(?) p.(Met286Ile) - VUS g.24709828C>G g.24240622C>G TINF2(NM_012461.3):c.858G>C (p.M286I) - GMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 6 c.860T>C r.(?) p.(Leu287Pro) - pathogenic g.24709826A>G g.24240620A>G - - TINF2_000023 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.860T>C r.(?) p.(Leu287Pro) - likely pathogenic (recessive) g.24709826A>G g.24240620A>G - - TINF2_000023 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 6 c.865_866delinsAG r.(?) p.(Pro289Ser) - pathogenic g.24709820_24709821delinsCT g.24240614_24240615delinsCT - - TINF2_000024 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.867dup r.(?) p.(Phe290Leufs*2) - pathogenic g.24709821dup g.24240615dup - - TINF2_000025 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.871A>G r.(?) p.(Arg291Gly) - pathogenic g.24709815T>C g.24240609T>C - - TINF2_000026 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.892del r.(?) p.(Gln298Argfs*19) - pathogenic g.24709796del g.24240590del - - TINF2_000027 data copied from the Telomerase database PubMed: Walne 2008 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.913A>G r.(?) p.(Ser305Gly) - likely benign g.24709773T>C g.24240567T>C TINF2(NM_012461.2):c.913A>G (p.S305G) - TINF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1092G>A r.(?) p.(Leu364=) - likely benign g.24709506C>T g.24240300C>T TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(=)) - TINF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1092G>A r.(?) p.(Leu364=) - likely benign g.24709506C>T g.24240300C>T TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(=)) - TINF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1166T>C r.(?) p.(Ile389Thr) - VUS g.24709325A>G g.24240119A>G TINF2(NM_001099274.1):c.1166T>C (p.I389T) - GMPR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1166T>C r.(?) p.(Ile389Thr) - likely benign g.24709325A>G g.24240119A>G - - GMPR2_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs192423622 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1216G>A r.(?) p.(Gly406Arg) - VUS g.24709275C>T g.24240069C>T TINF2(NM_001099274.1):c.1216G>A (p.G406R) - GMPR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1284C>T r.(?) p.(Tyr428=) - likely benign g.24709075G>A g.24239869G>A TINF2(NM_001099274.1):c.1284C>T (p.Y428=) - TINF2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1300C>T r.(?) p.(His434Tyr) - likely benign g.24709059G>A g.24239853G>A TINF2(NM_001099274.1):c.1300C>T (p.H434Y) - GMPR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1302C>T r.(?) p.(His434=) - likely benign g.24709057G>A g.24239851G>A TINF2(NM_001099274.3):c.1302C>T (p.H434=) - GMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1309A>G r.(?) p.(Ile437Val) - likely benign g.24709050T>C g.24239844T>C TINF2(NM_001099274.1):c.1309A>G (p.I437V) - GMPR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1312C>G r.(?) p.(Pro438Ala) - likely benign g.24709047G>C g.24239841G>C TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala)) - TINF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1312C>G r.(?) p.(Pro438Ala) - VUS g.24709047G>C g.24239841G>C TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala)) - TINF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3680G>A r.(=) p.(=) - likely benign g.24705323C>T g.24236117C>T GMPR2(NM_001002000.2):c.442C>T (p.(Arg148Cys)) - GMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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