Unique variants in the THOC2 gene

Information The variants shown are described using the NM_001081550.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Reported     

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     
?/. 1 - c.270A>G r.(?) p.(Ile90Met) - VUS g.122837308T>C g.123703458T>C THOC2(NM_001081550.1):c.270A>G (p.(Ile90Met)) - THOC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.647A>G r.(?) p.(Glu216Gly) - likely benign g.122820519T>C g.123686669T>C - - THOC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.699A>C r.(?) p.(Glu233Asp) - likely benign g.122820467T>G g.123686617T>G - - THOC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.809C>G r.(?) p.(Ala270Gly) - VUS g.122805572G>C g.123671721G>C THOC2(NM_001081550.1):c.809C>G (p.A270G) - THOC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.813A>G r.(?) p.(Ala271=) - VUS g.122805568T>C - THOC2(NM_001081550.1):c.813A>G (p.A271=) - THOC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.822A>G r.(?) p.(Leu274=) - likely benign g.122805559T>C - THOC2(NM_001081550.1):c.822A>G (p.L274=) - THOC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.858A>T r.(?) p.(Val286=) - likely benign g.122805523T>A - THOC2(NM_001081550.1):c.858A>T (p.V286=) - THOC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.861+99G>T r.(=) p.(=) - VUS g.122805421C>A g.123671570C>A - - THOC2_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.869C>T r.(?) p.(Pro290Leu) - VUS g.122802158G>A - - - THOC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1021C>T r.(?) p.(Pro341Ser) - likely benign g.122801126G>A - THOC2(NM_001081550.1):c.1021C>T (p.(Pro341Ser)) - THOC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 2 - c.1261G>A r.(?) p.(Ala421Thr) - benign, VUS g.122799618C>T g.123665767C>T THOC2(NM_001081550.1):c.1261G>A (p.A421T, p.(Ala421Thr)) - THOC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1291G>A r.(?) p.(Val431Met) - VUS g.122799588C>T - THOC2(NM_001081550.1):c.1291G>A (p.V431M) - THOC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1332C>T r.(?) p.(His444=) - likely benign g.122799547G>A - THOC2(NM_001081550.1):c.1332C>T (p.H444=) - THOC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1454G>A r.(?) p.(Ser485Asn) - likely benign g.122778735C>T g.123644884C>T THOC2(NM_001081550.1):c.1454G>A (p.S485N) - THOC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1564C>T r.(?) p.(Arg522Cys) - VUS g.122778523G>A - THOC2(NM_001081550.2):c.1564C>T (p.R522C) - THOC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1635A>G r.(?) p.(Thr545=) - likely benign g.122778452T>C - THOC2(NM_001081550.1):c.1635A>G (p.T545=) - THOC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1662-5C>T r.spl? p.? - likely benign g.122774478G>A - THOC2(NM_001081550.2):c.1662-5C>T - THOC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1840+163_1840+164del r.(=) p.(=) - VUS g.122772646_122772647del g.123638795_123638796del - - THOC2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1840+205_1840+206del r.(=) p.(=) - VUS g.122772601_122772602del g.123638750_123638751del - - THOC2_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1881A>C r.(?) p.(Arg627Ser) - VUS g.122771934T>G g.123638083T>G - - THOC2_000008 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1957T>C r.(?) p.(Tyr653His) ACMG VUS g.122769991A>G g.123636140A>G - - THOC2_000026 ACMG: PM2,PP3 - - - Germline - - - - - Andreas Laner
-?/. 1 - c.2217C>T r.(?) p.(Ala739=) - likely benign g.122766811G>A g.123632960G>A THOC2(NM_001081550.1):c.2217C>T (p.A739=) - THOC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2307C>G r.(?) p.(Leu769=) - likely benign g.122766721G>C - THOC2(NM_001081550.1):c.2307C>G (p.L769=) - THOC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2355A>G r.(?) p.(Ala785=) - likely benign g.122765665T>C g.123631814T>C THOC2(NM_001081550.1):c.2355A>G (p.A785=) - THOC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2582A>G r.(?) p.(His861Arg) - VUS g.122761719T>C g.123627868T>C THOC2(NM_001081550.1):c.2582A>G (p.H861R) - THOC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2642A>G r.(?) p.(Tyr881Cys) - likely pathogenic g.122761659T>C g.123627808T>C THOC2(NM_001081550.1):c.2642A>G (p.Y881C) - THOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2747A>G r.(?) p.(Asn916Ser) - VUS g.122761554T>C - THOC2(NM_001081550.2):c.2747A>G (p.N916S) - THOC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2983T>C r.(?) p.(Tyr995His) ACMG VUS (!) g.122759837A>G - - - THOC2_000035 ACMG: PM1, PM2_SUP, PP2, PP3 - - - Germline ? - - - - Andreas Laner
-/. 1 - c.3058-9C>T r.(=) p.(=) - benign g.122758529G>A g.123624678G>A THOC2(NM_001081550.2):c.3058-9C>T - THOC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3058-6C>A r.(=) p.(=) - likely benign g.122758526G>T g.123624675G>T THOC2(NM_001081550.1):c.3058-6C>A - THOC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3142G>C r.(?) p.(Glu1048Gln) - VUS g.122758436C>G g.123624585C>G THOC2(NM_001081550.1):c.3142G>C (p.E1048Q) - THOC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3186+4T>G r.spl? p.? - likely benign g.122758388A>C - THOC2(NM_001081550.1):c.3186+4T>G - THOC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3504-7C>T r.(=) p.(=) - likely benign g.122757141G>A g.123623290G>A THOC2(NM_001081550.1):c.3504-7C>T - THOC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3683A>T r.(?) p.(Asp1228Val) - VUS g.122756711T>A - THOC2(NM_001081550.2):c.3683A>T (p.D1228V) - THOC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.4017T>C r.(?) p.(Asp1339=) - likely benign g.122755207A>G g.123621356A>G THOC2(NM_001081550.1):c.4017T>C (p.D1339=) - THOC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4239T>C r.(?) p.(Asp1413=) - likely benign g.122754794A>G - THOC2(NM_001081550.1):c.4239T>C (p.D1413=) - THOC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4459A>G r.(?) p.(Asn1487Asp) - VUS g.122747550T>C g.123613699T>C THOC2(NM_001081550.1):c.4459A>G (p.(Asn1487Asp)) - THOC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*19-1740dup r.(=) p.(=) - VUS g.122736941dup g.123603090dup - - THOC2_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*19-1739del r.(=) p.(=) - VUS g.122736928del g.123603077del - - THOC2_000007 - - - - Germline - - - - - Yu Sun
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