All variants in the TMCO1 gene

Information The variants shown are described using the NM_019026.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.34G>A r.(?) p.(Val12Ile) - likely benign g.165738108C>T - TMCO1(NM_001256164.1):c.34G>A (p.(Val12Ile)) - TMCO1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.59G>A r.(?) p.(Gly20Asp) - VUS g.165738083C>T - TMCO1(NM_001256164.1):c.59G>A (p.(Gly20Asp)) - TMCO1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.64G>A r.(?) p.(Gly22Arg) - likely benign g.165738078C>T - TMCO1(NM_001256164.1):c.64G>A (p.(Gly22Arg)) - TMCO1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.78C>G r.(?) p.(Ser26Arg) - likely benign g.165738064G>C g.165768827G>C TMCO1(NM_001256164.1):c.78C>G (p.(Ser26Arg)) - TMCO1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.224-198G>C r.(=) p.(=) - benign g.165737704C>G g.165768467C>G TMCO1(NM_001256165.1):c.34+15G>C - TMCO1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.292_293del r.(?) p.(Ser98*) - pathogenic g.165737439_165737440del - TMCO1(NM_019026.6):c.139_140del (p.(Ser47fs)), TMCO1(NM_019026.6):c.139_140delAG (p.S47*) - TMCO1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.292_293del r.(?) p.(Ser98*) - pathogenic g.165737439_165737440del - TMCO1(NM_019026.6):c.139_140del (p.(Ser47fs)), TMCO1(NM_019026.6):c.139_140delAG (p.S47*) - TMCO1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 3 c.340C>T r.(340c>u) p.(Arg114*) other pathogenic (recessive) g.165728783G>A g.165759546G>A NM_019026.6:c.187C>T (Arg63*) - TMCO1_000019 - PubMed: Abdelrazek 2023 - - Germline yes - - - - Tess Holling
+?/. 3 c.340C>T r.(340c>u) p.(Arg114*) other pathogenic (recessive) g.165728783G>A g.165759546G>A NM_019026.6:c.187C>T (Arg63*) - TMCO1_000019 - PubMed: Abdelrazek 2023 - - Germline yes - - - - Tess Holling
?/? 5_5i c.476+3C>G r.spl? p.? - pathogenic g.165721336G>C g.165752099G>C NM_019026.3:c.323+3C>G - TMCO1_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline yes - - - - Davut Pehlivan
-/. - c.477-8del r.(=) p.(=) - benign g.165712570del g.165743333del TMCO1(NM_001256165.1):c.288-8delT, TMCO1(NM_019026.6):c.324-8del - TMCO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.477-8del r.(=) p.(=) - benign g.165712570del g.165743333del TMCO1(NM_001256165.1):c.288-8delT, TMCO1(NM_019026.6):c.324-8del - TMCO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.477-8del r.(=) p.(=) - likely benign g.165712570del g.165743333del TMCO1(NM_001256165.1):c.288-8delT, TMCO1(NM_019026.6):c.324-8del - TMCO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.477-8del r.(=) p.(=) - benign g.165712570del - TMCO1(NM_001256165.1):c.288-8delT, TMCO1(NM_019026.6):c.324-8del - TMCO1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.477-8dup r.(=) p.(=) - likely benign g.165712570dup g.165743333dup TMCO1(NM_001256165.1):c.288-8dupT - TMCO1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.477-7C>T r.(=) p.(=) - likely benign g.165712555G>A g.165743318G>A TMCO1(NM_001256164.1):c.375-7delinsT (p.(=)), TMCO1(NM_001256165.1):c.288-7C>T - TMCO1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.477-7C>T r.(=) p.(=) - likely benign g.165712555G>A g.165743318G>A TMCO1(NM_001256164.1):c.375-7delinsT (p.(=)), TMCO1(NM_001256165.1):c.288-7C>T - TMCO1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.477-2A>T r.spl? p.? - VUS g.165712550T>A g.165743313T>A TMCO1(NM_001256164.1):c.375-2A>T (p.?) - TMCO1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.477-1G>T r.spl? p.? - VUS g.165712549C>A g.165743312C>A TMCO1(NM_001256164.1):c.375-1G>T (p.?) - TMCO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.477A>T r.(?) p.(Ile159=) - VUS g.165712548T>A g.165743311T>A TMCO1(NM_001256164.1):c.375A>T (p.(=)) - TMCO1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.481G>T r.(?) p.(Asp161Tyr) - VUS g.165712544C>A g.165743307C>A TMCO1(NM_001256164.1):c.379G>T (p.(Asp127Tyr)) - TMCO1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.482A>T r.(?) p.(Asp161Val) - likely benign g.165712543T>A g.165743306T>A TMCO1(NM_001256164.1):c.380A>T (p.(Asp127Val)) - TMCO1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.616C>T r.(?) p.(Arg206*) - pathogenic g.165712409G>A - TMCO1(NM_001256165.1):c.427C>T (p.R143*), TMCO1(NM_019026.6):c.463C>T (p.(Arg155*)) - TMCO1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.616C>T r.(?) p.(Arg206*) - pathogenic g.165712409G>A - TMCO1(NM_001256165.1):c.427C>T (p.R143*), TMCO1(NM_019026.6):c.463C>T (p.(Arg155*)) - TMCO1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.639C>T r.(?) p.(Leu213=) - likely benign g.165697341G>A - TMCO1(NM_001256164.1):c.537C>T (p.(Leu179=)) - TMCO1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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