All variants in the TMEM240 gene

Information The variants shown are described using the NM_001114748.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.120dup r.(?) p.(His41AlafsTer192) - likely pathogenic g.1475108dup g.1539728dup TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192) - SSU72_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.132C>G r.(?) p.(Gly44=) - likely benign g.1475096G>C g.1539716G>C TMEM240(NM_001114748.1):c.132C>G (p.G44=) - TMEM240_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.132C>G r.(?) p.(Gly44=) - likely benign g.1475096G>C g.1539716G>C TMEM240(NM_001114748.1):c.132C>G (p.G44=) - TMEM240_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.141C>T r.(?) p.(Arg47=) - likely benign g.1475087G>A g.1539707G>A TMEM240(NM_001114748.1):c.141C>T (p.R47=) - SSU72_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.196G>A r.(?) p.(Gly66Arg) - VUS g.1471146C>T g.1535766C>T - - TMEM240_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.239C>T r.(?) p.(Thr80Met) - VUS g.1471103G>A g.1535723G>A TMEM240(NM_001114748.1):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.239C>T r.(?) p.(Thr80Met) - likely benign g.1471103G>A g.1535723G>A TMEM240(NM_001114748.1):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.264C>T r.(?) p.(Ile88=) - likely benign g.1471078G>A g.1535698G>A TMEM240(NM_001114748.1):c.264C>T (p.I88=) - ATAD3A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.281T>A r.(?) p.(Leu94Gln) - VUS g.1471061A>T g.1535681A>T - - ATAD3A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.343G>C r.(?) p.(Val115Leu) - VUS g.1470999C>G - TMEM240(NM_001114748.1):c.343G>C (p.V115L) - ATAD3A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.389G>A r.(?) p.(Trp130Ter) - VUS g.1470872C>T g.1535492C>T - - ATAD3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.432G>A r.(?) p.(Pro144=) - likely benign g.1470829C>T g.1535449C>T TMEM240(NM_001114748.1):c.432G>A (p.P144=) - TMEM240_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.453C>T r.(?) p.(Ala151=) - likely benign g.1470808G>A g.1535428G>A TMEM240(NM_001114748.1):c.453C>T (p.A151=) - ATAD3A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.492C>T r.(?) p.(His164=) - benign g.1470769G>A g.1535389G>A TMEM240(NM_001114748.1):c.492C>T (p.H164=) - TMEM240_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.509C>T r.(?) p.(Pro170Leu) - pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.509C>T r.(?) p.(Pro170Leu) - likely pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 - - - - Unknown - - - 0 - IMGAG
?/. - c.*1345T>A r.(=) p.(=) - VUS g.1469394A>T g.1534014A>T ATAD3A(NM_018188.4):c.1847A>T (p.K616M) - ATAD3A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1409C>T r.(=) p.(=) - VUS g.1469330G>A g.1533950G>A ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg)) - ATAD3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*1415C>T r.(=) p.(=) - VUS g.1469324G>A g.1533944G>A ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*1415C>T r.(=) p.(=) - VUS g.1469324G>A - ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1437G>C r.(=) p.(=) - VUS g.1469302C>G g.1533922C>G ATAD3A(NM_018188.4):c.1759-4C>G - ATAD3A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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