Full data view for gene TMEM240

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

41 entries on 1 page. Showing entries 1 - 41.
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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.120dup r.(?) p.(His41AlafsTer192) Unknown - likely pathogenic g.1475108dup g.1539728dup TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192) - SSU72_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>G r.(?) p.(Gly44=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>T r.(?) p.(Arg47=) Unknown - likely benign g.1475087G>A g.1539707G>A TMEM240(NM_001114748.2):c.141C>T (p.R47=) - SSU72_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196G>A r.(?) p.(Gly66Arg) Unknown - VUS g.1471146C>T g.1535766C>T - - TMEM240_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Thr80Met) Unknown - VUS g.1471103G>A g.1535723G>A TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>T r.(?) p.(Thr80Met) Unknown - likely benign g.1471103G>A g.1535723G>A TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Thr80Met) Unknown - VUS g.1471103G>A - TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Thr80Met) Unknown - VUS g.1471103G>A - TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(Ile88=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281T>A r.(?) p.(Leu94Gln) Unknown - VUS g.1471061A>T g.1535681A>T - - ATAD3A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327C>T r.(?) p.(Gly109=) Unknown - likely benign g.1471015G>A - TMEM240(NM_001114748.1):c.327C>T (p.G109=) - ATAD3A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389G>A r.(?) p.(Trp130Ter) Unknown - VUS g.1470872C>T g.1535492C>T TMEM240(NM_001114748.2):c.389G>A (p.W130*) - ATAD3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389G>A r.(?) p.(Trp130Ter) Unknown - VUS g.1470872C>T - TMEM240(NM_001114748.2):c.389G>A (p.W130*) - ATAD3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - likely benign g.1470837G>A - TMEM240(NM_001114748.2):c.424C>T (p.R142W) - ATAD3A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>A r.(?) p.(Pro144=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450G>A r.(?) p.(Glu150=) Unknown - likely benign g.1470811C>T - TMEM240(NM_001114748.1):c.450G>A (p.E150=) - ATAD3A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(Ala151=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454G>A r.(?) p.(Ala152Thr) Unknown - likely benign g.1470807C>T - TMEM240(NM_001114748.1):c.454G>A (p.(Ala152Thr)) - ATAD3A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481A>C r.(?) p.(Lys161Gln) Paternal (confirmed) - VUS g.1470780T>G - - - TMEM240_000007 - PubMed: Hijazi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Hijazi 2022 - M no - white;Europe - - - - 1 Johan den Dunnen
+?/. 4 c.489C>G r.(?) p.(Tyr163*) Unknown ACMG likely pathogenic g.1470772G>C g.1535392G>C - - TMEM240_000008 - - ClinVar-161193 rs606231452 De novo - - - - - DNA SEQ-NG-I peripheral blood WES ataxia - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-/. - c.492C>T r.(?) p.(His164=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.509C>T r.(?) p.(Pro170Leu) Unknown - pathogenic g.1470752G>A g.1535372G>A TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L) - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509C>T r.(?) p.(Pro170Leu) Unknown - likely pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+?/. - c.509C>T r.(?) p.(Pro170Leu) Unknown ACMG likely pathogenic (dominant) g.1470752G>A - - - TMEM240_000005 ACMG: PS4, PM1, PM2_SUP, PP1 PMID: 25070513; PMID: 11160961 VCV000161192.9 - Germline ? - - - - DNA SEQ-NG-I - - SCA21 178612 - - M ? Germany - - - - - 1 Andreas Laner
+/. - c.509C>T r.(?) p.(Pro170Leu) Unknown - pathogenic g.1470752G>A - TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L) - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.509C>T r.(?) p.(Pro170Leu) Unknown - pathogenic g.1470752G>A - TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L) - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1238G>A r.(=) p.(=) Unknown - likely benign g.1469501C>T - ATAD3A(NM_001170535.3):c.*49C>T - ATAD3A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1327G>A r.(=) p.(=) Unknown - likely benign g.1469412C>T - ATAD3A(NM_018188.4):c.1865C>T (p.A622V) - ATAD3A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1327G>C r.(=) p.(=) Unknown - VUS g.1469412C>G - ATAD3A(NM_001170535.3):c.1721C>G (p.(Ala574Gly)) - ATAD3A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1345T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1346_*1348del r.(=) p.(=) Unknown - VUS g.1469394_1469396del - ATAD3A(NM_001170535.3):c.1703_1705delAGA (p.K568del) - ATAD3A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1351T>C r.(=) p.(=) Unknown - VUS g.1469388A>G - ATAD3A(NM_001170535.3):c.1697A>G (p.(Gln566Arg)) - ATAD3A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1355G>A r.(=) p.(=) Unknown - VUS g.1469384C>T - ATAD3A(NM_001170535.3):c.1693C>T (p.(His565Tyr)) - ATAD3A_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1378C>T r.(=) p.(=) Unknown - VUS g.1469361G>A - ATAD3A(NM_001170535.3):c.1670G>A (p.(Arg557His)) - ATAD3A_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1398G>A r.(=) p.(=) Unknown - likely benign g.1469341C>T - ATAD3A(NM_001170535.3):c.1650C>T (p.T550=) - ATAD3A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1409C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1415C>T r.(=) p.(=) Unknown - VUS g.1469324G>A g.1533944G>A ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1415C>T r.(=) p.(=) Unknown - VUS g.1469324G>A - ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1415C>T r.(=) p.(=) Unknown - VUS g.1469324G>A - ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1437G>C r.(=) p.(=) Unknown - VUS g.1469302C>G g.1533922C>G ATAD3A(NM_018188.5):c.1759-4C>G - ATAD3A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1450C>G r.(=) p.(=) Unknown - benign g.1469289G>C - ATAD3A(NM_001170535.3):c.1615-17G>C - ATAD3A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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