Unique variants in gene TMEM240

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.120dup likely pathogenic r.(?) p.(His41Alafs*192) g.1475108dup - TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192) - SSU72_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.132C>G likely benign r.(?) p.(=) g.1475096G>C - TMEM240(NM_001114748.1):c.132C>G (p.G44=) - TMEM240_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.141C>T likely benign r.(?) p.(=) g.1475087G>A - TMEM240(NM_001114748.1):c.141C>T (p.R47=) - SSU72_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.196G>A VUS r.(?) p.(Gly66Arg) g.1471146C>T - - - TMEM240_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -?/. 2 - c.239C>T VUS, likely benign r.(?) p.(Thr80Met) g.1471103G>A - TMEM240(NM_001114748.1):c.239C>T (p.T80M) - ATAD3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.264C>T likely benign r.(?) p.(=) g.1471078G>A - TMEM240(NM_001114748.1):c.264C>T (p.I88=) - ATAD3A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.281T>A VUS r.(?) p.(Leu94Gln) g.1471061A>T - - - ATAD3A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.389G>A VUS r.(?) p.(Trp130*) g.1470872C>T - - - ATAD3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.432G>A likely benign r.(?) p.(=) g.1470829C>T - TMEM240(NM_001114748.1):c.432G>A (p.P144=) - TMEM240_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.453C>T likely benign r.(?) p.(=) g.1470808G>A - TMEM240(NM_001114748.1):c.453C>T (p.A151=) - ATAD3A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.492C>T benign r.(?) p.(=) g.1470769G>A - TMEM240(NM_001114748.1):c.492C>T (p.H164=) - TMEM240_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.509C>T pathogenic, likely pathogenic r.(?) p.(Pro170Leu) g.1470752G>A - - - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, IMGAG
?/. 1 - c.*1345T>A VUS r.(=) p.(=) g.1469394A>T - ATAD3A(NM_018188.4):c.1847A>T (p.K616M) - ATAD3A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1409C>T VUS r.(=) p.(=) g.1469330G>A - ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg)) - ATAD3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1415C>T VUS r.(=) p.(=) g.1469324G>A - ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)) - ATAD3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1437G>C VUS r.(=) p.(=) g.1469302C>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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