All variants in the MED14 gene

Information The variants shown are described using the NM_004229.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

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.-250T>C r.(?) p.(=) - likely benign g.40594914A>G g.40735662A>G MED14OS(NM_001289773.1):c.214A>G (p.R72G) - MED14_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-56G>C r.(?) p.(=) - VUS g.40594720C>G - MED14OS(NM_001289773.1):c.20C>G (p.P7R) - MED14_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.23A>G r.(?) p.(Asn8Ser) - likely benign g.40594642T>C g.40735390T>C MED14(NM_004229.3):c.23A>G (p.N8S) - MED14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.216-9dup r.(?) p.(=) - likely benign g.40588617dup g.40729365dup 40588605G>GA - MED14_000020 - PubMed: Korvatska 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.216-8del r.(=) p.(=) - VUS g.40588605del g.40729353del - - MED14_000018 - - - - Germline - - - - - Yu Sun
-?/. - c.216-5C>G r.spl? p.? - likely benign g.40588602G>C g.40729350G>C MED14(NM_004229.3):c.216-5C>G (p.?) - MED14_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.216-5C>T r.spl? p.? - likely benign g.40588602G>A g.40729350G>A MED14(NM_004229.3):c.216-5C>T (p.?) - MED14_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.763G>C r.(?) p.(Glu255Gln) - VUS g.40572184C>G g.40712932C>G MED14(NM_004229.3):c.763G>C (p.E255Q) - MED14_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1413C>T r.(?) p.(Asp471=) - likely benign g.40560494G>A - MED14(NM_004229.3):c.1413C>T (p.D471=) - MED14_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1651-108del r.(=) p.(=) - VUS g.40552263del g.40693011del - - MED14_000017 - - - - Germline - - - - - Yu Sun
?/. - c.1732C>T r.(?) p.(Arg578Cys) - VUS g.40552073G>A g.40692821G>A MED14(NM_004229.3):c.1732C>T (p.(Arg578Cys)) - MED14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1798T>C r.(?) p.(Phe600Leu) - likely benign g.40552007A>G g.40692755A>G MED14(NM_004229.3):c.1798T>C (p.F600L) - MED14_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1825A>G r.(?) p.(Arg609Gly) - VUS g.40551980T>C g.40692728T>C MED14(NM_004229.3):c.1825A>G (p.R609G, p.(Arg609Gly)) - MED14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1825A>G r.(?) p.(Arg609Gly) - likely benign g.40551980T>C g.40692728T>C MED14(NM_004229.3):c.1825A>G (p.R609G, p.(Arg609Gly)) - MED14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1829C>T r.(?) p.(Thr610Ile) - VUS g.40551976G>A g.40692724G>A MED14(NM_004229.3):c.1829C>T (p.(Thr610Ile)) - MED14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1840C>T r.(?) p.(Arg614Cys) - VUS g.40551965G>A g.40692713G>A MED14(NM_004229.3):c.1840C>T (p.(Arg614Cys)) - MED14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1846-31dup r.(=) p.(=) - VUS g.40551615dup g.40692363dup - - MED14_000016 - - - - Germline - - - - - Yu Sun
?/. - c.1973G>A r.(?) p.(Arg658Gln) - VUS g.40551442C>T g.40692190C>T MED14(NM_004229.3):c.1973G>A (p.R658Q) - MED14_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2094A>G r.(=) p.(=) - VUS g.40542212T>C g.40682960T>C Q698Q - MED14_000036 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. - c.2198G>A r.(?) p.(Gly733Asp) - VUS g.40542108C>T g.40682856C>T MED14(NM_004229.3):c.2198G>A (p.(Gly733Asp)) - MED14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2232C>T r.(?) p.(His744=) - likely benign g.40541988G>A - MED14(NM_004229.3):c.2232C>T (p.H744=) - MED14_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2288T>C r.(?) p.(Val763Ala) - VUS g.40541932A>G g.40682680A>G MED14(NM_004229.3):c.2288T>C (p.V763A) - MED14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2478G>A r.(?) p.(Ser826=) - likely benign g.40540142C>T - MED14(NM_004229.3):c.2478G>A (p.S826=) - MED14_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2730G>A r.(?) p.(Ser910=) - likely benign g.40539266C>T g.40680014C>T MED14(NM_004229.3):c.2730G>A (p.S910=) - MED14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2860T>C r.(?) p.(Tyr954His) - VUS g.40539136A>G g.40679884A>G Y954H - MED14_000021 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. - c.3448+194C>G r.(=) p.(=) - VUS g.40523365G>C g.40664113G>C - - MED14_000013 - - - - Germline - - - - - Yu Sun
?/. - c.3448+194C>G r.(=) p.(=) - VUS g.40523365G>C g.40664113G>C - - MED14_000013 - - - - Germline - - - - - Yu Sun
?/. - c.3449-273_3449-272insC r.(=) p.(=) - VUS g.40522684_40522685insG g.40663432_40663433insG - - MED14_000019 - - - - Germline - - - - - Yu Sun
?/. - c.3449-273_3449-272insC r.(=) p.(=) - VUS g.40522684_40522685insG g.40663432_40663433insG - - MED14_000019 - - - - Germline - - - - - Yu Sun
?/. - c.3684+351C>A r.(=) p.(=) - VUS g.40521826G>T g.40662574G>T - - MED14_000011 - - - - Germline - - - - - Yu Sun
?/. - c.3684+351C>A r.(=) p.(=) - VUS g.40521826G>T g.40662574G>T - - MED14_000011 - - - - Germline - - - - - Yu Sun
?/. - c.3684+358G>A r.(=) p.(=) - VUS g.40521819C>T g.40662567C>T - - MED14_000009 - - - - Germline - - - - - Yu Sun
?/. - c.3684+358G>A r.(=) p.(=) - VUS g.40521819C>T g.40662567C>T - - MED14_000009 - - - - Germline - - - - - Yu Sun
?/. - c.3973-10C>T r.(=) p.(=) - VUS g.40514322G>A g.40655070G>A - - MED14_000006 - - - - Germline - - - - - Yu Sun
?/. - c.3973-10C>T r.(=) p.(=) - VUS g.40514322G>A g.40655070G>A - - MED14_000006 - - - - Germline - - - - - Yu Sun
?/. - c.4041G>A r.(=) p.(=) - VUS g.40514244C>T g.40654992C>T P1347P - MED14_000035 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.4309G>C r.(?) p.(Ala1437Pro) - likely benign g.40511114C>G g.40651862C>G MED14(NM_004229.3):c.4309G>C (p.(Ala1437Pro)) - MED14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*285T>C r.(=) p.(=) - VUS g.40510773A>G g.40651521A>G - - MED14_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*285T>C r.(=) p.(=) - VUS g.40510773A>G g.40651521A>G - - MED14_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*4361T>G r.(=) p.(=) - VUS g.40506697A>C g.40647445A>C CXorf38(NM_144970.2):c.76T>G (p.L26V) - CXorf38_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4731A>G r.(=) p.(=) - VUS g.40506327T>C - CXorf38(NM_144970.2):c.283A>G (p.N95D) - MED14_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query