Full data view for gene EFTUD2

Information The variants shown are described using the NM_004247.3 transcript reference sequence.

170 entries on 2 pages. Showing entries 1 - 100.
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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.-170573_*136621del r.0? p.0? Unknown - VUS g.42792021_43147305del g.44714653_45069937del - - DBF4B_000002 array 42792021–43147305x1 - - - Unknown - - - 0 - DNA arrayCNV - - MFDGA;MFDM - PubMed: Lines 2012 - F no ? (unknown) - - 0 - - 1 Johan den Dunnen
+/+ _1_3i c.(-21750_-20742)_(271+479_272-1)del r.0? p.0? Unknown - pathogenic g.(40318000_40319000)_(40353000_40354000)del - NCBI36 40319000_40353000del - EFTUD2_000012 ˜34 kb deletion PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - DNA arraySNP - - MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of VATER M ? France - - 0 - - 1 Dennis E. Bulman
+/+ _1_4i c.(-9700_-8742)_(350+150_351-400)del r.0? p.0? Unknown - pathogenic g.(40317000_40318000)_(40341000_40342000)del - NCBI36 chr17:40.319-40.353 Mbp del - EFTUD2_000011 >23 kb deletion PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - DNA arrayCGH - - MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis Goldenhar syndrome and oesophageal atresia F ? ? (unknown) - - 0 - - 1 Dennis E. Bulman
-/. - c.-3457C>T r.(?) p.(=) Unknown - benign g.42980189G>A g.44902821G>A CCDC103(NM_001258397.3):c.*483G>A - CCDC103_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3434T>C r.(?) p.(=) Unknown - likely benign g.42980166A>G g.44902798A>G CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly)) - CCDC103_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2938G>T r.(?) p.(=) Unknown - benign g.42979670C>A g.44902302C>A CCDC103(NM_001258397.3):c.277-16C>A - CCDC103_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1704C>T r.(?) p.(=) Unknown - likely benign g.42978436G>A g.44901068G>A CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys)) - EFTUD2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1669A>G r.(?) p.(=) Unknown - VUS g.42978401T>C g.44901033T>C CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser)) - CCDC103_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-497A>G r.(?) p.(=) Unknown - VUS g.42977229T>C g.44899861T>C CCDC103(NM_001258397.1):c.-10+2T>C (p.(=)) - EFTUD2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_28_ c.0 r.0 p.0 Unknown - pathogenic g.(42600000_42778736)_(4323333_43500000)del - - - EFTUD2_000000 probably de novo; deletion between 0.435 and 0.475 Mb PubMed: Gandoni 2015, Journal: Gandoni 2015 - - Unknown - - - 0 - DNA arrayCGH - - MFDGA;MFDM - PubMed: Gandoni 2015, Journal: Gandoni 2015 female dizygotic twin neonate F ? United States - - 0 - - 1 Dennis E. Bulman
+/+? 18 c.[1859A>T;1860+3_1860+4delinsGAG] r.1720_1860 p.Ala574_Lys620del Unknown - pathogenic g.[42937274T>A;42937269_42937270delinsCTC] - - - EFTUD2_000079 - PubMed: Smigiel et al. - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ - c.[427-2delA;427-7C>T] r.spl? p.? Maternal (confirmed) - pathogenic g.[42960528delT;42960532G>A] - - - EFTUD2_000056 - Huang et al. 2015 - - Germline yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.12del r.(?) p.Leu5Tyrfs*41 Unknown - pathogenic g.42971878del g.44894510del - - EFTUD2_000034 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.105G>A r.7_111del p.Thr3_Asp37del Unknown - pathogenic g.42971785C>T g.44894417C>T - - EFTUD2_000052 - Huang et al. 2015 - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.106-9T>C r.(=) p.(=) Unknown - likely benign g.42964127A>G - EFTUD2(NM_001258353.1):c.106-9T>C - EFTUD2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106-8G>C r.(=) p.(=) Unknown - likely benign g.42964126C>G - EFTUD2(NM_001258353.1):c.106-8G>C - EFTUD2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.106-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.42964120T>C g.44886752T>C - - EFTUD2_000053 - Huang et al. 2015 - - Germline yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 3 c.198C>G r.(?) p.(Tyr66*) Unknown - likely pathogenic g.42964026G>C g.44886658G>C - - EFTUD2_000031 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+/+ 3 c.208G>T r.(?) p.Glu70* Unknown - pathogenic g.42964016C>A g.44886648C>A - - EFTUD2_000054 - Huang et al. 2015 - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3i c.271+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.42963952C>T g.44886584C>T - - EFTUD2_000118 - - - - De novo - - - 0 - DNA SEQ-NG-I - - MFDGA;MFDM - - - M no Korea, South (Republic) - - 0 - - 1 So Young Kim
+/+ 4 c.272-9_282del r.272_350del p.Glu91Valfs*6 Unknown - pathogenic g.42962694_42962713del g.44885326_44885345del - - EFTUD2_000055 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.291_292insT r.(?) p.(Lys98Ter) Unknown - pathogenic g.42962682_42962683insA g.44885314_44885315insA - - EFTUD2_000119 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
+/. - c.334dup r.(?) p.(Thr112AsnfsTer4) Unknown - pathogenic g.42962640dup g.44885272dup - - EFTUD2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.350+1G>A r.spl? p.? Unknown - pathogenic g.42962623C>T g.44885255C>T - - EFTUD2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i4 c.351-1G>A r.spl? p.? Unknown - likely pathogenic g.42961093C>T g.44883725C>T = - EFTUD2_000029 - PubMed: Voigt et al. 2013 - - De novo - - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Voigt 2013 - F no (Germany) - - 0 - - 1 Dennis E. Bulman
+?/? 4i c.351-1G>C r.spl? p.? Unknown - likely pathogenic g.42961093C>G g.44883725C>G - - EFTUD2_000035 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+/. - c.380_381del r.(?) p.(Glu127AlafsTer24) Unknown - pathogenic g.42961064_42961065del g.44883696_44883697del - - EFTUD2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426+8G>A r.(=) p.(=) Unknown - benign g.42961009C>T g.44883641C>T EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A - EFTUD2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.426+8G>A r.(=) p.(=) Unknown - benign g.42961009C>T g.44883641C>T EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A - EFTUD2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.426+8G>A r.(=) p.(=) Unknown - benign g.42961009C>T g.44883641C>T EFTUD2(NM_001258353.2):c.426+8G>A, EFTUD2(NM_004247.3):c.426+8G>A - EFTUD2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.428C>T r.(?) p.(Thr143Ile) Unknown - likely pathogenic g.42960525G>A g.44883157G>A - - EFTUD2_000124 - Journal: Thomas 2020 - - De novo - - - 0 - DNA ? - - MFDGA;MFDM T143I Journal: Thomas 2020 male patient M ? - - - 0 - - 1 Huw Thomas
+/+ - c.492+1G>A r.spl? p.? Maternal (confirmed) - pathogenic g.42960460C>T g.44883092C>T - - EFTUD2_000057 - Huang et al. 2015 - - Germline yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 7 c.498C>A r.(?) p.(Cys166*) Unknown - likely pathogenic g.42959085G>T g.44881717G>T - - EFTUD2_000036 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+?/? 7i c.529-1G>A r.spl? p.? Unknown - likely pathogenic g.42958013C>T g.44880645C>T - - EFTUD2_000037 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+/+ 8 c.594T>G r.(?) p.(Tyr198*) Unknown - pathogenic g.42957947A>C g.44880579A>C = - EFTUD2_000027 - PubMed: Voigt et al. 2013 - - De novo - - - 0 - DNA SEQ-NG-I - - MFDGA;MFDM - PubMed: Voigt et al 2013 - M no (Germany) - - 0 - - 1 Dennis E. Bulman
+/+ 8 c.602dup r.(?) p.Asn201Lysfs*13 Unknown - pathogenic g.42957940dup g.44880572dup - - EFTUD2_000075 - PubMed: Vincent et al. - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 8i c.619+1G>A r.spl? p.? Unknown - likely pathogenic g.42957921C>T g.44880553C>T = - EFTUD2_000016 - PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - DNA SEQ - - CHARGE, MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE snydrome M ? France - - 0 - - 1 Dennis E. Bulman
+?/. 9 c.620G>A r.(?) p.(Gly207Glu) Unknown - likely pathogenic g.42957006C>T g.44879638C>T - - EFTUD2_000123 - Journal: Thomas 2020 - - De novo - - - 0 - DNA ? - - MFDGA;MFDM G207E Journal: Thomas 2020 - M no - European - 0 - - 1 Huw Thomas
+?/+? 9 c.623A>G r.(?) p.(His208Arg) Unknown - likely pathogenic g.42957003T>C g.44879635T>C = - EFTUD2_000017 - PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - DNA SEQ - - CHARGE, MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 1 Dennis E. Bulman
+?/+? 9 c.670G>A r.(?) p.(Gly224Arg) Unknown - likely pathogenic g.42956956C>T g.44879588C>T = - EFTUD2_000020 - PubMed: Gordon 2012, Journal: Gordon 2012 - - Unknown - - - 0 dbulman@cheo.on.ca DNA SEQ - - CHARGE, MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 1 Dennis E. Bulman
+/+ 9 c.698del r.(?) p.(Glu233Glyfs*3) Unknown - pathogenic g.42956928del g.44879560del - - EFTUD2_000033 - PubMed: Need et al. 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - MFDGA;MFDM - PubMed: Need 2012 - M ? - European-American - 0 - - 1 Dennis E. Bulman
+?/? 9i c.702+1del r.spl? p.? Unknown - likely pathogenic g.42956927del g.44879559del - - EFTUD2_000038 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+?/+? - c.702+5G>A r.(spl?) p.? Unknown - likely pathogenic g.42956919C>T g.44879551C>T - - EFTUD2_000058 - Huang et al. 2015 - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.702+5G>A r.(spl?) p.? Unknown - likely pathogenic g.42956919C>T g.44879551C>T - - EFTUD2_000058 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 9i c.702+5G>C r.spl? p.? Unknown - likely pathogenic g.42956919C>G g.44879551C>G - - EFTUD2_000039 - Lehalle et al 2014 - - De novo - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+?/? 10 c.745G>T r.(?) p.(Glu249*) Unknown - likely pathogenic g.42953426C>A g.44876058C>A - - EFTUD2_000040 - Lehalle et al 2014 - - De novo - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
?/. - c.758T>A r.(?) p.(Val253Asp) Unknown - VUS g.42953413A>T g.44876045A>T EFTUD2(NM_001258353.1):c.758T>A (p.V253D) - EFTUD2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.762T>C r.(?) p.(Thr254=) Unknown - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762T>C r.(?) p.(Thr254=) Unknown - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762T>C r.(?) p.(Thr254=) Unknown - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.784C>T r.(?) p.(Arg262Trp) Unknown - pathogenic g.42953387G>A g.44876019G>A = - EFTUD2_000003 - PubMed: Lines et al. 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - MFDGA;MFDM - PubMed: Lines 2012, PubMed: Wieczorek 2009 - M no ? (unknown) - - 0 - - 1 Dennis E. Bulman
+/+ 10 c.784C>T r.(?) p.Arg262Trp Unknown - pathogenic g.42953387G>A g.44876019G>A - - EFTUD2_000003 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 10 c.784C>T r.(?) p.Arg262Trp Unknown - pathogenic g.42953387G>A g.44876019G>A - - EFTUD2_000003 - PubMed: Smigiel et al. - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.784C>T r.(?) p.(Arg262Trp) Unknown - pathogenic g.42953387G>A g.44876019G>A EFTUD2(NM_001258353.1):c.784C>T (p.R262W) - EFTUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.784C>T r.(?) p.(Arg262Trp) Unknown - pathogenic g.42953387G>A - EFTUD2(NM_001258353.1):c.784C>T (p.R262W) - EFTUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.[784_787delCGGC;791_802dupTCCTGGAGCTGA] r.(?) p.(Arg262*) Unknown - pathogenic g.[42953384_42953387del;42953388_42953399dup] - c.784_787deldup788_799TGATCCTGGAGC - EFTUD2_000001 - PubMed: Lines et al. 2012 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - 1 Johan den Dunnen
+/. - c.793del r.(?) p.(Leu265TrpfsTer3) Unknown - pathogenic g.42953379del g.44876011del EFTUD2(NM_004247.3):c.793delC (p.L265Wfs*3) - EFTUD2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.857A>G r.spl p.(Asn286Ser) Unknown - likely pathogenic g.42953314T>C g.44875946T>C - - EFTUD2_000122 - Journal: Thomas 2020 - - De novo - - - 0 - DNA ? - - MFDGA;MFDM N286S Journal: Thomas 2020 - M - - - - 0 - - 1 Huw Thomas
+?/. - c.869+1G>A r.spl? p.? Unknown - likely pathogenic g.42953301C>T g.44875933C>T - - EFTUD2_000128 - - - - Unknown - - - 0 - DNA SEQ-NG - - MFDGA;MFDM 115 - - F - China - - 0 - - 1 Sha Hong
+?/. 11 c.876T>G r.(?) p.(Tyr292*) Unknown - likely pathogenic g.42949932A>C g.44872564A>C - - EFTUD2_000082 - - - - De novo - - - 0 - DNA SEQ-NG-I blood - MFDGA;MFDM - - - M no Czech Republic white - 0 - - 1 Jana Paderova
+/+ 11 c.933dup r.(?) p.Ser312Leufs*22 Unknown - pathogenic g.42949875dup g.44872507dup - - EFTUD2_000078 - PubMed: Sarkar et al. - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.984C>T r.(?) p.(Ala328=) Unknown - benign g.42949824G>A g.44872456G>A EFTUD2(NM_001258353.1):c.984C>T (p.A328=) - EFTUD2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? i11 c.994+1G>C r.spl? p.? Maternal (confirmed) - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Germline yes - - 0 - DNA SEQ-NG-I - - MFDGA;MFDM - PubMed: Voigt 2013; PubMed: Wieczorek 2013 - F no (Germany) - - 0 - - 1 Dennis E. Bulman
+?/+? i11 c.994+1G>C r.spl? p.? Maternal (confirmed) - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Germline yes - - 0 - DNA SEQ-NG-I - - MFDGA;MFDM - PubMed: Voigt et al 2013; PubMed: Wieczorek D et al 2007 brother of individual #00002602 M no (Germany) - - 0 - - 1 Dennis E. Bulman
+?/+? 11i c.994+1G>C r.spl? p.? Unknown - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Unknown ? - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Voigt 2013; PubMed: Wieczorek et al.2007 mother of individual #00002602 and #00002603 F no (Germany) - - 0 - - 1 Dennis E. Bulman
+?/? 11i c.994+5G>A r.(spl?) p.? Unknown - likely pathogenic g.42949809C>T g.44872441C>T - - EFTUD2_000032 - PubMed: Need et al. 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - MFDGA;MFDM - PubMed: Need 2012 - M ? India - - 0 - - 1 Dennis E. Bulman
+/. 11i_28_ c.994+5_*918117del r.? p.? Unknown - pathogenic g.42010525_42949809del g.43933157_44872441del - - EFTUD2_000074 - Huang et al. 2015 - - Unknown - - - 0 - DNA SEQ - - ? - Huang 2015 - - - (United States) - - 0 - - 1 Dennis E. Bulman
-/. - c.994+6C>T r.(=) p.(=) Unknown - benign g.42949808G>A g.44872440G>A EFTUD2(NM_001258353.2):c.994+6C>T, EFTUD2(NM_004247.3):c.994+6C>T - EFTUD2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.994+6C>T r.(=) p.(=) Unknown - benign g.42949808G>A g.44872440G>A EFTUD2(NM_001258353.2):c.994+6C>T, EFTUD2(NM_004247.3):c.994+6C>T - EFTUD2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.994+7G>A r.(=) p.(=) Unknown - likely benign g.42949807C>T - EFTUD2(NM_001142605.1):c.889+7G>A (p.(=)) - EFTUD2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1052del r.(?) p.Pro351Leufs*35 Unknown - pathogenic g.42945663del g.44868295del - - EFTUD2_000059 - Huang et al. 2015 - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1058C>T r.(?) p.(Thr353Met) Unknown - likely pathogenic g.42945655G>A g.44868287G>A - - EFTUD2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/-? 12i c.1058+3_1058+7del r.(spl?) p.? Unknown - likely pathogenic g.42945648_42945652del g.44868280_44868284del = - EFTUD2_000022 - PubMed: Gordon 2012, Journal: Gordon 2012 - - Unknown - - - 0 - DNA SEQ - - CHARGE, MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 1 Dennis E. Bulman
-/. - c.1058+3_1058+7del r.spl? p.? Unknown - benign g.42945648_42945652del g.44868280_44868284del EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA - EFTUD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1058+3_1058+7del r.spl? p.? Unknown - likely benign g.42945648_42945652del g.44868280_44868284del EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA - EFTUD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1058+3_1058+7del r.spl? p.? Unknown - likely benign g.42945648_42945652del - EFTUD2(NM_001142605.1):c.953+3_953+7del (p.?), EFTUD2(NM_001258353.1):c.1058+3_1058+7delAAGTA, EFTUD2(NM_001258353.2):c.1058+3_1058+7delAAGTA - EFTUD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? Intron 12 c.1058+5G>A r.spl? p.? Unknown ACMG pathogenic (dominant) g.0 g.44868282C>T - - EFTUD2_000127 genomic dna change not provided on report - - - De novo yes - - 0 - DNA SEQ-NG Blood WES MFDGA;MFDM UTH_1 Not published Maternal uncle to proband with T21. Otherwise, non-contributory family history; EFTUD2 Related Disorders (Mandibulofacial dysostosis with microcephaly) F no United States Maternal (Mexico) Paternal (Honduras) 00y04m 0 yes Early Childhood Intervention 1 Kate Mowrey
+/. - c.1060C>T r.(?) p.(Arg354Ter) Unknown - pathogenic g.42945264G>A g.44867896G>A EFTUD2(NM_004247.3):c.1060C>T (p.(Arg354Ter)) - EFTUD2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1060C>T r.(?) p.(Arg354Ter) Unknown - likely pathogenic g.42945264G>A g.44867896G>A EFTUD2(NM_004247.3):c.1060C>T (p.(Arg354Ter)) - EFTUD2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1149G>C r.(?) p.(Gln383His) Unknown - likely pathogenic g.42945175C>G g.44867807C>G - - EFTUD2_000121 - Journal: Thomas 2020 - - De novo - - - 0 - DNA ? - - MFDGA;MFDM Q383H Journal: Thomas 2020 - M yes - African - 0 - - 1 Huw Thomas
+?/? 13i c.1149+5G>T r.spl? p.? Unknown - likely pathogenic g.42945170C>A g.44867802C>A - - EFTUD2_000041 - Lehalle et al 2014 - - De novo - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
-?/. - c.1150G>A r.(?) p.(Val384Ile) Unknown - likely benign g.42942433C>T - EFTUD2(NM_001258353.1):c.1150G>A (p.V384I) - EFTUD2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 14 c.1172_1179del r.(?) p.(Ser391Thrfs*57) Unknown - pathogenic g.42942407_42942414del g.44865039_44865046del = - EFTUD2_000002 - PubMed: Lines et al. 2012 - - De novo yes - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Lines 2012, PubMed: Wieczorek 2009 - F no ? (unknown) - - 0 - - 1 Johan den Dunnen
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17 Unknown - pathogenic g.42941138_42941139del g.44863770_44863771del - - EFTUD2_000060 - Huang et al. 2015 - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17 Unknown - pathogenic g.42941138_42941139del g.44863770_44863771del - - EFTUD2_000060 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1297_1298del r.(?) p.(Met433ValfsTer17) Unknown - pathogenic g.42941138_42941139del g.44863770_44863771del EFTUD2(NM_004247.3):c.1297_1298delAT (p.M433Vfs*17) - EFTUD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1399G>T r.(?) p.(Asp467Tyr) Unknown - VUS g.42941037C>A g.44863669C>A EFTUD2(NM_001258353.1):c.1399G>T (p.D467Y) - EFTUD2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1420del r.(?) p.(Leu474Ter) Unknown - VUS g.42940272del g.44862904del EFTUD2(NM_001142605.1):c.1315del (p.?) - EFTUD2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 16 c.1426T>C r.(?) p.(Cys476Arg) Unknown - pathogenic g.42940262A>G g.44862894A>G = - EFTUD2_000008 - - - - De novo - - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Lines 2012 - M no Macau - - 0 - - 1 Dennis E. Bulman
+?/? 16 c.1435dup r.(?) p.(Thr479Asnfs*2) Unknown - likely pathogenic g.42940253dup g.44862885dup - - EFTUD2_000042 - Lehalle et al 2014 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - Lehalle et al 2014 - - - - - - 0 - - 1 Christopher Gordon
+/+ 16 c.1435dup r.(?) p.Thr479Asnfs*2 Unknown - pathogenic g.42940253dup g.44862885dup - - EFTUD2_000042 - PubMed: Smigiel et al. - - De novo - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1496G>A r.(?) p.Gly499Asp Maternal (confirmed) - likely pathogenic g.42940192C>T g.44862824C>T - - EFTUD2_000061 proband inherited the variant from her affected mother, in whom the variant arose de novo Huang et al. 2015 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1505A>G r.(?) p.(His502Arg) Unknown - likely benign g.42940183T>C g.44862815T>C EFTUD2(NM_001142605.1):c.1400A>G (p.(His467Arg)) - EFTUD2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1546del r.(?) p.(Leu516TrpfsTer26) Unknown - pathogenic g.42940144del g.44862776del - - EFTUD2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1607+2T>A r.spl? p.? Unknown - VUS g.42940079A>T g.44862711A>T EFTUD2(NM_001142605.1):c.1502+2T>A (p.?) - EFTUD2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ i16 c.1607+3A>G r.spl? p.? Unknown - pathogenic g.42940078T>C g.44862710T>C p.Tyr537fs*25 - EFTUD2_000006 - PubMed: Lines et al. 2012 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - 1 Dennis E. Bulman
+?/. - c.1607+3A>G r.spl? p.? Unknown - likely pathogenic g.42940078T>C g.44862710T>C EFTUD2(NM_001258353.1):c.1607+3A>G - EFTUD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1634C>T r.(?) p.(Pro545Leu) Unknown - VUS g.42937885G>A - EFTUD2(NM_004247.4):c.1634C>T (p.P545L) - EFTUD2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 17 c.1705C>T r.(?) p.(Arg569*) Unknown - pathogenic g.42937814G>A g.44860446G>A = - EFTUD2_000015 - PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - DNA arrayCGH, SEQ - - MFDGA;MFDM - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of Feingold syndrome ? ? France - 12y 0 - - 1 Dennis E. Bulman
+/+ 17 c.1705C>T r.(?) p.Arg569* Unknown - pathogenic g.42937814G>A g.44860446G>A - - EFTUD2_000015 - Huang et al. 2015 - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
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