Full data view for gene DCC

Information The variants shown are described using the NM_005215.3 transcript reference sequence.

207 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-1504494_*26958157del r.0? p.0? - Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) - Paternal (confirmed) - pathogenic (dominant) g.49867159T>C g.52340789T>C - - DCC_000087 - PubMed: Nissenkorn 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MRMV Fam1Pat1 PubMed: Nissenkorn 2021 family, affected father/daughter F - Israel - - - - - 2 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) - Unknown - pathogenic (dominant) g.49867159T>C g.52340789T>C - - DCC_000087 - PubMed: Nissenkorn 2021 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - WES MRMV Fam1Pat2 PubMed: Nissenkorn 2021 father M - Israel - - - - - 1 Johan den Dunnen
+/. 1 c.31_91+7622del r.spl? p.? - Unknown - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 {CV:430580} - - - Germline yes - - - - DNA SEQ Blood - Healthy/Control - PubMed: Jamuar et al 2017 mother of 00101209 and 00101210 F - Mexico Hispanic - - - - 3 Ashley Marsh
+/. 1_1i c.31_91+7622del r.spl? p.? - Both (homozygous) - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 CNV predictions confirmed with digital qPCR - - - Germline yes - - - - DNA arrayCNV, SEQ Blood - HGPPS2, MRMV1 - PubMed: Jamuar et al 2017 offspring of 00101208 M yes Mexico Hispanic - - - - 1 Ashley Marsh
+/. 1 c.31_91+7622del r.spl? p.? - Both (homozygous) - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 CNV predictions confirmed with digital qPCR - - - Germline yes - - - - DNA arrayCNV, SEQ Blood - HGPPS2, MRMV1 - PubMed: Jamuar 2017 offspring of 00101208 M yes Mexico Hispanic - - - - 1 Ashley Marsh
-?/. - c.42T>A r.(?) p.(Ala14=) - Unknown - likely benign g.49867199T>A g.52340829T>A DCC(NM_005215.3):c.42T>A (p.A14=) - DCC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.67T>C r.(?) p.(Phe23Leu) - Unknown - benign g.49867224T>C g.52340854T>C DCC(NM_005215.4):c.67T>C (p.F23L) - DCC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>A r.(?) p.(Gly78Asp) - Unknown - VUS g.50278565G>A - DCC(NM_005215.4):c.233G>A (p.(Gly78Asp)) - DCC_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.362T>A r.(?) p.(Leu121*) - Unknown - pathogenic g.50278694T>A - - - DCC_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.377C>A r.(?) p.(Ser126*) IgC2-1 Unknown - likely pathogenic g.50278709C>A g.52752339C>A - - DCC_000005 {CV:187794} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Meneret 2014 - M - Germany white - - - - 1 Ashley Marsh
+?/. 2 c.377C>A r.(?) p.(Ser126*) IgC2-1 Paternal (confirmed) - likely pathogenic g.50278709C>A g.52752339C>A - - DCC_000005 {CV:187794} PubMed: Meneret 2014 - - Germline yes - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Meneret 2014 - M - Germany white - - - - 1 Ashley Marsh
?/. - c.466A>G r.(?) p.(Thr156Ala) - Unknown - VUS g.50432467A>G - DCC(NM_005215.3):c.466A>G (p.(Thr156Ala)) - DCC_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492T>A r.(?) p.(Ile164=) - Unknown - likely benign g.50432493T>A g.52906123T>A DCC(NM_005215.3):c.492T>A (p.I164=) - DCC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.527A>G r.(?) p.(Asn176Ser) IgC2-2 Maternal (confirmed) ACMG likely pathogenic g.50432528A>G g.52906158A>G - - DCC_000008 {CV:187789} ACMG: PM1, PP4, BS1, BP4 - Likely benign PubMed: Meneret 2014 - rs138724679 Germline - ExAC 5 / 121228 - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Meneret 2014 - M - - African - - - - 1 Ashley Marsh
+/+ - c.527A>G r.(?) p.(Asn176Ser) - Paternal (confirmed) - pathogenic g.50432528A>G g.52906158A>G - - DCC_000008 Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal) - - - Germline - - - - - DNA SEQ-NG-I Blood - KAL, MRMV1 - PubMed: Bouilly 2018 Caucasian M no - - - - - - 1 Ashley Marsh
+/. - c.527A>G r.(?) p.Asn176Ser - Unknown - NA g.50432528A>G g.52906158A>G - - DCC_000008 impaired NTN1 binding, significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 5.71 - - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>G r.(?) p.(Asn176Ser) - Unknown - VUS g.50432528A>G g.52906158A>G DCC(NM_005215.3):c.527A>G (p.N176S), DCC(NM_005215.4):c.527A>G (p.(Asn176Ser), p.N176S) - DCC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>G r.(?) p.(Asn176Ser) - Unknown - VUS g.50432528A>G - DCC(NM_005215.3):c.527A>G (p.N176S), DCC(NM_005215.4):c.527A>G (p.(Asn176Ser), p.N176S) - DCC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>G r.(?) p.(Asn176Ser) - Unknown - VUS g.50432528A>G - DCC(NM_005215.3):c.527A>G (p.N176S), DCC(NM_005215.4):c.527A>G (p.(Asn176Ser), p.N176S) - DCC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.562C>T r.(?) p.(Arg188*) - Unknown - likely pathogenic g.50432563C>T - - - DCC_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Unknown - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - ? - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Unknown - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - MRMV1 - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Paternal (inferred) - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline yes - - - - DNA SEQ Blood - MRMV1 - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Paternal (inferred) - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - ? - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Paternal (inferred) - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - ?, MRMV1 - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Paternal (inferred) - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 Paternal (inferred) - pathogenic g.50432572dup g.52906202dup - - DCC_000009 {CV:187795} PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - - - - - DNA SEQ Blood - MRMV1 - PubMed: Srour 2010 - M - Iran Persian - - - - 1 Ashley Marsh
-/. - c.601C>G r.(?) p.(Arg201Gly) - Unknown - benign g.50432602C>G g.52906232C>G DCC(NM_005215.4):c.601C>G (p.R201G) - DCC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678A>T r.(?) p.(Ala226=) - Unknown - likely benign g.50432679A>T g.52906309A>T DCC(NM_005215.3):c.678A>T (p.A226=) - DCC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i_5i c.(697+1_698-1)_(985+1_986-1)del r.? p.(Asp233_Leu328del) IgC2-3 Unknown - likely pathogenic g.(50432699_50450076)_(50451741_50589674)del - 698-?_985+?del - DCC_000010 quantitative multiplex PCR of short fluorescent fragments: 2-fold reduction of exons 4 and 5 PubMed: Meneret 2014 ClinVar-187801 - Germline - - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Borgheresi 2010 PubMed: Welniarz 2017 - F - Italy white - - - - 1 Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 Unknown - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 {CV:430581} PubMed: Jamuar et al 2017 - - Germline yes - - - - DNA SEQ Blood - Healthy/Control - PubMed: Jamuar et al 2017 father of 00101374 M - Saudi Arabia Arabic - - - - 3 Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 Unknown - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 - PubMed: Jamuar et al 2017 - - Germline yes - - - - DNA SEQ Blood - Healthy/Control - PubMed: Jamuar et al 2017 mother of 00101374 F - Saudi Arabia Arabic - - - - 1 Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 Both (homozygous) - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 - PubMed: Jamuar et al 2017 - - Germline yes - - - - DNA SEQ Blood - HGPPS2 - PubMed: Jamuar 2017 offspring of 00101372 and 00101373 F yes Saudi Arabia Arabic - - - - 1 Ashley Marsh
?/+? 4 c.817T>C r.(?) p.(Trp273Arg) IgC2-3 Maternal (confirmed) ACMG VUS g.50450196T>C g.52923826T>C - - DCC_000032 ACMG criteria - PM1, PM2, PP1, PP3, PP4 Likely pathogenic PubMed: Bierhals 2018 - - Germline yes - - - - DNA SEQ Blood - MRMV1 P3a PubMed: Bierhals 2018 - F no Germany white - - - - 3 Tatjana Bierhals
?/. 4 c.817T>C r.(?) p.Trp273Arg - Unknown - NA g.50450196T>C g.52923826T>C - - DCC_000032 CADD - 26.7, REVEL - 0.902, M-CAP - 0.624, MPC - 1.00 PubMed: Bierhals 2018 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Maternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - MRMV1 - Journal: Marsh 2017 - M - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Maternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ Blood - MRMV1 - Journal: Marsh 2017 - M - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ Blood - ACC, MRMV1 - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline yes - - - - DNA SEQ Blood - ACC, MRMV1 - Journal: Marsh 2017 - M - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - ACC - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ Blood - MRMV1 - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (inferred) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (confirmed) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2014, PubMed: Meneret 2015 - - Germline yes - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments MRMV1 - PubMed: Meneret 2014 - F - France white - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Maternal (confirmed) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2014, PubMed: Meneret 2015 - - Germline yes - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments MRMV1 - PubMed: Meneret 2014 - F - France white - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (confirmed) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} PubMed: Meneret 2015, Journal: Marsh 2017 - - Germline yes - - - - DNA SEQ Blood - ACC, MRMV1 - PubMed: Meneret 2015 - M - France white - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (confirmed) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline yes - - - - DNA SEQ Blood - ? - Journal: Marsh 2017 - F - France white - - - - 1 Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 Paternal (confirmed) - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 {CV:187796} Journal: Marsh 2017 - - Germline yes - - - - DNA SEQ Blood - ? - Journal: Marsh 2017 - M - France white - - - - 1 Ashley Marsh
-/. - c.848+13T>G r.(=) p.(=) - Unknown - benign g.50450240T>G g.52923870T>G DCC(NM_005215.4):c.848+13T>G - DCC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.916G>A r.(?) p.(Gly306Arg) IgC2-3 Maternal (inferred) - VUS g.50451671G>A g.52925301G>A - - DCC_000030 Variant of unknown significance PubMed: Jamuar et al. 2017 - - Germline - - - - - DNA SEQ-NG Blood - ACC - PubMed: Jamuar 2017 - F no United States white - - - - 1 Ashley Marsh
?/. 5 c.916G>A r.(?) p.(Gly306Arg) IgC2-3 Unknown - VUS g.50451671G>A g.52925301G>A - - DCC_000030 Variant of unknown significance - - - Germline - - - - - DNA SEQ Blood - ? - PubMed: Jamuar 2017 mother of 00108613 F - United States white - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Unknown - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Unknown - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Unknown - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - ? - Journal: Marsh 2017 - M - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Maternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ-NG-I Blood - ACC - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Maternal (inferred) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ-NG-I Blood - ACC - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Maternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ-NG-I Blood - ACC - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Paternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline yes - - - - DNA SEQ Blood - ACC, MRMV1 - Journal: Marsh 2017 - F yes Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Maternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - Journal: Marsh 2017 - M - Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Paternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - ? - Journal: Marsh 2017 - M yes Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Paternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - ? - Journal: Marsh 2017 - F yes Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Paternal (confirmed) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - Healthy/Control - Journal: Marsh 2017 - F yes Algeria North African - - - - 1 Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 Maternal (inferred) - pathogenic g.50451680del g.52925310del - - DCC_000025 {CV:375281} Journal: Marsh 2017 - - Germline - - - - - DNA SEQ Blood - ACC - Journal: Marsh 2017 - F - Algeria North African - - - - 1 Ashley Marsh
+?/. 5i c.985+61132G>A r.(?) p.(=) - Unknown - likely pathogenic g.50512872G>A g.52986502G>A - - DCC_000031 - - - - De novo - - - - - DNA SEQ-NG-I blood - HCAD HK180C - - M - Hong Kong - - - - - 1 Xuehan Zhuang
-?/. 5i c.986-42176G>T r.(?) p.(?) - Both (homozygous) - likely benign g.50547499G>T g.53021129G>T - - DCC_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.986-42145T>G r.(?) p.(=) - Both (homozygous) - likely benign g.50547530T>G g.53021160= - - DCC_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.986-42035C>A r.(?) p.(=) - Both (homozygous) - likely benign g.50547640C>A g.53021270C>A - - DCC_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1038G>C r.(?) p.(Met346Ile) - Unknown - VUS g.50589727G>C - DCC(NM_005215.3):c.1038G>C (p.(Met346Ile)) - DCC_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1062C>T r.(?) p.(Val354=) - Unknown - benign g.50589751C>T g.53063381C>T DCC(NM_005215.3):c.1062C>T (p.V354=) - DCC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Unknown - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.986_1140del p.Val329Glyfs*15 IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 not found in 760 unrelated controls; aberrant transcript identified using RT-PCR of cDNA; {CV:187797} PubMed: Srour 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA arrayCNV, RT-PCR, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. {CV:187797} PubMed: Srour 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA arrayCNV, RT-PCR, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ? - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. {CV:187797} PubMed: Srour 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA arrayCNV, RT-PCR, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Paternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. {CV:187797} PubMed: Srour 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA arrayCNV, RT-PCR, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - F - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker Maternal (confirmed) - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 {CV:187797} PubMed: Srour 2010 - - Germline yes - - - - DNA arrayCNV, SEQ Blood - ?, MRMV1 - PubMed: Srour 2009 - M - Canada white - - - - 1 Ashley Marsh
+/. 6i c.1140+1G>A r.spl? p.Val329Glyfs*15 - Unknown - NA g.50589830G>A g.53063460G>A - - DCC_000004 RT-PCR: detection of aberrant transcript (LCL mRNA). Immunoblot: identification of truncated mutant protein (COS7 transfected with pcDNA4-DCC mutant). Netrin binding studies: significant Netrin binding reduction (COS7 transfected with pcDNA4-DCC mutant) PubMed: Srour 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157G>A r.(?) p.(Arg386Gln) - Unknown - VUS g.50592432G>A - DCC(NM_005215.3):c.1157G>A (p.(Arg386Gln)), DCC(NM_005215.4):c.1157G>A (p.R386Q) - DCC_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157G>A r.(?) p.(Arg386Gln) - Unknown - likely benign g.50592432G>A - DCC(NM_005215.3):c.1157G>A (p.(Arg386Gln)), DCC(NM_005215.4):c.1157G>A (p.R386Q) - DCC_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1317G>A r.(?) p.(Leu439=) - Unknown - likely benign g.50683781G>A - DCC(NM_005215.3):c.1317G>A (p.L439=) - DCC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1336_1337insAGCC r.(?) p.(Arg446Glnfs*27) FN3-1 Maternal (confirmed) - pathogenic g.50683800_50683801insAGCC g.53157430_53157431insAGCC - - DCC_000019 {CV:187798} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Meneret 2014 - M - France white - - - - 1 Ashley Marsh
+/. 8 c.1336_1337insAGCC r.(?) p.(Arg446Glnfs*27) FN3-1 Unknown - pathogenic g.50683800_50683801insAGCC g.53157430_53157431insAGCC - - DCC_000019 {CV:187798} PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ? - PubMed: Meneret 2014 - F - France white - - - - 1 Ashley Marsh
+?/. 8 c.1409G>A r.(?) p.(Gly470Val) FN3-1 Maternal (confirmed) ACMG likely benign g.50683873G>A g.53157503G>A - - DCC_000015 ACMG: PM1, PP4, BS1, BP4 - Likely benign PubMed: Meneret 2014 ClinVar-187790 rs141813053 Germline - ExAC 385 / 121006 - - - DNA SEQ, QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments ?, MRMV1 - PubMed: Meneret 2014 - F - Italy white - - - - 1 Ashley Marsh
+/+ - c.1409G>A r.(?) p.(Gly470Asp) - Maternal (inferred) - pathogenic g.50683873G>A g.53157503G>A - - DCC_000015 - - - - Germline - - - - - DNA SEQ-NG-I Blood - KAL, MRMV1 - PubMed: Bouilly 2018 Caucasian M no - - - - - - 1 Ashley Marsh
+/. - c.1409G>A r.(?) p.Gly470Asp - Unknown - NA g.50683873G>A g.53157503G>A - - DCC_000015 significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 5.4 - - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1409G>A r.(?) p.(Gly470Asp) - Unknown - VUS g.50683873G>A g.53157503G>A DCC(NM_005215.3):c.1409G>A (p.G470D) - DCC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1436C>T r.(?) p.(Thr479Ile) - Unknown - likely benign g.50705349C>T - DCC(NM_005215.3):c.1436C>T (p.(Thr479Ile)) - DCC_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1438A>T r.(?) p.(Thr480Ser) - Unknown - likely benign g.50705351A>T - DCC(NM_005215.3):c.1438A>T (p.(Thr480Ser)) - DCC_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1457A>T r.(?) p.(Gln486Leu) - Unknown - VUS g.50705370A>T g.53179000A>T DCC(NM_005215.3):c.1457A>T (p.Q486L) - DCC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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