All variants in the DCC gene

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

164 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

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.-1504494_*26958157del r.0? p.0? - - - - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
+/. 1 c.31_91+7622del r.spl? p.? - - - - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 ClinVar-430580 - - - Germline yes - - 0 - Ashley Marsh
+/. 1_1i c.31_91+7622del r.spl? p.? - - - - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 CNV predictions confirmed with digital qPCR - - - Germline yes - - 0 - Ashley Marsh
+/. 1 c.31_91+7622del r.spl? p.? - - - - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 CNV predictions confirmed with digital qPCR - - - Germline yes - - 0 - Ashley Marsh
-?/. - c.42T>A r.(?) p.(Ala14=) - - - - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.67T>C r.(?) p.(Phe23Leu) - - - - benign g.49867224T>C g.52340854T>C DCC(NM_005215.3):c.67T>C (p.F23L) - DCC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. 2 c.377C>A r.(?) p.(Ser126*) IgC2-1 - - - likely pathogenic g.50278709C>A g.52752339C>A - - DCC_000005 ClinVar-187794 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+?/. 2 c.377C>A r.(?) p.(Ser126*) IgC2-1 - - - likely pathogenic g.50278709C>A g.52752339C>A - - DCC_000005 ClinVar-187794 PubMed: Meneret 2014 - - Germline yes 0 - 0 - Ashley Marsh
-?/. - c.492T>A r.(?) p.(Ile164=) - - - - 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 - - - - - VKGL-NL_Rotterdam
+?/. 3 c.527A>G r.(?) p.(Asn176Ser) IgC2-2 Possibly damaging Not tolerated ACMG likely pathogenic g.50432528A>G g.52906158A>G - - DCC_000008 ClinVar-187789 ACMG: PM1, PP4, BS1, BP4 - Likely benign PubMed: Meneret 2014 - rs138724679 Germline - ExAC 5 / 121228 - 0 - Ashley Marsh
+/+ - c.527A>G r.(?) p.(Asn176Ser) - PPhen-2 = P SIFT = D - pathogenic g.50432528A>G g.52906158A>G - - DCC_000008 Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal) - - - Germline - - - 0 - Ashley Marsh
+/. - c.527A>G r.(?) p.Asn176Ser - - - - 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) - - - 0 - Ashley Marsh
?/. - c.527A>G r.(?) p.(Asn176Ser) - - - - VUS g.50432528A>G g.52906158A>G DCC(NM_005215.3):c.527A>G (p.N176S) - DCC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline yes 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
+/. 3 c.571dup r.(?) p.(Val191Glyfs*35) IgC2-2 - - - pathogenic g.50432572dup g.52906202dup - - DCC_000009 ClinVar-187795 PubMed: Srour 2010, PubMed: Sharafaddinzadeh 2008 - - Germline - 0 - 0 - Ashley Marsh
-/. - c.601C>G r.(?) p.(Arg201Gly) - - - - benign g.50432602C>G g.52906232C>G DCC(NM_005215.3):c.601C>G (p.R201G) - DCC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.678A>T r.(?) p.(Ala226=) - - - - 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 - - - - - VKGL-NL_Rotterdam
+?/. 3i_5i c.(697+1_698-1)_(985+1_986-1)del r.? p.(Asp233_Leu328del) IgC2-3 - - - 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 {CV:187801} - Germline - - - 0 - Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 - - - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 ClinVar-430581 PubMed: Jamuar et al 2017 - - Germline yes - - 0 - Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 - - - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 - PubMed: Jamuar et al 2017 - - Germline yes - - 0 - Ashley Marsh
+/. 4 c.788_794del r.(?) p.(Val263Alafs*36) IgC2-3 - - - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 - PubMed: Jamuar et al 2017 - - Germline yes - - 0 - Ashley Marsh
?/+? 4 c.817T>C r.(?) p.(Trp273Arg) IgC2-3 - - ACMG VUS g.50450196T>C g.52923826T>C - - DCC_000032 ACMG criteria - PM1, PM2, PP1, PP3, PP4 Likely pathogenic PubMed: Bierhals 2018 - - Germline yes 0 - 0 - Ashley Marsh
?/. 4 c.817T>C r.(?) p.Trp273Arg - - - - 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 - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline yes 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2014, PubMed: Meneret 2015 - - Germline yes 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2014, PubMed: Meneret 2015 - - Germline yes 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 PubMed: Meneret 2015, Journal: Marsh 2017 - - Germline yes 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline yes 0 - 0 - Ashley Marsh
+/. 4 c.823C>T r.(?) p.(Arg275*) IgC2-3 - - - pathogenic g.50450202C>T g.52923832C>T - - DCC_000011 ClinVar-187796 Journal: Marsh 2017 - - Germline yes 0 - 0 - Ashley Marsh
-/. - c.848+13T>G r.(=) p.(=) - - - - benign g.50450240T>G g.52923870T>G DCC(NM_005215.3):c.848+13T>G - DCC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 5 c.916G>A r.(?) p.(Gly306Arg) IgC2-3 Probably damaging Not tolerated - VUS g.50451671G>A g.52925301G>A - - DCC_000030 Variant of unknown significance PubMed: Jamuar et al. 2017 - - Germline - - - 0 - Ashley Marsh
?/. 5 c.916G>A r.(?) p.(Gly306Arg) IgC2-3 Probably damaging Not tolerated - VUS g.50451671G>A g.52925301G>A - - DCC_000030 Variant of unknown significance - - - Germline - - - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline yes 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+/. 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+?/. 5i c.985+61132G>A r.(?) p.(=) - - - - likely pathogenic g.50512872G>A g.52986502G>A - - DCC_000031 - - - - De novo - - - 0 - Xuehan Zhuang
-?/. 5i c.986-42176G>T r.(?) p.(?) - - - - likely benign g.50547499G>T g.53021129G>T - - DCC_000001 - - - - Germline - - - 0 - Yu Sun
-?/. 5i c.986-42145T>G r.(?) p.(=) - - - - likely benign g.50547530T>G g.53021160= - - DCC_000002 - - - - Germline - - - 0 - Yu Sun
-?/. 5i c.986-42035C>A r.(?) p.(=) - - - - likely benign g.50547640C>A g.53021270C>A - - DCC_000003 - - - - Germline - - - 0 - Yu Sun
-/. - c.1062C>T r.(?) p.(Val354=) - - - - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.986_1140del p.Val329Glyfs*15 IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 not found in 760 unrelated controls; aberrant transcript identified using RT-PCR of cDNA; ClinVar-187797 PubMed: Srour 2010, OMIM:var0001 - - Germline yes - - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. ClinVar-187797 PubMed: Srour 2010, OMIM:var0001 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. ClinVar-187797 PubMed: Srour 2010, OMIM:var0001 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 Aberrant transcript identified using RT-PCR of cDNA. ClinVar-187797 PubMed: Srour 2010, OMIM:var0001 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.(986_1140del) p.(Val329Glyfs*15) IgC2-3-IgC2-4 linker - - - pathogenic g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797 PubMed: Srour 2010 - - Germline yes 0 - 0 - Ashley Marsh
+/. 6i c.1140+1G>A r.spl? p.Val329Glyfs*15 - - - - 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) - 0 - 0 - Ashley Marsh
-?/. - c.1317G>A r.(?) p.(Leu439=) - - - - likely benign g.50683781G>A - DCC(NM_005215.3):c.1317G>A (p.L439=) - DCC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.1336_1337insAGCC r.(?) p.(Arg446Glnfs*27) FN3-1 - - - pathogenic g.50683800_50683801insAGCC g.53157430_53157431insAGCC - - DCC_000019 ClinVar-187798 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+/. 8 c.1336_1337insAGCC r.(?) p.(Arg446Glnfs*27) FN3-1 - - - pathogenic g.50683800_50683801insAGCC g.53157430_53157431insAGCC - - DCC_000019 ClinVar-187798 PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh
+?/. 8 c.1409G>A r.(?) p.(Gly470Val) FN3-1 Possibly damaging Tolerated ACMG likely benign g.50683873G>A g.53157503G>A - - DCC_000015 ACMG: PM1, PP4, BS1, BP4 - Likely benign PubMed: Meneret 2014 {CV:187790} rs141813053 Germline - ExAC 385 / 121006 - 0 - Ashley Marsh
+/+ - c.1409G>A r.(?) p.(Gly470Asp) - PPhen-2 = P SIFT = D - pathogenic g.50683873G>A g.53157503G>A - - DCC_000015 - - - - Germline - - - 0 - Ashley Marsh
+/. - c.1409G>A r.(?) p.Gly470Asp - - - - 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) - - - 0 - Ashley Marsh
?/. - c.1409G>A r.(?) p.(Gly470Asp) - - - - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1457A>T r.(?) p.(Gln486Leu) - - - - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1568C>T r.(?) p.(Pro523Leu) - - - - likely benign g.50705481C>T g.53179111C>T DCC(NM_005215.3):c.1568C>T (p.(Pro523Leu)) - DCC_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 10 c.1652del r.(?) p.(Pro551Leufs*26) FN3-2 - - - pathogenic g.50731664del g.53205294del - - DCC_000021 - PubMed: Franz 2015 - - Germline - 0 - 0 - Ashley Marsh
+/. 10 c.1652del r.(?) p.(Pro551Leufs*26) FN3-2 - - - pathogenic g.50731664del g.53205294del - - DCC_000021 - PubMed: Franz 2015 - - Germline - 0 - 0 - Ashley Marsh
+/. 10 c.1652del r.(?) p.(Pro551Leufs*26) FN3-2 - - - pathogenic g.50731664del g.53205294del - - DCC_000021 - PubMed: Franz 2015 - - Germline - 0 - 0 - Ashley Marsh
+/. 10 c.1652del r.(?) p.(Pro551Leufs*26) FN3-2 - - - pathogenic g.50731664del g.53205294del - - DCC_000021 - PubMed: Franz 2015 - - Germline - 0 - 0 - Ashley Marsh
-?/. - c.1723-10A>G r.(=) p.(=) - - - - likely benign g.50734039A>G g.53207669A>G DCC(NM_005215.3):c.1723-10A>G - DCC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 11 c.1790G>C r.(?) p.(Arg597Pro) FN3-2 Probably damaging Not tolerated ACMG likely pathogenic g.50734116G>C g.53207746G>C - - DCC_000024 ClinVar-375284 ACMG: PM1, PM2, PP3, PP4 - Likely pathogenic Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
+?/. 11 c.1790G>C r.(?) p.(Arg597Pro) FN3-2 Probably damaging Not tolerated - likely pathogenic g.50734116G>C g.53207746G>C - - DCC_000024 ClinVar-375284 Journal: Marsh 2017 - - Germline - 0 - 0 - Ashley Marsh
?/. - c.1808G>A r.(?) p.(Arg603His) - - - - VUS g.50734134G>A g.53207764G>A DCC(NM_005215.3):c.1808G>A (p.R603H) - DCC_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1817C>T r.(?) p.(Pro606Leu) - - - - VUS g.50734143C>T g.53207773C>T DCC(NM_005215.3):c.1817C>T (p.P606L) - DCC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1818G>A r.(?) p.(Pro606=) - - - - likely benign g.50734144G>A - DCC(NM_005215.3):c.1818G>A (p.P606=) - DCC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1860C>T r.(?) p.(Asp620=) - - - - likely benign g.50734186C>T g.53207816C>T DCC(NM_005215.3):c.1860C>T (p.D620=) - DCC_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ - c.1933C>T r.(?) p.(Pro645Ser) - PPhen-2 = D SIFT = D - pathogenic g.50831969C>T g.53305599C>T - - DCC_000049 - - - - Germline - - - 0 - Ashley Marsh
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