Unique variants in the DCC gene

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

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Reported     

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     
./. 1 - 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 - - - - - Johan den Dunnen
+/. 3 1, 1_1i c.31_91+7622del r.spl? p.? - - - - pathogenic g.49867188_49874870del g.52340818_52348500del p.(Pro11Thrfs*15) - DCC_000028 ClinVar-430580, CNV predictions confirmed with digital qPCR - - - Germline yes - - - - Ashley Marsh
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Groningen
+?/. 2 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 - - - Ashley Marsh
-?/. 1 - 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
+/+, +/., ?/., +?/. 4 3 c.527A>G r.(?) p.(Asn176Ser), p.Asn176Ser IgC2-2 PPhen-2 = P, Possibly damaging SIFT = D, Not tolerated ACMG pathogenic, NA, VUS, likely pathogenic g.50432528A>G g.52906158A>G DCC(NM_005215.3):c.527A>G (p.N176S) - DCC_000008 Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal), VKGL data sharing initiative Nederland, 2 more items PubMed: Meneret 2014 - rs138724679 Germline, In vitro (cloned), CLASSIFICATION record - ExAC 5 / 121228 - - - Ashley Marsh, VKGL-NL_Rotterdam
+/. 7 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 - - - Ashley Marsh
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+?/. 1 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 - - - - - Ashley Marsh
+/. 3 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 - - - - Ashley Marsh
?/+?, ?/. 2 4 c.817T>C r.(?) p.(Trp273Arg), p.Trp273Arg IgC2-3 - - ACMG VUS, NA g.50450196T>C g.52923826T>C - - DCC_000032 ACMG criteria - PM1, PM2, PP1, PP3, PP4 Likely pathogenic, 1 more item PubMed: Bierhals 2018 - - Germline, In silico yes 0 - - - Ashley Marsh
+/. 12 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, PubMed: Meneret 2015, Journal: Marsh 2017, 2 more items - - Germline yes 0 - - - Ashley Marsh
-/. 1 - 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 - - - - - VKGL-NL_Groningen
?/. 2 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 - - - - - Ashley Marsh
+/. 12 5 c.925del r.(?) p.(Thr309Profs*26) IgC2-3 - - - pathogenic g.50451680del g.52925310del - - DCC_000025 ClinVar-375281 Journal: Marsh 2017 - - Germline yes 0 - - - Ashley Marsh
+?/. 1 5i c.985+61132G>A r.(?) p.(=) - - - - likely pathogenic g.50512872G>A g.52986502G>A - - DCC_000031 - - - - De novo - - - - - Xuehan Zhuang
-?/. 1 5i c.986-42176G>T r.(?) p.(?) - - - - likely benign g.50547499G>T g.53021129G>T - - DCC_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 5i c.986-42145T>G r.(?) p.(=) - - - - likely benign g.50547530T>G g.53021160= - - DCC_000002 - - - - Germline - - - - - Yu Sun
-?/. 1 5i c.986-42035C>A r.(?) p.(=) - - - - likely benign g.50547640C>A g.53021270C>A - - DCC_000003 - - - - Germline - - - - - Yu Sun
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 19 6i c.1140+1G>A r.(986_1140del), r.986_1140del, r.spl? p.(Val329Glyfs*15), p.Val329Glyfs*15 IgC2-3-IgC2-4 linker - - - pathogenic, NA g.50589830G>A g.53063460G>A - - DCC_000004 ClinVar-187797, Aberrant transcript identified using RT-PCR of cDNA. ClinVar-187797, 2 more items PubMed: Srour 2010, PubMed: Srour 2010, OMIM:var0001 - - Germline, In vitro (cloned) yes 0 - - - Ashley Marsh
-?/. 1 - 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
+/. 2 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 - - - Ashley Marsh
+?/., ?/., +/+, +/. 4 8 c.1409G>A r.(?) p.(Gly470Val), p.(Gly470Asp), p.Gly470Asp FN3-1 Possibly damaging, PPhen-2 = P Tolerated, SIFT = D ACMG likely benign, VUS, pathogenic, NA g.50683873G>A g.53157503G>A DCC(NM_005215.3):c.1409G>A (p.G470D) - DCC_000015 ACMG: PM1, PP4, BS1, BP4 - Likely benign, VKGL data sharing initiative Nederland, 1 more item PubMed: Meneret 2014 {CV:187790} rs141813053 Germline, CLASSIFICATION record, In vitro (cloned) - ExAC 385 / 121006 - - - Ashley Marsh, VKGL-NL_Rotterdam
?/. 1 - 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
-?/. 1 - 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
+/. 4 10 c.1652del r.(?) p.(Pro551Leufs*26) FN3-2 - - - pathogenic g.50731664del g.53205294del - - DCC_000021 - PubMed: Franz 2015 - - Germline - 0 - - - Ashley Marsh
-?/. 1 - 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
+?/. 2 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, ClinVar-375284 Journal: Marsh 2017 - - Germline - 0 - - - Ashley Marsh
?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
+/+, +/. 2 - c.1933C>T r.(?) p.(Pro645Ser), p.Pro645Ser - PPhen-2 = D SIFT = D - pathogenic, NA g.50831969C>T g.53305599C>T - - DCC_000049 1 more item - - - Germline, In vitro (cloned) - - - - - Ashley Marsh
+/+, +/. 2 - c.1946G>A r.(?) p.(Gly649Glu), p.Gly649Glu - PPhen-2 = B SIFT = B - pathogenic, NA g.50831982G>A g.53305612G>A - - DCC_000050 CHD7 p.Tyr1616Cys SEMA3A p.Arg66Trp, 1 more item - - - Germline, In vitro (cloned) - - - - - Ashley Marsh
?/+? 1 13 c.1962del r.(?) p.(Phe654Leufs*46) FN3-3 - - - VUS g.50831998del g.53305628del 1962delT - DCC_000033 - PubMed: Bierhals 2018 - - Germline - - - - - Tatjana Bierhals
?/. 1 - c.1981C>T r.(?) p.(Arg661Ter) - - - - VUS g.50832017C>T g.53305647C>T - - DCC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 13 c.1999dup r.(?) p.(Arg667Profs*4) FN3-2 - - - VUS g.50832035dup g.53305665dup 1999dupC - DCC_000034 - PubMed: Bierhals 2018 - - De novo - - - - - Tatjana Bierhals
+?/. 1 13 c.2000G>A r.(?) p.(Arg667His) FN3-3 Probably damaging Not tolerated ACMG likely pathogenic g.50832036G>A g.53305666G>A - - DCC_000016 ClinVar-187791 ACMG: PM1, PP3, PP4, BS1 - Unclear significance PubMed: Meneret 2014 - rs200099519 Germline - ExAC 194 / 121316 - - - Ashley Marsh
?/. 1 - c.2041T>A r.(?) p.(Tyr681Asn) - - - - VUS g.50832077T>A g.53305707T>A DCC(NM_005215.3):c.2041T>A (p.(Tyr681Asn)) - DCC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2053+6T>C r.(=) p.(=) - - - - VUS g.50832095T>C g.53305725T>C DCC(NM_005215.3):c.2053+6T>C - DCC_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2053+9T>C r.(=) p.(=) - - - - likely benign g.50832098T>C g.53305728T>C DCC(NM_005215.3):c.2053+9T>C - DCC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2054-3T>C r.spl? p.? - - - - likely benign g.50848414T>C g.53322044T>C DCC(NM_005215.3):c.2054-3T>C - DCC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 14 c.2071C>A r.(?) p.(Gln691Lys) FN3-3 Benign Tolerated ACMG likely pathogenic g.50848434C>A g.53322064C>A - - DCC_000027 ACMG: PM1, PM2, PP4, BP4 - Unclear significance PubMed: Jamuar et al 2017 - - Germline ? - - - - Ashley Marsh
+?/., -?/., ?/. 3 14 c.2105A>G r.(?) p.(Asn702Ser) FN3-3 Probably damaging Tolerated ACMG likely pathogenic, likely benign, VUS g.50848468A>G g.53322098A>G DCC(NM_005215.3):c.2105A>G (p.N702S) - DCC_000014 ClinVar-187792 ACMG: PM1, PP3, PP4, BS1 - Unclear significance, 2 more items PubMed: Djarmati-Westenberger 2011 PubMed: Meneret 2014, PubMed: Narang 2020, Journal: Narang 2020 - rs35691189 Germline, CLASSIFICATION record ? ExAC 372 / 121354, 3/2795 individuals - - - Ashley Marsh, VKGL-NL_Groningen, Mohammed Faruq
-?/. 1 - c.2158C>T r.(?) p.(Leu720=) - - - - likely benign g.50848521C>T g.53322151C>T DCC(NM_005215.3):c.2158C>T (p.L720=) - DCC_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 15 c.2227A>T r.(?) p.(Met743Leu) FN3-4 Benign Tolerated ACMG likely pathogenic g.50866145A>T g.53339775A>T - - DCC_000023 ClinVar-375285 ACMG: PM1, PP4, BS1, BP4 - Likely benign, ClinVar-375285 Journal: Marsh 2017 - rs199651452 Germline - 0 - - - Ashley Marsh
+?/. 3 15 c.2260G>A r.(?) p.(Val754Met) FN3-4 Possibly damaging Tolerated ACMG likely pathogenic g.50866178G>A g.53339808G>A - - DCC_000022 ClinVar-375286 ACMG: PM1, PP4, BP4 - Unclear significance, ClinVar-375286 Journal: Marsh 2017 - - Germline yes ExAC 19 / 121284 - - - Ashley Marsh
+?/. 6 16 c.2378T>G r.(?) p.(Val793Gly) FN3-4 Probably damaging Not tolerated ACMG likely pathogenic g.50912431T>G g.53386061T>G - - DCC_000007 ClinVar-375282 ACMG: PM1, PM2, PP3, PP4 - Likely pathogenic, ClinVar-375282 Journal: Marsh 2017 - - Germline yes 0 - - - Ashley Marsh
+?/. 1 16 c.2407G>A r.(?) p.(Gly803Arg) FN3-4 Possibly damaging Not tolerated ACMG likely pathogenic g.50912460G>A g.53386090G>A Initially reported as p.(Gly803Asp) - DCC_000018 ClinVar-187793 ACMG: PM1, PM6, PP3, PP4 - Likely pathogenic PubMed: Meneret 2014 - - De novo - 0 - - - Ashley Marsh
+?/. 4 16 c.2414G>A r.(?) p.(Gly805Glu) FN3-4 Probably damaging Not tolerated ACMG likely pathogenic g.50912467G>A g.53386097G>A - - DCC_000026 ClinVar-375283 ACMG: PM1, PM2, PP3, PP4 - Likely pathogenic, ClinVar-375283 Journal: Marsh 2017 - - Germline yes 0 - - - Ashley Marsh
-/. 1 - c.2455+7G>A r.(=) p.(=) - - - - benign g.50912515G>A g.53386145G>A DCC(NM_005215.3):c.2455+7G>A - DCC_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2508G>C r.(?) p.(Ser836=) - - - - likely benign g.50918077G>C g.53391707G>C DCC(NM_005215.3):c.2508G>C (p.S836=) - DCC_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2636G>A r.(?) p.(Arg879Gln) - - - - VUS g.50918205G>A g.53391835G>A DCC(NM_005215.3):c.2636G>A (p.R879Q) - DCC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 17 c.2677G>A r.(?) p.(Ala893Thr) FN3-5 Benign Tolerated ACMG likely pathogenic g.50918246G>A g.53391876G>A - - DCC_000012 ClinVar-375287 ACMG: PM1, PM2, PP4, BP4 - Unclear significance Journal: Marsh 2017 - - Germline - 0 - - - Ashley Marsh
-?/. 1 - c.2724A>G r.(?) p.(Thr908=) - - - - likely benign g.50923713A>G g.53397343A>G DCC(NM_005215.3):c.2724A>G (p.T908=) - DCC_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 1 19 c.2858_2865delinsGG r.(?) p.(Val953_Thr955delinsGly) FN3-6 - - - VUS g.50929186_50929193delinsGG g.53402816_53402823delinsGG - - DCC_000035 - PubMed: Bierhals 2018 - - Germline - - - - - Tatjana Bierhals
+/. 3 19 c.2873_2877dup r.(?) p.(Pro960Glyfs*8) FN3-6 - - - pathogenic g.50929201_50929205dup g.53402831_53402835dup 2871_2875dup - DCC_000017 ClinVar-187799 PubMed: Meneret 2014 - - Germline yes 0 - - - Ashley Marsh
-/. 1 - c.3108T>C r.(?) p.(Pro1036=) - - - - benign g.50936994T>C g.53410624T>C DCC(NM_005215.3):c.3108T>C (p.P1036=) - DCC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.3130+10A>G r.(=) p.(=) - - - - benign g.50937026A>G g.53410656A>G DCC(NM_005215.3):c.3130+10A>G - DCC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3151G>T r.(?) p.(Ala1051Ser) - - - - VUS g.50942514G>T g.53416144G>T DCC(NM_005215.3):c.3151G>T (p.A1051S) - DCC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3163+127C>T r.(=) p.(=) - - - - benign g.50942653C>T g.53416283C>T DCC(NM_005215.3):c.3163+127C>T - DCC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3167G>A r.(?) p.(Arg1056His) - - - - VUS g.50961517G>A g.53435147G>A DCC(NM_005215.3):c.3167G>A (p.R1056H) - DCC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3322G>A r.(?) p.(Val1108Ile) - - - - likely benign g.50976962G>A g.53450592G>A DCC(NM_005215.3):c.3322G>A (p.(Val1108Ile)) - DCC_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3349G>A r.(?) p.(Val1117Met) - - - - VUS g.50976989G>A g.53450619G>A DCC(NM_005215.3):c.3349G>A (p.V1117M) - DCC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3578A>G r.(?) p.(Gln1193Arg) - - - - VUS g.50985787A>G g.53459417A>G DCC(NM_005215.3):c.3578A>G (p.Q1193R) - DCC_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3621T>C r.(?) p.(Gly1207=) - - - - likely benign g.50994265T>C g.53467895T>C DCC(NM_005215.3):c.3621T>C (p.G1207=) - DCC_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 25 c.3649A>G r.(?) p.(Met1217Val) P1-P2 linker Benign Not tolerated ACMG likely pathogenic g.50994293A>G g.53467923A>G - - DCC_000020 ClinVar-375288 ACMG: PM1, PM2, PP4, BP4 - Unclear significance, ClinVar-375288 Journal: Marsh 2017 - - Germline - 0 - - - Ashley Marsh
?/. 1 - c.3703A>C r.(?) p.(Met1235Leu) - - - - VUS g.50994347A>C g.53467977A>C DCC(NM_005215.3):c.3703A>C (p.M1235L) - DCC_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 26 c.3748G>A r.(?) p.(Ala1250Thr) P1-P2 linker Probably damaging Tolerated ACMG likely pathogenic g.51013178G>A g.53486808G>A - - DCC_000013 ClinVar-375288 ACMG: PM1, PP3, PP4, BS1 - Unclear significance, ClinVar-375288 Journal: Marsh 2017 - - Germline - ExAC 2 / 121388 - - - Ashley Marsh
+/. 4 26 c.3836_3837del r.(?) p.(Leu1279Profs*24) P1-P2 linker - - - pathogenic g.51013266_51013267del g.53486896_53486897del 3835_3836del - DCC_000006 ClinVar-187800 PubMed: Depienne 2011, 1 more item - - Germline ? 0 - - - Ashley Marsh
?/. 1 - c.4016C>T r.(?) p.(Thr1339Ile) - - - - VUS g.51025785C>T g.53499415C>T DCC(NM_005215.3):c.4016C>T (p.T1339I) - DCC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.4052C>T r.(?) p.(Pro1351Leu) - - - - VUS g.51025821C>T g.53499451C>T DCC(NM_005215.3):c.4052C>T (p.P1351L) - DCC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4111+4_4111+8dup r.spl? p.? - - - - likely benign g.51025884_51025888dup g.53499514_53499518dup DCC(NM_005215.3):c.4111_4111+1insGTAAA - DCC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 1 28 c.4211_4215dup r.(?) p.(Ser1406Lysfs*22) - - - - VUS g.51053086_51053090dup g.53526716_53526720dup 4211_4215dupAAGTG - DCC_000036 - PubMed: Bierhals 2018 - - Germline yes - - - - Tatjana Bierhals
-/. 1 - c.4255-19G>T r.(=) p.(=) - - - - benign g.51056915G>T g.53530545G>T DCC(NM_005215.3):c.4255-19G>T - DCC_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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