Unique variants in the CDON gene

Information The variants shown are described using the NM_016952.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-61-19275G>A r.(=) p.(=) - likely benign g.125912707C>T - CDON(NM_001378964.1):c.-61-19275G>A - CDON_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.7C>T r.(?) p.(Pro3Ser) - likely benign g.125893365G>A - CDON(NM_001378964.1):c.7C>T (p.(Pro3Ser)) - CDON_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 2i c.76+21G>A r.(?) p.(=) - VUS g.125893275C>T g.126023380C>T - - CDON_000038 - PubMed: Bae 2011 - rs1939890 Germline - 0.00175 - - - Johan den Dunnen
-?/. 1 - c.77-9C>A r.(=) p.(=) - likely benign g.125891424G>T - CDON(NM_001378964.1):c.77-9C>A - CDON_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.104C>T r.(?) p.(Pro35Leu) - likely benign g.125891388G>A - CDON(NM_016952.4):c.104C>T (p.(Pro35Leu)) - CDON_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 3 3 c.197A>G r.(?) p.(Lys66Arg) - benign, VUS g.125891295T>C g.126021400T>C CDON(NM_001243597.2):c.197A>G (p.K66R) - CDON_000007 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs7122277 CLASSIFICATION record, Germline - 0.0104, 0.0175 - - - Johan den Dunnen, VKGL-NL_AMC
-/., -?/., ?/. 6 3 c.223G>A r.(?) p.(Val75Ile) - benign, likely benign, VUS g.125891269C>T g.126021374C>T CDON(NM_001243597.2):c.223G>A (p.V75I), Val75Ile - CDON_000008 VKGL data sharing initiative Nederland PubMed: Bae 2011, PubMed: Drissi 2022 - rs3740912 CLASSIFICATION record, Germline - 0.646, 0.657 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.266C>T r.(?) p.(Ser89Phe) - VUS g.125891226G>A - CDON(NM_001243597.1):c.266C>T (p.(Ser89Phe)) - CDON_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.300C>A r.(?) p.(Asn100Lys) - VUS g.125891192G>T - CDON(NM_016952.5):c.300C>A (p.N100K) - CDON_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/., ?/. 4 3 c.330T>C r.(=), r.(?) p.(=), p.(Pro110=) - benign, likely benign, VUS g.125891162A>G g.126021267A>G CDON(NM_001243597.2):c.330T>C (p.P110=), Pro110Pro - CDON_000009 223 heterozygous; Clinindb (India), 9 homozygous; Clinindb (India), 1 more item PubMed: Bae 2011, PubMed: Narang 2020, Journal: Narang 2020 - rs35131477 CLASSIFICATION record, Germline - 0.0684, 223/2795 individuals, 9/2795 individuals - - - Johan den Dunnen, VKGL-NL_AMC, Mohammed Faruq
?/. 1 3i c.349+39dup r.(?) p.(=) - VUS g.125891105dup g.126021210dup c.349+39_40insT - CDON_000039 - PubMed: Bae 2011 - - Germline - 0.189 - - - Johan den Dunnen
-/. 1 - c.350-13T>C r.(=) p.(=) - benign g.125889673A>G - CDON(NM_001243597.2):c.350-13T>C - CDON_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 3i c.350-11A>G r.(?) p.(=) - VUS g.125889671T>C g.126019776T>C - - CDON_000040 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
?/. 1 - c.424A>T r.(?) p.(Arg142Trp) - VUS g.125889586T>A g.126019691T>A CDON(NM_001243597.1):c.424A>T (p.(Arg142Trp)) - CDON_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 4 4 c.484G>A r.(?) p.(Glu162Lys) - benign, likely benign, VUS g.125889526C>T g.126019631C>T CDON(NM_001243597.2):c.484G>A (p.E162K), Glu162Lys - CDON_000010 VKGL data sharing initiative Nederland PubMed: Bae 2011, PubMed: Drissi 2022 - rs3740909 CLASSIFICATION record, Germline - 0.0677, 0.0930 - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 4i c.497-20G>A r.(?) p.(=) - VUS g.125888388C>T g.126018493C>T - - CDON_000041 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
?/. 1 - c.640+1G>A r.spl? p.? - VUS g.125888224C>T - CDON(NM_016952.5):c.640+1G>A - CDON_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 2 5i c.640+12G>A r.(=), r.(?) p.(=) - benign, VUS g.125888213C>T g.126018318C>T CDON(NM_001243597.2):c.640+12G>A - CDON_000042 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs4426144 CLASSIFICATION record, Germline - 0.105 - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.724G>C r.(?) p.(Glu242Gln) - VUS g.125887187C>G - CDON(NM_016952.5):c.724G>C (p.E242Q) - CDON_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.746C>T r.(?) p.(Pro249Leu) - likely benign g.125887165G>A - CDON(NM_016952.5):c.746C>T (p.P249L) - CDON_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.913A>G r.(?) p.(Met305Val) - likely benign g.125886998T>C g.126017103T>C CDON(NM_001243597.1):c.913A>G (p.(Met305Val)) - CDON_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.929-2A>G r.spl? p.? - likely pathogenic g.125885407T>C - - - CDON_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1051C>G r.(?) p.(Pro351Ala) - benign g.125885283G>C - CDON(NM_001243597.2):c.1051C>G (p.P351A) - CDON_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1144G>A r.(?) p.(Ala382Thr) - VUS g.125885190C>T - CDON(NM_001378964.1):c.1144G>A (p.(Ala382Thr)) - CDON_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 7 c.1144G>C r.(?) p.(Ala382Pro) - VUS g.125885190C>G g.126015295C>G - - CDON_000011 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
?/. 1 7 c.1167G>A r.(?) p.(Met389Ile) - VUS g.125885167C>T g.126015272C>T - - CDON_000012 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
?/. 1 - c.1198+3A>G r.spl? p.? - VUS g.125885133T>C g.126015238T>C CDON(NM_001243597.1):c.1198+3A>G - CDON_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.1263T>C r.(?) p.(=) - VUS g.125880525A>G g.126010630A>G Phe421Phe - CDON_000013 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
?/. 1 8 c.1296G>A r.(?) p.(=) - VUS g.125880492C>T g.126010597C>T Pro432Pro - CDON_000014 - PubMed: Bae 2011 - rs11220313 Germline - 0.0104 - - - Johan den Dunnen
?/. 2 - c.1372C>T r.(?) p.(Arg458*) - VUS g.125880416G>A - CDON(NM_016952.4):c.1372C>T (p.(Arg458*)), CDON(NM_016952.5):c.1372C>T (p.R458*) - CDON_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 1 8 c.1500C>T r.(?) p.(=) - VUS g.125880288G>A g.126010393G>A Cys500Cys - CDON_000015 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
-/., ?/. 2 - c.1553-11_1553-8del r.(=) p.(=) - benign, VUS g.125875967_125875970del - CDON(NM_001243597.1):c.1553-11_1553-8delTCTC, CDON(NM_001378964.1):c.1553-11_1553-8delTCTC - CDON_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., ?/. 3 9 c.1603G>A r.(?) p.(Ala535Thr) - likely benign, VUS g.125875902C>T g.126006007C>T CDON(NM_001243597.2):c.1603G>A (p.A535T) - CDON_000016 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs76247998 CLASSIFICATION record, Germline - 0.00526, 0.0208 - - - Johan den Dunnen, VKGL-NL_AMC
-/., -?/., ?/. 4 9 c.1671G>A r.(=), r.(?) p.(=), p.(Lys557=) - benign, likely benign, VUS g.125875834C>T g.126005939C>T CDON(NM_001243597.2):c.1671G>A (p.K557=), Lys557Lys - CDON_000017 44 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Bae 2011, PubMed: Narang 2020, Journal: Narang 2020 - rs35884952 CLASSIFICATION record, Germline - 0.0156, 0.0175, 44/2795 individuals - - - Johan den Dunnen, VKGL-NL_AMC, Mohammed Faruq
-?/. 1 - c.1714A>G r.(?) p.(Ser572Gly) - likely benign g.125875791T>C - CDON(NM_016952.4):c.1714A>G (p.(Ser572Gly)) - CDON_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1757C>T r.(?) p.(Pro586Leu) - VUS g.125875748G>A g.126005853G>A CDON(NM_001243597.1):c.1757C>T (p.(Pro586Leu)) - CDON_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 3 9 c.1818G>T r.(?) p.(=), p.(Leu606=) - benign, VUS g.125875687C>A g.126005792C>A CDON(NM_001243597.2):c.1818G>T (p.L606=), Leu606Leu - CDON_000018 VKGL data sharing initiative Nederland PubMed: Bae 2011 - - CLASSIFICATION record, Germline - 0.00175, 0.0052 - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.1833C>A r.(?) p.(Tyr611*) - VUS g.125875672G>T - CDON(NM_001378964.1):c.1833C>A (p.(Tyr611*)) - CDON_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 9 c.1842G>A r.(?) p.(=) - VUS g.125875663C>T g.126005768C>T Lys614Lys - CDON_000019 - PubMed: Bae 2011 - rs35705696 Germline - 0.0052 - - - Johan den Dunnen
?/. 1 9 c.1847G>A r.(?) p.(Arg616Gln) - VUS g.125875658C>T g.126005763C>T - - CDON_000020 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
-/., ?/. 2 9i c.1851+14G>A r.(=), r.(?) p.(=) - benign, VUS g.125875640C>T g.126005745C>T CDON(NM_001243597.2):c.1851+14G>A - CDON_000043 VKGL data sharing initiative Nederland PubMed: Bae 2011 - - CLASSIFICATION record, Germline - 0.0035 - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.1855G>C r.(?) p.(Asp619His) - likely benign g.125873968C>G - CDON(NM_001378964.1):c.1855G>C (p.D619H) - CDON_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., ?/. 4 11 c.2037G>A r.(?) p.(=), p.(Ala679=) - benign, VUS g.125871735C>T g.126001840C>T 2037A>G; Ala678Ala, CDON(NM_001243597.2):c.2037G>A (p.A679=) - CDON_000021 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs516664 CLASSIFICATION record, Germline - 0.498, 0.515 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
+?/., -?/. 2 11 c.2051C>G r.(?) p.(Thr684Ser) - likely benign, likely pathogenic g.125871721G>C g.126001826G>C CDON(NM_001243597.1):c.2051C>G (p.T684S) - CDON_000001 VKGL data sharing initiative Nederland PubMed: Bae 2011 - - CLASSIFICATION record, Germline - 0.00175 - - - Johan den Dunnen, VKGL-NL_Rotterdam
-/., ?/. 3 11 c.2057C>T r.(?) p.(Ala686Val) - benign, VUS g.125871715G>A g.126001820G>A CDON(NM_001243597.2):c.2057C>T (p.A686V) - CDON_000022 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs12274923 CLASSIFICATION record, Germline - 0.377, 0.505 - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 1 11 c.2065C>G r.(?) p.(Pro689Ala) - likely pathogenic g.125871707G>C g.126001812G>C - - CDON_000002 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
+?/. 1 11 c.2071G>A r.(?) p.(Val691Met) - likely pathogenic g.125871701C>T g.126001806C>T - - CDON_000003 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
?/. 1 - c.2128G>A r.(?) p.(Val710Ile) - VUS g.125871644C>T - CDON(NM_016952.5):c.2128G>A (p.V710I) - CDON_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 12 c.2339T>A r.(?) p.(Val780Glu) - likely pathogenic g.125867125A>T g.125997230A>T - - CDON_000004 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
?/. 1 12i c.2362+48T>G r.(?) p.(=) - VUS g.125867054A>C g.125997159A>C - - CDON_000044 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
+?/. 1 13 c.2368A>G r.(?) p.(Thr790Ala) - likely pathogenic g.125864942T>C g.125995047T>C - - CDON_000005 de novo in patient PubMed: Bae 2011 - - De novo - 0.00175 - - - Johan den Dunnen
+?/. 1 - c.2373del r.(?) p.(Tyr791*) - likely pathogenic g.125864937del - - - CDON_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2383G>A r.(?) p.(Val795Ile) - likely benign g.125864927C>T - CDON(NM_001378964.1):c.2383G>A (p.(Val795Ile)) - CDON_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 13 c.2392A>G r.(?) p.(Ile798Val) - VUS g.125864918T>C g.125995023T>C - - CDON_000023 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
-?/., ?/. 3 - c.2462G>A r.(?) p.(Arg821His) - likely benign, VUS g.125864848C>T - 1 more item - CDON_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/., ?/. 3 14 c.2623A>G r.(?) p.(Ser875Gly) - benign, likely benign, VUS g.125864206T>C g.125994311T>C CDON(NM_001243597.2):c.2623A>G (p.S875G) - CDON_000024 139 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Bae 2011, PubMed: Narang 2020, Journal: Narang 2020 - rs115533243 CLASSIFICATION record, Germline - 0.0052, 139/2794 individuals - - - Johan den Dunnen, VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.2650+12G>A r.(=) p.(=) - benign g.125864167C>T - CDON(NM_001378964.1):c.2650+12G>A - CDON_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2663G>A r.(?) p.(Trp888Ter) - likely benign g.125859642C>T g.125989747C>T - - CDON_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2674G>A r.(?) p.(Gly892Ser) - VUS g.125859631C>T g.125989736C>T - - CDON_000080 - PubMed: Gostain 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2770A>G r.(?) p.(Lys924Glu) - likely benign g.125859535T>C - CDON(NM_001243597.1):c.2770A>G (p.K924E) - CDON_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2773+7G>T r.(=) p.(=) - benign g.125859525C>A - CDON(NM_001243597.2):c.2773+7G>T - CDON_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2774-8dup r.(=) p.(=) - VUS g.125853998dup g.125984103dup CDON(NM_001243597.1):c.2774-8_2774-7insT (p.(=)) - CDON_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 16 c.2818A>C r.(?) p.(Ser940Arg) - likely pathogenic g.125853944T>G g.125984049T>G - - CDON_000006 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
?/. 1 16 c.2859G>T r.(?) p.(=) - VUS g.125853903C>A g.125984008C>A Gly953Gly - CDON_000025 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
-?/. 1 - c.2868C>A r.(?) p.(Thr956=) - likely benign g.125853894G>T - CDON(NM_001243597.1):c.2868C>A (p.T956=) - CDON_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2896T>C r.(?) p.(Tyr966His) - VUS g.125853866A>G - CDON(NM_016952.4):c.2896T>C (p.(Tyr966His)) - CDON_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2923G>A r.(?) p.(Val975Ile) - benign g.125853839C>T g.125983944C>T - - CDON_000062 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113921147 Germline - 3/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.2953G>A r.(?) p.(Ala985Thr) - likely benign g.125853809C>T - CDON(NM_016952.5):c.2953G>A (p.A985T) - CDON_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2975G>A r.(?) p.(Arg992His) - benign g.125853787C>T g.125983892C>T CDON(NM_001243597.2):c.2975G>A (p.R992H) - CDON_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 4 17 c.3039C>T r.(?) p.(=), p.(Asn1013=) - benign, VUS g.125851181G>A g.125981286G>A Asn1013Asn, CDON(NM_001243597.2):c.3039C>T (p.N1013=) - CDON_000026 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs684805 CLASSIFICATION record, Germline - 0.166, 0.187 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.3041G>C r.(?) p.(Gly1014Ala) - VUS g.125851179C>G - CDON(NM_001378964.1):c.3041G>C (p.(Gly1014Ala)) - CDON_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3052G>A r.(?) p.(Asp1018Asn) - VUS g.125851168C>T - CDON(NM_016952.5):c.3052G>A (p.D1018N) - CDON_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 17 c.3156G>A r.(?) p.(=) - VUS g.125851064C>T g.125981169C>T Lys1052Lys - CDON_000027 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
-/., ?/. 4 17 c.3165T>C r.(?) p.(=), p.(Asn1055=) - benign, VUS g.125851055A>G g.125981160A>G Asn1055Asn, CDON(NM_001243597.2):c.3165T>C (p.N1055=) - CDON_000028 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs564214 CLASSIFICATION record, Germline - 0.166, 0.187 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.3276+1G>T r.spl? p.? - VUS g.125850943C>A - CDON(NM_001378964.1):c.3276+1G>T - CDON_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 4 18 c.3294G>A r.(?) p.(=), p.(Thr1098=) - benign, VUS g.125848261C>T g.125978366C>T CDON(NM_001243597.2):c.3294G>A (p.T1098=), Thr1098Thr - CDON_000029 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs3740904 CLASSIFICATION record, Germline - 0.072, 0.265 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 18 c.3297C>A r.(?) p.(=) - VUS g.125848258G>T g.125978363G>T Ala1099Ala - CDON_000030 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
-?/. 1 - c.3339T>C r.(?) p.(Asn1113=) - likely benign g.125848216A>G - CDON(NM_001243597.1):c.3339T>C (p.N1113=) - CDON_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 19 c.3393C>T r.(?) p.(=) - VUS g.125831857G>A g.125961962G>A Ser1131Ser - CDON_000031 - PubMed: Bae 2011 - - Germline - 0.00175 - - - Johan den Dunnen
+/. 1 - c.3395C>T r.(?) p.(Pro1132Leu) - pathogenic g.125831855G>A g.125961960G>A NM_016952: c.C3395T; p.P1132L - CDON_000045 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.3406del r.(?) p.(Val1136SerfsTer4) - VUS g.125831845del g.125961950del CDON(NM_001243597.1):c.3406delG (p.V1136Sfs*4) - CDON_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3419C>T r.(?) p.(Ala1140Val) - VUS g.125831831G>A - CDON(NM_016952.5):c.3419C>T (p.A1140V) - CDON_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3463G>A r.(?) p.(Val1155Met) - likely benign g.125831787C>T - CDON(NM_001243597.1):c.3463G>A (p.(Val1155Met)) - CDON_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.3474del r.(?) p.(Val1159TyrfsTer3) - likely pathogenic g.125831776del g.125961881del - - CDON_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 19 c.3526G>A r.(?) p.(Val1176Ile) - likely benign, VUS g.125831724C>T g.125961829C>T CDON(NM_001243597.2):c.3526G>A (p.V1176I) - CDON_000032 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs78304400 CLASSIFICATION record, Germline - 0.0008, 0.010 - - - Johan den Dunnen, VKGL-NL_AMC
-/., ?/. 4 19 c.3549C>T r.(?) p.(=), p.(Val1183=) - benign, VUS g.125831701G>A g.125961806G>A CDON(NM_001243597.2):c.3549C>T (p.V1183=), Val1183Val - CDON_000033 VKGL data sharing initiative Nederland PubMed: Bae 2011 - rs2276061 CLASSIFICATION record, Germline - 0.063, 0.469 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 2 19 c.3559C>T r.(?) p.(Arg1187Cys) - VUS g.125831691G>A g.125961796G>A - - CDON_000034 - PubMed: Bae 2011 - - Germline - 0.00175, 0.010 - - - Johan den Dunnen
-/., ?/. 3 19 c.3588C>T r.(?) p.(=), p.(Asp1196=) - benign, VUS g.125831662G>A g.125961767G>A Asp1196Asp, CDON(NM_001243597.2):c.3588C>T (p.D1196=) - CDON_000035 VKGL data sharing initiative Nederland PubMed: Bae 2011 - - CLASSIFICATION record, Germline - 0.00175, 0.0208 - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.3631+70G>T r.(=) p.(=) - VUS g.125831549C>A - CDON(NM_001243597.1):c.3700+1G>T - CDON_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 6 20 c.3662T>A r.(?) p.(Ile1221Asn) - benign, likely benign, VUS g.125830970A>T g.125961075A>T CDON(NM_001243597.2):c.3731T>A (p.I1244N), Ile1221As - CDON_000036 VKGL data sharing initiative Nederland PubMed: Bae 2011, PubMed: Drissi 2022 - rs684535 CLASSIFICATION record, Germline - 0.372, 0.802 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.3710G>T r.(?) p.(Gly1237Val) - VUS g.125830922C>A - CDON(NM_016952.5):c.3710G>T (p.G1237V) - CDON_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 20 c.*15C>T r.(?) p.(=) - VUS g.125830822G>A g.125960927G>A 3794*15C>T - CDON_000037 - PubMed: Bae 2011 - - Germline - 0.0052 - - - Johan den Dunnen
-?/. 2 - c.*278T>C r.(=) p.(=) - likely benign g.125830559A>G g.125960664A>G - - CDON_000061 1 homozygous; Clinindb (India), 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73628538 Germline - 1/2794 individuals, 60/2794 individuals - - - Mohammed Faruq
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