Full data view for gene CDON

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-61-19275G>A r.(=) p.(=) Unknown - likely benign g.125912707C>T - CDON(NM_001378964.1):c.-61-19275G>A - CDON_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7C>T r.(?) p.(Pro3Ser) Unknown - likely benign g.125893365G>A - CDON(NM_001378964.1):c.7C>T (p.(Pro3Ser)) - CDON_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.76+21G>A r.(?) p.(=) Unknown - VUS g.125893275C>T g.126023380C>T - - CDON_000038 - PubMed: Bae 2011 - rs1939890 Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.77-9C>A r.(=) p.(=) Unknown - likely benign g.125891424G>T - CDON(NM_001378964.1):c.77-9C>A - CDON_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - likely benign g.125891388G>A - CDON(NM_016952.4):c.104C>T (p.(Pro35Leu)) - CDON_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.197A>G r.(?) p.(Lys66Arg) Unknown - VUS g.125891295T>C g.126021400T>C - - CDON_000007 - PubMed: Bae 2011 - rs7122277 Germline - 0.0175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 3 c.197A>G r.(?) p.(Lys66Arg) Unknown - VUS g.125891295T>C g.126021400T>C - - CDON_000007 - PubMed: Bae 2011 - rs7122277 Germline - 0.0104 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-/. - c.197A>G r.(?) p.(Lys66Arg) Unknown - benign g.125891295T>C - CDON(NM_001243597.2):c.197A>G (p.K66R) - CDON_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.223G>A r.(?) p.(Val75Ile) Unknown - VUS g.125891269C>T g.126021374C>T - - CDON_000008 - PubMed: Bae 2011 - rs3740912 Germline - 0.657 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 3 c.223G>A r.(?) p.(Val75Ile) Unknown - VUS g.125891269C>T g.126021374C>T - - CDON_000008 - PubMed: Bae 2011 - rs3740912 Germline - 0.646 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-/. - c.223G>A r.(?) p.(Val75Ile) Unknown - benign g.125891269C>T g.126021374C>T CDON(NM_001243597.2):c.223G>A (p.V75I) - CDON_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223G>A r.(?) p.(Val75Ile) Both (homozygous) - likely benign g.125891269C>T g.126021374C>T Val75Ile - CDON_000008 - PubMed: Drissi 2022 - rs3740912 Germline - - - - - DNA SEQ, SEQ-NG - - HPE Fam2Pat1 PubMed: Drissi 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.223G>A r.(?) p.(Val75Ile) Both (homozygous) - likely benign g.125891269C>T g.126021374C>T Val75Ile - CDON_000008 - PubMed: Drissi 2022 - rs3740912 Germline - - - - - DNA SEQ, SEQ-NG - - HPE Fam2Pat2 PubMed: Drissi 2022 sister M yes Pakistan - - - - - 1 Johan den Dunnen
-/. - c.223G>A r.(?) p.(Val75Ile) Unknown - benign g.125891269C>T - CDON(NM_001243597.2):c.223G>A (p.V75I) - CDON_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266C>T r.(?) p.(Ser89Phe) Unknown - VUS g.125891226G>A - CDON(NM_001243597.1):c.266C>T (p.(Ser89Phe)) - CDON_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300C>A r.(?) p.(Asn100Lys) Unknown - VUS g.125891192G>T - CDON(NM_016952.5):c.300C>A (p.N100K) - CDON_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.330T>C r.(?) p.(=) Unknown - VUS g.125891162A>G g.126021267A>G Pro110Pro - CDON_000009 - PubMed: Bae 2011 - rs35131477 Germline - 0.0684 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.330T>C r.(=) p.(=) Parent #1 - likely benign g.125891162A>G g.126021267A>G - - CDON_000009 223 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35131477 Germline - 223/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 223 Mohammed Faruq
-?/. - c.330T>C r.(=) p.(=) Both (homozygous) - likely benign g.125891162A>G g.126021267A>G - - CDON_000009 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35131477 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-/. - c.330T>C r.(?) p.(Pro110=) Unknown - benign g.125891162A>G - CDON(NM_001243597.2):c.330T>C (p.P110=) - CDON_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.349+39dup r.(?) p.(=) Unknown - VUS g.125891105dup g.126021210dup c.349+39_40insT - CDON_000039 - PubMed: Bae 2011 - - Germline - 0.189 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.350-13T>C r.(=) p.(=) Unknown - benign g.125889673A>G - CDON(NM_001243597.2):c.350-13T>C - CDON_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.350-11A>G r.(?) p.(=) Unknown - VUS g.125889671T>C g.126019776T>C - - CDON_000040 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.424A>T r.(?) p.(Arg142Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.484G>A r.(?) p.(Glu162Lys) Unknown - VUS g.125889526C>T g.126019631C>T - - CDON_000010 - PubMed: Bae 2011 - rs3740909 Germline - 0.0930 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 4 c.484G>A r.(?) p.(Glu162Lys) Unknown - VUS g.125889526C>T g.126019631C>T - - CDON_000010 - PubMed: Bae 2011 - rs3740909 Germline - 0.0677 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-?/. - c.484G>A r.(?) p.(Glu162Lys) Parent #1 - likely benign g.125889526C>T g.126019631C>T Glu162Lys - CDON_000010 - PubMed: Drissi 2022 - rs3740909 Germline - - - - - DNA SEQ, SEQ-NG - - HPE Fam2Pat1 PubMed: Drissi 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
-/. - c.484G>A r.(?) p.(Glu162Lys) Unknown - benign g.125889526C>T - CDON(NM_001243597.2):c.484G>A (p.E162K) - CDON_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.497-20G>A r.(?) p.(=) Unknown - VUS g.125888388C>T g.126018493C>T - - CDON_000041 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.640+1G>A r.spl? p.? Unknown - VUS g.125888224C>T - CDON(NM_016952.5):c.640+1G>A - CDON_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.640+12G>A r.(?) p.(=) Unknown - VUS g.125888213C>T g.126018318C>T - - CDON_000042 - PubMed: Bae 2011 - rs4426144 Germline - 0.105 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.640+12G>A r.(=) p.(=) Unknown - benign g.125888213C>T - CDON(NM_001243597.2):c.640+12G>A - CDON_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724G>C r.(?) p.(Glu242Gln) Unknown - VUS g.125887187C>G - CDON(NM_016952.5):c.724G>C (p.E242Q) - CDON_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746C>T r.(?) p.(Pro249Leu) Unknown - likely benign g.125887165G>A - CDON(NM_016952.5):c.746C>T (p.P249L) - CDON_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.913A>G r.(?) p.(Met305Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.929-2A>G r.spl? p.? Unknown - likely pathogenic g.125885407T>C - - - CDON_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1051C>G r.(?) p.(Pro351Ala) Unknown - benign g.125885283G>C - CDON(NM_001243597.2):c.1051C>G (p.P351A) - CDON_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1144G>A r.(?) p.(Ala382Thr) Unknown - VUS g.125885190C>T - CDON(NM_001378964.1):c.1144G>A (p.(Ala382Thr)) - CDON_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.1144G>C r.(?) p.(Ala382Pro) Unknown - VUS g.125885190C>G g.126015295C>G - - CDON_000011 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
?/. 7 c.1167G>A r.(?) p.(Met389Ile) Unknown - VUS g.125885167C>T g.126015272C>T - - CDON_000012 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
?/. - c.1198+3A>G r.spl? p.? Unknown - VUS g.125885133T>C g.126015238T>C CDON(NM_001243597.1):c.1198+3A>G - CDON_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1263T>C r.(?) p.(=) Unknown - VUS g.125880525A>G g.126010630A>G Phe421Phe - CDON_000013 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
?/. 8 c.1296G>A r.(?) p.(=) Unknown - VUS g.125880492C>T g.126010597C>T Pro432Pro - CDON_000014 - PubMed: Bae 2011 - rs11220313 Germline - 0.0104 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
?/. - c.1372C>T r.(?) p.(Arg458*) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1372C>T r.(?) p.(Arg458*) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1500C>T r.(?) p.(=) Unknown - VUS g.125880288G>A g.126010393G>A Cys500Cys - CDON_000015 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1553-11_1553-8del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1553-11_1553-8del r.(=) p.(=) Unknown - benign 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1603G>A r.(?) p.(Ala535Thr) Unknown - VUS g.125875902C>T g.126006007C>T - - CDON_000016 - PubMed: Bae 2011 - rs76247998 Germline - 0.00526 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1603G>A r.(?) p.(Ala535Thr) Unknown - VUS g.125875902C>T g.126006007C>T - - CDON_000016 - PubMed: Bae 2011 - rs76247998 Germline - 0.0208 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-?/. - c.1603G>A r.(?) p.(Ala535Thr) Unknown - likely benign g.125875902C>T - CDON(NM_001243597.2):c.1603G>A (p.A535T) - CDON_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1671G>A r.(?) p.(=) Unknown - VUS g.125875834C>T g.126005939C>T Lys557Lys - CDON_000017 - PubMed: Bae 2011 - rs35884952 Germline - 0.0175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1671G>A r.(?) p.(=) Unknown - VUS g.125875834C>T g.126005939C>T Lys557Lys - CDON_000017 - PubMed: Bae 2011 - rs35884952 Germline - 0.0156 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-?/. - c.1671G>A r.(=) p.(=) Parent #1 - likely benign g.125875834C>T g.126005939C>T - - CDON_000017 44 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35884952 Germline - 44/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 44 Mohammed Faruq
-/. - c.1671G>A r.(?) p.(Lys557=) Unknown - benign g.125875834C>T - CDON(NM_001243597.2):c.1671G>A (p.K557=) - CDON_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1714A>G r.(?) p.(Ser572Gly) Unknown - likely benign g.125875791T>C - CDON(NM_016952.4):c.1714A>G (p.(Ser572Gly)) - CDON_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1757C>T r.(?) p.(Pro586Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1818G>T r.(?) p.(=) Unknown - VUS g.125875687C>A g.126005792C>A Leu606Leu - CDON_000018 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1818G>T r.(?) p.(=) Unknown - VUS g.125875687C>A g.126005792C>A Leu606Leu - CDON_000018 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-/. - c.1818G>T r.(?) p.(Leu606=) Unknown - benign g.125875687C>A - CDON(NM_001243597.2):c.1818G>T (p.L606=) - CDON_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1833C>A r.(?) p.(Tyr611*) Unknown - VUS g.125875672G>T - CDON(NM_001378964.1):c.1833C>A (p.(Tyr611*)) - CDON_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1842G>A r.(?) p.(=) Unknown - VUS g.125875663C>T g.126005768C>T Lys614Lys - CDON_000019 - PubMed: Bae 2011 - rs35705696 Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1847G>A r.(?) p.(Arg616Gln) Unknown - VUS g.125875658C>T g.126005763C>T - - CDON_000020 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 9i c.1851+14G>A r.(?) p.(=) Unknown - VUS g.125875640C>T g.126005745C>T - - CDON_000043 - PubMed: Bae 2011 - - Germline - 0.0035 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1851+14G>A r.(=) p.(=) Unknown - benign g.125875640C>T - CDON(NM_001243597.2):c.1851+14G>A - CDON_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1855G>C r.(?) p.(Asp619His) Unknown - likely benign g.125873968C>G - CDON(NM_001378964.1):c.1855G>C (p.D619H) - CDON_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2037G>A r.(?) p.(=) Unknown - VUS g.125871735C>T g.126001840C>T 2037A>G; Ala678Ala - CDON_000021 - PubMed: Bae 2011 - rs516664 Germline - 0.498 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 11 c.2037G>A r.(?) p.(=) Unknown - VUS g.125871735C>T g.126001840C>T 2037A>G; Ala678Ala - CDON_000021 - PubMed: Bae 2011 - rs516664 Germline - 0.515 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-/. - c.2037G>A r.(?) p.(Ala679=) Unknown - benign g.125871735C>T g.126001840C>T CDON(NM_001243597.2):c.2037G>A (p.A679=) - CDON_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2037G>A r.(?) p.(Ala679=) Unknown - benign g.125871735C>T - CDON(NM_001243597.2):c.2037G>A (p.A679=) - CDON_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.2051C>G r.(?) p.(Thr684Ser) Maternal (confirmed) - likely pathogenic g.125871721G>C g.126001826G>C - - CDON_000001 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 aborted fetus, referred for HPE findings - - - - - - - - 1 Johan den Dunnen
-?/. - c.2051C>G r.(?) p.(Thr684Ser) Unknown - likely benign g.125871721G>C - CDON(NM_001243597.1):c.2051C>G (p.T684S) - CDON_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2057C>T r.(?) p.(Ala686Val) Unknown - VUS g.125871715G>A g.126001820G>A - - CDON_000022 - PubMed: Bae 2011 - rs12274923 Germline - 0.377 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 11 c.2057C>T r.(?) p.(Ala686Val) Unknown - VUS g.125871715G>A g.126001820G>A - - CDON_000022 - PubMed: Bae 2011 - rs12274923 Germline - 0.505 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 unaffected control - - - - - - - - 1 Johan den Dunnen
-/. - c.2057C>T r.(?) p.(Ala686Val) Unknown - benign g.125871715G>A - CDON(NM_001243597.2):c.2057C>T (p.A686V) - CDON_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.2065C>G r.(?) p.(Pro689Ala) Parent #1 - likely pathogenic g.125871707G>C g.126001812G>C - - CDON_000002 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
+?/. 11 c.2071G>A r.(?) p.(Val691Met) Maternal (inferred) - likely pathogenic g.125871701C>T g.126001806C>T - - CDON_000003 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 half-sib died at 2m of semi-lobar HPE and biliary atresia - - - - - - - - 1 Johan den Dunnen
?/. - c.2128G>A r.(?) p.(Val710Ile) Unknown - VUS g.125871644C>T - CDON(NM_016952.5):c.2128G>A (p.V710I) - CDON_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.2339T>A r.(?) p.(Val780Glu) Parent #1 - likely pathogenic g.125867125A>T g.125997230A>T - - CDON_000004 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 12i c.2362+48T>G r.(?) p.(=) Unknown - VUS g.125867054A>C g.125997159A>C - - CDON_000044 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
+?/. 13 c.2368A>G r.(?) p.(Thr790Ala) Parent #1 - likely pathogenic g.125864942T>C g.125995047T>C - - CDON_000005 de novo in patient PubMed: Bae 2011 - - De novo - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 at autopsy: incomplete separation of the frontal lobes, absent pituitary, adrenal atrophy, absent corpus callosum, optic tracts with single cerebral artery. hepatic cholestasis and polysplenia noted - - - - - - - - 1 Johan den Dunnen
+?/. - c.2373del r.(?) p.(Tyr791*) Unknown - likely pathogenic g.125864937del - - - CDON_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2383G>A r.(?) p.(Val795Ile) Unknown - likely benign g.125864927C>T - CDON(NM_001378964.1):c.2383G>A (p.(Val795Ile)) - CDON_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.2392A>G r.(?) p.(Ile798Val) Unknown - VUS g.125864918T>C g.125995023T>C - - CDON_000023 - PubMed: Bae 2011 - - Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.2462G>A r.(?) p.(Arg821His) Unknown - VUS g.125864848C>T - CDON(NM_001243597.1):c.2462G>A (p.R821H), CDON(NM_001378964.1):c.2462G>A (p.R821H), CDON(NM_016952.5):c.2462G>A (p.R821H) - CDON_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2462G>A r.(?) p.(Arg821His) Unknown - likely benign g.125864848C>T - CDON(NM_001243597.1):c.2462G>A (p.R821H), CDON(NM_001378964.1):c.2462G>A (p.R821H), CDON(NM_016952.5):c.2462G>A (p.R821H) - CDON_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2462G>A r.(?) p.(Arg821His) Unknown - likely benign g.125864848C>T - CDON(NM_001243597.1):c.2462G>A (p.R821H), CDON(NM_001378964.1):c.2462G>A (p.R821H), CDON(NM_016952.5):c.2462G>A (p.R821H) - CDON_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.2623A>G r.(?) p.(Ser875Gly) Unknown - VUS g.125864206T>C g.125994311T>C - - CDON_000024 - PubMed: Bae 2011 - rs115533243 Germline - 0.0052 - - - DNA DHPLC, SEQ - - ? - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2623A>G r.(?) p.(Ser875Gly) Parent #1 - likely benign g.125864206T>C g.125994311T>C - - CDON_000024 139 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115533243 Germline - 139/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 139 Mohammed Faruq
-/. - c.2623A>G r.(?) p.(Ser875Gly) Unknown - benign g.125864206T>C - CDON(NM_001243597.2):c.2623A>G (p.S875G) - CDON_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2650+12G>A r.(=) p.(=) Unknown - benign g.125864167C>T - CDON(NM_001378964.1):c.2650+12G>A - CDON_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2663G>A r.(?) p.(Trp888Ter) Unknown - likely benign g.125859642C>T g.125989747C>T - - CDON_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2674G>A r.(?) p.(Gly892Ser) Maternal (confirmed) - VUS g.125859631C>T g.125989736C>T - - CDON_000080 - PubMed: Gostain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMC03 PubMed: Gostain 2020 - F - Canada - - - - - 1 Johan den Dunnen
-?/. - c.2770A>G r.(?) p.(Lys924Glu) Unknown - likely benign g.125859535T>C - CDON(NM_001243597.1):c.2770A>G (p.K924E) - CDON_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2773+7G>T r.(=) p.(=) Unknown - benign g.125859525C>A - CDON(NM_001243597.2):c.2773+7G>T - CDON_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2774-8dup r.(=) p.(=) Unknown - VUS g.125853998dup g.125984103dup CDON(NM_001243597.1):c.2774-8_2774-7insT (p.(=)) - CDON_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2818A>C r.(?) p.(Ser940Arg) Parent #1 - likely pathogenic g.125853944T>G g.125984049T>G - - CDON_000006 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
?/. 16 c.2859G>T r.(?) p.(=) Unknown - VUS g.125853903C>A g.125984008C>A Gly953Gly - CDON_000025 - PubMed: Bae 2011 - - Germline - 0.00175 - - - DNA DHPLC, SEQ - - HPE11 - PubMed: Bae 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2868C>A r.(?) p.(Thr956=) Unknown - likely benign g.125853894G>T - CDON(NM_001243597.1):c.2868C>A (p.T956=) - CDON_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2896T>C r.(?) p.(Tyr966His) Unknown - VUS g.125853866A>G - CDON(NM_016952.4):c.2896T>C (p.(Tyr966His)) - CDON_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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