All variants in the BICD2 gene

Information The variants shown are described using the NM_001003800.1 transcript reference sequence.

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

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     
-?/. - c.-69A>G r.(?) p.(=) - likely benign g.95527095T>C g.92764813T>C BICD2(NM_001003800.2):c.-69A>G - BICD2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-69A>G r.(?) p.(=) - benign g.95527095T>C - BICD2(NM_001003800.2):c.-69A>G - BICD2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-60_-58dup r.(?) p.(=) - benign g.95527092_95527094dup - BICD2(NM_001003800.2):c.-60_-58dupGGC - BICD2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.72C>G r.(?) p.(Ala24=) - benign g.95526955G>C g.92764673G>C BICD2(NM_001003800.2):c.72C>G (p.A24=) - BICD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.72C>G r.(?) p.(Ala24=) - likely benign g.95526955G>C - BICD2(NM_001003800.2):c.72C>G (p.A24=) - BICD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.133G>C r.(?) p.(Glu45Gln) - VUS g.95526894C>G g.92764612C>G - - BICD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.240+120C>G r.(=) p.(=) - benign g.95526667G>C - BICD2(NM_001003800.2):c.240+120C>G - BICD2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.269A>G r.(?) p.(Lys90Arg) - likely benign g.95491490T>C g.92729208T>C BICD2(NM_001003800.1):c.269A>G (p.(Lys90Arg)), BICD2(NM_001003800.2):c.269A>G (p.K90R), BICD2(NM_015250.4):c.269A>G (p.K90R) - BICD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.269A>G r.(?) p.(Lys90Arg) - likely benign g.95491490T>C g.92729208T>C BICD2(NM_001003800.1):c.269A>G (p.(Lys90Arg)), BICD2(NM_001003800.2):c.269A>G (p.K90R), BICD2(NM_015250.4):c.269A>G (p.K90R) - BICD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.320C>T r.(?) p.(Ser107Leu) - pathogenic g.95491439G>A g.92729157G>A - - BICD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.320C>T r.(?) p.(Ser107Leu) - pathogenic g.95491439G>A g.92729157G>A - - BICD2_000020 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen
+/. - c.320C>T r.(?) p.(Ser107Leu) - pathogenic g.95491439G>A g.92729157G>A NM_015250.3:c.320C>T - BICD2_000020 - PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.321G>A r.(?) p.(=) - likely benign g.95491438C>T - BICD2(NM_001003800.2):c.321G>A (p.S107=) - BICD2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.378G>A r.(?) p.(=) - likely benign g.95491381C>T - BICD2(NM_001003800.2):c.378G>A (p.K126=) - BICD2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.404C>T r.(?) p.(Thr135Met) - likely benign g.95491355G>A - BICD2(NM_001003800.1):c.404C>T (p.(Thr135Met)) - BICD2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.563A>C r.(?) p.(Asn188Thr) - pathogenic g.95484981T>G - BICD2(NM_001003800.2):c.563A>C (p.N188T) - BICD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.565A>T r.(?) p.(Ile189Phe) - pathogenic g.95484979T>A g.92722697T>A BICD2(NM_001003800.1):c.565A>T (p.I189F) - BICD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.565A>T r.(?) p.(Ile189Phe) - likely pathogenic g.95484979T>A g.92722697T>A BICD2(NM_001003800.1):c.565A>T (p.I189F) - BICD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.581A>G r.(?) p.(Gln194Arg) - likely pathogenic g.95484963T>C g.92722681T>C - - BICD2_000002 - - - - De novo - - - - - Markus Storbeck
+/. - c.593T>C r.(?) p.(Leu198Pro) - pathogenic (dominant) g.95484951A>G g.92722669A>G - - BICD2_000063 - PubMed: Oliwa 2022 - - De novo - - - - - Johan den Dunnen
?/. - c.606+5G>A r.spl? p.? - VUS g.95484933C>T g.92722651C>T - - BICD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.628C>A r.(?) p.(His210Asn) ACMG likely pathogenic (dominant) g.95483016G>T g.92720734G>T - - BICD2_000044 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
+?/. - c.629A>G r.(?) p.(His210Arg) - likely pathogenic g.95483015T>C - BICD2(NM_001003800.1):c.629A>G (p.H210R) - BICD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.638A>G r.(?) p.(Lys213Arg) - VUS g.95483006T>C - BICD2(NM_001003800.2):c.638A>G (p.K213R) - BICD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.786A>G r.(?) p.(Ser262=) - likely benign g.95482858T>C - BICD2(NM_001003800.2):c.786A>G (p.S262=) - BICD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.816C>T r.(?) p.(Tyr272=) - likely benign g.95482828G>A g.92720546G>A BICD2(NM_001003800.1):c.816C>T (p.Y272=) - BICD2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.874C>T r.(?) p.(Pro292Ser) - VUS g.95482770G>A g.92720488G>A BICD2(NM_001003800.1):c.874C>T (p.P292S), BICD2(NM_001003800.2):c.874C>T (p.P292S) - BICD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.874C>T r.(?) p.(Pro292Ser) - VUS g.95482770G>A - BICD2(NM_001003800.1):c.874C>T (p.P292S), BICD2(NM_001003800.2):c.874C>T (p.P292S) - BICD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.945_947del r.(?) p.(Asn315del) - VUS g.95482701_95482703del - BICD2(NM_001003800.1):c.945_947delCAA (p.N315del) - BICD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1050G>A r.(?) p.(Gln350=) - benign g.95482594C>T - BICD2(NM_001003800.2):c.1050G>A (p.Q350=) - BICD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1063-130G>A r.(=) p.(=) - benign g.95481994C>T - BICD2(NM_001003800.2):c.1063-130G>A - BICD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1063-111G>C r.(=) p.(=) - benign g.95481975C>G - BICD2(NM_001003800.2):c.1063-111G>C - BICD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1064T>G r.(?) p.(Met355Arg) - VUS g.95481863A>C g.92719581A>C - - BICD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1127C>T r.(?) p.(Thr376Met) - likely benign g.95481800G>A - BICD2(NM_001003800.2):c.1127C>T (p.T376M) - BICD2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1166G>A r.(?) p.(Arg389His) - VUS g.95481761C>T - BICD2(NM_001003800.1):c.1166G>A (p.(Arg389His)) - BICD2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1204G>A r.(?) p.(Ala402Thr) - likely benign g.95481723C>T g.92719441C>T BICD2(NM_001003800.2):c.1204G>A (p.A402T) - BICD2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1204G>A r.(?) p.(Ala402Thr) - VUS g.95481723C>T - BICD2(NM_001003800.2):c.1204G>A (p.A402T) - BICD2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1211A>G r.(?) p.(Lys404Arg) - likely benign g.95481716T>C - BICD2(NM_001003800.1):c.1211A>G (p.(Lys404Arg)) - BICD2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1217G>A r.(?) p.(Arg406Gln) - likely benign g.95481710C>T g.92719428C>T BICD2(NM_001003800.1):c.1217G>A (p.(Arg406Gln)), BICD2(NM_001003800.2):c.1217G>A (p.R406Q) - BICD2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1217G>A r.(?) p.(Arg406Gln) - VUS g.95481710C>T g.92719428C>T BICD2(NM_001003800.1):c.1217G>A (p.(Arg406Gln)), BICD2(NM_001003800.2):c.1217G>A (p.R406Q) - BICD2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1237G>A r.(?) p.(Glu413Lys) - likely pathogenic g.95481690C>T g.92719408C>T - - BICD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1237G>A r.(?) p.(Glu413Lys) - VUS g.95481690C>T g.92719408C>T - - BICD2_000016 most probably de novo (parental material from paraffin-embedded material); does not explain clinics PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1250A>G r.(?) p.(Asp417Gly) - VUS g.95481677T>C g.92719395T>C BICD2(NM_001003800.2):c.1250A>G (p.D417G, p.(Asp417Gly)) - BICD2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1250A>G r.(?) p.(Asp417Gly) - VUS g.95481677T>C - BICD2(NM_001003800.2):c.1250A>G (p.D417G, p.(Asp417Gly)) - BICD2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1349G>A r.(?) p.(Arg450His) - VUS g.95481578C>T - BICD2(NM_001003800.2):c.1349G>A (p.R450H) - BICD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1349G>A r.(?) p.(Arg450His) - likely benign g.95481578C>T - BICD2(NM_001003800.2):c.1349G>A (p.R450H) - BICD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1438G>A r.(?) p.(Ala480Thr) - likely benign g.95481489C>T - BICD2(NM_001003800.2):c.1438G>A (p.A480T) - BICD2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1443C>A r.(?) p.(Leu481=) - likely benign g.95481484G>T g.92719202G>T BICD2(NM_001003800.2):c.1443C>A (p.L481=) - BICD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1466A>G r.(?) p.(Glu489Gly) - VUS g.95481461T>C - - - BICD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1483G>C r.(?) p.(Asp495His) - VUS g.95481444C>G - BICD2(NM_001003800.1):c.1483G>C (p.(Asp495His)) - BICD2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1486C>T r.(?) p.(Arg496Cys) - VUS g.95481441G>A - - - BICD2_000071 - - - rs1457844438 CLASSIFICATION record - - - - - MobiDetails
+/. - c.1502G>C r.(?) p.(Arg501Pro) - pathogenic g.95481425C>G g.92719143C>G - - BICD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1502G>C r.(?) p.(Arg501Pro) - pathogenic (dominant) g.95481425C>G g.92719143C>G - - BICD2_000015 - PubMed: Westra 2019 - - De novo - - - - - Johan den Dunnen
?/. - c.1534G>C r.(?) p.(Val512Leu) - VUS g.95481393C>G - BICD2(NM_001003800.2):c.1534G>C (p.V512L) - BICD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1536C>T r.(?) p.(Val512=) - likely benign g.95481391G>A g.92719109G>A BICD2(NM_001003800.2):c.1536C>T (p.V512=) - BICD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1543G>A r.(?) p.(Glu515Lys) - VUS g.95481384C>T - BICD2(NM_001003800.2):c.1543G>A (p.(Glu515Lys)) - BICD2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1559T>C r.(?) p.(Leu520Pro) ACMG likely pathogenic (dominant) g.95481368A>G g.92719086A>G - - BICD2_000041 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
+/. - c.1604C>T r.(?) p.(Ala535Val) ACMG pathogenic (dominant) g.95481323G>A g.92719041G>A - - BICD2_000040 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
-?/. - c.1607A>G r.(?) p.(Asn536Ser) - likely benign g.95481320T>C - - - BICD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1625G>A r.(?) p.(Cys542Tyr) - pathogenic g.95481302C>T - - - BICD2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1626C>G r.(?) p.(Cys542Trp) - likely pathogenic g.95481301G>C g.92719019G>C - - BICD2_000003 - - - - De novo - - - - - Markus Storbeck
?/. - c.1655T>C r.(?) p.(Val552Ala) - VUS g.95481272A>G g.92718990A>G - - BICD2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1667A>C r.(?) p.(Tyr556Ser) - VUS g.95481260T>G g.92718978T>G BICD2(NM_001003800.1):c.1667A>C (p.(Tyr556Ser)) - BICD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1673G>T r.(?) p.(Arg558Leu) - VUS g.95481254C>A g.92718972C>A BICD2(NM_001003800.2):c.1673G>T (p.R558L) - BICD2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1719C>A r.(?) p.(Thr573=) - likely benign g.95481208G>T g.92718926G>T - - BICD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1741C>T r.(?) p.(Arg581Cys) - VUS g.95481186G>A - BICD2(NM_001003800.1):c.1741C>T (p.R581C) - BICD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1806G>A r.(?) p.(Thr602=) - benign g.95481121C>T g.92718839C>T BICD2(NM_001003800.2):c.1806G>A (p.T602=) - BICD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1904G>A r.(?) p.(Arg635His) - likely benign g.95481023C>T - BICD2(NM_001003800.2):c.1904G>A (p.(Arg635His)) - BICD2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1908C>T r.(?) p.(Asp636=) - likely benign g.95481019G>A - BICD2(NM_001003800.2):c.1908C>T (p.D636=) - BICD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1946C>T r.(?) p.(Thr649Met) - VUS g.95480981G>A - BICD2(NM_001003800.1):c.1946C>T (p.(Thr649Met)) - BICD2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1993G>A r.(?) p.(Val665Met) - likely benign g.95480934C>T g.92718652C>T - - BICD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2048T>C r.(?) p.(Leu683Pro) - likely pathogenic g.95480879A>G - BICD2(NM_001003800.2):c.2048T>C (p.L683P) - BICD2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2060G>A r.(?) p.(Arg687Gln) - VUS g.95480867C>T - - - BICD2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2080C>T r.(?) p.(Arg694Cys) - likely pathogenic g.95480847G>A g.92718565G>A - - BICD2_000001 - - - - Germline - - - - - Markus Storbeck
+/. - c.2080C>T r.(?) p.(Arg694Cys) - pathogenic (dominant) g.95480847G>A g.92718565G>A - - BICD2_000001 - PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Johan den Dunnen
+/. - c.2080C>T r.(?) p.(Arg694Cys) - pathogenic (dominant) g.95480847G>A g.92718565G>A - - BICD2_000001 - PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Johan den Dunnen
+/. - c.2080C>T r.(?) p.(Arg694Cys) - pathogenic g.95480847G>A g.92718565G>A - - BICD2_000001 - - - - De novo - - - - - Francisco Ribeiro-Mourão
+/. - c.2080C>T r.(?) p.(Arg694Cys) - pathogenic (dominant) g.95480847G>A - - - BICD2_000001 - - - - Germline - - - - - Francisco Ribeiro-Mourão
?/. - c.2105A>G r.(?) p.(Gln702Arg) - VUS g.95480822T>C g.92718540T>C - - BICD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2105A>G r.(?) p.(Gln702Arg) - VUS g.95480822T>C g.92718540T>C - - BICD2_000013 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.2108C>T r.(?) p.(Thr703Met) - likely pathogenic g.95480229G>A g.92717947G>A - - BICD2_000004 - - - - Germline - - - - - Markus Storbeck
+/. - c.2113G>A r.(?) p.(Glu705Lys) ACMG pathogenic (dominant) g.95480224C>T g.92717942C>T - - BICD2_000039 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
+?/. - c.2156A>T r.(?) p.(Lys719Met) - likely pathogenic (recessive) g.95480181T>A g.92717899T>A - - BICD2_000065 ACMG PM1, PM2, PP1, PP2, PP3, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2156A>T r.(?) p.(Lys719Met) - likely pathogenic (recessive) g.95480181T>A g.92717899T>A - - BICD2_000065 ACMG PM1, PM2, PP1, PP2, PP3, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2156A>T r.(?) p.(Lys719Met) - likely pathogenic (recessive) g.95480181T>A g.92717899T>A - - BICD2_000065 ACMG PM1, PM2, PP1, PP2, PP3, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2156A>T r.(?) p.(Lys719Met) - likely pathogenic (recessive) g.95480181T>A g.92717899T>A - - BICD2_000065 ACMG PM1, PM2, PP1, PP2, PP3, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2231C>T r.(?) p.(Ser744Phe) - likely pathogenic g.95480106G>A - - - BICD2_000081 - - - rs1064793875 Unknown - - - - - MobiDetails
+?/. - c.2239C>T r.(?) p.(Arg747Cys) - likely pathogenic g.95480098G>A g.92717816G>A BICD2(NM_001003800.1):c.2239C>T (p.R747C) - BICD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2239C>T r.(?) p.(Arg747Cys) - likely pathogenic g.95480098G>A - BICD2(NM_001003800.1):c.2239C>T (p.R747C) - BICD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2245A>G r.(?) p.(Met749Val) - likely benign g.95480092T>C g.92717810T>C BICD2(NM_001003800.2):c.2245A>G (p.M749V) - BICD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2245A>G r.(?) p.(Met749Val) - likely benign g.95480092T>C g.92717810T>C BICD2(NM_001003800.2):c.2245A>G (p.M749V) - BICD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2258+15G>C r.(=) p.(=) - likely benign g.95480064C>G - BICD2(NM_001003800.2):c.2258+15G>C - BICD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2258+101G>A r.(=) p.(=) - benign g.95479978C>T - BICD2(NM_001003800.2):c.2258+101G>A - BICD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2259-19A>G r.(=) p.(=) - likely benign g.95477764T>C - BICD2(NM_001003800.2):c.2259-19A>G - BICD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2265C>T r.(?) p.(Asp755=) - likely benign g.95477739G>A g.92715457G>A BICD2(NM_001003800.2):c.2265C>T (p.D755=) - BICD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2347C>T r.(?) p.(Arg783Cys) - VUS g.95477657G>A - BICD2(NM_001003800.2):c.2347C>T (p.R783C) - BICD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2397C>T r.(?) p.(Leu799=) - likely benign g.95477607G>A g.92715325G>A BICD2(NM_001003800.2):c.2397C>T (p.L799=) - BICD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2419C>T r.(?) p.(Arg807Trp) - VUS g.95477585G>A - BICD2(NM_001003800.1):c.2419C>T (p.(Arg807Trp)) - BICD2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2422C>T r.(?) p.(Arg808Cys) - VUS g.95477582G>A g.92715300G>A BICD2(NM_001003800.2):c.2422C>T (p.R808C, p.(Arg808Cys)) - BICD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2422C>T r.(?) p.(Arg808Cys) - VUS g.95477582G>A - BICD2(NM_001003800.2):c.2422C>T (p.R808C, p.(Arg808Cys)) - BICD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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