All variants in the ANGPT2 gene

Information The variants shown are described using the NM_001118887.1 transcript reference sequence.

161 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.-329_*3450{0} r.0 p.0 - pathogenic (recessive) g.(?_6357172)_(6420784_?)del g.(?_6499651)_(6563263_?)del deletion ANGPT2 - ANGPT2_000034 - PubMed: Leppanen 2020 - - De novo - - - - - Audrey Debue
-?/. - c.-80094T>G r.(?) p.(=) - likely benign g.6500549A>C - MCPH1(NM_024596.4):c.2487A>C (p.E829D) - MCPH1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-80089G>A r.(?) p.(=) - benign g.6500544C>T g.6643023C>T MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S) - MCPH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-80089G>A r.(?) p.(=) - benign g.6500544C>T g.6643023C>T MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S) - MCPH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-80089G>A r.(?) p.(=) - benign g.6500544C>T g.6643023C>T MCPH1(NM_024596.4):c.2482C>T (p.P828S), MCPH1(NM_024596.5):c.2482C>T (p.P828S) - MCPH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-80046G>A r.(?) p.(=) - benign g.6500501C>T g.6642980C>T MCPH1(NM_024596.4):c.2453-14C>T - MCPH1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-62008G>C r.(?) p.(=) - likely benign g.6482463C>G - MCPH1(NM_001322042.2):c.2499C>G (p.(Ile833Met)) - ANGPT2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.-58750C>T r.(?) p.(=) - likely pathogenic g.6479205G>A g.6621684G>A MCPH1(NM_024596.4):c.2445G>A (p.W815*) - MCPH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-58736G>A r.(?) p.(=) - likely benign g.6479191C>T g.6621670C>T MCPH1(NM_024596.4):c.2431C>T (p.L811=) - ANGPT2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58723G>T r.(?) p.(=) - benign g.6479178C>A g.6621657C>A MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=) - MCPH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-58723G>T r.(?) p.(=) - benign g.6479178C>A g.6621657C>A MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=) - MCPH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58723G>T r.(?) p.(=) - benign g.6479178C>A g.6621657C>A MCPH1(NM_024596.4):c.2418C>A (p.A806=), MCPH1(NM_024596.5):c.2418C>A (p.A806=) - MCPH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-58706T>C r.(?) p.(=) - likely benign g.6479161A>G g.6621640A>G MCPH1(NM_024596.4):c.2401A>G (p.S801G) - MCPH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58706T>C r.(?) p.(=) - benign g.6479161A>G g.6621640A>G MCPH1(NM_024596.4):c.2401A>G (p.S801G) - MCPH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-58705G>A r.(?) p.(=) - benign g.6479160C>T g.6621639C>T MCPH1(NM_024596.4):c.2400C>T (p.Y800=) - MCPH1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-58700G>A r.(?) p.(=) - likely benign g.6479155C>T g.6621634C>T MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S) - ANGPT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-58700G>A r.(?) p.(=) - likely benign g.6479155C>T - MCPH1(NM_024596.5):c.2395C>T (p.(Pro799Ser), p.P799S) - ANGPT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-58697C>A r.(?) p.(=) - VUS g.6479152G>T g.6621631G>T MCPH1(NM_024596.3):c.2392G>T (p.(Gly798Trp)) - ANGPT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-58667G>A r.(?) p.(=) - pathogenic g.6479122C>T - MCPH1(NM_024596.3):c.2362C>T (p.(Gln788*)) - ANGPT2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-58599G>C r.(?) p.(=) - VUS g.6479054C>G g.6621533C>G MCPH1(NM_024596.4):c.2294C>G (p.S765W) - ANGPT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58587G>A r.(?) p.(=) - benign g.6479042C>T g.6621521C>T MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V) - MCPH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-58587G>A r.(?) p.(=) - benign g.6479042C>T g.6621521C>T MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V) - MCPH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58587G>A r.(?) p.(=) - benign g.6479042C>T g.6621521C>T MCPH1(NM_024596.4):c.2282C>T (p.A761V), MCPH1(NM_024596.5):c.2282C>T (p.A761V) - MCPH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-58532C>T r.(?) p.(=) - likely benign g.6478987G>A g.6621466G>A MCPH1(NM_024596.3):c.2227G>A (p.(Glu743Lys)) - ANGPT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-58531G>A r.(?) p.(=) - benign g.6478986C>T g.6621465C>T MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=) - MCPH1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-58531G>A r.(?) p.(=) - benign g.6478986C>T g.6621465C>T MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=) - MCPH1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58531G>A r.(?) p.(=) - benign g.6478986C>T g.6621465C>T MCPH1(NM_024596.4):c.2226C>T (p.S742=), MCPH1(NM_024596.5):c.2226C>T (p.S742=) - MCPH1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-58527C>T r.(?) p.(=) - VUS g.6478982G>A - MCPH1(NM_001322042.1):c.2222G>A (p.R741Q) - ANGPT2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-58526G>A r.(?) p.(=) - pathogenic g.6478981C>T g.6621460C>T MCPH1(NM_024596.4):c.2221C>T (p.R741*) - ANGPT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-58526G>A r.(?) p.(=) - VUS g.6478981C>T - MCPH1(NM_024596.4):c.2221C>T (p.R741*) - ANGPT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-58505G>C r.(?) p.(=) - benign g.6478960C>G g.6621439C>G MCPH1(NM_024596.4):c.2215-15C>G - MCPH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58505G>C r.(?) p.(=) - benign g.6478960C>G g.6621439C>G MCPH1(NM_024596.4):c.2215-15C>G - MCPH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-58501T>C r.(?) p.(=) - benign g.6478956A>G g.6621435A>G MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G - MCPH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-58501T>C r.(?) p.(=) - benign g.6478956A>G g.6621435A>G MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G - MCPH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58501T>C r.(?) p.(=) - benign g.6478956A>G g.6621435A>G MCPH1(NM_024596.4):c.2215-19A>G, MCPH1(NM_024596.5):c.2215-19A>G - MCPH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.11T>C r.(?) p.(Ile4Thr) - VUS g.6420445A>G - ANGPT2(NM_001147.2):c.11T>C (p.(Ile4Thr)) - ANGPT2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.160C>T r.(?) p.(Arg54Cys) - VUS g.6420296G>A - ANGPT2(NM_001147.3):c.160C>T (p.R54C) - ANGPT2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.289-19T>C r.(=) p.(=) - benign g.6390027A>G g.6532506A>G ANGPT2(NM_001147.3):c.289-19T>C, MCPH1(NM_024596.5):c.2214+32577A>G - MCPH1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.408G>C r.(?) p.(Ala136=) - benign g.6389889C>G g.6532368C>G ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G - MCPH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.408G>C r.(?) p.(Ala136=) - benign g.6389889C>G g.6532368C>G ANGPT2(NM_001147.2):c.408G>C (p.A136=), ANGPT2(NM_001147.3):c.408G>C (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>G - MCPH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.408G>T r.(?) p.(Ala136=) - benign g.6389889C>A g.6532368C>A ANGPT2(NM_001147.3):c.408G>T (p.A136=), MCPH1(NM_024596.5):c.2214+32439C>A - MCPH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.557A>G r.(557_566del) p.0? - pathogenic (recessive) g.6385085T>C g.6527564T>C NM_001147.2:c.557A>G - ANGPT2_000033 - PubMed: Smeland 2021 - - Germline - - - - - Audrey Debue
+/. - c.557A>G r.(557_566del) p.0? - pathogenic (recessive) g.6385085T>C g.6527564T>C NM_001147.2:c.557A>G - ANGPT2_000033 - PubMed: Smeland 2021 - - Germline - - - - - Audrey Debue
+/. - c.557A>G r.(557_566del) p.0? - pathogenic (recessive) g.6385085T>C g.6527564T>C NM_001147.2:c.557A>G - ANGPT2_000033 - PubMed: Smeland 2021 - - Germline - - - - - Audrey Debue
+/. - c.557A>G r.(557_566del) p.0? - pathogenic (recessive) g.6385085T>C g.6527564T>C NM_001147.2:c.557A>G - ANGPT2_000033 - PubMed: Smeland 2021 - - Germline - - - - - Audrey Debue
+/. - c.557A>G r.0 p.0 - pathogenic (recessive) g.6385085T>C g.6527564T>C - - ANGPT2_000033 - PubMed: Smeland 2021 - - Germline - - - - - Johan den Dunnen
+/. - c.557A>G r.[0,557_566del] p.[0,Asp186Valdelfs*3] - pathogenic (recessive) g.6385085T>C g.6527564T>C - - ANGPT2_000033 - PubMed: Smeland 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.557A>G r.[0,557_566del] p.[0,Asp186Valdelfs*3] - pathogenic (recessive) g.6385085T>C g.6527564T>C - - ANGPT2_000033 - PubMed: Smeland 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.557A>G r.[0,557_566del] p.[0,Asp186Valdelfs*3] - pathogenic (recessive) g.6385085T>C g.6527564T>C - - ANGPT2_000033 - PubMed: Smeland 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.557A>G r.[0,557_566del] p.[0,Asp186Valdelfs*3] - pathogenic (recessive) g.6385085T>C g.6527564T>C - - ANGPT2_000033 - PubMed: Smeland 2023 - - Germline yes - - - - Johan den Dunnen
-/. - c.714G>T r.(?) p.(Thr238=) - benign g.6378784C>A g.6521263C>A ANGPT2(NM_001147.3):c.714G>T (p.T238=), MCPH1(NM_024596.5):c.2214+21334C>A - MCPH1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.735G>A r.(?) p.(Gln245=) - benign g.6378763C>T g.6521242C>T ANGPT2(NM_001147.3):c.735G>A (p.Q245=), MCPH1(NM_024596.5):c.2214+21313C>T - MCPH1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.770A>T r.(?) p.(Asn257Ile) - likely benign g.6378728T>A - ANGPT2(NM_001147.3):c.770A>T (p.N257I) - ANGPT2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.799+8T>C r.(=) p.(=) - benign g.6378691A>G - ANGPT2(NM_001147.3):c.799+8T>C, MCPH1(NM_001322042.2):c.2214+21241A>G - ANGPT2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.879G>A r.(?) p.(Thr293=) - benign g.6377433C>T g.6519912C>T ANGPT2(NM_001147.3):c.882G>A (p.T294=), MCPH1(NM_024596.5):c.2214+19983C>T - MCPH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.879G>A r.897g>a p.Thr294= - benign g.6377433C>T - NM_001147.2:c.882G>A - MCPH1_000039 - PubMed: Smeland 2021 - - Germline - - - - - Johan den Dunnen
-?/. - c.879G>A - - - likely benign g.6377433C>T g.6519912C>T - - MCPH1_000039 - PubMed: Smeland 2023 - - Germline - - - - - Johan den Dunnen
-?/. - c.879G>A - - - likely benign g.6377433C>T g.6519912C>T - - MCPH1_000039 - PubMed: Smeland 2023 - - Germline - - - - - Johan den Dunnen
-?/. - c.879G>A - - - likely benign g.6377433C>T g.6519912C>T - - MCPH1_000039 - PubMed: Smeland 2023 - - Germline - - - - - Johan den Dunnen
-?/. - c.879G>A - - - likely benign g.6377433C>T g.6519912C>T - - MCPH1_000039 - PubMed: Smeland 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.893C>T r.(?) p.(Thr298Met) - pathogenic (recessive) g.6377419G>A g.6519898G>A NM_001147.2:c.896C>T - ANGPT2_000038 - PubMed: Leppanen 2020 - - Germline - - - - - Audrey Debue
+/. - c.909T>A r.(?) p.(Asn303Lys) - pathogenic (recessive) g.6377403A>T g.6519882A>T NM_001147.2:c.912T>A - ANGPT2_000037 - PubMed: Leppanen 2020 - - Germline - - - - - Audrey Debue
-?/. - c.909T>A r.(?) p.(Asn303Lys) - likely benign g.6377403A>T - MCPH1(NM_024596.3):c.2214+19953A>T (p.?) - ANGPT2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.994G>A r.(?) p.(Val332Ile) - likely benign g.6372233C>T - ANGPT2(NM_001118887.2):c.994G>A (p.(Val332Ile)) - ANGPT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1092T>C r.(?) p.(Asn364=) - benign g.6371303A>G - ANGPT2(NM_001147.3):c.1095T>C (p.N365=), MCPH1(NM_001322042.2):c.2214+13853A>G - ANGPT2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1104T>C r.(?) p.(Tyr368=) - benign g.6371291A>G g.6513770A>G ANGPT2(NM_001147.3):c.1107T>C (p.Y369=), MCPH1(NM_024596.5):c.2214+13841A>G - MCPH1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1155G>C r.(?) p.(Leu385Phe) - benign g.6371240C>G - ANGPT2(NM_001147.3):c.1158G>C (p.L386F) - ANGPT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1301G>C r.(?) p.(Cys434Ser) - pathogenic (recessive) g.6366479C>G g.6508958C>G NM_001147.2:c.1304G>C - ANGPT2_000036 - PubMed: Leppanen 2020 - - Germline - - - - - Audrey Debue
?/. - c.1457C>A r.(?) p.(Thr486Lys) - VUS g.6360653G>T - ANGPT2(NM_001147.3):c.1460C>A (p.T487K) - ANGPT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1472G>A r.(?) p.(Arg491Gln) - pathogenic (recessive) g.6360638C>T g.6503117C>T NM_001147.2:c.1475G>A - ANGPT2_000035 - PubMed: Leppanen 2020 - - Germline - - - - - Audrey Debue
?/. - c.*3176G>C r.(=) p.(=) - VUS g.6357446C>G g.6499925C>G MCPH1(NM_024596.4):c.2210C>G (p.A737G) - MCPH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3184G>T r.(=) p.(=) - VUS g.6357438C>A - MCPH1(NM_024596.5):c.2202C>A (p.F734L) - ANGPT2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*3206G>A r.(=) p.(=) - VUS g.6357416C>T g.6499895C>T MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L) - ANGPT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3206G>A r.(=) p.(=) - VUS g.6357416C>T - MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L) - ANGPT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*3206G>A r.(=) p.(=) - VUS g.6357416C>T - MCPH1(NM_024596.4):c.2180C>T (p.P727L), MCPH1(NM_024596.5):c.2180C>T (p.(Pro727Leu), p.P727L) - ANGPT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.*3241C>T r.(=) p.(=) - pathogenic g.6357381G>A g.6499860G>A MCPH1(NM_001322042.1):c.2145G>A (p.W715*) - ANGPT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*22235G>A r.(=) p.(=) - VUS g.6338387C>T - MCPH1(NM_024596.5):c.2126C>T (p.(Ser709Phe)) - ANGPT2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*22268A>C r.(=) p.(=) - VUS g.6338354T>G - MCPH1(NM_024596.5):c.2093T>G (p.(Leu698Arg)) - ANGPT2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*22283C>T r.(=) p.(=) - VUS g.6338339G>A - MCPH1(NM_024596.5):c.2078G>A (p.(Arg693His)) - ANGPT2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*22284G>A r.(=) p.(=) - VUS g.6338338C>T - MCPH1(NM_024596.5):c.2077C>T (p.(Arg693Cys)) - ANGPT2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*22316G>T r.(=) p.(=) - benign g.6338306C>A g.6480785C>A MCPH1(NM_024596.4):c.2045C>A (p.T682N) - MCPH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*22316G>T r.(=) p.(=) - benign g.6338306C>A g.6480785C>A MCPH1(NM_024596.4):c.2045C>A (p.T682N) - MCPH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*22338T>C r.(=) p.(=) - likely benign g.6338284A>G g.6480763A>G MCPH1(NM_024596.3):c.2023A>G (p.(Ile675Val)) - ANGPT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*22374C>T r.(=) p.(=) - VUS g.6338248G>A g.6480727G>A MCPH1(NM_024596.3):c.1987G>A (p.(Val663Ile)) - ANGPT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*25485G>C r.(=) p.(=) - VUS g.6335137C>G - MCPH1(NM_024596.5):c.1958C>G (p.T653R) - ANGPT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*57553C>G r.(=) p.(=) - likely benign g.6303069G>C - MCPH1(NM_001322045.1):c.1724G>C (p.S575T) - MCPH1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57594A>G r.(=) p.(=) - likely benign g.6303028T>C g.6445507T>C MCPH1(NM_001322042.1):c.1785T>C (p.S595=) - ANGPT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*57597C>T r.(=) p.(=) - benign g.6303025G>A g.6445504G>A MCPH1(NM_024596.4):c.1782G>A (p.T594=) - MCPH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*57597C>T r.(=) p.(=) - benign g.6303025G>A g.6445504G>A MCPH1(NM_024596.4):c.1782G>A (p.T594=) - MCPH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*57598G>A r.(=) p.(=) - likely benign g.6303024C>T g.6445503C>T MCPH1(NM_024596.4):c.1781C>T (p.T594M) - MCPH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57600C>G r.(=) p.(=) - likely benign g.6303022G>C g.6445501G>C MCPH1(NM_024596.4):c.1779G>C (p.E593D) - ANGPT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57651G>A r.(=) p.(=) - likely benign g.6302971C>T g.6445450C>T MCPH1(NM_024596.4):c.1728C>T (p.G576=) - MCPH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*57651G>A r.(=) p.(=) - benign g.6302971C>T g.6445450C>T MCPH1(NM_024596.4):c.1728C>T (p.G576=) - MCPH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*57660G>A r.(=) p.(=) - benign g.6302962C>T g.6445441C>T MCPH1(NM_024596.4):c.1719C>T (p.S573=) - MCPH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*57660G>A r.(=) p.(=) - benign g.6302962C>T g.6445441C>T MCPH1(NM_024596.4):c.1719C>T (p.S573=) - MCPH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*57700C>A r.(=) p.(=) - VUS g.6302922G>T g.6445401G>T MCPH1(NM_024596.4):c.1679G>T (p.S560I) - MCPH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57790T>A r.(=) p.(=) - likely benign g.6302832A>T g.6445311A>T MCPH1(NM_024596.4):c.1589A>T (p.E530V) - ANGPT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57828G>A r.(=) p.(=) - likely benign g.6302794C>T g.6445273C>T MCPH1(NM_024596.4):c.1551C>T (p.D517=) - MCPH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57886C>G r.(=) p.(=) - likely benign g.6302736G>C g.6445215G>C MCPH1(NM_001322042.1):c.1493G>C (p.C498S) - ANGPT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*57902G>A r.(=) p.(=) - likely benign g.6302720C>T g.6445199C>T MCPH1(NM_024596.4):c.1477C>T (p.R493C) - ANGPT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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