Full data view for gene AP4M1

Information The variants shown are described using the NM_004722.3 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.-12092dup r.(?) p.(=) Unknown - VUS g.99687246dup - COPS6(NM_006833.4):c.211dupG (p.(Ala71fs)) - AP4M1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5591C>G r.(?) p.(=) Unknown - likely benign g.99693747C>G - MCM7(NM_001278595.1):c.717G>C (p.T239=) - AP4M1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3551T>C r.(?) p.(=) Unknown - likely benign g.99695787T>C - MCM7(NM_005916.4):c.847A>G (p.(Thr283Ala)) - AP4M1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3114G>A r.(?) p.(=) Unknown - VUS g.99696224G>A g.100098601G>A MCM7(NM_001278595.1):c.169C>T (p.(Gln57Ter)) - MCM7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2310T>A r.(?) p.(=) Unknown - likely benign g.99697028T>A g.100099405T>A MCM7(NM_001278595.1):c.-327-2A>T (p.(=)) - AP4M1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1656C>A r.(?) p.(=) Unknown - VUS g.99697682C>A - MCM7(NM_005916.4):c.66G>T (p.Q22H) - AP4M1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-169A>T r.(?) p.(=) Unknown - benign g.99699169A>T g.100101546A>T - - AP4M1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.32del r.(?) p.(Lys11Argfs*27) Maternal (confirmed) - likely pathogenic g.99699369del g.100101746del 32delA - AP4M1_000039 - - - - Germline - - - - - DNA SEQ-NG-IT - WES SPG50; CPSQ3 Patient 1 - - M no Spain White 12y - - - 1 Alejandro Brea-Fernández
-/. - c.58+12C>T r.(=) p.(=) Unknown - benign g.99699407C>T g.100101784C>T - - AP4M1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59-14C>G r.(=) p.(=) Unknown - benign g.99699489C>G g.100101866C>G AP4M1(NM_004722.3):c.59-14C>G - AP4M1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.59-1G>C r.spl p.? Parent #1 - pathogenic g.99699502G>C g.100101879G>C - - AP4M1_000057 - PubMed: Ganapathy 2019 - rs761873506 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3469 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.136C>G r.(?) p.(Pro46Ala) Unknown - VUS g.99699580C>G g.100101957C>G AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>G r.(?) p.(Pro46Ala) Unknown - VUS g.99699580C>G - AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>G r.(?) p.(Pro46Ala) Unknown - VUS g.99699580C>G - AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147+35T>C r.(=) p.(=) Unknown - benign g.99699626T>C g.100102003T>C AP4M1(NM_004722.4):c.147+35T>C - AP4M1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.194_195del r.194_195del p.Tyr65Phefs*50 Both (homozygous) - pathogenic g.99700344_99700345del g.100102721_100102722del 194_195delAT - AP4M1_000002 whole exome sequencing; not in 400 control chromosomes; mRNA expression 0.33 PubMed: Jameel 2014, Journal: Jameel 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CP - PubMed: Jameel 2014, Journal: Jameel 2014 4-generation family, 2 affected bothers, unaffected heterozygous carriers M yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.228C>T r.(?) p.(Pro76=) Unknown - likely benign g.99700378C>T g.100102755C>T AP4M1(NM_004722.3):c.228C>T (p.P76=) - AP4M1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255-16C>T r.(=) p.(=) Unknown - benign g.99700471C>T g.100102848C>T AP4M1(NM_004722.3):c.255-16C>T - AP4M1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.259del r.(?) p.(Ala87ProfsTer44) Both (homozygous) ACMG pathogenic (recessive) g.99700491del g.100102868del - - AP4M1_000061 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M065 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
?/. - c.294C>T r.(?) p.(Gly98=) Unknown - VUS g.99700526C>T g.100102903C>T AP4M1(NM_004722.3):c.294C>T (p.G98=) - AP4M1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Val152Ile) Unknown - VUS g.99701134G>A - AP4M1(NM_004722.3):c.454G>A (p.(Val152Ile)) - AP4M1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491T>C r.(?) p.(Val164Ala) Unknown - VUS g.99701263T>C - AP4M1(NM_004722.3):c.491T>C (p.V164A) - AP4M1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502A>C r.(?) p.(Ser168Arg) Unknown - likely benign g.99701274A>C g.100103651A>C AP4M1(NM_004722.3):c.502A>C (p.(Ser168Arg)) - AP4M1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520G>A r.(?) p.(Val174Ile) Unknown - VUS g.99701292G>A - AP4M1(NM_004722.4):c.520G>A (p.(Val174Ile)) - AP4M1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.541C>T r.(?) p.(Gln181Ter) Unknown - pathogenic g.99701313C>T g.100103690C>T - - AP4M1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543+5G>A r.spl? p.? Unknown - likely benign g.99701320G>A g.100103697G>A AP4M1(NM_004722.3):c.543+5G>A - AP4M1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544-6T>G r.(=) p.(=) Unknown - VUS g.99701709T>G g.100104086T>G AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G - AP4M1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544-6T>G r.(=) p.(=) Unknown - VUS g.99701709T>G g.100104086T>G AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G - AP4M1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Gln183Ter) Unknown - pathogenic g.99701718C>T g.100104095C>T - - AP4M1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.577G>A r.(?) p.(Glu193Lys) Both (homozygous) ACMG pathogenic (recessive) g.99701748G>A g.100104125G>A - - AP4M1_000062 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8800050 PubMed: Hu 2019 family, 2 affected individuals, double cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
+/. - c.577G>A r.(?) p.(Glu193Lys) Both (homozygous) ACMG pathogenic (recessive) g.99701748G>A g.100104125G>A - - AP4M1_000062 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8800140 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
?/. - c.608G>A r.(?) p.(Gly203Glu) Unknown - VUS g.99702498G>A g.100104875G>A AP4M1(NM_004722.4):c.608G>A (p.(Gly203Glu)) - AP4M1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666C>T r.(?) p.(Ser222=) Unknown - likely benign g.99702556C>T g.100104933C>T AP4M1(NM_004722.3):c.666C>T (p.S222=) - AP4M1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.673+3G>T r.spl? p.? Unknown - likely pathogenic g.99702566G>T g.100104943G>T - - AP4M1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674-6C>T r.(=) p.(=) Unknown - likely benign g.99702662C>T g.100105039C>T AP4M1(NM_004722.3):c.674-6C>T (p.(=)) - AP4M1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714G>A r.(?) p.(Lys238=) Unknown - likely benign g.99702708G>A g.100105085G>A AP4M1(NM_004722.3):c.714G>A (p.K238=) - AP4M1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728-2A>C r.spl? p.? Unknown - VUS g.99702861A>C - AP4M1(NM_004722.3):c.728-2A>C (p.?) - AP4M1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761C>T r.(?) p.(Ser254Leu) Unknown - VUS g.99702896C>T g.100105273C>T AP4M1(NM_004722.3):c.761C>T (p.(Ser254Leu)) - AP4M1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>T r.(?) p.(Ser257=) Unknown - likely benign g.99702906C>T - AP4M1(NM_004722.3):c.771C>T (p.S257=) - AP4M1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.812G>A r.(?) p.(Arg271His) Unknown - benign g.99702947G>A g.100105324G>A AP4M1(NM_004722.3):c.812G>A (p.R271H) - AP4M1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824C>T r.(?) p.(Pro275Leu) Unknown - VUS g.99702959C>T - AP4M1(NM_004722.4):c.824C>T (p.(Pro275Leu)) - AP4M1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.901delT r.(?) p.(Ser301LeufsTer15) Parent #2 - pathogenic g.99703134del g.100105511del - - AP4M1_000058 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3469 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.916C>T r.(?) p.(Arg306Ter) Unknown - pathogenic g.99703149C>T g.100105526C>T - - AP4M1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.920G>C r.(?) p.(Gly307Ala) Unknown - VUS g.99703153G>C g.100105530G>C AP4M1(NM_004722.3):c.920G>C (p.G307A) - AP4M1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.920G>C r.(?) p.(Gly307Ala) Unknown - VUS g.99703153G>C - AP4M1(NM_004722.3):c.920G>C (p.G307A) - AP4M1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>A r.(?) p.(Arg310=) Unknown - likely benign g.99703582G>A g.100105959G>A AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=) - AP4M1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>A r.(?) p.(Arg310=) Unknown - likely benign g.99703582G>A - AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=) - AP4M1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.952C>T r.(?) p.(Arg318*) Both (homozygous) - pathogenic g.99703604C>T g.100105981C>T - - AP4M1_000004 - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CP - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 6-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents - yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.952C>T r.(?) p.(Arg318Ter) Unknown - pathogenic g.99703604C>T g.100105981C>T AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952C>T r.(?) p.(Arg318*) Both (homozygous) - pathogenic (recessive) g.99703604C>T g.100105981C>T - - AP4M1_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam11DG1767 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.952C>T r.(?) p.(Arg318Ter) Unknown - pathogenic g.99703604C>T - AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952C>T r.(?) p.(Arg318*) Both (homozygous) ACMG pathogenic g.99703604C>T g.100105981C>T - - AP4M1_000004 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG1767 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.952C>T r.(?) p.(Arg318Ter) Unknown - pathogenic g.99703604C>T - AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953G>A r.(?) p.(Arg318Gln) Unknown - VUS g.99703605G>A g.100105982G>A AP4M1(NM_004722.3):c.953G>A (p.R318Q) - AP4M1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.955T>C r.(?) p.(Cys319Arg) Paternal (confirmed) - likely pathogenic g.99703607T>C g.100105984T>C - - AP4M1_000040 - - - - Germline - - - - - DNA SEQ-NG-IT - WES SPG50; CPSQ3 Patient 1 - - M no Spain White 12y - - - 1 Alejandro Brea-Fernández
+?/. - c.955T>C r.(?) p.(Cys319Arg) Unknown - likely pathogenic g.99703607T>C - AP4M1(NM_004722.4):c.955T>C (p.C319R) - AP4M1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960C>T r.(?) p.(Asp320=) Unknown - likely benign g.99703612C>T - AP4M1(NM_004722.3):c.960C>T (p.D320=) - AP4M1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.974+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.99703627G>A g.100106004G>A - - AP4M1_000063 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600014 PubMed: Hu 2019 family, 2 affected individuals - - - Turkmenistan - - - - 2 Johan den Dunnen
-/. - c.975-14C>T r.(=) p.(=) Unknown - benign g.99703850C>T g.100106227C>T AP4M1(NM_004722.3):c.975-14C>T - AP4M1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Leu334=) Unknown - likely benign g.99703891C>T g.100106268C>T AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=)) - AP4M1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1002C>T r.(?) p.(Leu334=) Unknown - benign g.99703891C>T - AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=)) - AP4M1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1012C>T r.(?) p.(Arg338*) Both (homozygous) - pathogenic g.99703901C>T g.100106278C>T - - AP4M1_000003 - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CP - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 5-generation family, 2 affected sisters, unaffected heterozygous carriers F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) Unknown - pathogenic g.99703901C>T g.100106278C>T AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1012C>T r.(?) p.(Arg338Ter) Unknown - pathogenic g.99703901C>T g.100106278C>T AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1012C>T r.(?) p.(Arg338Ter) Both (homozygous) - likely pathogenic (recessive) g.99703901C>T g.100106278C>T - - AP4M1_000003 - PubMed: Duerinckx 2017, PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly patient;Pat2 PubMed: Duerinckx 2017, PubMed: Duerinckx 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338Ter) Unknown - pathogenic g.99703901C>T - AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060G>A r.(?) p.(Ala354Thr) Unknown - VUS g.99704060G>A - AP4M1(NM_004722.3):c.1060G>A (p.A354T) - AP4M1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1100G>A r.(?) p.(Arg367Gln) Unknown - VUS g.99704100G>A g.100106477G>A - - AP4M1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 14i c.1137+1G>T r.1026_1137del p.Ser342fs Both (homozygous) - pathogenic g.99704138G>T g.100106515G>T - - AP4M1_000001 not in 448 control chromosomes PubMed: Verkerk 2009 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - CP - PubMed: Verkerk 2009 4-generation family, 5 affecteds, unaffacted carrier parents - yes Netherlands Morrocan - - - - 5 Johan den Dunnen
+/. - c.1137+1G>T r.spl? p.? Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1137+1G>T r.spl? p.? Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1137+1G>T r.spl? p.? Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1137+1G>T r.spl? p.? Unknown - pathogenic g.99704138G>T - AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1137+1G>T r.spl? p.? Unknown - pathogenic g.99704138G>T - AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137+16C>T r.(=) p.(=) Unknown - likely benign g.99704153C>T g.100106530C>T AP4M1(NM_004722.3):c.1137+16C>T - AP4M1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140G>A r.(?) p.(Met380Ile) Unknown - likely benign g.99704283G>A g.100106660G>A AP4M1(NM_004722.3):c.1140G>A (p.M380I) - AP4M1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1264C>T r.(?) p.(Arg422Ter) Unknown - pathogenic g.99704407C>T g.100106784C>T - - AP4M1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1287del r.(?) p.(Arg429Serfs*15) Both (homozygous) - likely pathogenic (recessive) g.99704430del g.100106807del - - AP4M1_000056 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR79 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
-/. - c.1305C>T r.(?) p.(Asn435=) Unknown - benign g.99704448C>T g.100106825C>T AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=)) - AP4M1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305C>T r.(=) p.(=) Parent #1 - benign g.99704448C>T g.100106825C>T - - AP4M1_000025 121 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4134932 Germline - 121/2786 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 121 Mohammed Faruq
-/. - c.1305C>T r.(=) p.(=) Both (homozygous) - benign g.99704448C>T g.100106825C>T - - AP4M1_000025 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4134932 Germline - 1/2786 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1305C>T r.(?) p.(Asn435=) Unknown - likely benign g.99704448C>T - AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=)) - AP4M1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1317G>A r.(?) p.(Trp439Ter) Unknown - pathogenic g.99704460G>A g.100106837G>A AP4M1(NM_004722.3):c.1317G>A (p.W439*) - AP4M1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322G>A r.(?) p.(Arg441Gln) Unknown - VUS g.99704465G>A g.100106842G>A AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln)) - AP4M1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322G>A r.(?) p.(Arg441Gln) Unknown - VUS g.99704465G>A - AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln)) - AP4M1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1344C>T r.(?) p.(Ala448=) Unknown - likely benign g.99704487C>T g.100106864C>T AP4M1(NM_004722.3):c.1344C>T (p.A448=) - AP4M1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*477T>C r.(=) p.(=) Unknown - VUS g.99704982T>C g.100107359T>C TAF6(NM_001190415.1):c.2032A>G (p.(Ser678Gly)) - TAF6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*654C>T r.(=) p.(=) Unknown - VUS g.99705159C>T - AP4M1(NM_004722.4):c.*654C>T - AP4M1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*692G>A r.(=) p.(=) Unknown - VUS g.99705197G>A g.100107574G>A TAF6(NM_001190415.1):c.1817C>T (p.(Ser606Leu)) - TAF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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