Full data view for gene AP4E1

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

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

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+/? - c.-152788_1316+523del r.? p.? Both (homozygous) - pathogenic g.51048188_51240879del g.50755991_50948682del hg18:g.48835480_49028171del - AP4E1_000003 - PubMed: Moreno-De-Luca 2011 - - Germline yes - - - - DNA arrayCGH - - ID - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents F yes Jordan Palestine - - - - 1 Johan den Dunnen
+/. - c.-152788_1316+523del r.? p.? Both (homozygous) - pathogenic g.51048188_51240879del g.50755991_50948682del hg18:g.48835480_49028171del - AP4E1_000003 - PubMed: Moreno-De-Luca 2011 - - Germline yes - - - - DNA arrayCGH - - ID - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - - - - 1 Johan den Dunnen
+/? - c.-152788_1316+523del r.? p.? Both (homozygous) - pathogenic g.51048188_51240879del g.50755991_50948682del - - AP4E1_000003 - - - - Germline yes - - - - DNA arrayCGH - - ID - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - - - - 1 Johan den Dunnen
+/? - c.-152788_1316+523del r.? p.? Both (homozygous) - pathogenic g.51048188_51240879del g.50755991_50948682del - - AP4E1_000003 - - - - Germline yes - - - - DNA arrayCGH - - ID - PubMed: Moreno-De-Luca 2011 4-generation family, 2 affecteds, unaffected carrier parents M yes Jordan Palestine - - - - 1 Johan den Dunnen
+?/. 1i c.151-542G>A r.[150_151ins151-574_151-433,150_151ins151-574_151-537] p.[Glu51MetfsTer47,Glu51MetfsTer18] Parent #1 - likely pathogenic (recessive) g.51203733G>A g.50911536G>A - - AP4E1_000075 intron variant activates cryptic exons PubMed: Oquendo 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Oquendo 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.165A>G r.(?) p.(Leu55=) Unknown - likely benign g.51204289A>G g.50912092A>G AP4E1(NM_007347.4):c.165A>G (p.L55=) - AP4E1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Gln57=) Unknown - likely benign g.51204295G>A g.50912098G>A AP4E1(NM_007347.4):c.171G>A (p.Q57=), AP4E1(NM_007347.5):c.171G>A (p.Q57=) - AP4E1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171G>A r.(?) p.(Gln57=) Unknown - benign g.51204295G>A - AP4E1(NM_007347.4):c.171G>A (p.Q57=), AP4E1(NM_007347.5):c.171G>A (p.Q57=) - AP4E1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219A>G r.(?) p.(Thr73=) Unknown - likely benign g.51204343A>G - AP4E1(NM_007347.4):c.219A>G (p.T73=) - AP4E1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222+18G>A r.(=) p.(=) Unknown - benign g.51204364G>A g.50912167G>A AP4E1(NM_001252127.2):c.-27+18G>A, AP4E1(NM_007347.4):c.222+18G>A - AP4E1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222+18G>A r.(=) p.(=) Unknown - benign g.51204364G>A g.50912167G>A AP4E1(NM_001252127.2):c.-27+18G>A, AP4E1(NM_007347.4):c.222+18G>A - AP4E1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258T>C r.(?) p.(Tyr86=) Unknown - likely benign g.51207680T>C g.50915483T>C AP4E1(NM_001252127.1):c.33T>C (p.Y11=) - AP4E1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.267G>A r.(?) p.(Met89Ile) Unknown - VUS g.51207689G>A - AP4E1(NM_007347.5):c.267G>A (p.(Met89Ile)) - AP4E1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275A>G r.(?) p.(Tyr92Cys) Unknown - VUS g.51207697A>G g.50915500A>G AP4E1(NM_007347.4):c.275A>G (p.Y92C) - AP4E1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420+9T>C r.(=) p.(=) Unknown - likely benign g.51216210T>C g.50924013T>C AP4E1(NM_007347.4):c.420+9T>C - AP4E1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.421-20T>C r.(=) p.(=) Unknown - likely benign g.51217275T>C g.50925078T>C AP4E1(NM_007347.4):c.421-20T>C - AP4E1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.487T>C r.(?) p.(Cys163Arg) Unknown - benign g.51217361T>C g.50925164T>C AP4E1(NM_001252127.2):c.262T>C (p.C88R), AP4E1(NM_007347.4):c.487T>C (p.C163R) - AP4E1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.487T>C r.(?) p.(Cys163Arg) Unknown - benign g.51217361T>C g.50925164T>C AP4E1(NM_001252127.2):c.262T>C (p.C88R), AP4E1(NM_007347.4):c.487T>C (p.C163R) - AP4E1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.542+5_542+8del r.spl? p.? Both (homozygous) - pathogenic g.51217421_51217424del g.50925224_50925227del NM_007347.4:c.542+1_542+4del - AP4E1_000001 not in 740 control chromosomesc.317+1_317+4del PubMed: Abou Jamra 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Abou Jamra 2011 3-generation family, 2 affecteds, unaffacted carrier parents M yes Syria - - - - - 1 Johan den Dunnen
+/? - c.542+5_542+8del r.spl? p.? Both (homozygous) - pathogenic g.51217421_51217424del g.50925224_50925227del - - AP4E1_000001 not in 740 control chromosomes PubMed: Abou Jamra 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ID - - 3-generation family, 2 affecteds, unaffected carrier parents F yes Syria - - - - - 1 Johan den Dunnen
?/. - c.560A>G r.(?) p.(Lys187Arg) Unknown - VUS g.51221223A>G - AP4E1(NM_007347.5):c.560A>G (p.(Lys187Arg)) - AP4E1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.567del r.567del p.Leu190TrpfsTer43 Parent #2 - pathogenic (recessive) g.51221230del g.50929033del - - AP4E1_000076 - PubMed: Oquendo 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Oquendo 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.613C>A r.(?) p.(His205Asn) Unknown - VUS g.51221276C>A - AP4E1(NM_007347.5):c.613C>A (p.H205N) - AP4E1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>T r.(?) p.(Glu235Asp) Unknown - likely benign g.51223004G>T - AP4E1(NM_007347.4):c.705G>T (p.(Glu235Asp)) - AP4E1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710C>T r.(?) p.(Ser237Leu) Unknown - VUS g.51223009C>T - - - AP4E1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>T r.(?) p.(Gly239Val) Unknown - VUS g.51223015G>T g.50930818G>T AP4E1(NM_001252127.1):c.491G>T (p.(Gly164Val)) - AP4E1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>G r.(?) p.(Gln253Glu) Unknown - VUS g.51223056C>G - AP4E1(NM_001252127.1):c.532C>G (p.Q178E) - AP4E1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822A>G r.(?) p.(Gln274=) Unknown - likely benign g.51223121A>G - AP4E1(NM_001252127.1):c.597A>G (p.Q199=), AP4E1(NM_007347.5):c.822A>G (p.(Gln274=)) - AP4E1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822A>G r.(?) p.(Gln274=) Unknown - likely benign g.51223121A>G - AP4E1(NM_001252127.1):c.597A>G (p.Q199=), AP4E1(NM_007347.5):c.822A>G (p.(Gln274=)) - AP4E1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852A>G r.(?) p.(Leu284=) Unknown - likely benign g.51223151A>G g.50930954A>G AP4E1(NM_007347.4):c.852A>G (p.L284=) - AP4E1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889G>T r.(?) p.(Asp297Tyr) Unknown - VUS g.51226840G>T g.50934643G>T AP4E1(NM_007347.4):c.889G>T (p.D297Y) - AP4E1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.910C>T r.(?) p.(Arg304Ter) Unknown - pathogenic g.51226861C>T g.50934664C>T AP4E1(NM_001252127.2):c.685C>T (p.R229*) - AP4E1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036C>A r.(?) p.(Leu346Met) Unknown - VUS g.51233731C>A g.50941534C>A AP4E1(NM_007347.4):c.1036C>A (p.L346M) - AP4E1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1036_1037del r.(?) p.(Leu346Valfs*3) Both (homozygous) ACMG likely pathogenic g.51233731_51233732del g.50941534_50941535del - - AP4E1_000004 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - SPG51 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.1067-9T>C r.(=) p.(=) Unknown - likely benign g.51233854T>C - AP4E1(NM_007347.5):c.1067-9T>C - AP4E1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105A>C r.(?) p.(Thr369Pro) Unknown - VUS g.51233901A>C g.50941704A>C AP4E1(NM_007347.4):c.1105A>C (p.T369P) - AP4E1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1129A>G r.(?) p.(Thr377Ala) Unknown - VUS g.51233925A>G - AP4E1(NM_007347.5):c.1129A>G (p.(Thr377Ala)) - AP4E1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176+9G>A r.(=) p.(=) Unknown - likely benign g.51233981G>A g.50941784G>A AP4E1(NM_001252127.1):c.951+9G>A - AP4E1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1177-9T>C r.(=) p.(=) Unknown - benign g.51240208T>C g.50948011T>C AP4E1(NM_001252127.2):c.952-9T>C, AP4E1(NM_007347.4):c.1177-9T>C - AP4E1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177-9T>C r.(=) p.(=) Unknown - likely benign g.51240208T>C - AP4E1(NM_001252127.2):c.952-9T>C, AP4E1(NM_007347.4):c.1177-9T>C - AP4E1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199T>C r.(?) p.(Ile400Thr) Unknown - VUS g.51240239T>C - AP4E1(NM_001252127.1):c.974T>C (p.I325T) - AP4E1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276A>C r.(?) p.(Ile426Leu) Unknown - VUS g.51240316A>C g.50948119A>C AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L) - AP4E1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276A>C r.(?) p.(Ile426Leu) Unknown - VUS g.51240316A>C - AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L) - AP4E1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1276A>C r.(?) p.(Ile426Leu) Unknown - likely benign g.51240316A>C - AP4E1(NM_001252127.1):c.1051A>C (p.I351L), AP4E1(NM_007347.5):c.1276A>C (p.(Ile426Leu), p.I426L) - AP4E1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276A>G r.(?) p.(Ile426Val) Unknown - VUS g.51240316A>G g.50948119A>G AP4E1(NM_001252127.2):c.1051A>G (p.I351V) - AP4E1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1316+6C>G r.(?) p.? Unknown - pathogenic g.51240362C>G g.50948165C>G - - AP4E1_000069 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.1336T>C r.(?) p.(Trp446Arg) Unknown - VUS g.51242042T>C g.50949845T>C AP4E1(NM_007347.4):c.1336T>C (p.W446R) - AP4E1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349C>A r.(?) p.(Thr450Lys) Unknown - VUS g.51242055C>A g.50949858C>A AP4E1(NM_001252127.1):c.1124C>A (p.(Thr375Lys)) - AP4E1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1350_1357del r.(?) p.(Met451Cysfs*12) Unknown - pathogenic g.51242056_51242063del - AP4E1(NM_007347.5):c.1350_1357delAATGAATG (p.M451Cfs*12) - AP4E1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? - c.1391_1401del r.(?) p.(Pro464Glnfs*2) Unknown - benign g.51242097_51242107del g.50949900_50949910del NM_007347.4:c.1346+44_1346+54del - AP4E1_000002 intron 11 - - - Germline ? - - - - DNA SEQ - - ID - PubMed: Abou Jamra 2011 family ? yes Syria - - - - - 1 Johan den Dunnen
-/? - c.1391_1401del r.(?) p.(Pro464Glnfs*2) Unknown - benign g.51242097_51242107del g.50949900_50949910del NM_007347.4:c.1346+44_1346+54del - AP4E1_000002 intron 11; tested 320 control chromosomes PubMed: Abou Jamra 2011 - - Germline no 0.20 - - - DNA SEQ - - Healthy/Control - PubMed: Abou Jamra 2011 - - - Syria - - - - - 160 Johan den Dunnen
-?/. - c.1485T>C r.(?) p.(Tyr495=) Unknown - likely benign g.51242303T>C g.50950106T>C AP4E1(NM_007347.4):c.1485T>C (p.Y495=) - AP4E1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532_1534del r.(?) p.(Leu511del) Unknown - VUS g.51242350_51242352del - AP4E1(NM_007347.4):c.1532_1534delTTC (p.(Leu511del)) - AP4E1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1549G>A r.(?) p.(Val517Ile) Parent #1 ACMG VUS g.51250689G>A g.50958492G>A - - AP4E1_000074 ACMG PM2, PP3, PP5 PubMed: Molaei 2025 SCV006074711.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC Fam9611215Pat67 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.1566C>G r.(?) p.(Ser522=) Unknown - likely benign g.51250706C>G g.50958509C>G AP4E1(NM_007347.4):c.1566C>G (p.S522=) - AP4E1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1825G>C r.(?) p.(Val609Leu) Unknown - likely benign g.51250965G>C g.50958768G>C AP4E1(NM_001252127.1):c.1600G>C (p.(Val534Leu)) - AP4E1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1851+2_1851+5dup r.spl? p.? Unknown - VUS g.51250993_51250996dup - AP4E1(NM_001252127.1):c.1626_1626+1insGTAA - AP4E1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1851+2_1851+5dup r.spl p.? Parent #2 ACMG VUS g.51250993_51250996dup g.50958796_50958799dup - - AP4E1_000049 ACMG PM2, PP3 PubMed: Molaei 2025 SCV006074712.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC Fam9611215Pat67 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
?/. - c.1852G>A r.(?) p.(Val618Ile) Unknown - VUS g.51260460G>A - - - AP4E1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1925C>T r.(?) p.(Pro642Leu) Unknown - VUS g.51260533C>T g.50968336C>T AP4E1(NM_001252127.1):c.1700C>T (p.(Pro567Leu)) - AP4E1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2033C>T r.(?) p.(Ala678Val) Unknown - VUS g.51276285C>T - AP4E1(NM_001252127.1):c.1808C>T (p.A603V) - AP4E1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2044C>G r.(?) p.(Leu682Val) Unknown - likely benign g.51276296C>G - AP4E1(NM_001252127.1):c.1819C>G (p.L607V), AP4E1(NM_007347.4):c.2044C>G (p.(Leu682Val)) - AP4E1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2044C>G r.(?) p.(Leu682Val) Unknown - VUS g.51276296C>G - AP4E1(NM_001252127.1):c.1819C>G (p.L607V), AP4E1(NM_007347.4):c.2044C>G (p.(Leu682Val)) - AP4E1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2108T>C r.(?) p.(Leu703Pro) Unknown - VUS g.51285584T>C g.50993387T>C AP4E1(NM_001252127.2):c.1883T>C (p.L628P) - AP4E1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2176G>T r.(?) p.(Glu726Ter) Unknown - pathogenic g.51285652G>T g.50993455G>T - - AP4E1_000070 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2193T>C r.(?) p.(Pro731=) Unknown - likely benign g.51285669T>C g.50993472T>C AP4E1(NM_007347.4):c.2193T>C (p.P731=) - AP4E1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2194G>T r.(?) p.(Val732Phe) Unknown - VUS g.51285670G>T g.50993473G>T AP4E1(NM_001252127.2):c.1969G>T (p.V657F) - AP4E1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2202A>G r.(?) p.(Gln734=) Unknown - VUS g.51285678A>G g.50993481A>G AP4E1(NM_001252127.1):c.1977A>G (p.Q659=) - AP4E1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2346+10C>T r.(=) p.(=) Unknown - likely benign g.51285832C>T - AP4E1(NM_001252127.1):c.2121+10C>T - AP4E1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2429C>T r.(?) p.(Thr810Ile) Unknown - likely benign g.51289605C>T g.50997408C>T AP4E1(NM_007347.4):c.2429C>T (p.T810I), AP4E1(NM_007347.5):c.2429C>T (p.T810I) - AP4E1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2429C>T r.(?) p.(Thr810Ile) Unknown - likely benign g.51289605C>T - AP4E1(NM_007347.4):c.2429C>T (p.T810I), AP4E1(NM_007347.5):c.2429C>T (p.T810I) - AP4E1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2571A>G r.(?) p.(Ser857=) Unknown - likely benign g.51289747A>G g.50997550A>G AP4E1(NM_001252127.1):c.2346A>G (p.S782=) - AP4E1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581C>T r.(?) p.(Leu861=) Unknown - likely benign g.51289757C>T g.50997560C>T AP4E1(NM_001252127.1):c.2356C>T (p.L786=) - AP4E1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2670A>G r.(?) p.(Gln890=) Unknown - likely benign g.51289846A>G - AP4E1(NM_001252127.1):c.2445A>G (p.Q815=) - AP4E1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2801T>C r.(?) p.(Ile934Thr) Unknown - likely benign g.51289977T>C g.50997780T>C AP4E1(NM_001252127.1):c.2576T>C (p.I859T), AP4E1(NM_007347.5):c.2801T>C (p.I934T) - AP4E1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2801T>C r.(?) p.(Ile934Thr) Unknown - VUS g.51289977T>C - AP4E1(NM_001252127.1):c.2576T>C (p.I859T), AP4E1(NM_007347.5):c.2801T>C (p.I934T) - AP4E1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2804G>A r.(?) p.(Trp935Ter) Unknown - pathogenic g.51289980G>A g.50997783G>A AP4E1(NM_001252127.2):c.2579G>A (p.W860*) - AP4E1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2905-8A>G r.(=) p.(=) Unknown - likely benign g.51291261A>G - AP4E1(NM_007347.5):c.2905-8A>G - AP4E1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2932C>T r.(?) p.(Pro978Ser) Unknown - likely benign g.51291296C>T - AP4E1(NM_001252127.1):c.2707C>T (p.P903S) - AP4E1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2933C>T r.(?) p.(Pro978Leu) Unknown - VUS g.51291297C>T g.50999100C>T AP4E1(NM_001252127.1):c.2708C>T (p.(Pro903Leu)) - AP4E1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2969A>G r.(?) p.(Tyr990Cys) Unknown - VUS g.51291333A>G - - - AP4E1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3065C>G r.(?) p.(Ser1022Cys) Unknown - VUS g.51291429C>G g.50999232C>G - - AP4E1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3098C>G r.(?) p.(Pro1033Arg) Unknown - VUS g.51293225C>G g.51001028C>G AP4E1(NM_001252127.1):c.2873C>G (p.P958R) - AP4E1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3132_3133del r.(?) p.(Trp1045Valfs*6) Unknown - VUS g.51293259_51293260del - AP4E1(NM_007347.5):c.3132_3133del (p.(Trp1045ValfsTer6)) - AP4E1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3215T>A r.(?) p.(Leu1072Gln) Unknown - VUS g.51293342T>A g.51001145T>A AP4E1(NM_001252127.1):c.2990T>A (p.L997Q) - AP4E1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3254-18A>G r.(=) p.(=) Unknown - likely benign g.51294681A>G g.51002484A>G AP4E1(NM_007347.4):c.3254-18A>G - AP4E1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3314G>A r.(?) p.(Arg1105Gln) Parent #1 - VUS g.51294759G>A g.51002562G>A - - AP4E1_000047 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139640763 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.3387G>A r.(?) p.(Gln1129=) Unknown - benign g.51294832G>A g.51002635G>A AP4E1(NM_001252127.2):c.3162G>A (p.Q1054=), AP4E1(NM_007347.4):c.3387G>A (p.Q1129=) - AP4E1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3387G>A r.(?) p.(Gln1129=) Unknown - benign g.51294832G>A g.51002635G>A AP4E1(NM_001252127.2):c.3162G>A (p.Q1054=), AP4E1(NM_007347.4):c.3387G>A (p.Q1129=) - AP4E1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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