Full data view for gene AP4B1

Information The variants shown are described using the NM_006594.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-7309A>G r.(?) p.(=) Unknown - likely benign g.114454796T>C - DCLRE1B(NM_022836.4):c.1582T>C (p.Y528H) - AP4B1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7255T>A r.(?) p.(=) Unknown - likely benign g.114454742A>T g.113912120A>T DCLRE1B(NM_022836.4):c.1528A>T (p.N510Y) - DCLRE1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7255T>A r.(?) p.(=) Unknown - benign g.114454742A>T - DCLRE1B(NM_022836.4):c.1528A>T (p.N510Y) - DCLRE1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6911C>T r.(?) p.(=) Unknown - likely benign g.114454398G>A g.113911776G>A DCLRE1B(NM_022836.4):c.1184G>A (p.R395Q) - DCLRE1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6896G>A r.(?) p.(=) Unknown - likely benign g.114454383C>T g.113911761C>T DCLRE1B(NM_022836.4):c.1169C>T (p.S390F) - AP4B1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6892G>A r.(?) p.(=) Unknown - likely benign g.114454379C>T g.113911757C>T DCLRE1B(NM_022836.4):c.1165C>T (p.P389S) - AP4B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6574G>A r.(?) p.(=) Unknown - likely benign g.114454061C>T g.113911439C>T DCLRE1B(NM_022836.4):c.847C>T (p.R283C) - DCLRE1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6574G>A r.(?) p.(=) Unknown - likely benign g.114454061C>T - DCLRE1B(NM_022836.4):c.847C>T (p.R283C) - DCLRE1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6567G>C r.(?) p.(=) Unknown - likely benign g.114454054C>G g.113911432C>G DCLRE1B(NM_022836.4):c.840C>G (p.S280=) - AP4B1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6479G>A r.(?) p.(=) Unknown - VUS g.114453966C>T g.113911344C>T DCLRE1B(NM_022836.4):c.752C>T (p.T251M) - AP4B1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6390T>C r.(?) p.(=) Unknown - likely benign g.114453877A>G g.113911255A>G DCLRE1B(NM_022836.4):c.663A>G (p.T221=) - AP4B1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3322C>T r.(?) p.(=) Unknown - likely benign g.114450809G>A - DCLRE1B(NM_022836.4):c.534G>A (p.K178=) - AP4B1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3317T>C r.(?) p.(=) Unknown - likely benign g.114450804A>G - DCLRE1B(NM_022836.4):c.529A>G (p.I177V) - AP4B1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3235G>C r.(?) p.(=) Unknown - VUS g.114450722C>G g.113908100C>G DCLRE1B(NM_022836.4):c.447C>G (p.C149W) - AP4B1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3135A>G r.(?) p.(=) Unknown - likely benign g.114450622T>C g.113908000T>C DCLRE1B(NM_022836.4):c.356-9T>C - AP4B1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3126T>C r.(?) p.(=) Unknown - likely benign g.114450613A>G - DCLRE1B(NM_022836.4):c.356-18A>G - AP4B1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2289G>A r.(?) p.(=) Unknown - likely benign g.114449776C>T g.113907154C>T DCLRE1B(NM_022836.4):c.348C>T (p.L116=) - AP4B1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2220G>A r.(?) p.(=) Unknown - likely benign g.114449707C>T - DCLRE1B(NM_022836.4):c.279C>T (p.T93=) - AP4B1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2214G>A r.(?) p.(=) Unknown - likely benign g.114449701C>T - DCLRE1B(NM_022836.4):c.273C>T (p.T91=) - AP4B1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-794G>T r.(?) p.(=) Unknown - VUS g.114448281C>A g.113905659C>A DCLRE1B(NM_022836.4):c.73C>A (p.R25S) - AP4B1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-794G>T r.(?) p.(=) Unknown - VUS g.114448281C>A - DCLRE1B(NM_022836.4):c.73C>A (p.R25S) - AP4B1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69A>G r.(?) p.(Gln23=) Unknown - benign g.114447271T>C g.113904649T>C AP4B1(NM_006594.4):c.69A>G (p.Q23=) - AP4B1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175A>G r.(?) p.(Thr59Ala) Unknown - VUS g.114445423T>C g.113902801T>C AP4B1(NM_006594.4):c.175A>G (p.T59A) - AP4B1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211T>C r.(?) p.(Tyr71His) Unknown - VUS g.114445387A>G g.113902765A>G AP4B1(NM_006594.4):c.211T>C (p.Y71H) - AP4B1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240A>G r.(?) p.(Pro80=) Unknown - benign g.114445358T>C g.113902736T>C AP4B1(NM_006594.4):c.240A>G (p.P80=) - AP4B1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247G>C r.(?) p.(Ala83Pro) Unknown - VUS g.114445351C>G g.113902729C>G AP4B1(NM_001253852.3):c.247G>C (p.(Ala83Pro)), AP4B1(NM_006594.4):c.247G>C (p.A83P) - AP4B1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247G>C r.(?) p.(Ala83Pro) Unknown - VUS g.114445351C>G - AP4B1(NM_001253852.3):c.247G>C (p.(Ala83Pro)), AP4B1(NM_006594.4):c.247G>C (p.A83P) - AP4B1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.284C>G r.(?) p.(Ser95Ter) Unknown - likely pathogenic g.114445314G>C g.113902692G>C AP4B1(NM_006594.4):c.284C>G (p.S95*) - AP4B1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(Arg107Trp) Unknown - VUS g.114445279G>A g.113902657G>A AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W) - AP4B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(Arg107Trp) Unknown - VUS g.114445279G>A - AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W) - AP4B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(Arg107Trp) Unknown - VUS g.114445279G>A - AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W) - AP4B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338+20_338+23del r.(=) p.(=) Unknown - likely benign g.114445241_114445244del - AP4B1(NM_006594.5):c.338+20_338+23delTCTG - AP4B1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.361A>G r.(?) p.(Ile121Val) Unknown - likely benign g.114444485T>C g.113901863T>C AP4B1(NM_006594.4):c.361A>G (p.I121V) - AP4B1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.405_409del r.(?) p.(Tyr135*) Both (homozygous) ACMG likely pathogenic (recessive) g.114444437_114444441del - 405_409delTGTCA - AP4B1_000053 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat7 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.443A>C r.(?) p.(His148Pro) Unknown - pathogenic g.114444403T>G g.113901781T>G AP4B1(NM_006594.5):c.443A>C (p.H148P) - AP4B1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.444del r.(?) p.(His148GlnfsTer9) Unknown - pathogenic g.114444402del g.113901780del AP4B1(NM_006594.5):c.444delT (p.H148Qfs*9) - AP4B1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.444del r.(?) p.(His148GlnfsTer9) Unknown - pathogenic g.114444402del g.113901780del AP4B1(NM_006594.5):c.444delT (p.H148Qfs*9) - AP4B1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.487_488insTAT r.(?) p.(Glu163_Leu164delinsVal*) Both (homozygous) - pathogenic g.114443987_114443988insATA g.113901365_113901366insATA - - AP4B1_000001 - PubMed: Abou Jamra 2011 - - Germline yes - - - - DNA SEQ - - ID - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carreir parents F yes Israel Iaraeli;Arab - - - - 1 Johan den Dunnen
+/? 5 c.487_488insTAT r.(?) p.(Glu163_Leu164delinsVal*) Both (homozygous) - pathogenic g.114443987_114443988insATA g.113901365_113901366insATA - - AP4B1_000001 - PubMed: Abou Jamra 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents F yes Israel Iaraeli;Arab - - - - 1 Johan den Dunnen
+/? 5 c.487_488insTAT r.(?) p.(Glu163_Leu164delinsVal*) Both (homozygous) - pathogenic g.114443987_114443988insATA g.113901365_113901366insATA - - AP4B1_000001 - PubMed: Abou Jamra 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID - PubMed: Abou Jamra 2011 4-generation family, 3 affecteds, unaffected carrier parents M yes Israel Iaraeli;Arab - - - - 1 Johan den Dunnen
?/. - c.524T>C r.(?) p.(Val175Ala) Unknown - VUS g.114443951A>G g.113901329A>G AP4B1(NM_006594.4):c.524T>C (p.V175A) - AP4B1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570A>G r.(?) p.(Glu190=) Unknown - likely benign g.114443905T>C g.113901283T>C AP4B1(NM_006594.4):c.570A>G (p.E190=) - AP4B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576C>T r.(?) p.(Gly192=) Unknown - benign g.114443899G>A g.113901277G>A - - AP4B1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577G>A r.(?) p.(Val193Ile) Unknown ACMG VUS g.114443898C>T - - - AP4B1_000054 ACMG grading: BP4,PM2,PM3 Lamichhane et al. 2013. J Pediatr Genet 4: 191; Ebrahimi-Fakhari et al. 2018. Am J Hum Genet 2: 311 - rs376478015 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.577G>A r.(?) p.(Val193Ile) Unknown - pathogenic g.114443898C>T - - - AP4B1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.616C>T r.(?) p.(Arg206Ter) Unknown - likely pathogenic g.114443859G>A g.113901237G>A AP4B1(NM_006594.5):c.616C>T (p.R206*) - AP4B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616C>T r.(?) p.(Arg206Ter) Unknown - pathogenic g.114443859G>A - AP4B1(NM_006594.5):c.616C>T (p.R206*) - AP4B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.617G>A r.(?) p.(Arg206Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.114443858C>T - - - AP4B1_000052 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat9 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.618-13G>C r.(=) p.(=) Unknown - benign g.114443035C>G g.113900413C>G AP4B1(NM_006594.5):c.618-13G>C, AP4B1-AS1(NR_037864.1):n.910C>G - AP4B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.618-13G>C r.(=) p.(=) Unknown - benign g.114443035C>G g.113900413C>G AP4B1(NM_006594.5):c.618-13G>C, AP4B1-AS1(NR_037864.1):n.910C>G - AP4B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.664del r.(?) p.(Leu222Cysfs*31) Both (homozygous) - pathogenic g.114442976del g.113900354del c.869delC - AP4B1_000002 - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CP - PubMed: Tüysüz 2014, Journal: Tüysüz 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F ? Turkey - - - - - 2 Johan den Dunnen
+/. - c.664del r.(?) p.(Leu222CysfsTer31) Both (homozygous) - pathogenic (recessive) g.114442976del g.113900354del - - AP4B1_000002 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF104 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
+/? 6 c.664delC r.(?) p.(Leu222Cysfs*31) Both (homozygous) - pathogenic g.114442976delG g.113900354delG p.I222fs - AP4B1_000002 not in 516 control chromosomes Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bauer 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - SPG - PubMed: Bauer 2012 2-generation family, affected brother and sister, unaffected carrier parents - yes Israel Arab - - - - 2 Johan den Dunnen
+?/. - c.754G>C r.(?) p.(Val252Leu) Both (homozygous) - likely pathogenic (recessive) g.114442886C>G - AP4B1:V252L - AP4B1_000068 - PubMed: Najmabadi 2011 - - Germline - - - - - DNA SEQ - - PBD FamM331 PubMed: Najmabadi 2011 family, 5 affected - yes Iran - - - - - 5 Global Variome, with Curator vacancy
-?/. - c.755T>C r.(?) p.(Val252Ala) Unknown - likely benign g.114442885A>G g.113900263A>G AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A) - AP4B1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755T>C r.(?) p.(Val252Ala) Unknown - VUS g.114442885A>G - AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A) - AP4B1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755T>C r.(?) p.(Val252Ala) Unknown - likely benign g.114442885A>G - AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A) - AP4B1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767C>T r.(?) p.(Thr256Ile) Unknown - VUS g.114442873G>A g.113900251G>A - - AP4B1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.894T>A r.(?) p.(Cys298Ter) Unknown - VUS g.114442746A>T g.113900124A>T AP4B1(NM_006594.4):c.894T>A (p.C298*) - AP4B1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912G>A r.(?) p.(Leu304=) Unknown - likely benign g.114442728C>T g.113900106C>T AP4B1(NM_006594.4):c.912G>A (p.L304=) - AP4B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.955T>C r.(?) p.(Phe319Leu) Both (homozygous) - pathogenic g.114442685A>G g.113900063A>G NM_006594: c.T955C; p.F319L - AP4B1_000004 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4474 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
+?/. - c.965_967delinsC r.(965_967delinsc) p.(Tyr322Serfs*16) Both (homozygous) ACMG pathogenic (recessive) g.114442673_114442675delinsG g.113900051_113900053delinsG 965-967delACTinsC - AP4B1_000072 - - - - Germline yes - - - - DNA SEQ-NG-I Blood Reconfirmed by Sanger sequencing SPG47;CPSQ5 RDFA06 - two patients - yes Pakistan - - - - - 2 Sadaf Naz
?/. - c.968C>T r.(?) p.(Ser323Leu) Unknown - VUS g.114442672G>A g.113900050G>A AP4B1(NM_006594.4):c.968C>T (p.S323L) - AP4B1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968C>T r.(?) p.(Ser323Leu) Unknown - VUS g.114442672G>A g.113900050G>A AP4B1(NM_006594.4):c.968C>T (p.S323L) - AP4B1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.991del r.(?) p.(Gln331ArgfsTer10) Both (homozygous) ACMG pathogenic (recessive) g.114442649del g.113900027del - - AP4B1_000066 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8800045 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
+/. - c.1115-2A>G r.spl? p.? Unknown - pathogenic g.114441425T>C g.113898803T>C AP4B1(NM_006594.5):c.1115-2A>G - AP4B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1115-2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.114441425T>C g.113898803T>C - - AP4B1_000011 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8900303 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
+?/. - c.1115-2A>G r.spl? p.? Unknown - likely pathogenic g.114441425T>C - AP4B1(NM_006594.5):c.1115-2A>G - AP4B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1160_1161del r.(?) p.(Thr387ArgfsTer30) Unknown - pathogenic g.114441378_114441379del g.113898756_113898757del AP4B1(NM_006594.4):c.1160_1161delCA (p.T387Rfs*30) - AP4B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1160_1161del r.(?) p.(Thr387Argfs*30) Unknown - pathogenic g.114441378_114441379del g.113898756_113898757del - - AP4B1_000010 - Abdollahpour (2015) Eur J Hum Genet 23: 256; Ebrahimi-Fakhari (2018) Am J Med Genet A 176: 311; Teinert (2019) Stem Cell Res 40: 101575 - rs587779388 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.1160_1161del r.(?) p.(Thr387ArgfsTer30) Both (homozygous) ACMG pathogenic (recessive) g.114441378_114441379del g.113898756_113898757del - - AP4B1_000010 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8900295 PubMed: Hu 2019 family, 3 affected individuals, double cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
-?/. - c.1189A>G r.(?) p.(Ile397Val) Unknown - likely benign g.114441349T>C g.113898727T>C AP4B1(NM_001253852.1):c.1189A>G (p.(Ile397Val)) - AP4B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198+6G>A r.(=) p.(=) Unknown - likely benign g.114441334C>T - AP4B1(NM_006594.4):c.1198+6G>A - AP4B1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248T>C r.(?) p.(Thr416=) Unknown - likely benign g.114440516A>G g.113897894A>G AP4B1(NM_006594.4):c.1248T>C (p.T416=) - AP4B1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1282G>T r.(?) p.(Glu428*) Both (homozygous) - pathogenic g.114440482C>A g.113897860C>A NM_006594: c.G1282T; p.E428X - AP4B1_000003 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4903 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
-?/. - c.1318A>C r.(?) p.(Ile440Leu) Unknown - likely benign g.114439072T>G g.113896450T>G AP4B1(NM_006594.4):c.1318A>C (p.I440L) - AP4B1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1331G>T r.(?) p.(Gly444Val) Unknown - VUS g.114439059C>A g.113896437C>A AP4B1(NM_006594.5):c.1331G>T (p.G444V) - AP4B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1331G>T r.(?) p.(Gly444Val) Unknown - VUS g.114439059C>A g.113896437C>A AP4B1(NM_006594.5):c.1331G>T (p.G444V) - AP4B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1331G>T r.(?) p.(Gly444Val) Unknown - VUS g.114439059C>A - AP4B1(NM_006594.5):c.1331G>T (p.G444V) - AP4B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1365T>C r.(?) p.(=) Unknown - benign g.114439025A>G - AP4B1(NM_006594.5):c.1365T>C (p.Y455=) - AP4B1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1439T>C r.(?) p.(Leu480Ser) Unknown - benign g.114438951A>G g.113896329A>G AP4B1(NM_006594.5):c.1439T>C (p.L480S), AP4B1-AS1(NR_037864.1):n.247-1539A>G - AP4B1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1444C>T r.(?) p.(Arg482Cys) Unknown - VUS g.114438946G>A g.113896324G>A AP4B1(NM_006594.4):c.1444C>T (p.R482C) - AP4B1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1511-6C>G r.[1511_1792del,1510_1511inscucag] p.[Glu504_Ser597del,Glu504Alafs*22] Both (homozygous) - likely pathogenic (recessive) g.114438666G>C g.113896044G>C - - AP4B1_000065 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-R - - SPG47;CPSQ5 - - - M likely Spain white - - - - 1 Clara Gómez
?/. - c.1526T>C r.(?) p.(Met509Thr) Unknown - VUS g.114438645A>G - AP4B1(NM_001253852.3):c.1526T>C (p.(Met509Thr)) - AP4B1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559G>A r.(?) p.(Arg520His) Unknown - VUS g.114438612C>T g.113895990C>T AP4B1(NM_006594.4):c.1559G>A (p.R520H) - AP4B1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644G>A r.(?) p.(Pro548=) Unknown - likely benign g.114438527C>T g.113895905C>T AP4B1(NM_006594.4):c.1644G>A (p.P548=) - AP4B1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1703G>A r.(?) p.(Gly568Asp) Unknown - likely benign g.114438468C>T g.113895846C>T AP4B1(NM_006594.4):c.1703G>A (p.G568D) - AP4B1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1723A>G r.(?) p.(Ile575Val) Unknown - likely benign g.114438448T>C g.113895826T>C AP4B1(NM_006594.4):c.1723A>G (p.I575V), AP4B1(NM_006594.5):c.1723A>G (p.I575V) - AP4B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1723A>G r.(?) p.(Ile575Val) Unknown - likely benign g.114438448T>C g.113895826T>C AP4B1(NM_006594.4):c.1723A>G (p.I575V), AP4B1(NM_006594.5):c.1723A>G (p.I575V) - AP4B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1725C>T r.(?) p.(Ile575=) Unknown - likely benign g.114438446G>A - AP4B1(NM_006594.4):c.1725C>T (p.I575=) - AP4B1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1815C>A r.(?) p.(Asn605Lys) Unknown - VUS g.114438092G>T g.113895470G>T AP4B1(NM_001253852.1):c.1815C>A (p.(Asn605Lys)) - AP4B1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2004C>T r.(?) p.(Thr668=) Unknown - likely benign g.114437903G>A g.113895281G>A AP4B1(NM_006594.4):c.2004C>T (p.T668=) - AP4B1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2096T>C r.(?) p.(Leu699Ser) Both (homozygous) - VUS g.114437811A>G g.113895189A>G - - AP4B1_000060 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4755 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.*35494A>G r.(=) p.(=) Unknown - likely benign g.114402193T>C - PTPN22(NM_015967.7):c.88-111A>G - AP4B1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*35664T>C r.(=) p.(=) Unknown - benign g.114402023A>G g.113859401A>G PTPN22(NM_015967.6):c.147T>C (p.A49=) - AP4B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*35664T>C r.(=) p.(=) Unknown - benign g.114402023A>G - PTPN22(NM_015967.6):c.147T>C (p.A49=) - AP4B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35983A>G r.(=) p.(=) Unknown - likely benign g.114401704T>C g.113859082T>C PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G - AP4B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35983A>G r.(=) p.(=) Unknown - likely benign g.114401704T>C g.113859082T>C PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G - AP4B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35983A>G r.(=) p.(=) Unknown - likely benign g.114401704T>C - PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G - AP4B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35983A>G r.(=) p.(=) Unknown - likely benign g.114401704T>C - PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G - AP4B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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