Unique variants in the ABCD1 gene

Information The variants shown are described using the NM_000033.3 transcript reference sequence.

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

Reported     

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     
./. 1 - c.-279916_*600717dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.-4394G>A r.(?) p.(=) - likely benign g.152986328G>A g.153720873G>A BCAP31(NM_001139457.2):c.393C>T (p.I131=) - BCAP31_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-4318C>T r.(?) p.(=) - VUS g.152986404C>T g.153720949C>T BCAP31(NM_001139441.1):c.116G>A (p.(Arg39Gln)) - BCAP31_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-2118A>G r.(?) p.(=) - likely benign g.152988604A>G g.153723149A>G BCAP31(NM_001139457.2):c.293+4T>C - BCAP31_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-2011_-2009del r.(?) p.(=) - likely benign, VUS g.152988711_152988713del g.153723256_153723258del BCAP31(NM_001139457.2):c.190_192delTCT (p.S65del) - BCAP31_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.-1756C>T r.(?) p.(=) - VUS g.152988966C>T g.153723511C>T BCAP31(NM_001139457.2):c.154G>A (p.(Ala52Thr)) - BCAP31_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.-1741G>A r.(?) p.(=) - likely benign, VUS g.152988981G>A g.153723526G>A BCAP31(NM_001139457.2):c.139C>T (p.H47Y, p.(His47Tyr)) - BCAP31_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-1259G>T r.(?) p.(=) - likely benign g.152989463G>T g.153724008G>T BCAP31(NM_001139441.1):c.-45+8C>A (p.(=)) - BCAP31_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.31C>G r.(?) p.(Arg11Gly) - VUS g.152990752C>G g.153725297C>G ABCD1(NM_000033.3):c.31C>G (p.R11G) - BCAP31_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.36G>A r.(?) p.(Gly12=) - likely benign g.152990757G>A - ABCD1(NM_000033.3):c.36G>A (p.G12=) - ABCD1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 - c.38A>C r.(?) p.(Asn13Thr) - likely benign g.152990759A>C g.153725304A>C ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T) - BCAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 2 - c.40A>G r.(?) p.(Thr14Ala) - likely benign g.152990761A>G g.153725306A>G ABCD1(NM_000033.3):c.40A>G (p.T14A, p.(Thr14Ala)) - ABCD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 - c.41C>G r.(?) p.(Thr14Arg) - likely benign g.152990762C>G g.153725307C>G ABCD1(NM_000033.3):c.41C>G (p.T14R) - ABCD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 1 c.57del r.57del p.Val20Cysfs*48 - pathogenic g.152990778del g.153725323del delC442 (A19>) - ABCD1_000058 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
-?/. 1 - c.116G>T r.(?) p.(Cys39Phe) - likely benign g.152990837G>T - ABCD1(NM_000033.3):c.116G>T (p.C39F) - ABCD1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.208G>C r.(?) p.(Val70Leu) - likely benign g.152990929G>C g.153725474G>C - - ABCD1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.249C>T r.(?) p.(Phe83=) - likely benign g.152990970C>T - ABCD1(NM_000033.3):c.249C>T (p.F83=) - ABCD1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.258C>T r.(?) p.(Val86=) - likely benign g.152990979C>T - ABCD1(NM_000033.3):c.258C>T (p.V86=, p.(Val86=)) - ABCD1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 1 c.277del r.277del p.Leu93Cysfs*10 - pathogenic g.152990998del g.153725543del delC663 (G92>) - ABCD1_000059 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+?/. 1 - c.290A>C r.(?) p.(His97Pro) - likely pathogenic g.152991011A>C g.153725556A>C - - ABCD1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.293C>G r.(?) p.(Ser98Trp) - likely pathogenic g.152991014C>G g.153725559C>G - - ABCD1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.297C>T r.(?) p.(Ala99=) - likely benign g.152991018C>T g.153725563C>T ABCD1(NM_000033.3):c.297C>T (p.A99=) - BCAP31_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.300C>G r.(?) p.(Ala100=) - VUS g.152991021C>G g.153725566C>G - - ABCD1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.310C>T r.310c>u p.Arg104Cys - pathogenic g.152991031C>T g.153725576C>T C696T (R104C) - ABCD1_000054 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+/. 1 - c.314C>T r.(?) p.(Thr105Ile) - pathogenic g.152991035C>T g.153725580C>T - - BCAP31_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.337C>T r.(?) p.(Arg113Cys) - pathogenic g.152991058C>T g.153725603C>T ABCD1(NM_000033.3):c.337C>T (p.R113C) - BCAP31_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.359G>A r.(?) p.(Arg120His) - VUS g.152991080G>A g.153725625G>A - - ABCD1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.366C>A r.(?) p.(Ile122=) - likely benign g.152991087C>A g.153725632C>A ABCD1(NM_000033.3):c.366C>A (p.I122=) - ABCD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.392G>T r.(?) p.(Gly131Val) - likely benign, VUS g.152991113G>T g.153725658G>T ABCD1(NM_000033.3):c.392G>T (p.G131V, p.(Gly131Val)) - ABCD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 1 c.397C>T r.397c>u p.Gln133* - pathogenic g.152991118C>T g.153725663C>T C783T (Q133) - ABCD1_000055 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+/. 1 1 c.411G>A r.411g>a p.Trp137* - pathogenic g.152991132G>A g.153725677G>A G797A (W137) - ABCD1_000056 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
?/. 1 - c.422C>A r.(?) p.(Ala141Asp) - VUS g.152991143C>A g.153725688C>A - - ABCD1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 1 c.443A>G r.(?) p.(Asn148Ser) - likely pathogenic g.152991164A>G g.153725709A>G - - ABCD1_000141 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 1 c.446G>A r.(?), r.446g>a p.(Ser149Asn), p.Ser149Asn - likely pathogenic, pathogenic g.152991167G>A g.153725712G>A G832A (S149N) - ABCD1_000057 VKGL data sharing initiative Nederland PubMed: Mosser 1994, Journal: Mosser 1994 - - CLASSIFICATION record, Germline - 1/28 families - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.454C>T r.(?) p.(Arg152Cys) - pathogenic g.152991175C>T g.153725720C>T - - BCAP31_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.455G>C r.455g>c p.Arg152Pro - pathogenic g.152991176G>C g.153725721G>C G841C (R152P) - ABCD1_000038 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+/. 1 1 c.459C>A r.(?) p.(Tyr153Ter) - pathogenic g.152991180C>A g.153725725C>A - - ABCD1_000142 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.469C>T r.469c>u p.Gln157* - pathogenic g.152991190C>T g.153725735C>T C855T (Q157) - ABCD1_000039 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
-?/. 1 - c.474G>A r.(?) p.(Leu158=) - likely benign g.152991195G>A g.153725740G>A ABCD1(NM_000033.3):c.474G>A (p.L158=) - BCAP31_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.475G>A r.(?) p.(Ala159Thr) - likely benign g.152991196G>A g.153725741G>A ABCD1(NM_000033.3):c.475G>A (p.A159T) - BCAP31_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.488G>A r.488g>a p.Arg163His - pathogenic g.152991209G>A g.153725754G>A G874A (R163H) - ABCD1_000040 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
?/. 1 - c.493C>T r.(?) p.(Arg165Cys) - VUS g.152991214C>T g.153725759C>T - - ABCD1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.529C>T r.(?) p.(Gln177Ter) - pathogenic g.152991250C>T g.153725795C>T - - ABCD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.543C>A r.543c>a p.Tyr181* - pathogenic g.152991264C>A g.153725809C>A C929A (Y181) - ABCD1_000041 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
-?/. 1 - c.561C>T r.(?) p.(Asp187=) - likely benign g.152991282C>T g.153725827C>T ABCD1(NM_000033.3):c.561C>T (p.D187=) - BCAP31_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.562G>A r.(?) p.(Gly188Arg) - VUS g.152991283G>A g.153725828G>A ABCD1(NM_000033.3):c.562G>A (p.G188R) - ABCD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.565del r.(?) p.(Arg189GlyfsTer9) - pathogenic g.152991286del g.153725831del ABCD1(NM_000033.4):c.565delC (p.R189Gfs*9) - BCAP31_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.572G>A r.(?) p.(Arg191His) - VUS g.152991293G>A - ABCD1(NM_000033.3):c.572G>A (p.R191H) - ABCD1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.580G>C r.580g>c p.Asp194His - pathogenic g.152991301G>C g.153725846G>C G966C (D194H) - ABCD1_000042 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+/. 2 1 c.659T>C r.(?), r.659u>c p.(Leu220Pro), p.Leu220Pro - pathogenic g.152991380T>C g.153725925T>C T1045C (L220P) - ABCD1_000043 VKGL data sharing initiative Nederland PubMed: Mosser 1994, Journal: Mosser 1994 - - CLASSIFICATION record, Germline - 1/28 families - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.704C>T r.(?) p.(Ser235Phe) - VUS g.152991425C>T - - - ABCD1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.707G>A r.(?) p.(Arg236His) - likely benign, VUS g.152991428G>A g.153725973G>A ABCD1(NM_000033.3):c.707G>A (p.(Arg236His)), ABCD1(NM_000033.4):c.707G>A (p.R236H) - BCAP31_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+?/. 1 1 c.712del r.(?) p.(Ala238ProfsTer98) - likely pathogenic g.152991433del g.153725978del c.712delG - ABCD1_000143 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.731C>T r.(?) p.(Ser244Leu) - VUS g.152991452C>T - ABCD1(NM_000033.3):c.731C>T (p.S244L) - ABCD1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.742G>A r.(?) p.(Gly248Ser) - VUS g.152991463G>A - ABCD1(NM_000033.3):c.742G>A (p.G248S) - ABCD1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 - c.757C>G r.(?) p.(Leu253Val) - likely benign g.152991478C>G g.153726023C>G ABCD1(NM_000033.3):c.757C>G (p.L253V, p.(Leu253Val)), ABCD1(NM_000033.4):c.757C>G (p.L253V) - ABCD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 1 c.785_791del r.785_791del p.Ser262Cysfs*72 - pathogenic g.152991506_152991512del g.153726051_153726057del del1171-1178 (F261>) - ABCD1_000044 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
+/., +?/. 3 1 c.796G>A r.(?), r.796g>a p.(Gly266Arg), p.Gly266Arg - likely pathogenic, pathogenic g.152991517G>A g.153726062G>A G1182A (G266R) - ABCD1_000045 VKGL data sharing initiative Nederland PubMed: Ganapathy 2019, PubMed: Mosser 1994, Journal: Mosser 1994 - - CLASSIFICATION record, Germline - 1/28 families - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.820C>T r.(?) p.(Arg274Trp) - VUS g.152991541C>T - - - ABCD1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.838C>T r.(?) p.(Arg280Cys) - VUS g.152991559C>T g.153726104C>T - - ABCD1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.843C>A r.(?) p.(Tyr281Ter) - pathogenic g.152991564C>A - - - ABCD1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.848A>G r.(?) p.(His283Arg) - VUS g.152991569A>G g.153726114A>G - - ABCD1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.849C>T r.(?) p.(His283=) - likely benign g.152991570C>T g.153726115C>T ABCD1(NM_000033.3):c.849C>T (p.H283=) - ABCD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.851C>A r.(?) p.(Ser284*) - pathogenic g.152991572C>A - - - ABCD1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.892G>A r.(?) p.(Gly298Ser) - likely pathogenic g.152991613G>A g.153726158G>A - - ABCD1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.896A>G r.(?) p.(His299Arg) - VUS g.152991617A>G g.153726162A>G ABCD1(NM_000033.3):c.896A>G (p.H299R) - BCAP31_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.901-16C>T r.(=) p.(=) - likely benign g.152994671C>T g.153729216C>T ABCD1(NM_000033.3):c.901-16C>T (, p.(=)) - BCAP31_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.901-10C>T r.(=) p.(=) - likely benign g.152994677C>T - ABCD1(NM_000033.3):c.901-10C>T (p.(=)) - ABCD1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.901-5C>A r.spl? p.? - likely pathogenic g.152994682C>A g.153729227C>A - - ABCD1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.901-5C>T r.spl? p.? - likely benign g.152994682C>T g.153729227C>T ABCD1(NM_000033.3):c.901-5C>T (p.?) - ABCD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1i c.901-1G>A r.spl p.? - pathogenic g.152994686G>A g.153729231G>A - - ABCD1_000144 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1047C>A r.(?) p.(Val349=) - likely benign g.152994833C>A g.153729378C>A ABCD1(NM_000033.3):c.1047C>A (p.(=)) - BCAP31_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1047C>T r.(?) p.(Val349=) - likely benign g.152994833C>T - ABCD1(NM_000033.3):c.1047C>T (p.V349=) - ABCD1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2i_10_ c.1081+1375_*22761del r.? p.? - pathogenic g.152996242_153031950del g.153730787_153766495del del ex3-10 and PLXNB3 ex1-2 - ABCD1_000036 deletion fuses ABCD1 and PLXNB3 gene (transcript not analysed) PubMed: Matsumoto 2005, Journal: Matsumoto 2005 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1082-20A>C r.(=) p.(=) - VUS g.153001546A>C g.153736092A>C ABCD1(NM_000033.3):c.1082-20A>C (p.(=)) - ABCD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1082-15T>C r.(=) p.(=) - likely benign g.153001551T>C - ABCD1(NM_000033.3):c.1082-15T>C (p.(=)) - ABCD1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 2i_5i c.(1081+1_1082-1)_(1393+1_1394-1)del r.? p.? - pathogenic g.(152994868_153001565)_(153001968_153002610)del - IVS2_IVS5del - ABCD1_000010 - PubMed: Jiang 2015, Journal: Jiang 2015 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1117A>G r.(?) p.(Lys373Glu) - likely benign g.153001601A>G g.153736147A>G ABCD1(NM_000033.3):c.1117A>G (p.K373E) - ABCD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1127A>C r.(?) p.(Glu376Ala) - likely benign g.153001611A>C g.153736157A>C ABCD1(NM_000033.3):c.1127A>C (p.(Glu376Ala)) - ABCD1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1156A>T r.(?) p.(Thr386Ser) - VUS g.153001640A>T g.153736186A>T - - ABCD1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 3 c.1166G>A r.(?), r.1166g>a p.(Arg389His), p.Arg389His - likely pathogenic, pathogenic g.153001650G>A g.153736196G>A ABCD1(NM_000033.4):c.1166G>A (p.R389H), G1552A (R389H) - ABCD1_000046 VKGL data sharing initiative Nederland PubMed: Mosser 1994, Journal: Mosser 1994 - - CLASSIFICATION record, Germline - 1/28 families - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.1186G>A r.(?) p.(Ala396Thr) - pathogenic g.153001670G>A g.153736216G>A - - ABCD1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1261G>A r.(?) p.(Glu421Lys) - VUS g.153001835G>A g.153736381G>A ABCD1(NM_000033.3):c.1261G>A (p.E421K), ABCD1(NM_000033.4):c.1261G>A (p.E421K) - ABCD1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.1288C>T r.(?) p.(Gln430*) - pathogenic g.153001862C>T g.153736408C>T - - ABCD1_000126 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044726 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 3 - c.1334C>T r.(?) p.(Ala445Val) - VUS g.153001908C>T g.153736454C>T ABCD1(NM_000033.3):c.1334C>T (p.A445V), ABCD1(NM_000033.4):c.1334C>T (p.A445V) - ABCD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.1364dup r.(?) p.(Arg456Profs*100) - likely pathogenic g.153001938dup g.153736486dup - - ABCD1_000127 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs193922093 Germline - 1/2775 individuals - - - Mohammed Faruq
-?/. 1 - c.1367G>A r.(?) p.(Arg456His) - likely benign g.153001941G>A g.153736487G>A ABCD1(NM_000033.3):c.1367G>A (p.R456H) - ABCD1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1404G>A r.(?) p.(Val468=) - likely benign g.153002621G>A - ABCD1(NM_000033.3):c.1404G>A (p.V468=) - ABCD1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 10 5 c.1415_1416del r.(?), r.1415_1416del p.(Gln472Argfs*83), p.Gln472Argfs*83 ACMG pathogenic g.153002632_153002633del g.153737178_153737179del 1801-1802delAG, del1801-1802 (E471>) - ABCD1_000008 1 more item PubMed: Kemp 1994, Journal: Kemp 1994, PubMed: Mosser 1994, Journal: Mosser 1994 - rs387906494 Germline yes 1/28 families, 1/40 families - - - Johan den Dunnen, Andreas Laner
-?/. 1 - c.1438C>A r.(?) p.(Pro480Thr) - likely benign g.153002655C>A g.153737201C>A - - ABCD1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 5 c.1451C>G r.(?), r.1451c>g p.(Pro484Arg), p.Pro484Arg - pathogenic g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline, Unknown yes - AocI- - - Johan den Dunnen
?/. 1 - c.1455A>C r.(?) p.(Ser485=) - VUS g.153002672A>C - ABCD1(NM_000033.3):c.1455A>C (p.S485=) - ABCD1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5i c.1489-12T>G r.(?) p.(=) - likely benign g.153005534T>G g.153740080T>G - - ABCD1_000007 - - - - Germline - - - - - Yu Sun
-?/. 3 - c.1489-6del r.(=) p.(=) - likely benign g.153005540del g.153740086del ABCD1(NM_000033.3):c.1489-6del (p.(=)), ABCD1(NM_000033.3):c.1489-7delC - ABCD1_000075, ABCD1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/., ?/. 4 6 c.1548G>A r.(=), r.(?) p.(=), p.(Leu516=) - benign, likely benign, VUS g.153005605G>A g.153740151G>A 1934G>A, ABCD1(NM_000033.3):c.1548G>A (p.L516=), L516L - ABCD1_000001 recurrent, found 35 times, VKGL data sharing initiative Nederland PubMed: Kemp 1994, Journal: Kemp 1994, PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline no 35/208 cases, 5/34 chromosomes - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.1552C>T r.(?) p.(Arg518Trp) - likely pathogenic g.153005609C>T g.153740155C>T - - ABCD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.1553G>A r.(?) p.(Arg518Gln) - pathogenic g.153005610G>A g.153740156G>A g.15288G>A - ABCD1_000061 heterozygous carrier mother, patient sample not available - - - Germline/De novo (untested) - - - - - Sudha Kohli
-?/. 1 - c.1581C>T r.(?) p.(Tyr527=) - likely benign g.153005638C>T - ABCD1(NM_000033.3):c.1581C>T (p.Y527=) - ABCD1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6_9i c.1601_(1991+1_1992-1)delins(?) r.1601_1991delins88 p.? - pathogenic g.153005657_(153008801_153008942)delinsN[?] - alt1989-2377 (P534>) - ABCD1_000000 genomic DNA 1601-1991 replaced by ˜574 segment from intron 7 PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - - - Johan den Dunnen
?/. 1 - c.1624A>G r.(?) p.(Ile542Val) - VUS g.153005681A>G - ABCD1(NM_000033.3):c.1624A>G (p.I542V) - ABCD1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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