All transcript variants in gene ABCD1

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-279916_*600717dup - r.0? p.0? g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. 6_9i c.1601_(1991+1_1992-1)delins(?) - r.1601_1991delins88 p.? g.153005657_(153008801_153008942)delins(?) - 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 - 0 - Johan den Dunnen
+/. - c.1A>G pathogenic r.? p.? g.152990722A>G - ABCD1:c.1A>G (Met1?) - ABCD1_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.40A>G likely benign - - g.152990761A>G - ABCD1:NM_000033.3:c.40A>G, NM_001139441.1:c.-1335T>C, … - ABCD1_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.41C>G likely benign - - g.152990762C>G - ABCD1:NM_000033.3:c.41C>G, NM_001139441.1:c.-1336G>C, … - ABCD1_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.41C>G VUS r.(?) p.(Thr14Arg) g.152990762C>G - ABCD1:NM_000033.3:c.41C>G (Thr14Arg) - ABCD1_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.57delC - r.57del p.Val20Cysfs*48 g.152990778delC g.153725323delC delC442 (A19>) - ABCD1_000058 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. - c.205_208delinsGGT pathogenic r.(?) p.(Arg69Glyfs*34) g.152990926_152990929delinsGGT - ABCD1 (Arg69Glyfs*34:c.205_208delinsGGT (Arg69fs) - ABCD1_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.208G>C likely benign r.(?) p.(Val70Leu) g.152990929G>C - ABCD1:NM_000033.3:c.208G>C (Val70Leu) - ABCD1_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.266G>A VUS r.(?) p.(Arg89Gln) g.152990987G>A - ABCD1:NM_000033.3:c.266G>A (Arg89Gln) - ABCD1_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.277delC - r.277del p.Leu93Cysfs*10 g.152990998delC g.153725543delC delC663 (G92>) - ABCD1_000059 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+?/. - c.290A>C likely pathogenic r.(?) p.(His97Pro) g.152991011A>C - ABCD1:NM_000033,3:c.290A>C (His97Pro) - ABCD1_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.293C>G likely pathogenic r.(?) p.(Ser98Trp) g.152991014C>G - ABCD1:NM_000033.3:c.293C>G (Ser98Trp) - ABCD1_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.300C>G VUS r.(=) p.(=) g.152991021C>G - ABCD1:NM_000033.3:c.300C>G (=) - ABCD1_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.310C>T - r.310c>u p.Arg104Cys g.152991031C>T g.153725576C>T C696T (R104C) - ABCD1_000054 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
?/. - c.359G>A VUS r.(?) p.(Arg120His) g.152991080G>A - ABCD1:NM_000033.3:c.359G>A (Arg120His) - ABCD1_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.366C>A likely benign r.(=) p.(=) g.152991087C>A - ABCD1:c.366C>A (I122=) - ABCD1_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.392G>T likely benign r.(?) p.(Gly131Val) g.152991113G>T - ABCD1:c.392G>T (G131V) - ABCD1_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.397C>T - r.397c>u p.Gln133* g.152991118C>T g.153725663C>T C783T (Q133) - ABCD1_000055 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 1 c.411G>A - r.411g>a p.Trp137* g.152991132G>A g.153725677G>A G797A (W137) - ABCD1_000056 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
?/. - c.422C>A VUS r.(?) p.(Ala141Asp) g.152991143C>A - ABCD1:NM_000033.3:c.422C>A (Ala141Asp) - ABCD1_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.446G>A - r.446g>a p.Ser149Asn g.152991167G>A g.153725712G>A G832A (S149N) - ABCD1_000057 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 1 c.455G>C - r.455g>c p.Arg152Pro g.152991176G>C g.153725721G>C G841C (R152P) - ABCD1_000038 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 1 c.469C>T - r.469c>u p.Gln157* g.152991190C>T g.153725735C>T C855T (Q157) - ABCD1_000039 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 1 c.488G>A - r.488g>a p.Arg163His g.152991209G>A g.153725754G>A G874A (R163H) - ABCD1_000040 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
?/. - c.493C>T VUS r.(?) p.(Arg165Cys) g.152991214C>T - ABCD1:NM_000033.3:c.493C>T (Arg165Cys) - ABCD1_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.543C>A - r.543c>a p.Tyr181* g.152991264C>A g.153725809C>A C929A (Y181) - ABCD1_000041 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
?/. - c.562G>A VUS r.(?) p.(Gly188Arg) g.152991283G>A - ABCD1:c.562G>A (G188R) - ABCD1_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.580G>C - r.580g>c p.Asp194His g.152991301G>C g.153725846G>C G966C (D194H) - ABCD1_000042 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
-?/. - c.601G>A likely benign - - g.152991322G>A - ABCD1:NM_000033.3:c.601G>A, NM_001139441.1:c.-1896C>T, … - ABCD1_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.617_624delinsTGCCACGTGGT VUS r.(?) p.(Ala206_Val208delinsValProArgGly) g.152991338_152991345delinsTGCCACGTGGT - ABCD1:NM_000033.3:c.617_624delinsTGCCACGTGGT (Ala206_Ser207delinsProArgGly) - ABCD1_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.659T>C - r.659u>c p.Leu220Pro g.152991380T>C g.153725925T>C T1045C (L220P) - ABCD1_000043 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
-?/. - c.757C>G likely benign r.(?) p.(Leu253Val) g.152991478C>G - ABCD1:c.757C>G (L253V) - ABCD1_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.757C>G benign - - g.152991478C>G - ABCD1:NM_000033.3:c.757C>G, NM_001139441.1:c.-2052G>C, … - ABCD1_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.757C>G VUS r.(?) p.(Leu253Val) g.152991478C>G - ABCD1:NM_000033.3:c.757C>G (Leu253Val) - ABCD1_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.785_791del - r.785_791del p.Ser262Cysfs*72 g.152991506_152991512del g.153726051_153726057del del1171-1178 (F261>) - ABCD1_000044 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 1 c.796G>A - r.796g>a p.Gly266Arg g.152991517G>A g.153726062G>A G1182A (G266R) - ABCD1_000045 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
?/. - c.838C>T VUS r.(?) p.(Arg280Cys) g.152991559C>T - ABCD1:NM_000033.3:c.838C>T (Arg280Cys) - ABCD1_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.848A>G VUS r.(?) p.(His283Arg) g.152991569A>G - ABCD1:NM_000033.3:c.848A>G (His283Arg) - ABCD1_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.849C>T likely benign r.(=) p.(=) g.152991570C>T - ABCD1:c.849C>T (H283=) - ABCD1_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.892G>A likely pathogenic r.(?) p.(Gly298Ser) g.152991613G>A - ABCD1:NM_000033.3:c.892G>A (Gly298Ser) - ABCD1_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.901-5C>A likely pathogenic r.spl? p.? g.152994682C>A - ABCD1:NM_000033.3:c.901-5C>A (?) - ABCD1_000104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.901-5C>T likely benign - - g.152994682C>T - ABCD1:NM_000033.3:c.901-5C>T, NM_001256447.1:c.-4938G>A, … - ABCD1_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 2i_10_ c.1081+1375_*22761del - r.? p.? g.152996242_153031950del - 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 - - 0 - Johan den Dunnen
+/. 2i_5i c.(1081+1_1082-1)_(1393+1_1394-1)del - r.? p.? g.(152994868_153001565)_(153001968_153002610)del - IVS2_IVS5del - ABCD1_000010 - PubMed: Jiang 2015, Journal: Jiang 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i_5i c.(1081+1_1082-1)_(1393+1_1394-1)del - r.? p.? g.(152994868_153001565)_(153001968_153002610)del - IVS2_IVS5del - ABCD1_000010 - PubMed: Jiang 2015, Journal: Jiang 2015 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.1156A>T VUS r.(?) p.(Thr386Ser) g.153001640A>T - ABCD1:NM_000033.3:c.1156A>T (Thr386Ser) - ABCD1_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 3 c.1166G>A - r.1166g>a p.Arg389His g.153001650G>A g.153736196G>A G1552A (R389H) - ABCD1_000046 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+?/. - c.1166G>A likely pathogenic r.(?) p.(Arg389His) g.153001650G>A - ABCD1:NM_000033.3:c.1166G>A (Arg389His) - ABCD1_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1186G>A pathogenic r.(?) p.(Ala396Thr) g.153001670G>A - ABCD1:NM_000033.3:c.1186G>A (Ala396Thr) - ABCD1_000106 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys) g.153001835G>A - ABCD1:c.1261G>A (E421K) - ABCD1_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys) g.153001835G>A - ABCD1:c.1261G>A (E421K) - ABCD1_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1334C>T likely benign - - g.153001908C>T - ABCD1:NM_000033.3:c.1334C>T - ABCD1_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1334C>T VUS r.(?) p.(Ala445Val) g.153001908C>T - ABCD1:NM_000033.3:c.1334C>T (?) - ABCD1_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1338dup pathogenic r.(?) p.(Ser447Valfs*109) g.153001912dup - ABCD1:NM_000033.3:c.1338dup (Ser447fs) - ABCD1_000107 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1367G>A likely benign r.(?) p.(Arg456His) g.153001941G>A - ABCD1:c.1367G>A (R456H) - ABCD1_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del 1801-1802delAG - ABCD1_000008 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline yes 1/40 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del - - ABCD1_000008 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline yes 1/40 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del - - ABCD1_000008 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline yes 1/40 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del - - ABCD1_000008 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline yes 1/40 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.(?) p.(Gln472Argfs*83) g.153002632_153002633del g.153737178_153737179del - - ABCD1_000008 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline yes 1/40 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del del1801-1802 (E471>) - ABCD1_000008 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del del1801-1802 (E471>) - ABCD1_000008 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del del1801-1802 (E471>) - ABCD1_000008 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83 g.153002632_153002633del g.153737178_153737179del del1801-1802 (E471>) - ABCD1_000008 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. - c.1419del pathogenic r.(?) p.(Ile474Serfs*84) g.153002636del - ABCD1:NM_000033.3:c.1419del (Ile474fs) - ABCD1_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1438C>A VUS r.(?) p.(Pro480Thr) g.153002655C>A - ABCD1:NM_000033.3:c.1438C>A (Pro480Thr) - ABCD1_000109 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg) g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Unknown yes - - 0 - Johan den Dunnen
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg) g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline yes - AocI- 0 - Johan den Dunnen
+/. 5 c.1451C>G - r.1451c>g p.Pro484Arg g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline yes - AocI- 0 - Johan den Dunnen
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg) g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline yes - AocI- 0 - Johan den Dunnen
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg) g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline yes - AocI- 0 - Johan den Dunnen
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg) g.153002668C>G g.153737214C>G - - ABCD1_000037 - PubMed: Berger 1994, Journal: Berger 1994, OMIM:var0002 - - Germline yes - AocI- 0 - Johan den Dunnen
?/. - c.1488+3A>G VUS r.spl? p.? g.153002708A>G - ABCD1:NM_000033.3:c.1488+3A>G - ABCD1_000110 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. 5i c.1489-12T>G - r.(?) p.(=) g.153005534T>G g.153740080T>G - - ABCD1_000007 - - - - Germline - - - 0 - Yu Sun
-?/. - c.1489-9del likely benign r.(=) p.(=) g.153005537del - ABCD1:c.1489-7delC - ABCD1_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1489-6del likely benign r.(=) p.(=) g.153005540del - ABCD1:NM_000033.3:c.1489-6del (?) - ABCD1_000111 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. 6 c.1548G>A - r.(=) p.(=) g.153005605G>A g.153740151G>A 1934G>A - ABCD1_000001 - PubMed: Kemp 1994, Journal: Kemp 1994 - - Germline no 5/34 chromosomes - 0 - Johan den Dunnen
?/. 6 c.1548G>A - r.(?) p.(Leu516=) g.153005605G>A g.153740151G>A L516L - ABCD1_000001 recurrent, found 35 times PubMed: Tarpey 2009 - - Germline - 35/208 cases - 0 - Johan den Dunnen
-/. - c.1548G>A benign r.(=) p.(=) g.153005605G>A - ABCD1:c.1548G>A (=) - ABCD1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1548G>A benign r.(=) p.(=) g.153005605G>A - ABCD1:NM_000033.3:c.1548G>A (=) - ABCD1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1552C>T likely pathogenic r.(?) p.(Arg518Trp) g.153005609C>T - ABCD1:NM_000033.3:c.1552C>T (Arg518Trp) - ABCD1_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.1553G>A - r.(?) p.(Arg518Gln) g.153005610G>A g.153740156G>A g.15288G>A - ABCD1_000061 heterozygous carrier mother, patient sample not available - - - Germline/De novo (untested) - - - 0 - Sudha Kohli
+/. 6i c.1635-2A>G - r.1635_1668del p.Pro546* g.153006026A>G g.153740572A>G del2021-2054 (R545>) - ABCD1_000047 - PubMed: Mosser 1994, Journal: Mosser 1994 - - Germline - 1/28 families - 0 - Johan den Dunnen
+/. 7 c.1661G>A - r.(?) p.(Arg554His) g.153006054G>A g.153740600G>A g.15732G>A - ABCD1_000062 - - - - Germline - - - 0 - Sudha Kohli
+?/. - c.1667A>T - r.(?) p.(Gln556Leu) g.153006060A>T - - - ABCD1_000117 - - - - Unknown - - - 0 - IMGAG
-?/. - c.1683C>T likely benign - - g.153006076C>T - ABCD1:NM_000033.3:c.1683C>T - ABCD1_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1699C>T VUS r.(?) p.(Gln567*) g.153006092C>T - ABCD1:c.1699C>T (Q567*) - ABCD1_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1699C>T likely benign - - g.153006092C>T - ABCD1:NM_000033.3:c.1699C>T - ABCD1_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1700A>G likely benign - - g.153006093A>G - ABCD1:NM_000033.3:c.1700A>G - ABCD1_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1744G>A benign r.(?) p.(Val582Ile) g.153006137G>A - ABCD1:c.1744G>A (V582I) - ABCD1_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1744G>A benign r.(?) p.(Val582Ile) g.153006137G>A - ABCD1:c.1744G>A (V582I) - ABCD1_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1748T>A benign r.(?) p.(Val583Glu) g.153006141T>A - ABCD1:c.1748T>A (V583E) - ABCD1_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1748T>A benign r.(?) p.(Val583Glu) g.153006141T>A - ABCD1:c.1748T>A (V583E) - ABCD1_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1748T>A likely benign r.(?) p.(Val583Glu) g.153006141T>A - ABCD1:c.1748T>A (V583E) - ABCD1_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1780+168_1780+169insGCATGGGTG - - p.(=) g.153006341_153006342insGCATGGGTG g.153740887_153740888insGCATGGGTG - - ABCD1_000002 - - - - Germline - - - - - Yu Sun
?/. - c.1781-150A>G - - p.(=) g.153008291A>G g.153742837A>G - - ABCD1_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.1781-7C>T likely benign r.(=) p.(=) g.153008434C>T - ABCD1:c.1781-7C>T - ABCD1_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1816T>C - - p.(Ser606Pro) g.153008476T>C g.153743022T>C - - ABCD1_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1816T>C VUS r.(?) p.(Ser606Pro) g.153008476T>C - ABCD1:c.1816T>C (S606P) - ABCD1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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