All transcript variants in gene ABCD1

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

184 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
?/. - c.-4318C>T VUS r.(?) p.(=) g.152986404C>T - BCAP31(NM_001139441.1):c.116G>A (p.(Arg39Gln), p.(Arg106Gln)) - BCAP31_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-2011_-2009del VUS r.(?) p.(=) g.152988711_152988713del - BCAP31(NM_001139457.2):c.190_192delTCT (p.S65del) - BCAP31_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-1756C>T VUS r.(?) p.(=) g.152988966C>T - BCAP31(NM_001139457.2):c.154G>A (p.(Ala52Thr)) - BCAP31_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-1741G>A VUS r.(?) p.(=) g.152988981G>A - BCAP31(NM_001139457.2):c.139C>T (p.(His47Tyr)) - BCAP31_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-1741G>A likely benign r.(?) p.(=) g.152988981G>A - BCAP31(NM_001139457.2):c.139C>T (p.(His47Tyr)) - BCAP31_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1259G>T likely benign r.(?) p.(=) g.152989463G>T - BCAP31(NM_001139441.1):c.-45+8C>A (p.(=)) - BCAP31_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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(g.152643916A>G):c.1A>G (p.Met1?) - ABCD1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.31C>G VUS r.(?) p.(Arg11Gly) g.152990752C>G - ABCD1(NM_000033.3):c.31C>G (p.R11G) - BCAP31_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.38A>C likely benign r.(?) p.(Asn13Thr) g.152990759A>C - ABCD1(NM_000033.3):c.38A>C (p.N13T) - BCAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.38A>C likely benign r.(?) p.(Asn13Thr) g.152990759A>C - ABCD1(NM_000033.3):c.38A>C (p.N13T) - BCAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.38A>C likely benign r.(?) p.(Asn13Thr) g.152990759A>C - ABCD1(NM_000033.3):c.38A>C (p.N13T) - BCAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.38A>C likely benign r.(?) p.(Asn13Thr) g.152990759A>C - ABCD1(NM_000033.3):c.38A>C (p.N13T) - BCAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.40A>G likely benign r.(?) p.(Thr14Ala) g.152990761A>G - ABCD1(NM_000033.3):c.40A>G (p.(Thr14Ala)) - ABCD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.41C>G likely benign r.(?) p.(Thr14Arg) g.152990762C>G - ABCD1(NM_000033.3):c.41C>G (p.Thr14Arg) - ABCD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.41C>G VUS r.(?) p.(Thr14Arg) g.152990762C>G - ABCD1(NM_000033.3):c.41C>G (p.Thr14Arg) - ABCD1_000064 VKGL data sharing initiative Nederland - - - 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.208G>C likely benign r.(?) p.(Val70Leu) g.152990929G>C - ABCD1(NM_000033.3):c.208G>C (p.Val70Leu) - ABCD1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.266G>A VUS r.(?) p.(Arg89Gln) g.152990987G>A - ABCD1(NM_000033.3):c.266G>A (p.Arg89Gln) - ABCD1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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 (p.His97Pro) - ABCD1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.293C>G likely pathogenic r.(?) p.(Ser98Trp) g.152991014C>G - ABCD1(NM_000033.3):c.293C>G (p.Ser98Trp) - ABCD1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.297C>T likely benign r.(?) p.(=) g.152991018C>T - ABCD1(NM_000033.3):c.297C>T (p.A99=) - BCAP31_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.300C>G VUS r.(?) p.(=) g.152991021C>G - ABCD1(NM_000033.3):c.300C>G (p.=) - ABCD1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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.337C>T pathogenic r.(?) p.(Arg113Cys) g.152991058C>T - ABCD1(NM_000033.3):c.337C>T (p.R113C) - BCAP31_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.359G>A VUS r.(?) p.(Arg120His) g.152991080G>A - ABCD1(NM_000033.3):c.359G>A (p.Arg120His) - ABCD1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.366C>A likely benign r.(?) p.(=) g.152991087C>A - ABCD1(NM_000033.3):c.366C>A (p.I122=) - ABCD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.392G>T likely benign r.(?) p.(Gly131Val) g.152991113G>T - ABCD1(NM_000033.3):c.392G>T (p.G131V) - ABCD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.392G>T likely benign r.(?) p.(Gly131Val) g.152991113G>T - ABCD1(NM_000033.3):c.392G>T (p.G131V) - ABCD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.392G>T VUS r.(?) p.(Gly131Val) g.152991113G>T - ABCD1(NM_000033.3):c.392G>T (p.G131V) - ABCD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 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 (p.Ala141Asp) - ABCD1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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
+/. - c.454C>T pathogenic r.(?) p.(Arg152Cys) g.152991175C>T - ABCD1(NM_000033.3):c.454C>T (p.(Arg152Cys)) - BCAP31_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 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
-?/. - c.474G>A likely benign r.(?) p.(=) g.152991195G>A - ABCD1(NM_000033.3):c.474G>A (p.L158=) - BCAP31_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.475G>A likely benign r.(?) p.(Ala159Thr) g.152991196G>A - ABCD1(NM_000033.3):c.475G>A (p.A159T) - BCAP31_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 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 (p.Arg165Cys) - ABCD1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.529C>T pathogenic r.(?) p.(Gln177*) g.152991250C>T - ABCD1(NM_000033,3):c.529C>T (p.Gln177*) - ABCD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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(NM_000033.3):c.562G>A (p.G188R) - ABCD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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 r.(?) p.(Val201Met) g.152991322G>A - ABCD1(NM_000033.3):c.601G>A (p.(Val201Met)) - ABCD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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.659T>C pathogenic r.(?) p.(Leu220Pro) g.152991380T>C - ABCD1(NM_000033.3):c.659T>C (p.Leu220Pro) - ABCD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.707G>A likely benign r.(?) p.(Arg236His) g.152991428G>A - ABCD1(NM_000033.3):c.707G>A (p.R236H) - BCAP31_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.757C>G likely benign r.(?) p.(Leu253Val) g.152991478C>G - ABCD1(NM_000033.3):c.757C>G (p.Leu253Val) - ABCD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.757C>G VUS r.(?) p.(Leu253Val) g.152991478C>G - ABCD1(NM_000033.3):c.757C>G (p.Leu253Val) - ABCD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.757C>G VUS r.(?) p.(Leu253Val) g.152991478C>G - ABCD1(NM_000033.3):c.757C>G (p.Leu253Val) - ABCD1_000069 VKGL data sharing initiative Nederland - - - 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):c.838C>T (p.Arg280Cys) - ABCD1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.848A>G VUS r.(?) p.(His283Arg) g.152991569A>G - ABCD1(NM_000033.3):c.848A>G (p.His283Arg) - ABCD1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.849C>T likely benign r.(?) p.(=) g.152991570C>T - ABCD1(NM_000033.3):c.849C>T (p.H283=) - ABCD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.892G>A likely pathogenic r.(?) p.(Gly298Ser) g.152991613G>A - ABCD1(NM_000033.3):c.892G>A (p.Gly298Ser) - ABCD1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.896A>G VUS r.(?) p.(His299Arg) g.152991617A>G - ABCD1(NM_000033.3):c.896A>G (p.H299R) - BCAP31_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.901-16C>T likely benign r.(=) p.(=) g.152994671C>T - ABCD1(NM_000033.3):c.901-16C>T (p.(=)) - BCAP31_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.901-16C>T likely benign r.(=) p.(=) g.152994671C>T - ABCD1(NM_000033.3):c.901-16C>T (p.(=)) - BCAP31_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.901-5C>A likely pathogenic r.spl? p.? g.152994682C>A - ABCD1(NM_000033.3):c.901-5C>A (p.?) - ABCD1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.901-5C>T likely benign r.spl? p.? g.152994682C>T - ABCD1(NM_000033.3):c.901-5C>T (p.?) - ABCD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1047C>A likely benign r.(?) p.(=) g.152994833C>A - ABCD1(NM_000033.3):c.1047C>A (p.(=)) - BCAP31_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 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
?/. - c.1082-20A>C VUS r.(=) p.(=) g.153001546A>C - ABCD1(NM_000033.3):c.1082-20A>C (p.(=)) - ABCD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 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.1117A>G likely benign r.(?) p.(Lys373Glu) g.153001601A>G - ABCD1(NM_000033.3):c.1117A>G (p.K373E) - ABCD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1127A>C likely benign r.(?) p.(Glu376Ala) g.153001611A>C - ABCD1(NM_000033.3):c.1127A>C (p.(Glu376Ala)) - ABCD1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1156A>T VUS r.(?) p.(Thr386Ser) g.153001640A>T - ABCD1(NM_000033.3):c.1156A>T (p.Thr386Ser) - ABCD1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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 (p.R389H) - ABCD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1166G>A pathogenic r.(?) p.(Arg389His) g.153001650G>A - ABCD1(NM_000033.3):c.1166G>A (p.R389H) - ABCD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1186G>A pathogenic r.(?) p.(Ala396Thr) g.153001670G>A - ABCD1(NM_000033.3):c.1186G>A (p.Ala396Thr) - ABCD1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys) g.153001835G>A - ABCD1(NM_000033.3):c.1261G>A (p.E421K) - ABCD1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys) g.153001835G>A - ABCD1(NM_000033.3):c.1261G>A (p.E421K) - ABCD1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1334C>T likely benign r.(?) p.(Ala445Val) g.153001908C>T - ABCD1(NM_000033.3):c.1334C>T (p.?) - ABCD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1334C>T VUS r.(?) p.(Ala445Val) g.153001908C>T - ABCD1(NM_000033.3):c.1334C>T (p.?) - ABCD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1334C>T VUS r.(?) p.(Ala445Val) g.153001908C>T - ABCD1(NM_000033.3):c.1334C>T (p.?) - ABCD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1367G>A likely benign r.(?) p.(Arg456His) g.153001941G>A - ABCD1(NM_000033.3):c.1367G>A (p.R456H) - ABCD1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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.1438C>A likely benign r.(?) p.(Pro480Thr) g.153002655C>A - ABCD1(NM_000033.3):c.1438C>A (p.Pro480Thr) - ABCD1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL
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