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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Adrenal Insufficiency (D000309)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Peroxisomal Disorders (D018901)
..Starting node ..Adrenoleukodystrophy (D000326)
Child Nodes:
........Peroxisomal ACYL-COA oxidase deficiency (C536662)
........PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
........Wells Jankovic syndrome (C536692)
Sister Nodes:
..Acatalasia (D020642)
..Adrenoleukodystrophy (D000326) 4
..Bile acid synthesis defect, congenital, 4 (C535444)
..Chondrodysplasia Punctata, Rhizomelic (D018902) 3
..Mevalonate Kinase Deficiency (D054078)
..PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
..PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
..PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
..PEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
..PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
..PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
..PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
..PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
..PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
..PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
..PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
..PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
..PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
..PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
..PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
..PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
..PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
..PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
..PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
..PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..Peroxisome Biogenesis Disorder, Complementation Group D (C566388)
..Peroxisome Biogenesis Disorder, Complementation Group E (C566569)
..Peroxisome Biogenesis Disorder, Complementation Group G (C566406)
..Peroxisome Biogenesis Disorder, Complementation Group H (C566626)
..Peroxisome Biogenesis Disorder, Complementation Group J (C563965)
..Peroxisome Biogenesis Disorder, Complementation Group K (C566624)
..Peroxisome Biogenesis Disorder, Complementation Group R (C566635)
..Peroxisome biogenesis disorders (C536664)
..Refsum Disease (D012035) 4
..Refsum Disease, Infantile (D052919)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

347

Name:

Adrenoleukodystrophy

Definition:

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Alternative IDs:

DO:DOID:10588|OMIM:300100

ParentIDs:

MESH:D000309|MESH:D018901|MESH:D020279|MESH:D020739|MESH:D038901

TreeNumbers:

C10.228.140.163.100.084 |C10.228.140.163.100.362.250 |C10.228.140.695.625.250 |C10.314.400.250 |C10.597.606.360.455.124 |C16.320.322.500.124 |C16.320.400.525.124 |C16.320.565.189.084 |C16.320.565.189.362.250 |C16.320.565.663.100 |C18.452.132.100.084 |C18.452.132.10

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D000326
MeSH: D000326
OMIM: 300100;
MSeqDR :
Genes: ABCD1;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0002500	Abnormality of the cerebral white matter
4	HP:0000924	Abnormality of the skeletal system
5	HP:0007018	Attention deficit hyperactivity disorder
6	HP:0000618	Blindness
7	HP:0002607	Bowel incontinence
8	HP:0001283	Bulbar palsy
9	HP:0000726	Dementia NAMDC: Dementia
10	HP:0003455	Elevated long chain fatty acids
11	HP:0000365	Hearing impairment
12	HP:0000953	Hyperpigmentation of the skin
13	HP:0000135	Hypogonadism NAMDC: Hypoparathyroidism
14	HP:0000802	Impotence
15	HP:0002311	Incoordination
16	HP:0002070	Limb ataxia
17	HP:0002371	Loss of speech
18	HP:0002180	Neurodegeneration
19	HP:0002385	Paraparesis
20	HP:0001271	Polyneuropathy
21	HP:0008207	Primary adrenal insufficiency
22	HP:0003676	Progressive
23	HP:0000709	Psychosis
24	HP:0001250	Seizures NAMDC: Seizures
25	HP:0001350	Slurred speech
26	HP:0001258	Spastic paraplegia
27	HP:0002078	Truncal ataxia
28	HP:0002839	Urinary bladder sphincter dysfunction
29	HP:0000020	Urinary incontinence
30	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_152954020)_(154096327_?)del	215	ABCD1	Pathogenic	-1	RCV000815921;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152954020	154096327		-
NC_000023.10:g.(?_152959340)_(153009209_?)del	215	ABCD1	Pathogenic	-1	RCV000805899;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152959340	153009209		-
NM_000033.4(ABCD1):c.-342G>A	215	ABCD1	Uncertain significance	rs912340339	RCV000316981;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990380	152990380	X:g.152990380G>A	ClinGen:CA10646029	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.-202C>G	215	ABCD1	Benign	rs781978041	RCV000371785;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990520	152990520	X:g.152990520C>G	ClinGen:CA10653819	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.-59C>T	215	ABCD1	Benign	rs4148030	RCV000286561\|RCV001354444;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990663	152990663	X:g.152990663C>T	ClinGen:CA10646033	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.-20C>T	215	ABCD1	Likely benign	rs782004770	RCV000600256\|RCV001279584;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990702	152990702	X:g.152990702C>T	ClinGen:CA10549894	CN169374 not specified;
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)	215	ABCD1	Pathogenic	rs387906497	RCV000012069;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990704	152990729	X:g.152990704_152990729del	ClinGen:CA278121,OMIM:300371.0026	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.-10C>T	215	ABCD1	Uncertain significance	rs782754717	RCV000322981;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990712	152990712	X:g.152990712C>T	ClinGen:CA10549895	C0162309 300100 Adrenoleukodystrophy;
NC_000023.10:g.(?_152990712)_(153009199_?)dup	215	ABCD1	Uncertain significance	-1	RCV001033211;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990712	153009199	-1	-
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)	215	ABCD1	Pathogenic	rs2091702389	RCV001055844;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990722	152990722	X:g.152990722A>G	-
NC_000023.10:g.(?_152990722)_(153009189_?)del	215	ABCD1	Pathogenic	-1	RCV001383534;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990722	153009189	-1	-
NM_000033.4(ABCD1):c.6G>A (p.Pro2=)	215	ABCD1	Likely benign	-1	RCV001489048;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990727	152990727	152990727	-
NM_000033.4(ABCD1):c.10dup (p.Leu4fs)	215	ABCD1	Likely pathogenic	rs2091702447	RCV001253262;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990730	152990731	X:g.152990730_152990731insC	-
NM_000033.4(ABCD1):c.12C>G (p.Leu4=)	215	ABCD1	Likely benign	-1	RCV001423041;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990733	152990733	152990733	-
NM_000033.4(ABCD1):c.12C>T (p.Leu4=)	215	ABCD1	Likely benign	-1	RCV002203333;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990733	152990733	152990733	-
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)	215	ABCD1	Pathogenic	rs1557052133	RCV000633483;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990737	152990743	NC_000023.10:g.152990737_152990743delinsCT	ClinGen:CA658799880	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.22del (p.Arg8fs)	215	ABCD1	Pathogenic	-1	RCV002007360;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990740	152990740	152990739	-
NM_000033.4(ABCD1):c.21C>T (p.Pro7=)	215	ABCD1	Likely benign	-1	RCV001470662;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990742	152990742	152990742	-
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)	215	ABCD1	Uncertain significance	rs2091702555	RCV001165779;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990743	152990743	X:g.152990743C>A	-
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)	215	ABCD1	Uncertain significance	-1	RCV002928009\|RCV003138398;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990743	152990743	NC_000023.10:g.152990743C>T	-
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)	215	ABCD1	Pathogenic	-1	RCV001576082\|RCV002570805;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990750	152990750	152990750	-
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)	215	ABCD1	Pathogenic	-1	RCV001389072;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990752	152990753	152990752	-
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002266226\|RCV003096011;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990752	152990752	152990752	-
NM_000033.4(ABCD1):c.36del (p.Asn13fs)	215	ABCD1	Pathogenic	rs1603231653	RCV000812852;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990753	152990753	X:g.152990753_152990753del	-
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV001483807;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990753	152990753	152990753	-
NM_000033.4(ABCD1):c.36G>A (p.Gly12=)	215	ABCD1	Likely benign	-1	RCV001475115;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990757	152990757	152990757	-
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)	215	ABCD1	Benign/Likely benign	rs183021839	RCV000377597\|RCV001000486\|RCV001528897\|RCV002314110;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152990759	152990759	X:g.152990759A>C	ClinGen:CA10549898,UniProtKB:P33897#VAR_013340	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781900720	RCV000502342\|RCV000512675\|RCV001239741;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990761	152990761	X:g.152990761A>G	ClinGen:CA10549899	CN517202 not provided;
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782161942	RCV000537259\|RCV001508971\|RCV002311848;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152990762	152990762	NC_000023.10:g.152990762C>G	ClinGen:CA10549900	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.43C>T (p.Leu15=)	215	ABCD1	Likely benign	-1	RCV002077616;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990764	152990764	152990764	-
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)	215	ABCD1	Likely benign	rs782693577	RCV000707690\|RCV001001198\|RCV002317927;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	X	152990771	152990771	X:g.152990771G>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781855598	RCV000512910\|RCV001086974\|RCV002350133;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152990775	152990775	X:g.152990775G>A	ClinGen:CA10549902	CN517202 not provided;
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV001797965\|RCV002541315;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990776	152990776	152990776	-
NM_000033.4(ABCD1):c.57C>G (p.Ala19=)	215	ABCD1	Likely benign	rs1603231679	RCV000975462\|RCV002066451;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990778	152990778	X:g.152990778C>G	-
NM_000033.4(ABCD1):c.57C>T (p.Ala19=)	215	ABCD1	Likely benign	-1	RCV002197171;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990778	152990778	152990778	-
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu)	215	ABCD1	Likely benign	-1	RCV002643668;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990780	152990780	NC_000023.10:g.152990780T>A	-
NM_000033.4(ABCD1):c.66G>T (p.Leu22=)	215	ABCD1	Likely benign	-1	RCV002193819;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990787	152990787	152990787	-
NM_000033.4(ABCD1):c.70del (p.Leu24fs)	215	ABCD1	Pathogenic	rs1557052171	RCV000525103;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990789	152990789	NC_000023.10:g.152990791del	ClinGen:CA658659054	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	215	ABCD1	Likely pathogenic	rs1569540665	RCV000761212;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990801	152990801	NC_000023.10:g.152990801A>C	-
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)	215	ABCD1	Uncertain significance	-1	RCV002982398\|RCV003138423;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990807	152990807	NC_000023.10:g.152990807C>A	-
NM_000033.4(ABCD1):c.90C>T (p.His30=)	215	ABCD1	Benign	-1	RCV001514670;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990811	152990811	152990811	-
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)	215	ABCD1	Likely benign	-1	RCV002922346;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990813	152990813	NC_000023.10:g.152990813A>G	-
NM_000033.4(ABCD1):c.93A>G (p.Lys31=)	215	ABCD1	Likely benign	-1	RCV002210013;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990814	152990814	152990814	-
NM_000033.4(ABCD1):c.102del (p.Leu35fs)	215	ABCD1	Pathogenic	-1	RCV001982473;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990820	152990820	152990819	-
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	rs375019683	RCV000418353\|RCV001276529;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990821	152990821	X:g.152990821C>T	ClinGen:CA10549907	CN169374 not specified;
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)	215	ABCD1	Uncertain significance	-1	RCV002655040;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990828	152990828	NC_000023.10:g.152990828T>C	-
NM_000033.4(ABCD1):c.108G>A (p.Val36=)	215	ABCD1	Benign	rs368718078	RCV000875300;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990829	152990829	X:g.152990829G>A	-
NM_000033.4(ABCD1):c.108G>T (p.Val36_Arg37=)	215	ABCD1	Likely benign	-1	RCV002619420;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990829	152990829	NC_000023.10:g.152990829G>T	-
NM_000033.4(ABCD1):c.114G>A (p.Gln38=)	215	ABCD1	Likely benign	-1	RCV002100863;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990835	152990835	152990835	-
NM_000033.4(ABCD1):c.117C>T (p.Cys39=)	215	ABCD1	Likely benign	rs1557052192	RCV000977410\|RCV001394092;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990838	152990838	X:g.152990838C>T	-
NM_000033.4(ABCD1):c.123C>A (p.Ala41=)	215	ABCD1	Likely benign	-1	RCV002137810;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990844	152990844	152990844	-
NM_000033.4(ABCD1):c.129C>G (p.Ala43=)	215	ABCD1	Likely benign	-1	RCV002109581;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990850	152990850	152990850	-
NM_000033.4(ABCD1):c.141G>A (p.Gln47_Ala48=)	215	ABCD1	Likely benign	-1	RCV002741333;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990862	152990862	NC_000023.10:g.152990862G>A	-
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)	215	ABCD1	Likely benign	-1	RCV002626637;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990864	152990864	NC_000023.10:g.152990864C>T	-
NM_000033.4(ABCD1):c.144G>A (p.Ala48=)	215	ABCD1	Likely benign	rs1557052209	RCV000613493\|RCV003117394;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990865	152990865	X:g.152990865G>A	ClinGen:CA519345231	CN169374 not specified;
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)	215	ABCD1	Pathogenic	rs1569540676	RCV000686459;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990866	152990879	NC_000023.10:g.152990867_152990880del	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.147C>T (p.Pro49=)	215	ABCD1	Likely benign	-1	RCV001415426;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990868	152990868	152990868	-
NM_000033.4(ABCD1):c.150C>T (p.Ala50=)	215	ABCD1	Likely benign	-1	RCV001496363;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990871	152990871	152990871	-
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)	215	ABCD1	Pathogenic	-1	RCV001902392;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990875	152990875	152990875	-
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)	215	ABCD1	Uncertain significance	-1	RCV002588075;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990882	152990882	NC_000023.10:g.152990882C>T	-
NM_000033.4(ABCD1):c.171C>T (p.Ala57=)	215	ABCD1	Likely benign	-1	RCV001725834\|RCV002073403;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990892	152990892	152990892	-
NM_000033.4(ABCD1):c.173C>T (p.Ser58Phe)	215	ABCD1	Likely benign	-1	RCV001443055;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990894	152990894	152990894	-
NM_000033.4(ABCD1):c.173C>G (p.Ser58Cys)	215	ABCD1	Likely benign	-1	RCV002938735;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990894	152990894	NC_000023.10:g.152990894C>G	-
NM_000033.4(ABCD1):c.177G>A (p.Gly59=)	215	ABCD1	Likely benign	-1	RCV002162759;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990898	152990898	152990898	-
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)	215	ABCD1	Uncertain significance	-1	RCV002620116;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990900	152990900	NC_000023.10:g.152990900T>C	-
NM_000033.4(ABCD1):c.180C>T (p.Val60=)	215	ABCD1	Likely benign	-1	RCV001470888;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990901	152990901	152990901	-
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)	215	ABCD1	Benign/Likely benign	rs782134465	RCV000960344\|RCV002316064;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152990902	152990902	NC_000023.10:g.152990902G>A	-
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)	215	ABCD1	Uncertain significance	-1	RCV003050882;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990902	152990902	NC_000023.10:g.152990902G>T	-
NM_000033.4(ABCD1):c.186G>A (p.Ala62_Ala63=)	215	ABCD1	Likely benign	-1	RCV002886052;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990907	152990907	NC_000023.10:g.152990907G>A	-
NM_000033.4(ABCD1):c.189C>G (p.Ala63=)	215	ABCD1	Likely benign	rs781837108	RCV000943054\|RCV001485236;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990910	152990910	X:g.152990910C>G	-
NM_000033.4(ABCD1):c.189C>T (p.Ala63_Lys64=)	215	ABCD1	Likely benign	-1	RCV002706732;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990910	152990910	NC_000023.10:g.152990910C>T	-
NM_000033.4(ABCD1):c.199A>G (p.Met67Val)	215	ABCD1	Uncertain significance	rs1057114018	RCV000990972\|RCV001847123;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990920	152990920	X:g.152990920A>G	-
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)	215	ABCD1	Likely benign	rs782701925	RCV000792914;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990929	152990929	X:g.152990929G>A	-
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782701925	RCV001093002\|RCV001245742;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990929	152990929	X:g.152990929G>C	-
NM_000033.4(ABCD1):c.214C>T (p.Leu72=)	215	ABCD1	Likely benign	-1	RCV002102123;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990935	152990935	152990935	-
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569540680	RCV000697885\|RCV001592891;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990942	152990950	NC_000023.10:g.152990950_152990958del	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)	215	ABCD1	Likely pathogenic	-1	RCV001526392;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990942	152990942	152990942	-
NM_000033.4(ABCD1):c.225C>T (p.Leu75=)	215	ABCD1	Benign	-1	RCV001522811;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990946	152990946	152990946	-
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)	215	ABCD1	Pathogenic	rs1603231784	RCV000812366;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990950	152990951	X:g.152990950_152990951insGGCTCCTGC	-
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)	215	ABCD1	Pathogenic/Likely pathogenic	-1	RCV001368455\|RCV003136041;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990951	152990959	152990950	-
NM_000033.4(ABCD1):c.234C>T (p.Leu78=)	215	ABCD1	Likely benign	-1	RCV001467274;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990955	152990955	152990955	-
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)	215	ABCD1	Pathogenic	-1	RCV002468888;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990955	152991286	NC_000023.10:g.152990955_152991286del	-
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)	215	ABCD1	Uncertain significance	rs868977355	RCV000633479;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990959	152990959	NC_000023.10:g.152990959C>T	ClinGen:CA415098456	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)	215	ABCD1	Pathogenic	-1	RCV002833472;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990961	152990962	NC_000023.10:g.152990962_152990963dup	-
NM_000033.4(ABCD1):c.243G>C (p.Leu81_Leu82=)	215	ABCD1	Benign	-1	RCV002569666;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990964	152990964	NC_000023.10:g.152990964G>C	-
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)	215	ABCD1	Pathogenic	rs713993050	RCV000149556\|RCV000790677;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990969	152990970	NC_000023.10:g.152990974dup	ClinGen:CA278445	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782628755	RCV000152718\|RCV001084845;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990970	152990970	X:g.152990970C>T	ClinGen:CA233411	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.253del (p.Arg85fs)	215	ABCD1	Pathogenic	-1	RCV002863587\|RCV003130768;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990970	152990970	NC_000023.10:g.152990974del	-
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV003066398\|RCV003138471;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990972	152990972	NC_000023.10:g.152990972C>T	-
NM_000033.4(ABCD1):c.252C>T (p.Pro84=)	215	ABCD1	Likely benign	-1	RCV002086876;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990973	152990973	152990973	-
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del)	215	ABCD1	Uncertain significance	rs2091704899	RCV001309696;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990974	152991000	152990973	-
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)	215	ABCD1	Uncertain significance	rs782221851	RCV001070548;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990975	152990975	X:g.152990975G>C	-
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu)	215	ABCD1	Uncertain significance	-1	RCV001894501;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990975	152990975	152990975	-
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp)	215	ABCD1	Uncertain significance	-1	RCV002019862;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990978	152990978	152990978	-
NM_000033.4(ABCD1):c.258C>T (p.Val86=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs200660869	RCV000283168\|RCV000585583\|RCV001001193\|RCV002314111;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	X	152990979	152990979	X:g.152990979C>T	ClinGen:CA10549927	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)	215	ABCD1	Uncertain significance	rs2091705016	RCV001052076\|RCV003141983;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152990984	152990984	X:g.152990984G>A	-
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)	215	ABCD1	Benign	-1	RCV002638087;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990986	152990986	NC_000023.10:g.152990986C>T	-
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)	215	ABCD1	Pathogenic	-1	RCV002876439;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990989	152990990	NC_000023.10:g.152990990dup	-
NM_000033.4(ABCD1):c.273G>A (p.Thr91=)	215	ABCD1	Likely benign	-1	RCV001451198;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990994	152990994	152990994	-
NM_000033.4(ABCD1):c.276del (p.Leu93fs)	215	ABCD1	Pathogenic	-1	RCV002834192;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152990994	152990994	NC_000023.10:g.152990997del	-
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)	215	ABCD1	Uncertain significance	rs201979180	RCV000438496\|RCV001241878\|RCV001266868;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152990995	152990995	X:g.152990995G>A	ClinGen:CA10549930	CN169374 not specified;
NM_000033.4(ABCD1):c.282G>A (p.Leu94=)	215	ABCD1	Likely benign	-1	RCV001470038;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991003	152991003	152991003	-
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)	215	ABCD1	Uncertain significance	-1	RCV002300323;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991004	152991004	152991004	-
NM_000033.4(ABCD1):c.285C>T (p.Ala95_Leu96=)	215	ABCD1	Likely benign	-1	RCV003073880;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991006	152991006	NC_000023.10:g.152991006C>T	-
NM_000033.4(ABCD1):c.285C>A (p.Ala95_Leu96=)	215	ABCD1	Likely benign	-1	RCV002725940;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991006	152991006	NC_000023.10:g.152991006C>A	-
NM_000033.4(ABCD1):c.286C>T (p.Leu96_His97=)	215	ABCD1	Likely benign	-1	RCV002848154;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991007	152991007	NC_000023.10:g.152991007C>T	-
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)	215	ABCD1	Uncertain significance	rs2091705296	RCV001240692;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991011	152991011	X:g.152991011A>C	-
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)	215	ABCD1	Likely pathogenic	-1	RCV002009827;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991011	152991011	152991011	-
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)	215	ABCD1	Pathogenic	rs1557052294	RCV000529139\|RCV001783035;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991014	152991014	X:g.152991014C>T	ClinGen:CA415098560	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)	215	ABCD1	Likely pathogenic	-1	RCV002282796;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991014	152991014	152991014	-
NM_000033.4(ABCD1):c.294G>T (p.Ser98=)	215	ABCD1	Likely benign	-1	RCV001426263;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991015	152991015	152991015	-
NM_000033.4(ABCD1):c.297C>G (p.Ala99=)	215	ABCD1	Likely benign	-1	RCV001467894;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991018	152991018	152991018	-
NM_000033.4(ABCD1):c.297C>T (p.Ala99=)	215	ABCD1	Likely benign	-1	RCV001466283;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991018	152991018	152991018	-
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)	215	ABCD1	Uncertain significance	rs1557052298	RCV000802990;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991019	152991019	X:g.152991019G>C	-
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)	215	ABCD1	Uncertain significance	-1	RCV002593932;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991019	152991019	NC_000023.10:g.152991019G>A	-
NM_000033.4(ABCD1):c.300C>G (p.Ala100=)	215	ABCD1	Likely benign	rs782098898	RCV000938434\|RCV001453825;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991021	152991021	X:g.152991021C>G	-
NM_000033.4(ABCD1):c.300C>A (p.Ala100_Leu101=)	215	ABCD1	Likely benign	-1	RCV002581731;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991021	152991021	NC_000023.10:g.152991021C>A	-
NM_000033.4(ABCD1):c.304G>A (p.Val102Met)	215	ABCD1	Uncertain significance	-1	RCV001580622;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991025	152991025	152991025	-
NM_000033.4(ABCD1):c.306G>A (p.Val102=)	215	ABCD1	Likely benign	-1	RCV001399068;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991027	152991027	152991027	-
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)	215	ABCD1	Pathogenic	-1	RCV001878403\|RCV002463049;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991031	152991031	152991031	-
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557052302	RCV000544041\|RCV001580508;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991032	152991032	X:g.152991032G>A	ClinGen:CA415098597	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)	215	ABCD1	Pathogenic	-1	RCV002007465;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991035	152991038	152991034	-
NM_000033.4(ABCD1):c.318C>T (p.Phe106_Leu107=)	215	ABCD1	Likely benign	-1	RCV002611478;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991039	152991039	NC_000023.10:g.152991039C>T	-
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)	215	ABCD1	Likely pathogenic	rs1569540688	RCV000722143;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991041	152991041	NC_000023.10:g.152991041T>C	-
NM_000033.4(ABCD1):c.321G>A (p.Leu107=)	215	ABCD1	Likely benign	rs375790297	RCV000928622\|RCV001456051;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991042	152991042	X:g.152991042G>A	-
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)	215	ABCD1	Pathogenic	rs2091705631	RCV001290134\|RCV002245946;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991044	152991044	152991044	-
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala)	215	ABCD1	Uncertain significance	-1	RCV001945838;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991047	152991047	152991047	-
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)	215	ABCD1	Uncertain significance	-1	RCV002040878;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991053	152991073	152991052	-
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002249219;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991058	152991058	152991058	-
NM_000033.4(ABCD1):c.338G>A (p.Arg113His)	215	ABCD1	Uncertain significance	-1	RCV001580621;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991059	152991059	152991059	-
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)	215	ABCD1	Likely pathogenic	-1	RCV003066399\|RCV003138472;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991059	152991059	NC_000023.10:g.152991059G>C	-
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	215	ABCD1	Pathogenic	rs1603231848	RCV000990973;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991062	152991062	X:g.152991062T>C	-
NM_000033.4(ABCD1):c.345C>T (p.Asp115=)	215	ABCD1	Likely benign	-1	RCV001444424;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991066	152991066	152991066	-
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	215	ABCD1	Pathogenic/Likely pathogenic	rs398123110	RCV000077963\|RCV002460043\|RCV002513815;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991067	152991067	X:g.152991067G>A	ClinGen:CA278414,UniProtKB:P33897#VAR_000030	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)	215	ABCD1	Pathogenic	rs398123110	RCV000824204;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991067	152991067	X:g.152991067G>C	-
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser)	215	ABCD1	Likely benign	-1	RCV002717074;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991076	152991076	NC_000023.10:g.152991076G>T	-
NM_000033.4(ABCD1):c.357C>T (p.Ala119=)	215	ABCD1	Likely benign	rs1603231862	RCV000928618\|RCV001456050;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991078	152991078	X:g.152991078C>T	-
NM_000033.4(ABCD1):c.366C>T (p.Ile122_Val123=)	215	ABCD1	Likely benign	-1	RCV003029173;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991087	152991087	NC_000023.10:g.152991087C>T	-
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)	215	ABCD1	Uncertain significance	-1	RCV003084182;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991092	152991092	NC_000023.10:g.152991092G>A	-
NM_000033.4(ABCD1):c.372C>G (p.Arg124=)	215	ABCD1	Likely benign	-1	RCV002132608;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991093	152991093	152991093	-
NM_000033.4(ABCD1):c.381G>A (p.Pro127=)	215	ABCD1	Likely benign	-1	RCV001448499;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991102	152991102	152991102	-
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002355439\|RCV003094394;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991104	152991104	152991104	-
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)	215	ABCD1	Uncertain significance	rs782359412	RCV000804526;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991107	152991107	X:g.152991107C>A	-
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys)	215	ABCD1	Uncertain significance	-1	RCV001943724;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991110	152991110	152991110	-
NM_000033.4(ABCD1):c.390T>C (p.Phe130=)	215	ABCD1	Likely benign	-1	RCV001431662;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991111	152991111	152991111	-
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)	215	ABCD1	Conflicting interpretations of pathogenicity	rs367799134	RCV000681640\|RCV001720188;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991113	152991113	X:g.152991113G>T	ClinGen:CA10549949	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)	215	ABCD1	Uncertain significance	-1	RCV003069063;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991115	152991115	NC_000023.10:g.152991115T>C	-
NM_000033.4(ABCD1):c.403C>T (p.Leu135=)	215	ABCD1	Likely benign	-1	RCV002113799\|RCV002352886;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991124	152991124	152991124	-
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)	215	ABCD1	Pathogenic	rs398123111	RCV000077964\|RCV002515752;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991127	152991127	X:g.152991127C>T	ClinGen:CA278415	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.408del (p.Gln136fs)	215	ABCD1	Pathogenic	rs1603231897	RCV000813592;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991129	152991129	X:g.152991129_152991129del	-
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)	215	ABCD1	Pathogenic	rs2091706547	RCV001223136\|RCV002322079\|RCV003132290;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	152991132	152991132	X:g.152991132G>A	-
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)	215	ABCD1	Likely pathogenic	rs1557052351	RCV000633478;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991133	152991135	NC_000023.10:g.152991133CTC[1]	ClinGen:CA658799881	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)	215	ABCD1	Likely benign	rs782197275	RCV000929641;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991135	152991135	X:g.152991135C>T	-
NM_000033.4(ABCD1):c.414C>A (p.Leu138_Leu139=)	215	ABCD1	Likely benign	-1	RCV002741202;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991135	152991135	NC_000023.10:g.152991135C>A	-
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs74315279	RCV000513392\|RCV001087539\|RCV002329212;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991141	152991141	X:g.152991141C>A	ClinGen:CA10549951	CN517202 not provided;
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	215	ABCD1	Pathogenic	rs193922097	RCV000029289\|RCV000723567;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991142	152991142	X:g.152991142G>A	ClinGen:CA278381,UniProtKB:P33897#VAR_000033	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)	215	ABCD1	Likely pathogenic	rs1603231911	RCV000853228;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991143	152991143	X:g.152991143C>T	-
NM_000033.4(ABCD1):c.423C>T (p.Ala141=)	215	ABCD1	Likely benign	-1	RCV002128334;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991144	152991144	152991144	-
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)	215	ABCD1	Benign	-1	RCV002579123;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991145	152991145	NC_000023.10:g.152991145C>G	-
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)	215	ABCD1	Likely pathogenic	-1	RCV003040508;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991151	152991151	NC_000023.10:g.152991151G>A	-
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)	215	ABCD1	Uncertain significance	rs1292006620	RCV000693896;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991154	152991154	NC_000023.10:g.152991154A>G	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.435C>G (p.Thr145_Phe146=)	215	ABCD1	Likely benign	-1	RCV002766199;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991156	152991156	NC_000023.10:g.152991156C>G	-
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)	215	ABCD1	Benign	rs782720024	RCV000946132;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991157	152991157	X:g.152991157T>A	-
NM_000033.4(ABCD1):c.438C>T (p.Phe146_Val147=)	215	ABCD1	Likely benign	-1	RCV002756124;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991159	152991159	NC_000023.10:g.152991159C>T	-
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile)	215	ABCD1	Likely benign	-1	RCV003104321;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991160	152991160	NC_000023.10:g.152991160G>A	-
NM_000033.4(ABCD1):c.441C>T (p.Val147=)	215	ABCD1	Likely benign	-1	RCV002187588;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991162	152991162	152991162	-
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)	215	ABCD1	Likely pathogenic	rs1557052362	RCV000547607;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991163	152991163	X:g.152991163A>T	ClinGen:CA415098863	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557052362	RCV001069371;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991163	152991163	X:g.152991163A>G	-
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	215	ABCD1	Likely pathogenic	rs128624216	RCV000012049\|RCV001268346;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991164	152991164	X:g.152991164A>G	ClinGen:CA278103,UniProtKB:P33897#VAR_000034,OMIM:300371.0006	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)	215	ABCD1	Likely pathogenic	-1	RCV002889427;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991172	152991172	NC_000023.10:g.152991172A>G	-
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569540692	RCV000689892\|RCV001564691;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991173	152991173	X:g.152991173T>C	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	215	ABCD1	Pathogenic/Likely pathogenic	rs1569540693	RCV000700171\|RCV001288421;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991175	152991175	NC_000023.10:g.152991175C>T	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)	215	ABCD1	Likely pathogenic	rs1569540693	RCV001290372;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991175	152991175	152991175	-
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)	215	ABCD1	Likely pathogenic	-1	RCV001993926;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991175	152991175	152991175	-
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)	215	ABCD1	Pathogenic/Likely pathogenic	-1	RCV002046321\|RCV003138061;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991176	152991176	152991176	-
NM_000033.4(ABCD1):c.460C>T (p.Leu154=)	215	ABCD1	Likely benign	-1	RCV001395462;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991181	152991181	152991181	-
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp)	215	ABCD1	Uncertain significance	-1	RCV001984207;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991188	152991188	152991188	-
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)	215	ABCD1	Pathogenic	-1	RCV003066400;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991190	152991190	NC_000023.10:g.152991190C>T	-
NM_000033.4(ABCD1):c.471A>G (p.Gln157=)	215	ABCD1	Benign	rs151148684	RCV000557880\|RCV001637067\|RCV002314949;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152991192	152991192	NC_000023.10:g.152991192A>G	ClinGen:CA10549959	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)	215	ABCD1	Uncertain significance	-1	RCV002948216;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991194	152991194	NC_000023.10:g.152991194T>A	-
NM_000033.4(ABCD1):c.474G>A (p.Leu158_Ala159=)	215	ABCD1	Likely benign	-1	RCV003077353;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991195	152991195	NC_000023.10:g.152991195G>A	-
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly)	215	ABCD1	Benign	rs781871257	RCV000931098\|RCV001514186;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991197	152991197	X:g.152991197C>G	-
NM_000033.4(ABCD1):c.477C>T (p.Ala159=)	215	ABCD1	Likely benign	-1	RCV002206685;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991198	152991198	152991198	-
NM_000033.4(ABCD1):c.478C>T (p.Leu160=)	215	ABCD1	Likely benign	-1	RCV001444119;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991199	152991199	152991199	-
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)	215	ABCD1	Pathogenic	rs2091707324	RCV001252970;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991200	152991200	X:g.152991200T>C	-
NM_000033.4(ABCD1):c.480G>A (p.Leu160=)	215	ABCD1	Likely benign	-1	RCV001416870;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991201	152991201	152991201	-
NM_000033.4(ABCD1):c.483G>A (p.Ser161=)	215	ABCD1	Likely benign	rs369052808	RCV000977672\|RCV001407440;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991204	152991204	X:g.152991204G>A	-
NM_000033.4(ABCD1):c.483del (p.Phe162fs)	215	ABCD1	Pathogenic	rs2091707458	RCV001235837;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991204	152991204	X:g.152991204_152991204del	-
NM_000033.4(ABCD1):c.483G>T (p.Ser161=)	215	ABCD1	Likely benign	-1	RCV001398812;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991204	152991204	152991204	-
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)	215	ABCD1	Uncertain significance	-1	RCV001571012\|RCV001882676;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991206	152991206	152991206	-
NM_000033.4(ABCD1):c.487del (p.Arg163fs)	215	ABCD1	Pathogenic	-1	RCV002948127;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991207	152991207	NC_000023.10:g.152991208del	-
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	215	ABCD1	Pathogenic/Likely pathogenic	rs1569540695	RCV000761213\|RCV001784375;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991208	152991208	NC_000023.10:g.152991208C>T	-
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)	215	ABCD1	Likely pathogenic	-1	RCV001885174;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991208	152991208	152991208	-
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)	215	ABCD1	Likely pathogenic	rs1057517954	RCV000414525\|RCV000699535\|RCV002338970;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991209	152991209	X:g.152991209G>A	ClinGen:CA16043184	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)	215	ABCD1	Likely pathogenic	-1	RCV002541171;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991209	152991209	152991209	-
NM_000033.4(ABCD1):c.489C>T (p.Arg163_Ser164=)	215	ABCD1	Likely benign	-1	RCV002876297;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991210	152991210	NC_000023.10:g.152991210C>T	-
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)	215	ABCD1	Uncertain significance	rs781850760	RCV001165780\|RCV001532217;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991214	152991214	X:g.152991214C>T	-
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	215	ABCD1	Pathogenic/Likely pathogenic	rs398123112	RCV000077966\|RCV001800384;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991216	152991238	X:g.152991216_152991238del	ClinGen:CA278417	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.495T>G (p.Arg165=)	215	ABCD1	Likely benign	-1	RCV002091602;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991216	152991216	152991216	-
NM_000033.4(ABCD1):c.498G>A (p.Leu166_Val167=)	215	ABCD1	Likely benign	-1	RCV003044733;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991219	152991219	NC_000023.10:g.152991219G>A	-
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)	215	ABCD1	Uncertain significance	-1	RCV003048290;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991220	152991220	NC_000023.10:g.152991220G>C	-
NM_000033.4(ABCD1):c.501G>C (p.Val167=)	215	ABCD1	Likely benign	-1	RCV002164624;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991222	152991222	152991222	-
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)	215	ABCD1	Benign/Likely benign	rs782453684	RCV000877935\|RCV002336863;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991225	152991225	X:g.152991225C>G	-
NM_000033.4(ABCD1):c.507C>T (p.His169=)	215	ABCD1	Likely benign	-1	RCV001452877;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991228	152991228	152991228	-
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782293513	RCV000798341\|RCV001575604;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991229	152991229	X:g.152991229G>A	-
NM_000033.4(ABCD1):c.513C>T (p.Tyr171_Arg172=)	215	ABCD1	Likely benign	-1	RCV002861716;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991234	152991234	NC_000023.10:g.152991234C>T	-
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)	215	ABCD1	Likely benign	rs541171928	RCV000805426;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991236	152991236	X:g.152991236G>A	-
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)	215	ABCD1	Pathogenic	rs128624217	RCV000012050;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991241	152991241	X:g.152991241T>G	ClinGen:CA278104,UniProtKB:P33897#VAR_000039,OMIM:300371.0007	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	215	ABCD1	Pathogenic	rs1557052390	RCV000536329\|RCV001783036;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991242	152991242	X:g.152991242A>G	ClinGen:CA415099025	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557052390	RCV000850177;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991242	152991242	X:g.152991242A>C	-
NM_000033.4(ABCD1):c.524_526del (p.Phe175del)	215	ABCD1	Pathogenic	rs2091707872	RCV001253401;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991243	152991245	X:g.152991243_152991245del	-
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)	215	ABCD1	Pathogenic	-1	RCV001874529;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991243	152991243	152991243	-
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)	215	ABCD1	Uncertain significance	rs1569540700	RCV000755765\|RCV001339930;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991245	152991245	NC_000023.10:g.152991245T>A	-
NM_000033.4(ABCD1):c.528C>G (p.Ser176=)	215	ABCD1	Likely benign	-1	RCV001417048;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991249	152991249	152991249	-
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	215	ABCD1	Pathogenic	rs1057516052	RCV000408645\|RCV001290674;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991250	152991250	X:g.152991250C>T	ClinGen:CA10654775	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)	215	ABCD1	Uncertain significance	rs2091708007	RCV001066031;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991251	152991251	X:g.152991251A>T	-
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)	215	ABCD1	Pathogenic	rs1557052397	RCV000551222;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991256	152991257	NC_000023.10:g.152991258_152991265dup	ClinGen:CA658659057	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091708150	RCV001227564\|RCV001815519;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991260	152991260	X:g.152991260A>G	-
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)	215	ABCD1	Uncertain significance	-1	RCV003095471;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991260	152991260	NC_000023.10:g.152991260A>C	-
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser)	215	ABCD1	Uncertain significance	-1	RCV001977491;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991263	152991263	152991263	-
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)	215	ABCD1	Uncertain significance	rs1603232005	RCV000794625\|RCV003141778;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991265	152991265	X:g.152991265C>G	-
NM_000033.4(ABCD1):c.546G>T (p.Arg182=)	215	ABCD1	Likely benign	-1	RCV002208451;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991267	152991267	152991267	-
NM_000033.4(ABCD1):c.549C>T (p.Val183=)	215	ABCD1	Likely benign	-1	RCV002165890;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991270	152991270	152991270	-
NM_000033.4(ABCD1):c.549C>G (p.Val183_Ser184=)	215	ABCD1	Likely benign	-1	RCV002601104;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991270	152991270	NC_000023.10:g.152991270C>G	-
NM_000033.4(ABCD1):c.561C>T (p.Asp187=)	215	ABCD1	Likely benign	-1	RCV001484189;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991282	152991282	152991282	-
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002345072\|RCV003096819;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991283	152991283	152991283	-
NM_000033.4(ABCD1):c.564G>C (p.Gly188=)	215	ABCD1	Likely benign	rs1603232017	RCV000981175;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991285	152991285	X:g.152991285G>C	-
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	215	ABCD1	Pathogenic/Likely pathogenic	rs1131691916	RCV000493301\|RCV000633486\|RCV002350104;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991286	152991286	X:g.152991286C>T	ClinGen:CA415099128	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)	215	ABCD1	Uncertain significance	-1	RCV003050668\|RCV003138473;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991287	152991287	NC_000023.10:g.152991287G>A	-
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)	215	ABCD1	Uncertain significance	-1	RCV002800154;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991293	152991293	NC_000023.10:g.152991293G>A	-
NM_000033.4(ABCD1):c.573C>A (p.Arg191_Asn192=)	215	ABCD1	Likely benign	-1	RCV002912477;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991294	152991294	NC_000023.10:g.152991294C>A	-
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)	215	ABCD1	Likely pathogenic	rs2091708534	RCV001214145;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991299	152991299	X:g.152991299C>G	-
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)	215	ABCD1	Uncertain significance	rs2091708552	RCV001213319;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991301	152991301	X:g.152991301G>A	-
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)	215	ABCD1	Uncertain significance	rs1569540703	RCV000690849\|RCV003140090;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991303	152991303	NC_000023.10:g.152991303C>G	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)	215	ABCD1	Uncertain significance	-1	RCV003013930;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991305	152991305	NC_000023.10:g.152991305A>G	-
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)	215	ABCD1	Pathogenic	-1	RCV001390636;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991307	152991308	152991306	-
NM_000033.4(ABCD1):c.589C>T (p.Leu197=)	215	ABCD1	Likely benign	-1	RCV002081084;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991310	152991310	152991310	-
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)	215	ABCD1	Uncertain significance	-1	RCV002851239;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991311	152991311	NC_000023.10:g.152991311T>G	-
NM_000033.4(ABCD1):c.591G>A (p.Leu197=)	215	ABCD1	Likely benign	-1	RCV001505164;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991312	152991312	152991312	-
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	215	ABCD1	Pathogenic/Likely pathogenic	rs1569540704	RCV000761214\|RCV003141740;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991314	152991314	NC_000023.10:g.152991314C>T	-
NM_000033.4(ABCD1):c.594G>C (p.Thr198=)	215	ABCD1	Likely benign	-1	RCV001480996;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991315	152991315	152991315	-
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)	215	ABCD1	Uncertain significance	rs1569540705	RCV000758252;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991316	152991316	NC_000023.10:g.152991316G>A	-
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)	215	ABCD1	Pathogenic	rs2091708688	RCV001342918;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991319	152991319	152991319	-
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu)	215	ABCD1	Uncertain significance	rs782724538	RCV001346548;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991321	152991321	152991321	-
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)	215	ABCD1	Benign	-1	RCV001522278;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991321	152991321	152991321	-
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)	215	ABCD1	Benign	rs139415350	RCV000710403\|RCV001085515\|RCV002317928;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991322	152991322	NC_000023.10:g.152991322G>A	-
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs398123113	RCV000077967\|RCV001390637;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991335	152991335	X:g.152991335C>A	ClinGen:CA278418	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)	215	ABCD1	Benign	rs782601474	RCV000954202;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991336	152991336	X:g.152991336G>A	-
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)	215	ABCD1	Likely pathogenic	rs2091708827	RCV001089938;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991338	152991339	X:g.152991339_152991339del	-
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002051048;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991352	152991352	152991352	-
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)	215	ABCD1	Pathogenic	-1	RCV001951233;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991353	152991353	152991353	-
NM_000033.4(ABCD1):c.633C>G (p.Leu211=)	215	ABCD1	Likely benign	-1	RCV002174084;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991354	152991354	152991354	-
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)	215	ABCD1	Uncertain significance	rs782567718	RCV000700507;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991359	152991359	NC_000023.10:g.152991359C>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe)	215	ABCD1	Uncertain significance	-1	RCV001895558;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991359	152991359	152991359	-
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)	215	ABCD1	Uncertain significance	-1	RCV001364216;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991365	152991365	152991365	-
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)	215	ABCD1	Uncertain significance	rs1603232050	RCV000806342;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991368	152991368	X:g.152991368C>T	-
NM_000033.4(ABCD1):c.648C>G (p.Thr216=)	215	ABCD1	Likely benign	-1	RCV001466043;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991369	152991369	152991369	-
NM_000033.4(ABCD1):c.648C>T (p.Thr216_Lys217=)	215	ABCD1	Likely benign	-1	RCV002847552;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991369	152991369	NC_000023.10:g.152991369C>T	-
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)	215	ABCD1	Likely pathogenic	rs864309520	RCV000202647;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991372	152991372	X:g.152991372G>C	ClinGen:CA278563	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569540710	RCV000710404\|RCV000787041;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991374	152991374	NC_000023.10:g.152991374C>T	-
NM_000033.4(ABCD1):c.658C>T (p.Leu220=)	215	ABCD1	Likely benign	-1	RCV002200524;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991379	152991379	152991379	-
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)	215	ABCD1	Likely pathogenic	rs2091709142	RCV001219529;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991380	152991380	X:g.152991380T>C	-
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)	215	ABCD1	Likely pathogenic	rs2091709198	RCV001237757;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991382	152991382	X:g.152991382G>A	-
NM_000033.4(ABCD1):c.663C>T (p.Asp221=)	215	ABCD1	Likely benign	-1	RCV001487614;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991384	152991384	152991384	-
NM_000033.4(ABCD1):c.668_900+291del	215	ABCD1	Pathogenic	-1	RCV001384967;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991389	152991912	152991388	-
NM_000033.4(ABCD1):c.668C>T (p.Ala223Val)	215	ABCD1	Likely benign	-1	RCV001422613;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991389	152991389	152991389	-
NM_000033.4(ABCD1):c.669T>C (p.Ala223=)	215	ABCD1	Likely benign	-1	RCV002105573;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991390	152991390	152991390	-
NM_000033.4(ABCD1):c.671T>G (p.Val224Gly)	215	ABCD1	Uncertain significance	-1	RCV002251024;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991392	152991392	152991392	-
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)	215	ABCD1	Uncertain significance	rs1557052459	RCV000817236;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991394	152991394	X:g.152991394A>G	-
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)	215	ABCD1	Uncertain significance	-1	RCV002676401\|RCV003138329;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991395	152991395	NC_000023.10:g.152991395C>T	-
NM_000033.4(ABCD1):c.675T>C (p.Thr225=)	215	ABCD1	Likely benign	-1	RCV002163624;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991396	152991396	152991396	-
NM_000033.4(ABCD1):c.684C>T (p.Thr228=)	215	ABCD1	Likely benign	-1	RCV001431238;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991405	152991405	152991405	-
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091709505	RCV001289556;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991406	152991406	152991406	-
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp)	215	ABCD1	Benign	rs781932570	RCV000873793\|RCV002363284;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991412	152991412	X:g.152991412C>T	-
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV001477275;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991413	152991413	152991413	-
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)	215	ABCD1	Benign/Likely benign	rs147595334	RCV000347550\|RCV000517474\|RCV001706618\|RCV002314112;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152991417	152991417	X:g.152991417G>T	ClinGen:CA10549998	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.697del (p.Ala233fs)	215	ABCD1	Pathogenic	-1	RCV001385573;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991417	152991417	152991416	-
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)	215	ABCD1	Likely benign	-1	RCV001452982;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991417	152991417	152991417	-
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)	215	ABCD1	Uncertain significance	rs1557052478	RCV000675190\|RCV001855619\|RCV002360702;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991421	152991421	X:g.152991421C>T	-	CN517202 not provided;
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)	215	ABCD1	Uncertain significance	-1	RCV003027055;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991421	152991421	NC_000023.10:g.152991421C>G	-
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)	215	ABCD1	Uncertain significance	rs782723557	RCV000659184\|RCV000792616;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991422	152991422	NC_000023.10:g.152991422G>T	-	CN517202 not provided;
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)	215	ABCD1	Likely benign	-1	RCV002885618;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991422	152991422	NC_000023.10:g.152991422G>A	-
NM_000033.4(ABCD1):c.702C>T (p.Arg234=)	215	ABCD1	Likely benign	-1	RCV001437031;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991423	152991423	152991423	-
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)	215	ABCD1	Uncertain significance	-1	RCV002300255;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991427	152991427	152991427	-
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)	215	ABCD1	Likely benign	-1	RCV002574661;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991427	152991427	NC_000023.10:g.152991427C>T	-
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	215	ABCD1	Conflicting interpretations of pathogenicity	rs201455322	RCV000173052\|RCV000395710\|RCV002313018;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991428	152991428	X:g.152991428G>A	ClinGen:CA238545	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.708T>G (p.Arg236_Gly237=)	215	ABCD1	Likely benign	-1	RCV002858565;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991429	152991429	NC_000023.10:g.152991429T>G	-
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)	215	ABCD1	Uncertain significance	-1	RCV002304451;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991433	152991433	152991433	-
NM_000033.4(ABCD1):c.714C>T (p.Ala238=)	215	ABCD1	Likely benign	-1	RCV002171639;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991435	152991435	152991435	-
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)	215	ABCD1	Likely benign	-1	RCV002948749;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991436	152991436	NC_000023.10:g.152991436G>A	-
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)	215	ABCD1	Uncertain significance	-1	RCV002608178;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991437	152991437	NC_000023.10:g.152991437G>T	-
NM_000033.4(ABCD1):c.720A>C (p.Thr240=)	215	ABCD1	Likely benign	-1	RCV001499897;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991441	152991441	152991441	-
NM_000033.4(ABCD1):c.723del (p.Trp242fs)	215	ABCD1	Pathogenic	rs1603232111	RCV000795935;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991443	152991443	X:g.152991443_152991443del	-
NM_000033.4(ABCD1):c.729C>G (p.Pro243=)	215	ABCD1	Benign	-1	RCV002155178;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991450	152991450	152991450	-
NM_000033.4(ABCD1):c.732G>A (p.Ser244=)	215	ABCD1	Likely benign	-1	RCV002195182;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991453	152991453	152991453	-
NM_000033.4(ABCD1):c.732G>C (p.Ser244=)	215	ABCD1	Likely benign	-1	RCV002181736;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991453	152991453	152991453	-
NM_000033.4(ABCD1):c.738C>T (p.Ile246=)	215	ABCD1	Likely benign	-1	RCV002090382;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991459	152991459	152991459	-
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782487174	RCV000633488\|RCV001251421\|RCV003139959;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202	X	152991460	152991460	X:g.152991460G>A	ClinGen:CA10550007	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002385016\|RCV003138228\|RCV003099633;	N	MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991463	152991463	152991463	-
NM_000033.4(ABCD1):c.747C>G (p.Leu249=)	215	ABCD1	Likely benign	-1	RCV001422051;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991468	152991468	152991468	-
NM_000033.4(ABCD1):c.747C>T (p.Leu249=)	215	ABCD1	Likely benign	-1	RCV001440486;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991468	152991468	152991468	-
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del)	215	ABCD1	Likely pathogenic	rs2091710358	RCV001263478;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991469	152991471	X:g.152991469_152991471del	-
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)	215	ABCD1	Uncertain significance	-1	RCV002620533;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991469	152991469	NC_000023.10:g.152991469G>A	-
NM_000033.4(ABCD1):c.750G>C (p.Val250=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782196006	RCV000173050\|RCV002516575;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991471	152991471	X:g.152991471G>C	ClinGen:CA238543	CN169374 not specified;
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs200849757	RCV000681650;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991477	152991477	NC_000023.10:g.152991477C>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	215	ABCD1	Conflicting interpretations of pathogenicity	rs150151955	RCV000426591\|RCV000990974\|RCV001001199\|RCV002314128;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	X	152991478	152991478	X:g.152991478C>G	ClinGen:CA10550010	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)	215	ABCD1	Pathogenic	-1	RCV001908964;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991481	152991481	152991481	-
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	215	ABCD1	Pathogenic/Likely pathogenic	rs1131691743	RCV000493818\|RCV000633477\|RCV002395197;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991482	152991482	X:g.152991482C>T	ClinGen:CA415099842	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.762G>T (p.Thr254=)	215	ABCD1	Likely benign	-1	RCV002151119;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991483	152991483	152991483	-
NM_000033.4(ABCD1):c.762G>A (p.Thr254_Ala255=)	215	ABCD1	Likely benign	-1	RCV003068642;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991483	152991483	NC_000023.10:g.152991483G>A	-
NM_000033.4(ABCD1):c.762G>C (p.Thr254_Ala255=)	215	ABCD1	Likely benign	-1	RCV002649959;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991483	152991483	NC_000023.10:g.152991483G>C	-
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)	215	ABCD1	Pathogenic	rs1557052530	RCV000550301;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991486	152991487	X:g.152991486_152991487insAACG	ClinGen:CA658659058	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.765C>G (p.Ala255=)	215	ABCD1	Likely benign	-1	RCV002128180;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991486	152991486	152991486	-
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)	215	ABCD1	Benign	rs782236148	RCV001167360;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991489	152991489	X:g.152991489C>T	-
NM_000033.4(ABCD1):c.772C>T (p.Leu258_Arg259=)	215	ABCD1	Benign	-1	RCV002611849;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991493	152991493	NC_000023.10:g.152991493C>T	-
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro)	215	ABCD1	Uncertain significance	rs1569540731	RCV000692778;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991494	152991494	NC_000023.10:g.152991494T>C	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)	215	ABCD1	Uncertain significance	-1	RCV001581240\|RCV001832795;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991497	152991497	152991497	-
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)	215	ABCD1	Pathogenic/Likely pathogenic	-1	RCV001389361\|RCV002413919\|RCV003136059;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	152991506	152991506	152991506	-
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)	215	ABCD1	Pathogenic	-1	RCV001380623;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991506	152991538	152991505	-
NM_000033.4(ABCD1):c.786G>A (p.Ser262=)	215	ABCD1	Likely benign	-1	RCV001429695;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991507	152991507	152991507	-
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)	215	ABCD1	Likely pathogenic	rs2091710960	RCV001206383;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991508	152991508	X:g.152991508C>T	-
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)	215	ABCD1	Uncertain significance	rs1603232171	RCV000823464;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991515	152991515	X:g.152991515T>C	-
NM_000033.4(ABCD1):c.795C>T (p.Phe265=)	215	ABCD1	Likely benign	rs782336092	RCV000909922;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991516	152991516	X:g.152991516C>T	-
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	215	ABCD1	Pathogenic	rs128624218	RCV000012051\|RCV000723479\|RCV001358196\|RCV002415409;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106, Orphanet:93349\|MeSH:D030342,MedGen:C0950123	X	152991517	152991517	X:g.152991517G>A	ClinGen:CA278105,UniProtKB:P33897#VAR_000052,OMIM:300371.0008	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002027918\|RCV003138062;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991517	152991517	152991517	-
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)	215	ABCD1	Pathogenic	rs2091711094	RCV001070251;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991518	152991518	X:g.152991518G>A	-
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)	215	ABCD1	Likely pathogenic	-1	RCV002731061;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991518	152991518	NC_000023.10:g.152991518G>C	-
NM_000033.4(ABCD1):c.798G>A (p.Gly266=)	215	ABCD1	Likely benign	-1	RCV001454783;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991519	152991519	152991519	-
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)	215	ABCD1	Uncertain significance	-1	RCV003050669\|RCV003138474;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991520	152991520	NC_000023.10:g.152991520G>A	-
NM_000033.4(ABCD1):c.804G>A (p.Leu268=)	215	ABCD1	Likely benign	-1	RCV002161953;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991525	152991525	152991525	-
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)	215	ABCD1	Uncertain significance	rs2091711117	RCV001212280;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991526	152991526	X:g.152991526G>A	-
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)	215	ABCD1	Uncertain significance	-1	RCV002997037;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991527	152991527	NC_000023.10:g.152991527T>G	-
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781970988	RCV000433948\|RCV001835799;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991530	152991530	X:g.152991530C>T	ClinGen:CA10550017	CN169374 not specified;
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)	215	ABCD1	Uncertain significance	rs2091711183	RCV001055925;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991536	152991536	X:g.152991536A>G	-
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser)	215	ABCD1	Uncertain significance	-1	RCV002025220;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991538	152991538	152991538	-
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val)	215	ABCD1	Uncertain significance	rs868992338	RCV000517907\|RCV001851420;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991539	152991539	X:g.152991539C>T	ClinGen:CA415100054	CN169374 not specified;
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu)	215	ABCD1	Uncertain significance	-1	RCV002008927;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991539	152991539	152991539	-
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)	215	ABCD1	Likely benign	rs782165410	RCV000941031;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991540	152991540	X:g.152991540G>A	-
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)	215	ABCD1	Uncertain significance	rs782760033	RCV000853229\|RCV003141870;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991541	152991541	X:g.152991541C>T	-
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)	215	ABCD1	Uncertain significance	rs2091711370	RCV001043120;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991542	152991550	X:g.152991542_152991550del	-
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV001580620\|RCV002569105;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991542	152991542	152991542	-
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782083931	RCV000434855\|RCV000507685\|RCV000695726\|RCV002411343;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152991544	152991544	X:g.152991544C>T	ClinGen:CA10550021	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.825G>A (p.Arg275=)	215	ABCD1	Likely benign	-1	RCV002125998;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991546	152991546	152991546	-
NM_000033.4(ABCD1):c.828G>A (p.Lys276=)	215	ABCD1	Likely benign	-1	RCV002072692;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991549	152991549	152991549	-
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)	215	ABCD1	Uncertain significance	-1	RCV003057276\|RCV003138456;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991549	152991549	NC_000023.10:g.152991549G>T	-
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)	215	ABCD1	Likely pathogenic	rs1603232195	RCV000807408\|RCV002245679;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991550	152991550	X:g.152991550G>A	-
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)	215	ABCD1	Likely pathogenic	-1	RCV001553605;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991550	152991550	152991550	-
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)	215	ABCD1	Likely pathogenic	rs2091711473	RCV001306698;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991551	152991551	152991551	-
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	215	ABCD1	Pathogenic/Likely pathogenic	rs193922098	RCV000029290\|RCV000721083\|RCV001781320;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:C2711754\|MedGen:CN517202	X	152991559	152991559	X:g.152991559C>T	ClinGen:CA278382,UniProtKB:P33897#VAR_013347	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)	215	ABCD1	Pathogenic	-1	RCV002866777;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991559	152991571	NC_000023.10:g.152991562_152991574del	-
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781904944	RCV001090114;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991560	152991560	X:g.152991560G>C	-
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781904944	RCV001226321\|RCV001587256;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991560	152991560	X:g.152991560G>A	-
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557052555	RCV000627370\|RCV001001992\|RCV001800831;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991564	152991564	X:g.152991564C>A	ClinGen:CA415100145	CN517202 not provided;
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)	215	ABCD1	Pathogenic	rs782509393	RCV001041848;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991568	152991568	X:g.152991568C>G	-
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)	215	ABCD1	Pathogenic	-1	RCV001958819;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991569	152991569	152991569	-
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091711722	RCV001260592\|RCV003135895;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991572	152991572	X:g.152991572C>T	-
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)	215	ABCD1	Pathogenic	-1	RCV001950801;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991572	152991572	152991572	-
NM_000033.4(ABCD1):c.852G>A (p.Ser284=)	215	ABCD1	Likely benign	-1	RCV001415306;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991573	152991573	152991573	-
NC_000023.10:g.(?_152991573)_(152995898_?)del	215	ABCD1	Pathogenic	-1	RCV001958953;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991573	152995898	-1	-
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)	215	ABCD1	Uncertain significance	rs782334088	RCV000755767\|RCV002536555;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991574	152991574	NC_000023.10:g.152991574C>T	-
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)	215	ABCD1	Uncertain significance	rs782334088	RCV001044072\|RCV003141962;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991574	152991574	X:g.152991574C>A	-
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)	215	ABCD1	Uncertain significance	-1	RCV001892058;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991574	152991574	152991574	-
NM_000033.4(ABCD1):c.855T>C (p.Arg285=)	215	ABCD1	Likely benign	-1	RCV001403454;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991576	152991576	152991576	-
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)	215	ABCD1	Likely benign	-1	RCV002599809;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991580	152991580	NC_000023.10:g.152991580G>A	-
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002512421\|RCV002569455;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991590	152991590	NC_000023.10:g.152991590C>T	-
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	215	ABCD1	Pathogenic	rs387906496	RCV000012066\|RCV000675191;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991591	152991593	X:g.152991591_152991593del	ClinGen:CA278118,OMIM:300371.0023	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)	215	ABCD1	Benign	rs782563177	RCV000882299;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991591	152991591	X:g.152991591G>A	-
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)	215	ABCD1	Pathogenic	rs128624213	RCV000012044;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991592	152991592	X:g.152991592G>A	ClinGen:CA278100,UniProtKB:P33897#VAR_000058,OMIM:300371.0001	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)	215	ABCD1	Likely pathogenic	-1	RCV001379121\|RCV001780291;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991594	152991594	152991594	-
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091712008	RCV001035803\|RCV002372745\|RCV003141940;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	152991595	152991595	X:g.152991595G>A	-
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)	215	ABCD1	Pathogenic	rs1557052573	RCV000633492;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991597	152991597	X:g.152991597G>C	ClinGen:CA415100288	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)	215	ABCD1	Likely pathogenic	rs1603232237	RCV000990975;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991599	152991599	X:g.152991599T>C	-
NM_000033.4(ABCD1):c.879C>T (p.Ile293=)	215	ABCD1	Likely benign	-1	RCV001395982;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991600	152991600	152991600	-
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1131691954	RCV000492856\|RCV000686131\|RCV001420950;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374	X	152991601	152991601	X:g.152991601G>A	ClinGen:CA415100308	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)	215	ABCD1	Uncertain significance	rs2091712106	RCV001236161;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991602	152991602	X:g.152991602C>T	-
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)	215	ABCD1	Pathogenic	-1	RCV001724778;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991607	152991608	152991607	-
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	215	ABCD1	Pathogenic/Likely pathogenic	rs797044610	RCV000173051\|RCV000724285\|RCV002372080;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152991608	152991608	X:g.152991608A>G	ClinGen:CA278493,UniProtKB:P33897#VAR_009370	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=)	215	ABCD1	Likely benign	-1	RCV002172128;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991609	152991609	152991609	-
NM_000033.4(ABCD1):c.893dup (p.His299fs)	215	ABCD1	Pathogenic	-1	RCV003005969;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991609	152991610	NC_000023.10:g.152991614dup	-
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1603232243	RCV000824100;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991613	152991613	X:g.152991613G>A	-
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs202195978	RCV000872653;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991616	152991616	X:g.152991616C>T	-
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)	215	ABCD1	Uncertain significance	rs782430461	RCV001034913\|RCV001843369;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374	X	152991617	152991617	X:g.152991617A>G	-
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)	215	ABCD1	Pathogenic	-1	RCV000012068;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991621	152991621	NC_000023.10:g.152991621G>A	OMIM:300371.0025	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.900+2T>G	215	ABCD1	Uncertain significance	rs2091712381	RCV001195762;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991623	152991623	X:g.152991623T>G	-
NM_000033.4(ABCD1):c.900+2T>C	215	ABCD1	Likely pathogenic	-1	RCV001526996;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991623	152991623	152991623	-
NM_000033.4(ABCD1):c.900+6dup	215	ABCD1	Benign	-1	RCV002671911;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991623	152991624	NC_000023.10:g.152991627dup	-
NM_000033.4(ABCD1):c.900+7C>T	215	ABCD1	Uncertain significance	rs2091712393	RCV001167361\|RCV001811678;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152991628	152991628	X:g.152991628C>T	-
NM_000033.4(ABCD1):c.900+8A>G	215	ABCD1	Likely benign	-1	RCV001438366;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991629	152991629	152991629	-
NM_000033.4(ABCD1):c.900+10G>C	215	ABCD1	Likely benign	-1	RCV001433207;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991631	152991631	152991631	-
NC_000023.10:g.(?_152994617)_(153006193_?)del	215	ABCD1	Pathogenic	-1	RCV001975207;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994617	153006193	-1	-
NM_000033.4(ABCD1):c.901-16C>T	215	ABCD1	Benign/Likely benign	rs41302176	RCV000077968\|RCV001519003\|RCV001795051;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152994671	152994671	X:g.152994671C>T	ClinGen:CA145615	CN169374 not specified;
NM_000033.4(ABCD1):c.901-5dup	215	ABCD1	Benign	-1	RCV002976431;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994676	152994677	NC_000023.10:g.152994682dup	-
NM_000033.4(ABCD1):c.901-10C>T	215	ABCD1	Benign	rs2269365	RCV000289211\|RCV000292632\|RCV001711863;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202	X	152994677	152994677	X:g.152994677C>T	ClinGen:CA10550049	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.901-5del	215	ABCD1	Benign/Likely benign	-1	RCV002118179\|RCV002372941;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152994677	152994677	152994676	-
NM_000033.4(ABCD1):c.901-9_903del	215	ABCD1	Likely pathogenic	-1	RCV001379281;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994678	152994689	152994677	-
NM_000033.4(ABCD1):c.901-9C>T	215	ABCD1	Likely benign	-1	RCV001467855;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994678	152994678	152994678	-
NM_000033.4(ABCD1):c.901-8C>T	215	ABCD1	Likely benign	-1	RCV003043763;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994679	152994679	NC_000023.10:g.152994679C>T	-
NM_000033.4(ABCD1):c.901-5C>T	215	ABCD1	Benign/Likely benign	rs782603062	RCV000874643\|RCV001000377\|RCV001552172\|RCV002372483;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152994682	152994682	X:g.152994682C>T	-
NM_000033.4(ABCD1):c.901-5C>A	215	ABCD1	Uncertain significance	-1	RCV001918693;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994682	152994682	152994682	-
NM_000033.4(ABCD1):c.901-4G>C	215	ABCD1	Likely benign	-1	RCV001406533;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994683	152994683	152994683	-
NM_000033.4(ABCD1):c.901-4G>A	215	ABCD1	Benign	-1	RCV001514540;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994683	152994683	152994683	-
NM_000033.4(ABCD1):c.901-2A>C	215	ABCD1	Pathogenic	-1	RCV003136152;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994685	152994685	152994685	-
NM_000033.4(ABCD1):c.901-2A>G	215	ABCD1	Pathogenic	-1	RCV001885173;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994685	152994685	152994685	-
NM_000033.4(ABCD1):c.901-1G>A	215	ABCD1	Pathogenic	-1	RCV001591534\|RCV002221634;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994686	152994686	152994686	-
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)	215	ABCD1	Likely pathogenic	rs2091726242	RCV001261538;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994690	152994691	152994690	-
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)	215	ABCD1	Pathogenic	-1	RCV003066401;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994690	152994690	NC_000023.10:g.152994690G>A	-
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)	215	ABCD1	Uncertain significance	rs2091726251	RCV001327376;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994691	152994691	152994691	-
NM_000033.4(ABCD1):c.906G>A (p.Glu302=)	215	ABCD1	Likely benign	-1	RCV002087456;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994692	152994692	152994692	-
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)	215	ABCD1	Likely pathogenic	-1	RCV002237198;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994693	152994722	152994692	-
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)	215	ABCD1	Pathogenic	rs1603233089	RCV000807056\|RCV003132063;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152994705	152994705	X:g.152994705C>T	-
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)	215	ABCD1	Uncertain significance	rs782419107	RCV001054987;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994708	152994708	X:g.152994708C>T	-
NM_000033.4(ABCD1):c.923G>A (p.Arg308His)	215	ABCD1	Likely benign	-1	RCV001424820;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994709	152994709	152994709	-
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro)	215	ABCD1	Uncertain significance	-1	RCV001973374;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994709	152994709	152994709	-
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)	215	ABCD1	Pathogenic/Likely pathogenic	-1	RCV001823692;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994717	152994717	152994717	-
NM_000033.4(ABCD1):c.936C>T (p.Asp312=)	215	ABCD1	Likely benign	-1	RCV001448589;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994722	152994722	152994722	-
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)	215	ABCD1	Uncertain significance	rs2091726449	RCV001054374;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994724	152994724	X:g.152994724T>A	-
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)	215	ABCD1	Uncertain significance	rs2091726463	RCV001053476;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994729	152994729	X:g.152994729T>C	-
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)	215	ABCD1	Likely benign	rs782726660	RCV001167362;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994730	152994730	X:g.152994730C>T	-
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)	215	ABCD1	Benign/Likely benign	rs145545199	RCV000876378\|RCV001619856\|RCV002444961;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	152994731	152994731	X:g.152994731G>A	-
NM_000033.4(ABCD1):c.945G>T (p.Ser315=)	215	ABCD1	Likely benign	-1	RCV001455641;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994731	152994731	152994731	-
NM_000033.4(ABCD1):c.948G>A (p.Gln316=)	215	ABCD1	Likely benign	-1	RCV001469883;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994734	152994734	152994734	-
NM_000033.4(ABCD1):c.951C>A (p.Ile317=)	215	ABCD1	Likely benign	-1	RCV001431113;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994737	152994737	152994737	-
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)	215	ABCD1	Likely pathogenic	-1	RCV002306581;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994737	152994738	152994736	-
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)	215	ABCD1	Uncertain significance	rs879952582	RCV001330913;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994741	152994741	152994741	-
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)	215	ABCD1	Uncertain significance	-1	RCV002303001;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994742	152994742	152994742	-
NM_000033.4(ABCD1):c.960C>T (p.Ile320=)	215	ABCD1	Likely benign	-1	RCV001419619;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994746	152994746	152994746	-
NM_000033.4(ABCD1):c.963T>C (p.Leu321_Leu322=)	215	ABCD1	Likely benign	-1	RCV003111803;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994749	152994749	NC_000023.10:g.152994749T>C	-
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)	215	ABCD1	Pathogenic	-1	RCV001380273;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994751	152994751	152994751	-
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)	215	ABCD1	Uncertain significance	-1	RCV003089500\|RCV003138507;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152994756	152994756	NC_000023.10:g.152994756C>T	-
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro)	215	ABCD1	Uncertain significance	-1	RCV001867279;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994757	152994757	152994757	-
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=)	215	ABCD1	Likely benign	-1	RCV001479229;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994767	152994767	152994767	-
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile)	215	ABCD1	Uncertain significance	-1	RCV001929654;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994768	152994768	152994768	-
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly)	215	ABCD1	Uncertain significance	-1	RCV002011613;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994769	152994769	152994769	-
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)	215	ABCD1	Uncertain significance	rs1603233113	RCV000799162;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994771	152994788	X:g.152994771_152994788del	-
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)	215	ABCD1	Uncertain significance	-1	RCV003122008;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994772	152994772	NC_000023.10:g.152994772T>C	-
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1557053241	RCV001250535;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994778	152994778	X:g.152994778A>G	-
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)	215	ABCD1	Pathogenic	rs2091726671	RCV001036486;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994780	152994780	X:g.152994780C>T	-
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)	215	ABCD1	Uncertain significance	-1	RCV002828180;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994781	152994781	NC_000023.10:g.152994781A>G	-
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=)	215	ABCD1	Likely benign	-1	RCV001460715;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994788	152994788	152994788	-
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)	215	ABCD1	Likely pathogenic	-1	RCV002741931;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994792	152994792	NC_000023.10:g.152994792A>G	-
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091726692	RCV001873591\|RCV002320386;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152994796	152994796	X:g.152994796A>G	-
NM_000033.4(ABCD1):c.1014G>A (p.Val338_Trp339=)	215	ABCD1	Benign	-1	RCV002881800;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994800	152994800	NC_000023.10:g.152994800G>A	-
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)	215	ABCD1	Likely pathogenic	rs1603233120	RCV000853225;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994801	152994801	X:g.152994801T>C	-
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)	215	ABCD1	Pathogenic	-1	RCV003066402;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994802	152994802	NC_000023.10:g.152994802G>A	-
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)	215	ABCD1	Uncertain significance	-1	RCV002886463;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994805	152994805	NC_000023.10:g.152994805G>A	-
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=)	215	ABCD1	Likely benign	-1	RCV001501054\|RCV002384842;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152994806	152994806	152994806	-
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)	215	ABCD1	Uncertain significance	rs782492154	RCV001198968;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994807	152994807	X:g.152994807G>A	-
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)	215	ABCD1	Uncertain significance	rs782492154	RCV001249461;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994807	152994807	X:g.152994807G>T	-
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)	215	ABCD1	Uncertain significance	-1	RCV002712128\|RCV003138341;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152994811	152994811	NC_000023.10:g.152994811C>T	-
NM_000033.4(ABCD1):c.1026G>A (p.Ser342=)	215	ABCD1	Likely benign	-1	RCV002113096;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994812	152994812	152994812	-
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)	215	ABCD1	Likely pathogenic	rs2091726796	RCV001220804;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994813	152994813	X:g.152994813G>C	-
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)	215	ABCD1	Likely pathogenic	rs2091726809	RCV001041034;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994814	152994814	X:g.152994814G>A	-
NM_000033.4(ABCD1):c.1029C>T (p.Gly343_Leu344=)	215	ABCD1	Likely benign	-1	RCV003052931;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994815	152994815	NC_000023.10:g.152994815C>T	-
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)	215	ABCD1	Uncertain significance	-1	RCV001978727\|RCV003136346;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	152994817	152994817	152994817	-
NM_000033.4(ABCD1):c.1035C>T (p.Leu345=)	215	ABCD1	Likely benign	-1	RCV002179109;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994821	152994821	152994821	-
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)	215	ABCD1	Benign/Likely benign	rs185931852	RCV000633494\|RCV002317383;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	152994833	152994833	X:g.152994833C>A	ClinGen:CA10550068	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1047C>T (p.Val349=)	215	ABCD1	Likely benign	-1	RCV001458485;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994833	152994833	152994833	-
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)	215	ABCD1	Likely pathogenic	-1	RCV002310219;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994833	152994842	152994833	-
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)	215	ABCD1	Likely benign	rs1887821307	RCV001279585;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994839	152994839	X:g.152994839C>T	-
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=)	215	ABCD1	Likely benign	-1	RCV001396281;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994845	152994845	152994845	-
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=)	215	ABCD1	Benign	-1	RCV001510251;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994854	152994854	152994854	-
NM_000033.4(ABCD1):c.1071C>T (p.Tyr357=)	215	ABCD1	Likely benign	-1	RCV002074803;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994857	152994857	152994857	-
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)	215	ABCD1	Likely benign	-1	RCV003011343;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994858	152994858	NC_000023.10:g.152994858T>C	-
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)	215	ABCD1	Likely pathogenic	-1	RCV002309619;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994861	152994861	152994861	-
NM_000033.4(ABCD1):c.1077G>A (p.Glu359_Ser360=)	215	ABCD1	Benign	-1	RCV002995259;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994863	152994863	NC_000023.10:g.152994863G>A	-
NM_000033.4(ABCD1):c.1081+1G>A	215	ABCD1	Pathogenic	rs2091727061	RCV001045481;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994868	152994868	X:g.152994868G>A	-
NM_000033.4(ABCD1):c.1081+5G>T	215	ABCD1	Uncertain significance	-1	RCV002791667;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994872	152994872	NC_000023.10:g.152994872G>T	-
NM_000033.4(ABCD1):c.1081+8C>T	215	ABCD1	Likely benign	-1	RCV001466510;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994875	152994875	152994875	-
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG	215	ABCD1	Likely benign	-1	RCV001501227;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994876	152994877	152994876	-
NM_000033.4(ABCD1):c.1081+20G>C	215	ABCD1	Likely benign	-1	RCV002663980;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152994887	152994887	NC_000023.10:g.152994887G>C	-
NC_000023.10:g.(?_152996855)_(153006103_?)del	215	ABCD1	Pathogenic	-1	RCV001951363;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152996855	153006103	-1	-
NC_000023.10:g.(?_152999896)_(153005554_?)del	215	ABCD1	Pathogenic	-1	RCV003119109;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152999896	153005554		-
NC_000023.11:g.(?_153736092)_(153743755_?)del	215	ABCD1	Pathogenic	-1	RCV001032810;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001546	153009209	-1	-
NC_000023.10:g.(?_153001546)_(153002725_?)del	215	ABCD1	Pathogenic	-1	RCV001972492;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001546	153002725	-1	-
NC_000023.10:g.(?_153001546)_(153009189_?)del	215	ABCD1	Pathogenic	-1	RCV003119104;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001546	153009189		-
NC_000023.10:g.(?_153001546)_(154563736_?)dup	215	ABCD1	Uncertain significance	-1	RCV003119108;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001546	154563736		-
NM_000033.4(ABCD1):c.1082-19C>G	215	ABCD1	Benign	-1	RCV002174780;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001547	153001547	153001547	-
NM_000033.4(ABCD1):c.1082-16C>T	215	ABCD1	Likely benign	-1	RCV002200807;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001550	153001550	153001550	-
NM_000033.4(ABCD1):c.1082-13T>C	215	ABCD1	Likely benign	-1	RCV002094505;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001553	153001553	153001553	-
NM_000033.4(ABCD1):c.1082-12G>A	215	ABCD1	Uncertain significance	-1	RCV001887829;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001554	153001554	153001554	-
NC_000023.11:g.(?_153736102)_(153743735_?)del	215	ABCD1	Pathogenic	-1	RCV001031289;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001556	153009189	-1	-
NC_000023.11:g.(?_153736102)_(153743745_?)del	215	ABCD1	Pathogenic	-1	RCV001031260;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001556	153009199	-1	-
NM_000033.4(ABCD1):c.1082-8C>T	215	ABCD1	Likely benign	-1	RCV002605527;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001558	153001558	NC_000023.10:g.153001558C>T	-
NM_000033.4(ABCD1):c.1082-4G>A	215	ABCD1	Likely benign	-1	RCV002185078;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001562	153001562	153001562	-
NM_000033.4(ABCD1):c.1082-1G>A	215	ABCD1	Likely pathogenic	rs1557054153	RCV000519461\|RCV001377327;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001565	153001565	X:g.153001565G>A	ClinGen:CA415104345	CN517202 not provided;
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly)	215	ABCD1	Uncertain significance	-1	RCV002007107;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001566	153001566	153001566	-
NM_000033.4(ABCD1):c.1083T>C (p.Asp361_Ala362=)	215	ABCD1	Likely benign	-1	RCV003091823;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001567	153001567	NC_000023.10:g.153001567T>C	-
NM_000033.4(ABCD1):c.1089G>A (p.Glu363_Ala364=)	215	ABCD1	Likely benign	-1	RCV002811800;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001573	153001573	NC_000023.10:g.153001573G>A	-
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)	215	ABCD1	Uncertain significance	-1	RCV002837787;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001575	153001575	NC_000023.10:g.153001575C>G	-
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)	215	ABCD1	Likely benign	rs782250326	RCV000941450;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001576	153001576	X:g.153001576C>T	-
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782250326	RCV001167363;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001576	153001576	X:g.153001576C>G	-
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)	215	ABCD1	Pathogenic	-1	RCV002837788;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001576	153001577	NC_000023.10:g.153001576_153001577insTTTGCAG	-
NM_000033.4(ABCD1):c.1093G>A (p.Val365Met)	215	ABCD1	Likely benign	-1	RCV001425679;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001577	153001577	153001577	-
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)	215	ABCD1	Pathogenic	rs1569541000	RCV000710054;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001580	153001580	NC_000023.10:g.153001580A>T	-
NM_000033.4(ABCD1):c.1098G>A (p.Lys366_Lys367=)	215	ABCD1	Benign	-1	RCV002962572;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001582	153001582	NC_000023.10:g.153001582G>A	-
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)	215	ABCD1	Pathogenic	rs1603234451	RCV000793335;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001584	153001585	X:g.153001584_153001585insGGCAGCCT	-
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=)	215	ABCD1	Likely benign	-1	RCV002155161;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001591	153001591	153001591	-
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)	215	ABCD1	Uncertain significance	rs782627940	RCV000723443\|RCV001826897;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001598	153001600	X:g.153001598_153001600del	ClinGen:CA243082	CN169374 not specified;
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)	215	ABCD1	Benign	rs368606000	RCV000873719\|RCV001522984;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001601	153001601	X:g.153001601A>G	-
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)	215	ABCD1	Likely pathogenic	-1	RCV002306822;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001601	153001601	153001601	-
NM_000033.4(ABCD1):c.1119G>A (p.Lys373_Glu374=)	215	ABCD1	Likely benign	-1	RCV002837688;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001603	153001603	NC_000023.10:g.153001603G>A	-
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)	215	ABCD1	Benign	-1	RCV002575451;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001604	153001604	NC_000023.10:g.153001604G>A	-
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)	215	ABCD1	Benign	-1	RCV001522279;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001609	153001609	153001609	-
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)	215	ABCD1	Pathogenic	rs782266592	RCV000691168;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001610	153001610	NC_000023.10:g.153001610G>T	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)	215	ABCD1	Benign	-1	RCV003050671;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001610	153001610	NC_000023.10:g.153001610G>C	-
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)	215	ABCD1	Pathogenic	-1	RCV001385753;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001622	153001622	153001622	-
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)	215	ABCD1	Uncertain significance	-1	RCV001987814\|RCV003136357;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001622	153001622	153001622	-
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)	215	ABCD1	Uncertain significance	rs781983308	RCV000490160\|RCV000814299;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001625	153001625	NC_000023.10:g.153001625C>T	ClinGen:CA10550145	CN169374 not specified;
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His)	215	ABCD1	Likely benign	rs782755297	RCV000886660;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001626	153001626	X:g.153001626G>A	-
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)	215	ABCD1	Likely pathogenic	rs1603234466	RCV000990976;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001628	153001628	X:g.153001628A>C	-
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg)	215	ABCD1	Uncertain significance	-1	RCV002019003;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001629	153001629	153001629	-
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)	215	ABCD1	Benign	-1	RCV001516067;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001636	153001636	153001636	-
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)	215	ABCD1	Uncertain significance	rs1205548762	RCV001063964;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001640	153001640	X:g.153001640A>C	-
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser)	215	ABCD1	Uncertain significance	-1	RCV001372215;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001640	153001640	153001640	-
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)	215	ABCD1	Uncertain significance	rs1603234474	RCV000821703;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001641	153001641	X:g.153001641C>G	-
NM_000033.4(ABCD1):c.1158T>A (p.Thr386_Ile387=)	215	ABCD1	Likely benign	-1	RCV002898963;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001642	153001642	NC_000023.10:g.153001642T>A	-
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)	215	ABCD1	Uncertain significance	rs2091749101	RCV001035623;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001646	153001646	X:g.153001646G>C	-
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=)	215	ABCD1	Likely benign	-1	RCV002094796;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001648	153001648	153001648	-
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)	215	ABCD1	Pathogenic	rs128624215	RCV000012048;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001649	153001649	X:g.153001649C>G	ClinGen:CA278102,UniProtKB:P33897#VAR_000062,OMIM:300371.0005	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	215	ABCD1	Likely pathogenic	rs128624215	RCV000761215;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001649	153001649	NC_000023.10:g.153001649C>T	-
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	215	ABCD1	Pathogenic/Likely pathogenic	rs886044777	RCV000268436\|RCV000984141;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001650	153001650	NC_000023.10:g.153001650G>A	ClinGen:CA10603846,UniProtKB:P33897#VAR_000063	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1167C>T (p.Arg389_Asn390=)	215	ABCD1	Likely benign	-1	RCV002880793;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001651	153001651	NC_000023.10:g.153001651C>T	-
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557054173	RCV001039824;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001656	153001656	X:g.153001656T>C	-
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)	215	ABCD1	Pathogenic	rs2091749146	RCV001035149;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001656	153001659	X:g.153001656_153001659del	-
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=)	215	ABCD1	Likely benign	-1	RCV001464158;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001657	153001657	153001657	-
NM_000033.4(ABCD1):c.1179A>C (p.Thr393=)	215	ABCD1	Likely benign	-1	RCV002081199;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001663	153001663	153001663	-
NM_000033.4(ABCD1):c.1179A>G (p.Thr393=)	215	ABCD1	Likely benign	-1	RCV002103229;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001663	153001663	153001663	-
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)	215	ABCD1	Uncertain significance	rs1324874967	RCV000685774;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001665	153001665	X:g.153001665C>T	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1182G>T (p.Ala394=)	215	ABCD1	Likely benign	-1	RCV001444246;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001666	153001666	153001666	-
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=)	215	ABCD1	Benign	-1	RCV001515278;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001666	153001666	153001666	-
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro)	215	ABCD1	Uncertain significance	rs1557054176	RCV000517778\|RCV000633487;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001667	153001667	NC_000023.10:g.153001667G>C	ClinGen:CA415105336	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)	215	ABCD1	Uncertain significance	-1	RCV002027810\|RCV003138059;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001668	153001668	153001668	-
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)	215	ABCD1	Likely pathogenic	rs1569541006	RCV000761216;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001670	153001670	NC_000023.10:g.153001670G>A	-
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)	215	ABCD1	Uncertain significance	-1	RCV001895476\|RCV003136244;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001676	153001676	153001676	-
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)	215	ABCD1	Uncertain significance	-1	RCV001938824\|RCV003136328;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001677	153001677	153001677	-
NM_000033.4(ABCD1):c.1197T>C (p.Ile399=)	215	ABCD1	Likely benign	-1	RCV001439166;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001681	153001681	153001681	-
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)	215	ABCD1	Uncertain significance	rs2091749296	RCV001225016;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001682	153001682	X:g.153001682G>A	-
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	215	ABCD1	Pathogenic	rs727503786	RCV000578153;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001685	153001685	NC_000023.10:g.153001685C>T	ClinGen:CA415105485	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=)	215	ABCD1	Benign	-1	RCV001521201;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001685	153001685	153001685	-
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	215	ABCD1	Pathogenic	rs128624219	RCV000012052\|RCV001001636\|RCV001781249;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374\|MedGen:CN517202	X	153001686	153001686	X:g.153001686G>A	ClinGen:CA278106,UniProtKB:P33897#VAR_000064,OMIM:300371.0009	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del)	215	ABCD1	Uncertain significance	-1	RCV002022883;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001693	153001695	153001692	-
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)	215	ABCD1	Likely benign	-1	RCV002651272;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001695	153001695	NC_000023.10:g.153001695C>T	-
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)	215	ABCD1	Likely benign	-1	RCV001464042;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001696	153001696	153001696	-
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=)	215	ABCD1	Likely benign	-1	RCV002193991;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001696	153001696	153001696	-
NM_000033.4(ABCD1):c.1212G>T (p.Ser404_Ser405=)	215	ABCD1	Likely benign	-1	RCV002574791;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001696	153001696	NC_000023.10:g.153001696G>T	-
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)	215	ABCD1	Uncertain significance	-1	RCV003027006\|RCV003138451;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001698	153001698	NC_000023.10:g.153001698C>T	-
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)	215	ABCD1	Benign/Likely benign	rs138233092	RCV000352292;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001699	153001699	X:g.153001699G>A	ClinGen:CA10550157	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)	215	ABCD1	Pathogenic	rs1603234501	RCV000855404;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001703	153001703	X:g.153001703A>T	-
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)	215	ABCD1	Pathogenic	-1	RCV001970107;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001708	153001708	153001708	-
NM_000033.4(ABCD1):c.1224+2T>A	215	ABCD1	Pathogenic	-1	RCV003043496;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001710	153001710	NC_000023.10:g.153001710T>A	-
NM_000033.4(ABCD1):c.1224+8del	215	ABCD1	Likely benign	-1	RCV001438318;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001716	153001716	153001715	-
NM_000033.4(ABCD1):c.1225-11C>A	215	ABCD1	Likely benign	-1	RCV002667398;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001788	153001788	NC_000023.10:g.153001788C>A	-
NC_000023.10:g.(?_153001789)_(153009189_?)del	215	ABCD1	Pathogenic	-1	RCV001383536;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001789	153009189	-1	-
NM_000033.4(ABCD1):c.1225-10C>T	215	ABCD1	Likely benign	-1	RCV002089404;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001789	153001789	153001789	-
NM_000033.4(ABCD1):c.1225-7_1239del	215	ABCD1	Pathogenic	rs1569541009	RCV000758243;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001790	153001811	NC_000023.10:g.153001792_153001813del	-
NM_000033.4(ABCD1):c.1225-9C>T	215	ABCD1	Likely benign	-1	RCV002179037;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001790	153001790	153001790	-
NM_000033.4(ABCD1):c.1225-7C>T	215	ABCD1	Likely benign	-1	RCV002210614;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001792	153001792	153001792	-
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser)	215	ABCD1	Likely benign	rs782161850	RCV000934257;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001802	153001802	X:g.153001802A>T	-
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002367142\|RCV003103322;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001803	153001803	153001803	-
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=)	215	ABCD1	Likely benign	-1	RCV001407878\|RCV002512154;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001804	153001804	153001804	-
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569541011	RCV000710398\|RCV001800863;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001811	153001811	NC_000023.10:g.153001811G>C	-
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)	215	ABCD1	Benign	rs782742220	RCV000944371;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001819	153001819	X:g.153001819C>T	-
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala)	215	ABCD1	Uncertain significance	rs2091749822	RCV001339153;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001820	153001820	153001820	-
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)	215	ABCD1	Pathogenic	rs2091749844	RCV001340427;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001821	153001821	153001821	-
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)	215	ABCD1	Uncertain significance	-1	RCV001962277;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001821	153001821	153001821	-
NM_000033.4(ABCD1):c.1251C>T (p.Ala417_Arg418=)	215	ABCD1	Likely benign	-1	RCV002756110;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001825	153001825	NC_000023.10:g.153001825C>T	-
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	215	ABCD1	Pathogenic/Likely pathogenic	rs128624220	RCV000012053\|RCV000518515;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001826	153001826	X:g.153001826C>T	OMIM:300371.0010,ClinGen:CA278107,UniProtKB:P33897#VAR_000065	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)	215	ABCD1	Pathogenic	rs1046633404	RCV001058584;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001827	153001827	X:g.153001827G>A	-
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)	215	ABCD1	Pathogenic	-1	RCV002770187;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001827	153001827	NC_000023.10:g.153001827G>C	-
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)	215	ABCD1	Uncertain significance	-1	RCV003090255;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001829	153001829	NC_000023.10:g.153001829G>C	-
NM_000033.4(ABCD1):c.1257G>A (p.Val419=)	215	ABCD1	Likely benign	rs1603234541	RCV000977496\|RCV001443175;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001831	153001831	X:g.153001831G>A	-
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu)	215	ABCD1	Uncertain significance	rs2091749942	RCV001323120;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001833	153001833	153001833	-
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)	215	ABCD1	Likely pathogenic	-1	RCV003066403;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001833	153001833	NC_000023.10:g.153001833A>C	-
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)	215	ABCD1	Likely benign	rs782066367	RCV001279586;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001834	153001834	X:g.153001834C>A	-
NM_000033.4(ABCD1):c.1260C>T (p.His420_Glu421=)	215	ABCD1	Likely benign	-1	RCV002574096;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001834	153001834	NC_000023.10:g.153001834C>T	-
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)	215	ABCD1	Likely benign	rs1255903649	RCV000613593\|RCV001727783;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001835	153001835	NC_000023.10:g.153001835G>A	ClinGen:CA415106144	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=)	215	ABCD1	Likely benign	-1	RCV001423149;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001837	153001837	153001837	-
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)	215	ABCD1	Pathogenic	rs1557054210	RCV000532174;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001844	153001844	NC_000023.10:g.153001844C>T	ClinGen:CA415106267	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1272G>A (p.Gln424_Val425=)	215	ABCD1	Likely benign	-1	RCV002619707;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001846	153001846	NC_000023.10:g.153001846G>A	-
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)	215	ABCD1	Uncertain significance	-1	RCV002810394;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001847	153001847	NC_000023.10:g.153001847G>A	-
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp)	215	ABCD1	Uncertain significance	-1	RCV001374134;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001855	153001855	153001855	-
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)	215	ABCD1	Pathogenic	-1	RCV002876482;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001860	153001860	NC_000023.10:g.153001861del	-
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	215	ABCD1	Pathogenic	rs797044726	RCV000178024\|RCV000763198;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001862	153001862	X:g.153001862C>T	ClinGen:CA278507	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=)	215	ABCD1	Likely benign	-1	RCV002115510;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001864	153001864	153001864	-
NM_000033.4(ABCD1):c.1291C>T (p.Arg431Cys)	215	ABCD1	Uncertain significance	-1	RCV001984625;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001865	153001865	153001865	-
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr)	215	ABCD1	Likely benign	-1	RCV002730729;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001869	153001869	NC_000023.10:g.153001869G>A	-
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp)	215	ABCD1	Uncertain significance	-1	RCV001981519;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001871	153001871	153001871	-
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=)	215	ABCD1	Likely benign	-1	RCV001443141\|RCV002384682;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153001891	153001891	153001891	-
NM_000033.4(ABCD1):c.1320A>G (p.Leu440=)	215	ABCD1	Likely benign	-1	RCV001480171;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001894	153001894	153001894	-
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs)	215	ABCD1	Pathogenic	-1	RCV001909983;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001896	153001897	153001896	-
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)	215	ABCD1	Benign	-1	RCV001510724;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001900	153001900	153001900	-
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)	215	ABCD1	Benign	rs782647014	RCV001279587;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001901	153001901	X:g.153001901G>A	-
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=)	215	ABCD1	Likely benign	-1	RCV002171806;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001903	153001903	153001903	-
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)	215	ABCD1	Likely benign	rs1432758988	RCV000557311\|RCV001529574;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001908	153001908	X:g.153001908C>T	ClinGen:CA415107044	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=)	215	ABCD1	Likely benign	-1	RCV001487762;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001909	153001909	153001909	-
NM_000033.4(ABCD1):c.1338G>C (p.Gly446_Ser447=)	215	ABCD1	Likely benign	-1	RCV002830039;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001912	153001912	NC_000023.10:g.153001912G>C	-
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met)	215	ABCD1	Likely benign	-1	RCV002585102;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001924	153001924	NC_000023.10:g.153001924A>G	-
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)	215	ABCD1	Benign/Likely benign	rs368061976	RCV000395704\|RCV002379261;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153001928	153001928	X:g.153001928C>T	ClinGen:CA10550188	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1354C>A (p.Arg452=)	215	ABCD1	Likely benign	-1	RCV001401321;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001928	153001928	153001928	-
NM_000033.4(ABCD1):c.1356G>A (p.Arg452=)	215	ABCD1	Likely benign	-1	RCV002176857;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001930	153001930	153001930	-
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)	215	ABCD1	Pathogenic	rs1603234574	RCV001008779\|RCV001800915;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001933	153001933	X:g.153001933_153001933del	-
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)	215	ABCD1	Pathogenic/Likely pathogenic	rs193922093	RCV000029284;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001938	153001939	X:g.153001938_153001939insC	ClinGen:CA278374	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)	215	ABCD1	Benign	-1	RCV002927529;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001940	153001940	NC_000023.10:g.153001940C>T	-
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)	215	ABCD1	Benign	-1	RCV001523298;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001941	153001941	153001941	-
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro)	215	ABCD1	Likely benign	-1	RCV002894981;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001941	153001941	NC_000023.10:g.153001941G>C	-
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)	215	ABCD1	Likely pathogenic	-1	RCV003123359;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001941	153001941	NC_000023.10:g.153001941del	-
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)	215	ABCD1	Likely benign	-1	RCV001370200;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001943	153001943	153001943	-
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=)	215	ABCD1	Likely benign	-1	RCV002214924;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001951	153001951	153001951	-
NM_000033.4(ABCD1):c.1377C>T (p.Gly459_Pro460=)	215	ABCD1	Likely benign	-1	RCV002612366;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001951	153001951	NC_000023.10:g.153001951C>T	-
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	215	ABCD1	Pathogenic/Likely pathogenic	rs128624221	RCV000012054\|RCV001781250;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153001964	153001964	X:g.153001964C>T	ClinGen:CA278108,OMIM:300371.0011	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln)	215	ABCD1	Benign	-1	RCV001513803;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001965	153001965	153001965	-
NM_000033.4(ABCD1):c.1393+1G>A	215	ABCD1	Pathogenic	-1	RCV003066404;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001968	153001968	NC_000023.10:g.153001968G>A	-
NM_000033.4(ABCD1):c.1393+8T>C	215	ABCD1	Likely benign	-1	RCV001451002;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001975	153001975	153001975	-
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT	215	ABCD1	Likely benign	-1	RCV002881036;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001975	153001976	NC_000023.10:g.153001975_153001976delinsGT	-
NM_000033.4(ABCD1):c.1393+9G>A	215	ABCD1	Likely benign	-1	RCV002218411;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001976	153001976	153001976	-
NM_000033.4(ABCD1):c.1393+13C>A	215	ABCD1	Likely benign	-1	RCV002710125;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001980	153001980	NC_000023.10:g.153001980C>A	-
NM_000033.4(ABCD1):c.1393+14C>T	215	ABCD1	Likely benign	-1	RCV003105229;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001981	153001981	NC_000023.10:g.153001981C>T	-
NM_000033.4(ABCD1):c.1393+18C>G	215	ABCD1	Benign	-1	RCV001520894;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001985	153001985	153001985	-
NM_000033.4(ABCD1):c.1393+31C>T	215	ABCD1	Benign	rs73633774	RCV000506070\|RCV001613325\|RCV001800722;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153001998	153001998	NC_000023.10:g.153001998C>T	ClinGen:CA10550201	CN169374 not specified;
NM_000033.4(ABCD1):c.1394-10_1394-9del	215	ABCD1	Likely benign	-1	RCV002185372;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002600	153002601	153002599	-
NC_000023.10:g.(?_153002601)_(153002715_?)del	215	ABCD1	Pathogenic	-1	RCV001383343;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002601	153002715	-1	-
NM_000033.4(ABCD1):c.1394-10G>A	215	ABCD1	Likely benign	-1	RCV002994871;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002601	153002601	NC_000023.10:g.153002601G>A	-
NM_000033.4(ABCD1):c.1394-5T>C	215	ABCD1	Likely benign	-1	RCV002187877;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002606	153002606	153002606	-
NM_000033.4(ABCD1):c.1394-2_1404del	215	ABCD1	Likely pathogenic	-1	RCV002875576;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002609	153002621	NC_000023.10:g.153002609_153002621del	-
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	215	ABCD1	Pathogenic	rs398123100	RCV000077950\|RCV001063464;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002613	153002613	X:g.153002613C>T	ClinGen:CA278401	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002246933\|RCV002391377\|RCV003094045;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002616	153002616	153002616	-
NM_000033.4(ABCD1):c.1401G>A (p.Val467=)	215	ABCD1	Likely benign	rs1603234733	RCV000976477\|RCV001392309;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002618	153002618	X:g.153002618G>A	-
NM_000033.4(ABCD1):c.1404G>A (p.Val468=)	215	ABCD1	Likely benign	rs782072629	RCV000535763;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002621	153002621	NC_000023.10:g.153002621G>A	ClinGen:CA10550214	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)	215	ABCD1	Uncertain significance	-1	RCV003020869;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002622	153002622	NC_000023.10:g.153002622G>C	-
NM_000033.4(ABCD1):c.1413A>G (p.Glu471=)	215	ABCD1	Likely benign	-1	RCV001476389;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002630	153002630	153002630	-
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)	215	ABCD1	Pathogenic	rs2091752744	RCV001225015;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002631	153002631	X:g.153002631C>T	-
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	215	ABCD1	Pathogenic	rs387906494	RCV000012055\|RCV000516943;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153002632	153002633	X:g.153002632_153002633del	ClinGen:CA278110,OMIM:300371.0012	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)	215	ABCD1	Uncertain significance	rs1569541033	RCV000779678\|RCV001825520;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002632	153002632	NC_000023.10:g.153002632A>G	-
NM_000033.4(ABCD1):c.1419G>A (p.Gly473=)	215	ABCD1	Likely benign	-1	RCV001438331;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002636	153002636	153002636	-
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs141446687	RCV000312537;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002645	153002645	X:g.153002645C>T	ClinGen:CA10550218	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)	215	ABCD1	Pathogenic	rs128624222	RCV000012056;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002646	153002646	X:g.153002646G>T	ClinGen:CA278111,OMIM:300371.0013	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys)	215	ABCD1	Likely benign	-1	RCV002979917;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002646	153002646	NC_000023.10:g.153002646G>A	-
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)	215	ABCD1	Pathogenic	-1	RCV002249220;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002647	153002647	153002646	-
NM_000033.4(ABCD1):c.1431G>A (p.Glu477_Asn478=)	215	ABCD1	Likely benign	-1	RCV002818977;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002648	153002648	NC_000023.10:g.153002648G>A	-
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=)	215	ABCD1	Likely benign	-1	RCV001485971;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002651	153002651	153002651	-
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)	215	ABCD1	Pathogenic	rs1557054318	RCV000507704\|RCV000991474\|RCV001800721;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002654	153002654	NC_000023.10:g.153002657del	ClinGen:CA645509234	CN169374 not specified;
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=)	215	ABCD1	Likely benign	-1	RCV001441362;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002657	153002657	153002657	-
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)	215	ABCD1	Likely benign	-1	RCV003091160;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002658	153002658	NC_000023.10:g.153002658A>G	-
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)	215	ABCD1	Likely pathogenic	-1	RCV001377747;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002659	153002659	153002659	-
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=)	215	ABCD1	Benign	-1	RCV001510629;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002660	153002660	153002660	-
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile)	215	ABCD1	Likely benign	rs781806403	RCV002067013\|RCV002060903\|RCV002312772;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153002661	153002661	NC_000023.10:g.153002661G>A	-
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569541035	RCV000710399\|RCV000800638;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002665	153002665	NC_000023.10:g.153002665C>T	-
NM_000033.4(ABCD1):c.1449G>A (p.Thr483=)	215	ABCD1	Likely benign	-1	RCV002078553;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002666	153002666	153002666	-
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)	215	ABCD1	Likely pathogenic	-1	RCV003078940;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002667	153002667	NC_000023.10:g.153002667C>T	-
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)	215	ABCD1	Pathogenic	rs128624214	RCV000012045;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002668	153002668	X:g.153002668C>G	ClinGen:CA278101,UniProtKB:P33897#VAR_000066,OMIM:300371.0002	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782546330	RCV000626183;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002669	153002669	NC_000023.10:g.153002669C>G	ClinGen:CA10550223	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)	215	ABCD1	Pathogenic	rs1603234759	RCV000813291;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002671	153002671	X:g.153002671C>G	-
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)	215	ABCD1	Benign/Likely benign	rs150878397	RCV000908342\|RCV001085582\|RCV002314578;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153002672	153002672	NC_000023.10:g.153002672A>C	-
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg)	215	ABCD1	Benign	-1	RCV001522584;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002673	153002673	153002673	-
NM_000033.4(ABCD1):c.1458A>G (p.Gly486=)	215	ABCD1	Likely benign	-1	RCV001422052;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002675	153002675	153002675	-
NM_000033.4(ABCD1):c.1464G>C (p.Val488=)	215	ABCD1	Likely benign	-1	RCV001466935;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002681	153002681	153002681	-
NM_000033.4(ABCD1):c.1467G>A (p.Val489=)	215	ABCD1	Likely benign	rs782516659	RCV000556385;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002684	153002684	X:g.153002684G>A	ClinGen:CA10550226	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=)	215	ABCD1	Likely benign	-1	RCV001499606;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002693	153002693	153002693	-
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)	215	ABCD1	Likely pathogenic	rs2091753125	RCV001253465;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002701	153002701	X:g.153002701T>A	-
NM_000033.4(ABCD1):c.1485C>T (p.Ile495=)	215	ABCD1	Likely benign	-1	RCV002136481;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002702	153002702	153002702	-
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)	215	ABCD1	Uncertain significance	-1	RCV003073751;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002704	153002704	NC_000023.10:g.153002704G>C	-
NM_000033.4(ABCD1):c.1488+1G>A	215	ABCD1	Pathogenic	rs2091753176	RCV001218118;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002706	153002706	X:g.153002706G>A	-
NM_000033.4(ABCD1):c.1488+5G>C	215	ABCD1	Uncertain significance	rs2091753189	RCV001317478;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002710	153002710	153002710	-
NM_000033.4(ABCD1):c.1488+9A>G	215	ABCD1	Likely benign	rs1603234781	RCV000953122\|RCV002066328;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002714	153002714	X:g.153002714A>G	-
NM_000033.4(ABCD1):c.1488+10G>A	215	ABCD1	Likely benign	-1	RCV002097497;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153002715	153002715	153002715	-
NM_000033.4(ABCD1):c.1489-24C>G	215	ABCD1	Benign	rs149185761	RCV000592106\|RCV000675192\|RCV001800816;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005522	153005522	X:g.153005522C>G	ClinGen:CA10550244	CN517202 not provided;
NM_000033.4(ABCD1):c.1489-18C>T	215	ABCD1	Likely benign	-1	RCV002112842;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005528	153005528	153005528	-
NM_000033.4(ABCD1):c.1489-17G>C	215	ABCD1	Likely benign	-1	RCV002085459;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005529	153005529	153005529	-
NM_000033.4(ABCD1):c.1489-13G>T	215	ABCD1	Benign	-1	RCV002084490;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005533	153005533	153005533	-
NC_000023.11:g.(?_153740082)_(153740247_?)del	215	ABCD1	Pathogenic	-1	RCV000800049;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005536	153005701		-
NC_000023.10:g.(?_153005536)_(153009199_?)del	215	ABCD1	Pathogenic	-1	RCV001919992;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005536	153009199	-1	-
NM_000033.4(ABCD1):c.1489-6del	215	ABCD1	Benign/Likely benign	rs398123101	RCV000077952\|RCV000367227\|RCV001705720;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005537	153005537	X:g.153005537_153005537del	ClinGen:CA145612	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1489-9C>A	215	ABCD1	Likely benign	-1	RCV001403883;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005537	153005537	153005537	-
NM_000033.4(ABCD1):c.1489-9C>T	215	ABCD1	Likely benign	-1	RCV003093265;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005537	153005537	NC_000023.10:g.153005537C>T	-
NM_000033.4(ABCD1):c.1489-4G>C	215	ABCD1	Likely benign	-1	RCV002076544;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005542	153005542	153005542	-
NM_000033.4(ABCD1):c.1489-2A>G	215	ABCD1	Pathogenic	-1	RCV003079251;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005544	153005544	NC_000023.10:g.153005544A>G	-
NM_000033.4(ABCD1):c.1489-1G>A	215	ABCD1	Pathogenic	rs1603235263	RCV000816853;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005545	153005545	X:g.153005545G>A	-
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=)	215	ABCD1	Likely benign	-1	RCV002157792;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005551	153005551	153005551	-
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)	215	ABCD1	Pathogenic	-1	RCV001386788;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005556	153005565	153005555	-
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1603235267	RCV000990977;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005558	153005558	X:g.153005558A>T	-
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)	215	ABCD1	Likely pathogenic	rs2091762267	RCV001218447;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005565	153005565	X:g.153005565T>C	-
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)	215	ABCD1	Likely pathogenic	-1	RCV002310523;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005567	153005573	153005566	-
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)	215	ABCD1	Uncertain significance	-1	RCV003074957;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005573	153005573	NC_000023.10:g.153005573A>G	-
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)	215	ABCD1	Uncertain significance	rs2091762306	RCV001330910;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005574	153005574	153005574	-
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=)	215	ABCD1	Likely benign	-1	RCV001500062;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005575	153005575	153005575	-
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)	215	ABCD1	Likely pathogenic	-1	RCV002040642;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005576	153005576	153005576	-
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)	215	ABCD1	Likely pathogenic	-1	RCV003066405;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005577	153005577	NC_000023.10:g.153005577G>A	-
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV003050672\|RCV003138475;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005577	153005577	NC_000023.10:g.153005577G>T	-
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=)	215	ABCD1	Likely benign	-1	RCV001459135;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005578	153005578	153005578	-
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His)	215	ABCD1	Uncertain significance	rs1569541087	RCV000690556;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005580	153005580	X:g.153005580C>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)	215	ABCD1	Likely pathogenic	-1	RCV001920320;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005580	153005580	153005580	-
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782158792	RCV000534849\|RCV002395316;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153005583	153005583	X:g.153005583A>G	ClinGen:CA10550254	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)	215	ABCD1	Pathogenic	rs2091762383	RCV001055117;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005585	153005585	X:g.153005585_153005585del	-
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)	215	ABCD1	Uncertain significance	rs2091762396	RCV001237662;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005585	153005590	X:g.153005585_153005590del	-
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)	215	ABCD1	Likely pathogenic	-1	RCV002470648;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005585	153005585	NC_000023.10:g.153005585G>A	-
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)	215	ABCD1	Likely pathogenic	-1	RCV002028139;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005586	153005586	153005586	-
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1557054745	RCV000633490\|RCV003139960;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005589	153005589	X:g.153005589G>A	ClinGen:CA415111140	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)	215	ABCD1	Uncertain significance	rs782370364	RCV000549873\|RCV003139755;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005590	153005590	X:g.153005590C>G	ClinGen:CA415111144	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1533C>T (p.Cys511=)	215	ABCD1	Likely benign	-1	RCV001413923;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005590	153005590	153005590	-
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	215	ABCD1	Pathogenic/Likely pathogenic	rs1569541088	RCV000710055\|RCV000710400;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005591	153005591	NC_000023.10:g.153005591G>A	-
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)	215	ABCD1	Likely pathogenic	rs1569541088	RCV001057299;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005591	153005591	X:g.153005591G>C	-
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)	215	ABCD1	Likely pathogenic	-1	RCV002031941;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005592	153005592	153005592	-
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=)	215	ABCD1	Likely benign	rs139343560	RCV000920377\|RCV001464004;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005593	153005593	X:g.153005593C>G	-
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)	215	ABCD1	Likely pathogenic	-1	RCV002308396;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005594	153005594	153005594	-
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=)	215	ABCD1	Likely benign	-1	RCV001482896;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005599	153005599	153005599	-
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)	215	ABCD1	Pathogenic	rs128624223	RCV000012057;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005601	153005601	X:g.153005601C>T	ClinGen:CA278113,UniProtKB:P33897#VAR_000069,OMIM:300371.0014	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)	215	ABCD1	Likely pathogenic	-1	RCV001973074;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005604	153005605	153005604	-
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)	215	ABCD1	Pathogenic/Likely pathogenic	-1	RCV002403288\|RCV003100714;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005604	153005604	153005604	-
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)	215	ABCD1	Benign	rs41314153	RCV000077953\|RCV000402140\|RCV000675193\|RCV002311545;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153005605	153005605	X:g.153005605G>A	ClinGen:CA145613	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1552del (p.Arg518fs)	215	ABCD1	Pathogenic	rs387906495	RCV000012058;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005608	153005608	X:g.153005608_153005608del	ClinGen:CA278114,OMIM:300371.0015	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	215	ABCD1	Pathogenic	rs128624224	RCV000012059\|RCV000723537\|RCV001358358;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MONDO:MONDO:0010248,MedGen:C1848097,OMIM:300106, Orphanet:93349	X	153005609	153005609	X:g.153005609C>T	ClinGen:CA278115,UniProtKB:P33897#VAR_000071,OMIM:300371.0016	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)	215	ABCD1	Pathogenic	rs128624224	RCV000633480;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005609	153005609	X:g.153005609C>G	ClinGen:CA415111345	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	215	ABCD1	Pathogenic	rs398123102	RCV000077955\|RCV000723540;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005610	153005610	X:g.153005610G>A	ClinGen:CA278403,UniProtKB:P33897#VAR_000070	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)	215	ABCD1	Pathogenic	rs1159943880	RCV000633481;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005624	153005624	X:g.153005624C>T	ClinGen:CA415111462	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV001591595\|RCV001866136\|RCV002569123;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153005624	153005624	153005624	-
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091762647	RCV001218702;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005625	153005625	X:g.153005625T>C	-
NM_000033.4(ABCD1):c.1569C>G (p.Leu523=)	215	ABCD1	Likely benign	-1	RCV001398691;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005626	153005626	153005626	-
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)	215	ABCD1	Uncertain significance	-1	RCV003050673;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005627	153005627	NC_000023.10:g.153005627T>C	-
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)	215	ABCD1	Uncertain significance	-1	RCV002856117;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005630	153005630	NC_000023.10:g.153005630C>A	-
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)	215	ABCD1	Likely pathogenic	-1	RCV002468727;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005631	153005631	NC_000023.10:g.153005631C>T	-
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)	215	ABCD1	Uncertain significance	rs2091762670	RCV001236749\|RCV003142204;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005634	153005634	X:g.153005634C>G	-
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=)	215	ABCD1	Likely benign	-1	RCV001892060;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005635	153005635	153005635	-
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)	215	ABCD1	Benign	rs145073701	RCV000883605;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005638	153005638	X:g.153005638C>T	-
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	rs376472029	RCV000432469\|RCV000766078;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005639	153005639	X:g.153005639G>A	ClinGen:CA10550259	CN169374 not specified;
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe)	215	ABCD1	Uncertain significance	-1	RCV001971553;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005648	153005648	153005648	-
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)	215	ABCD1	Likely pathogenic	rs193922094	RCV000029285;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005649	153005649	X:g.153005649T>C	ClinGen:CA278375	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=)	215	ABCD1	Likely benign	-1	RCV002170984;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005653	153005653	153005653	-
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	215	ABCD1	Pathogenic/Likely pathogenic	rs781862879	RCV000761217\|RCV002397532\|RCV003141741;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	153005654	153005654	NC_000023.10:g.153005654A>C	-
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)	215	ABCD1	Uncertain significance	rs1569541092	RCV000696719;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005656	153005656	NC_000023.10:g.153005656G>T	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1605A>G (p.Pro535=)	215	ABCD1	Likely benign	-1	RCV001395059;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005662	153005662	153005662	-
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His)	215	ABCD1	Likely benign	-1	RCV002667281;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005668	153005668	NC_000023.10:g.153005668G>C	-
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)	215	ABCD1	Pathogenic	-1	RCV002880285;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005671	153005672	NC_000023.10:g.153005672_153005673dup	-
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)	215	ABCD1	Uncertain significance	rs782440686	RCV001043116\|RCV001759748;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005672	153005672	X:g.153005672A>G	-
NM_000033.4(ABCD1):c.1617G>A (p.Met539Ile)	215	ABCD1	Uncertain significance	-1	RCV001877078;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005674	153005674	153005674	-
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=)	215	ABCD1	Likely benign	-1	RCV001504966;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005677	153005677	153005677	-
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)	215	ABCD1	Uncertain significance	-1	RCV002856533;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005677	153005677	NC_000023.10:g.153005677C>G	-
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys)	215	ABCD1	Uncertain significance	-1	RCV001978764;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005679	153005679	153005679	-
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)	215	ABCD1	Pathogenic	rs1603235321	RCV000787038\|RCV001784397;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005683	153005683	X:g.153005683_153005683del	-
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557054776	RCV000633485\|RCV000727694;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153005685	153005685	X:g.153005685C>T	ClinGen:CA415112044	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)	215	ABCD1	Likely pathogenic	rs1557054776	RCV001090088;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005685	153005685	X:g.153005685C>G	-
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=)	215	ABCD1	Likely benign	rs782278443	RCV000973857;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005686	153005686	X:g.153005686G>A	-
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)	215	ABCD1	Likely pathogenic	rs2091763089	RCV001038533;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005688	153005688	X:g.153005688A>G	-
NM_000033.4(ABCD1):c.1634+1G>A	215	ABCD1	Pathogenic	rs1569541096	RCV000012060;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005692	153005692	X:g.153005692G>A	OMIM:300371.0017	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1634+9G>A	215	ABCD1	Likely benign	-1	RCV002215463;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005700	153005700	153005700	-
NM_000033.4(ABCD1):c.1634+11C>G	215	ABCD1	Likely benign	-1	RCV002870903;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005702	153005702	NC_000023.10:g.153005702C>G	-
NM_000033.4(ABCD1):c.1634+12C>T	215	ABCD1	Benign	-1	RCV001521384;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005703	153005703	153005703	-
NM_000033.4(ABCD1):c.1634+13G>A	215	ABCD1	Benign	-1	RCV002932360;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005704	153005704	NC_000023.10:g.153005704G>A	-
NC_000023.10:g.(?_153005725)_(153006804_?)del	215	ABCD1	Pathogenic	-1	RCV003119107;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153005725	153006804		-
NM_000033.4(ABCD1):c.1635-6C>T	215	ABCD1	Uncertain significance	-1	RCV001908862;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006022	153006022	153006022	-
NM_000033.4(ABCD1):c.1635-3C>G	215	ABCD1	Uncertain significance	-1	RCV001804236;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006025	153006025	153006025	-
NM_000033.4(ABCD1):c.1635-2A>G	215	ABCD1	Pathogenic	rs1569541109	RCV000012046\|RCV002399317;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153006026	153006026	X:g.153006026A>G	OMIM:300371.0003	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1635-1G>A	215	ABCD1	Pathogenic	rs1603235389	RCV000850151;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006027	153006027	X:g.153006027G>A	-
NM_000033.4(ABCD1):c.1635G>A (p.Arg545_Pro546=)	215	ABCD1	Uncertain significance	-1	RCV002591426;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006028	153006028	NC_000023.10:g.153006028G>A	-
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)	215	ABCD1	Uncertain significance	rs1603235394	RCV000822259\|RCV001726340;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153006030	153006030	X:g.153006030C>T	-
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)	215	ABCD1	Uncertain significance	rs201054474	RCV001052508;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006035	153006035	X:g.153006035A>G	-
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)	215	ABCD1	Pathogenic	-1	RCV002569629;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006035	153006036	NC_000023.10:g.153006035_153006036del	-
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile)	215	ABCD1	Uncertain significance	rs1569541112	RCV000699602;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006037	153006037	NC_000023.10:g.153006037G>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys)	215	ABCD1	Uncertain significance	-1	RCV002040442;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006044	153006044	153006044	-
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)	215	ABCD1	Uncertain significance	-1	RCV001887390;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006045	153006045	153006045	-
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)	215	ABCD1	Uncertain significance	-1	RCV002823933;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006045	153006045	NC_000023.10:g.153006045G>T	-
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=)	215	ABCD1	Likely benign	rs200718788	RCV000882993\|RCV001505838;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006046	153006046	X:g.153006046C>T	-
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)	215	ABCD1	Pathogenic	-1	RCV001385383;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006048	153006048	153006047	-
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=)	215	ABCD1	Likely benign	-1	RCV001427720;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006050	153006050	153006050	-
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)	215	ABCD1	Uncertain significance	-1	RCV002022890\|RCV003138043;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153006050	153006050	153006050	-
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)	215	ABCD1	Pathogenic	rs1569541115	RCV000699233;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006052	153006053	X:g.153006052_153006053insC	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)	215	ABCD1	Uncertain significance	-1	RCV002760386;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006053	153006053	NC_000023.10:g.153006053C>T	-
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	215	ABCD1	Pathogenic	rs201568579	RCV000516866\|RCV001203306;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006054	153006054	X:g.153006054G>A	ClinGen:CA278460,UniProtKB:P33897#VAR_009381	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)	215	ABCD1	Uncertain significance	rs2091764450	RCV001247886;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006061	153006061	X:g.153006061G>T	-
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)	215	ABCD1	Likely pathogenic	rs2091764510	RCV001223848;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006068	153006068	X:g.153006068T>C	-
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)	215	ABCD1	Pathogenic	-1	RCV001972629;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006070	153006070	153006070	-
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)	215	ABCD1	Likely pathogenic	rs2091764526	RCV001060280;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006071	153006071	X:g.153006071C>A	-
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	215	ABCD1	Pathogenic	rs398123105	RCV000077958\|RCV000723625\|RCV002399466;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153006072	153006072	X:g.153006072C>T	ClinGen:CA278408,UniProtKB:P33897#VAR_000075	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)	215	ABCD1	Likely pathogenic	-1	RCV002017853;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006072	153006072	153006072	-
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=)	215	ABCD1	Likely benign	-1	RCV001471557;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006073	153006073	153006073	-
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn)	215	ABCD1	Uncertain significance	rs2091764566	RCV001350840;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006074	153006074	153006074	-
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)	215	ABCD1	Uncertain significance	-1	RCV002837993;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006074	153006074	NC_000023.10:g.153006074G>T	-
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=)	215	ABCD1	Likely benign	rs199997983	RCV000675194\|RCV001087253;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006076	153006076	NC_000023.10:g.153006076C>T	-	CN517202 not provided;
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)	215	ABCD1	Uncertain significance	rs2091764595	RCV001050528;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006077	153006077	X:g.153006077T>A	-
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)	215	ABCD1	Uncertain significance	rs2091764595	RCV001218948;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006077	153006077	X:g.153006077T>C	-
NM_000033.4(ABCD1):c.1692G>A (p.Glu564_Asp565=)	215	ABCD1	Likely benign	-1	RCV002584654;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006085	153006085	NC_000023.10:g.153006085G>A	-
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)	215	ABCD1	Pathogenic	rs2091764622	RCV001235149;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006088	153006088	X:g.153006088_153006088del	-
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)	215	ABCD1	Likely pathogenic	-1	RCV002046362;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006090	153006090	153006090	-
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)	215	ABCD1	Uncertain significance	rs2091764661	RCV001279588;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006099	153006099	X:g.153006099A>G	-
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)	215	ABCD1	Pathogenic	-1	RCV003048221;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006106	153006106	NC_000023.10:g.153006106C>G	-
NM_000033.4(ABCD1):c.1716G>T (p.Ser572=)	215	ABCD1	Likely benign	-1	RCV001458959;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006109	153006109	153006109	-
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=)	215	ABCD1	Likely benign	-1	RCV001487971;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006109	153006109	153006109	-
NM_000033.4(ABCD1):c.1719G>A (p.Glu573=)	215	ABCD1	Likely benign	-1	RCV002141329;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006112	153006112	153006112	-
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)	215	ABCD1	Pathogenic	-1	RCV001950806;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006113	153006113	153006113	-
NM_000033.4(ABCD1):c.1734C>T (p.Ala578=)	215	ABCD1	Likely benign	-1	RCV001484525;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006127	153006127	153006127	-
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)	215	ABCD1	Likely pathogenic	rs1603235421	RCV000990978;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006129	153006137	X:g.153006129_153006137del	-
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)	215	ABCD1	Likely pathogenic	rs2091764754	RCV001036673;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006130	153006144	X:g.153006130_153006144del	-
NM_000033.4(ABCD1):c.1742_1781-968del	215	ABCD1	Pathogenic	-1	RCV001231869;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006133	153007471	X:g.153006133_153006231del	-
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del)	215	ABCD1	Uncertain significance	rs1557054859	RCV000560921;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006136	153006138	NC_000023.10:g.153006136CGT[1]	ClinGen:CA658659059	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=)	215	ABCD1	Likely benign	rs782026057	RCV000935452;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006136	153006136	X:g.153006136C>T	-
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)	215	ABCD1	Conflicting interpretations of pathogenicity	rs76180859	RCV000202951\|RCV000675195\|RCV000602068\|RCV002311311;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153006137	153006137	X:g.153006137G>A	ClinGen:CA249150	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1746C>T (p.Val582=)	215	ABCD1	Likely benign	-1	RCV001443353;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006139	153006139	153006139	-
NM_000033.4(ABCD1):c.1746C>G (p.Val582=)	215	ABCD1	Likely benign	-1	RCV002150833;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006139	153006139	153006139	-
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1569541120	RCV000685857\|RCV002267015;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153006140	153006140	NC_000023.10:g.153006140G>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)	215	ABCD1	Benign/Likely benign	rs79383557	RCV000203152\|RCV000608121\|RCV002311312;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153006141	153006141	X:g.153006141T>A	ClinGen:CA249353	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)	215	ABCD1	Uncertain significance	-1	RCV002651743;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006141	153006141	NC_000023.10:g.153006141T>C	-
NM_000033.4(ABCD1):c.1749G>A (p.Val583=)	215	ABCD1	Likely benign	-1	RCV001456848;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006142	153006142	153006142	-
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)	215	ABCD1	Pathogenic	-1	RCV003057893;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006145	153006145	NC_000023.10:g.153006146del	-
NM_000033.4(ABCD1):c.1755G>A (p.Leu585=)	215	ABCD1	Likely benign	-1	RCV001446403;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006148	153006148	153006148	-
NM_000033.4(ABCD1):c.1761C>T (p.His587=)	215	ABCD1	Likely benign	-1	RCV002179435;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006154	153006154	153006154	-
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)	215	ABCD1	Uncertain significance	rs1569541122	RCV000691696\|RCV001288420;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153006156	153006156	X:g.153006156T>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)	215	ABCD1	Pathogenic	rs2091765003	RCV001253021;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006161	153006161	X:g.153006161C>T	-
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	215	ABCD1	Pathogenic/Likely pathogenic	rs398123106	RCV000498217\|RCV000808514;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006164	153006164	NC_000023.10:g.153006164C>T	ClinGen:CA278409,UniProtKB:P33897#VAR_009382	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557054873	RCV000538578\|RCV000675196\|RCV002528315;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153006165	153006165	X:g.153006165G>A	ClinGen:CA415113345	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=)	215	ABCD1	Likely benign	-1	RCV001474758;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006166	153006166	153006166	-
NM_000033.4(ABCD1):c.1773G>C (p.Arg591_Glu592=)	215	ABCD1	Likely benign	-1	RCV003006493;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006166	153006166	NC_000023.10:g.153006166G>C	-
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)	215	ABCD1	Pathogenic	-1	RCV001390826;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006173	153006173	153006173	-
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)	215	ABCD1	Pathogenic	-1	RCV003021641;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006173	153006173	NC_000023.10:g.153006173G>A	-
NM_000033.4(ABCD1):c.1780+2T>G	215	ABCD1	Pathogenic	rs1557054875	RCV000548944;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006175	153006175	NC_000023.10:g.153006175T>G	ClinGen:CA415113455	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1780+4G>A	215	ABCD1	Conflicting interpretations of pathogenicity	rs193922095	RCV000029286;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006177	153006177	X:g.153006177G>A	ClinGen:CA278377	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1780+5_1780+6insT	215	ABCD1	Uncertain significance	-1	RCV002810797;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006178	153006179	NC_000023.10:g.153006178_153006179insT	-
NM_000033.4(ABCD1):c.1780+7G>A	215	ABCD1	Likely benign	-1	RCV002158247;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153006180	153006180	153006180	-
NC_000023.10:g.(?_153008421)_(153009209_?)del	215	ABCD1	Pathogenic	-1	RCV000633500;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008421	153009209		-	C0162309 300100 Adrenoleukodystrophy;
NC_000023.10:g.(?_153008421)_(153009189_?)del	215	ABCD1	Pathogenic	-1	RCV001949652;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008421	153009189	-1	-
NM_000033.4(ABCD1):c.1781-16C>T	215	ABCD1	Likely benign	-1	RCV002172909;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008425	153008425	153008425	-
NC_000023.11:g.(?_153742977)_(153743745_?)del	215	ABCD1	Pathogenic	-1	RCV000823243;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008431	153009199		-
NM_000033.4(ABCD1):c.1781-9C>T	215	ABCD1	Likely benign	-1	RCV001482788;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008432	153008432	153008432	-
NM_000033.4(ABCD1):c.1781-7C>T	215	ABCD1	Likely benign	rs79915675	RCV000973918;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008434	153008434	X:g.153008434C>T	-
NM_000033.4(ABCD1):c.1781-6G>A	215	ABCD1	Likely benign	-1	RCV002197373;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008435	153008435	153008435	-
NM_000033.4(ABCD1):c.1781-5C>G	215	ABCD1	Conflicting interpretations of pathogenicity	rs781920026	RCV001474566\|RCV002263954\|RCV002314426;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153008436	153008436	NC_000023.10:g.153008436C>G	-
NM_000033.4(ABCD1):c.1781-2A>G	215	ABCD1	Likely pathogenic	-1	RCV002290421;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008439	153008439	153008439	-
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)	215	ABCD1	Pathogenic	rs1603235901	RCV000796458;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008444	153008444	X:g.153008444G>A	-
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)	215	ABCD1	Pathogenic	-1	RCV002251033;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008445	153008445	153008445	-
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)	215	ABCD1	Uncertain significance	rs782065134	RCV000426932\|RCV001833530;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008450	153008450	X:g.153008450C>G	ClinGen:CA10550317	CN169374 not specified;
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)	215	ABCD1	Pathogenic	-1	RCV000012061;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008451	153008452	NC_000023.10:g.153008452_153008453del	OMIM:300371.0018	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1791T>C (p.Ala597_Met598=)	215	ABCD1	Likely benign	-1	RCV003009421;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008451	153008451	NC_000023.10:g.153008451T>C	-
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)	215	ABCD1	Uncertain significance	-1	RCV003058832;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008454	153008454	NC_000023.10:g.153008454G>T	-
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)	215	ABCD1	Pathogenic	rs398123107	RCV000077960\|RCV002513814;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008462	153008462	X:g.153008462G>A	ClinGen:CA278410	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)	215	ABCD1	Uncertain significance	-1	RCV002296614;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008462	153008462	153008462	-
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=)	215	ABCD1	Likely benign	-1	RCV001496237;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008469	153008469	153008469	-
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)	215	ABCD1	Benign	rs151201945	RCV000299483\|RCV001355186;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008470	153008470	X:g.153008470G>A	ClinGen:CA10550321	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1812C>T (p.Val604_Leu605=)	215	ABCD1	Likely benign	-1	RCV002881100;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008472	153008472	NC_000023.10:g.153008472C>T	-
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002237199\|RCV003138105;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008474	153008474	153008474	-
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	rs201774661	RCV000202845\|RCV000354458\|RCV001354702;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MONDO:MONDO:0010247,MedGen:C2026514, Orphanet:139396	X	153008476	153008476	X:g.153008476T>C	ClinGen:CA249048,UniProtKB:P33897#VAR_000080	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)	215	ABCD1	Pathogenic	-1	RCV001386772;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008477	153008477	153008477	-
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs140263823	RCV000180096\|RCV001085784\|RCV002408781;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153008478	153008478	X:g.153008478G>A	ClinGen:CA247486	CN169374 not specified;
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557055253	RCV000633482;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008478	153008481	X:g.153008478_153008481del	ClinGen:CA658799882	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=)	215	ABCD1	Likely benign	-1	RCV001403529;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008478	153008478	153008478	-
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)	215	ABCD1	Conflicting interpretations of pathogenicity	rs2091772324	RCV001307498\|RCV002411986;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153008480	153008480	153008480	-
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)	215	ABCD1	Pathogenic	-1	RCV001389342;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008480	153008481	153008480	-
NM_000033.4(ABCD1):c.1821T>G (p.Gly607_Gly608=)	215	ABCD1	Likely benign	-1	RCV003057318;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008481	153008481	NC_000023.10:g.153008481T>G	-
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)	215	ABCD1	Likely pathogenic	rs2091772331	RCV001230399;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008482	153008482	X:g.153008482G>A	-
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)	215	ABCD1	Conflicting interpretations of pathogenicity	rs78993751	RCV000203059\|RCV000990979\|RCV001358088;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008483	153008483	X:g.153008483G>A	ClinGen:CA249262,UniProtKB:P33897#VAR_013355	CN169374 not specified;
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)	215	ABCD1	Likely pathogenic	-1	RCV001897900;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008483	153008483	153008483	-
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	215	ABCD1	Pathogenic	rs150346282	RCV000152721\|RCV000723952;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008485	153008485	X:g.153008485G>A	ClinGen:CA278461,UniProtKB:P33897#VAR_000082	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)	215	ABCD1	Likely pathogenic	rs1557055260	RCV000633491;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008486	153008486	NC_000023.10:g.153008486A>G	ClinGen:CA415116021	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1830G>A (p.Lys610_Gln611=)	215	ABCD1	Likely benign	-1	RCV003005633;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008490	153008490	NC_000023.10:g.153008490G>A	-
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=)	215	ABCD1	Likely benign	-1	RCV001478576;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008499	153008499	153008499	-
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)	215	ABCD1	Conflicting interpretations of pathogenicity	rs146525445	RCV000990980\|RCV001838338;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008500	153008500	X:g.153008500G>A	-
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	215	ABCD1	Pathogenic/Likely pathogenic	rs4010613	RCV000012065\|RCV001093003;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008509	153008509	X:g.153008509C>T	ClinGen:CA278117,UniProtKB:P33897#VAR_000083,OMIM:300371.0022	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	215	ABCD1	Pathogenic	rs11146842	RCV000012064\|RCV000723904;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008510	153008510	NC_000023.10:g.153008510G>A	ClinGen:CA278116,UniProtKB:P33897#VAR_000085,OMIM:300371.0021
NM_000033.4(ABCD1):c.1853del (p.Met618fs)	215	ABCD1	Pathogenic	rs1603235941	RCV000990981;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008513	153008513	X:g.153008513_153008513del	-
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)	215	ABCD1	Likely pathogenic	-1	RCV002248956;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008513	153008513	153008513	-
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)	215	ABCD1	Uncertain significance	-1	RCV002304576;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008517	153008517	153008517	-
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=)	215	ABCD1	Likely benign	-1	RCV001431179;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008520	153008520	153008520	-
NM_000033.4(ABCD1):c.1865+1G>A	215	ABCD1	Pathogenic	rs1569541198	RCV000012067;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008526	153008526	NC_000023.10:g.153008526G>A	OMIM:300371.0024	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1865+8C>T	215	ABCD1	Likely benign	-1	RCV001496782;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008533	153008533	153008533	-
NM_000033.4(ABCD1):c.1865+11C>T	215	ABCD1	Likely benign	rs781956636	RCV000508577\|RCV002527343;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008536	153008536	X:g.153008536C>T	ClinGen:CA10550332	CN169374 not specified;
NM_000033.4(ABCD1):c.1865+12G>A	215	ABCD1	Likely benign	-1	RCV001454149;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008537	153008537	153008537	-
NM_000033.4(ABCD1):c.1865+16C>T	215	ABCD1	Benign	-1	RCV002200409;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008541	153008541	153008541	-
NM_000033.4(ABCD1):c.1865+17G>A	215	ABCD1	Likely benign	-1	RCV001498810;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008542	153008542	153008542	-
NC_000023.11:g.(?_153743201)_(153743755_?)del	215	ABCD1	Pathogenic	-1	RCV000812676;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008655	153009209		-
NC_000023.10:g.(?_153008655)_(153009189_?)del	215	ABCD1	Pathogenic	-1	RCV001953486;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008655	153009189	-1	-
NM_000033.4(ABCD1):c.1866-16C>T	215	ABCD1	Likely benign	-1	RCV002578468;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008659	153008659	NC_000023.10:g.153008659C>T	-
NM_000033.4(ABCD1):c.1866-15G>A	215	ABCD1	Uncertain significance	-1	RCV003039340;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008660	153008660	NC_000023.10:g.153008660G>A	-
NM_000033.4(ABCD1):c.1866-13C>T	215	ABCD1	Likely benign	-1	RCV001392738;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008662	153008662	153008662	-
NM_000033.4(ABCD1):c.1866-11C>T	215	ABCD1	Likely benign	-1	RCV002116791;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008664	153008664	153008664	-
NM_000033.4(ABCD1):c.1866-10G>A	215	ABCD1	Pathogenic/Likely pathogenic	rs398123108	RCV000077961\|RCV000414732\|RCV000626568\|RCV001000924\|RCV002408605;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002064,MedGen:C0231687; Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype O	X	153008665	153008665	X:g.153008665G>A	ClinGen:CA278412,OMIM:300371.0004	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1866-10G>T	215	ABCD1	Likely benign	-1	RCV001482016;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008665	153008665	153008665	-
NM_000033.4(ABCD1):c.1866-7C>T	215	ABCD1	Likely benign	-1	RCV002137489;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008668	153008668	153008668	-
NM_000033.4(ABCD1):c.1866-4C>T	215	ABCD1	Likely benign	-1	RCV002178412;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008671	153008671	153008671	-
NM_000033.4(ABCD1):c.1866-1G>A	215	ABCD1	Likely pathogenic	rs1557055311	RCV000704173;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008674	153008674	NC_000023.10:g.153008674G>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=)	215	ABCD1	Likely benign	-1	RCV002208198;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008684	153008684	153008684	-
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557055316	RCV000699538\|RCV001784336;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008685	153008685	X:g.153008685G>A	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)	215	ABCD1	Uncertain significance	-1	RCV003007657;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008685	153008686	NC_000023.10:g.153008685_153008686delinsTT	-
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002248957;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008689	153008689	153008689	-
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=)	215	ABCD1	Likely benign	-1	RCV001474809;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008690	153008690	153008690	-
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)	215	ABCD1	Likely pathogenic	-1	RCV002248958;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008695	153008695	153008695	-
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)	215	ABCD1	Likely pathogenic	-1	RCV002017882;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008700	153008700	153008700	-
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)	215	ABCD1	Pathogenic	rs2091773525	RCV001204546;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008701	153008701	X:g.153008701G>A	-
NC_000023.10:g.(?_153008701)_(153011800_?)del	215	ABCD1	Pathogenic	-1	RCV001958954;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008701	153011800	-1	-
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)	215	ABCD1	Likely benign	rs1557055319	RCV000633493;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008702	153008702	X:g.153008702C>T	ClinGen:CA519230938	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)	215	ABCD1	Pathogenic	rs1064793877	RCV000480881\|RCV000853230;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008704	153008704	X:g.153008704C>T	ClinGen:CA16621227	CN517202 not provided;
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)	215	ABCD1	Benign/Likely benign	rs202125585	RCV000876325\|RCV001079452;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008708	153008708	X:g.153008708C>T	-
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)	215	ABCD1	Pathogenic/Likely pathogenic	rs202125585	RCV001230853\|RCV003130204;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008708	153008708	X:g.153008708C>G	-
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782041940	RCV000488080\|RCV000633484;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008709	153008709	X:g.153008709G>A	ClinGen:CA10604122	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs141110958	RCV000633497\|RCV001086228\|RCV002413815;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153008711	153008711	X:g.153008711C>T	ClinGen:CA10550355	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1905G>T (p.Val635_Ser636=)	215	ABCD1	Likely benign	-1	RCV002593314;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008714	153008714	NC_000023.10:g.153008714G>T	-
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)	215	ABCD1	Pathogenic	rs2091773697	RCV001253241;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008716	153008716	X:g.153008716G>T	-
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=)	215	ABCD1	Likely benign	-1	RCV001492062;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008720	153008720	153008720	-
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)	215	ABCD1	Uncertain significance	rs886044887	RCV000279661\|RCV001209093;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008721	153008721	X:g.153008721G>C	ClinGen:CA10606398	CN169374 not specified;
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)	215	ABCD1	Uncertain significance	rs886044887	RCV001330911\|RCV003135987;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008721	153008721	153008721	-
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)	215	ABCD1	Conflicting interpretations of pathogenicity	rs199723613	RCV000633496;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008723	153008723	X:g.153008723C>T	ClinGen:CA10550358	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met)	215	ABCD1	Uncertain significance	-1	RCV002009788;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008724	153008724	153008724	-
NM_000033.4(ABCD1):c.1917G>A (p.Val639_Glu640=)	215	ABCD1	Likely benign	-1	RCV002618133;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008726	153008726	NC_000023.10:g.153008726G>A	-
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	215	ABCD1	Likely pathogenic	rs1603236012	RCV000824353;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008728	153008728	X:g.153008728A>G	-
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=)	215	ABCD1	Likely benign	-1	RCV002119942;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008729	153008729	153008729	-
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)	215	ABCD1	Uncertain significance	-1	RCV002622599;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008733	153008733	NC_000023.10:g.153008733A>G	-
NM_000033.4(ABCD1):c.1929C>A (p.Ile643=)	215	ABCD1	Likely benign	-1	RCV002165661;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008738	153008738	153008738	-
NM_000033.4(ABCD1):c.1933del (p.Gln645fs)	215	ABCD1	Pathogenic/Likely pathogenic	rs1603236013	RCV001008624\|RCV001862753;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008741	153008741	X:g.153008741_153008741del	-
NM_000033.4(ABCD1):c.1932C>T (p.Phe644=)	215	ABCD1	Likely benign	-1	RCV001484013;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008741	153008741	153008741	-
NM_000033.4(ABCD1):c.1935G>A (p.Gln645_Ala646=)	215	ABCD1	Likely benign	-1	RCV003033291;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008744	153008744	NC_000023.10:g.153008744G>A	-
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=)	215	ABCD1	Likely benign	-1	RCV001410416\|RCV002413975;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153008747	153008747	153008747	-
NM_000033.4(ABCD1):c.1941C>T (p.Ala647=)	215	ABCD1	Likely benign	-1	RCV002133402;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008750	153008750	153008750	-
NM_000033.4(ABCD1):c.1944G>A (p.Lys648=)	215	ABCD1	Likely benign	-1	RCV001485313;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008753	153008753	153008753	-
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)	215	ABCD1	Uncertain significance	-1	RCV002599968;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008754	153008754	NC_000023.10:g.153008754G>A	-
NM_000033.4(ABCD1):c.1947C>T (p.Asp649=)	215	ABCD1	Likely benign	-1	RCV001397308;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008756	153008756	153008756	-
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)	215	ABCD1	Uncertain significance	rs1557055332	RCV001054555;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008757	153008757	X:g.153008757G>C	-
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)	215	ABCD1	Uncertain significance	-1	RCV001786859\|RCV001868885;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008757	153008757	153008757	-
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1557055333	RCV001206153\|RCV001772021\|RCV002318878;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153008758	153008758	NC_000023.10:g.153008758C>T	-
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)	215	ABCD1	Likely benign	rs74315281	RCV001167967;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008759	153008759	X:g.153008759G>A	-
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=)	215	ABCD1	Likely benign	-1	RCV002203189;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008759	153008759	153008759	-
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)	215	ABCD1	Uncertain significance	rs2091773987	RCV001225791;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008761	153008761	X:g.153008761G>T	-
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)	215	ABCD1	Uncertain significance	rs2091774003	RCV001250797;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008766	153008767	X:g.153008766_153008767insCCCTGCTCTCCATCA	-
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=)	215	ABCD1	Likely benign	rs782809410	RCV000892364;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008769	153008769	X:g.153008769C>T	-
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)	215	ABCD1	Pathogenic	rs2091774046	RCV001041737;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008770	153008770	X:g.153008770T>C	-
NM_000033.4(ABCD1):c.1965C>T (p.Leu655_Ser656=)	215	ABCD1	Likely benign	-1	RCV002664125;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008774	153008774	NC_000023.10:g.153008774C>T	-
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)	215	ABCD1	Uncertain significance	-1	RCV001878561\|RCV003136216;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008775	153008775	153008775	-
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)	215	ABCD1	Likely pathogenic	rs1603236020	RCV000856679;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008776	153008776	X:g.153008776C>T	-
NM_000033.4(ABCD1):c.1968C>T (p.Ser656_Ile657=)	215	ABCD1	Likely benign	-1	RCV002811252;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008777	153008777	NC_000023.10:g.153008777C>T	-
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala)	215	ABCD1	Uncertain significance	-1	RCV002010843;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008781	153008781	153008781	-
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	215	ABCD1	Likely pathogenic	rs1557055337	RCV000761218;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008782	153008782	NC_000023.10:g.153008782C>T	-
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr)	215	ABCD1	Uncertain significance	rs2091774102	RCV001320062;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008784	153008784	153008784	-
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	215	ABCD1	Pathogenic	rs1569541203	RCV000710056\|RCV001268534;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153008787	153008787	NC_000023.10:g.153008787C>T	-
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)	215	ABCD1	Uncertain significance	rs1557055340	RCV000552581;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008788	153008788	NC_000023.10:g.153008788G>T	ClinGen:CA415117805	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	215	ABCD1	Pathogenic/Likely pathogenic	rs1557055340	RCV000778893;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008788	153008788	NC_000023.10:g.153008788G>A	-
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)	215	ABCD1	Uncertain significance	-1	RCV002726673;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008791	153008791	NC_000023.10:g.153008791C>T	-
NM_000033.4(ABCD1):c.1983C>T (p.Pro661_Ser662=)	215	ABCD1	Likely benign	-1	RCV003082963;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008792	153008792	NC_000023.10:g.153008792C>T	-
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro)	215	ABCD1	Uncertain significance	-1	RCV002040972;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008793	153008793	153008793	-
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=)	215	ABCD1	Likely benign	-1	RCV002185474;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008795	153008795	153008795	-
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)	215	ABCD1	Pathogenic	-1	RCV001962893;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008796	153008797	153008796	-
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)	215	ABCD1	Conflicting interpretations of pathogenicity	rs886044882	RCV000307057\|RCV002463361;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008797	153008797	X:g.153008797T>C	ClinGen:CA10606220	CN169374 not specified;
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)	215	ABCD1	Pathogenic	-1	RCV001382141;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008798	153008799	153008798	-
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)	215	ABCD1	Pathogenic	rs2091774163	RCV001093621;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008800	153008800	153008800	-
NM_000033.4(ABCD1):c.1991+1G>A	215	ABCD1	Pathogenic	-1	RCV003050674;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008801	153008801	NC_000023.10:g.153008801G>A	-
NM_000033.4(ABCD1):c.1991+7G>A	215	ABCD1	Likely benign	-1	RCV001424847;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008807	153008807	153008807	-
NM_000033.4(ABCD1):c.1991+8C>T	215	ABCD1	Conflicting interpretations of pathogenicity	-1	RCV002188170\|RCV002509752;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN169374	X	153008808	153008808	153008808	-
NM_000033.4(ABCD1):c.1991+68_1992-4del	215	ABCD1	Uncertain significance	rs1603236039	RCV000850185;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008862	153008933	X:g.153008862_153008933del	-
NM_000033.4(ABCD1):c.1992-32C>T	215	ABCD1	Benign	rs4898368	RCV001536741\|RCV001548920;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008911	153008911	X:g.153008911C>T	ClinGen:CA10550379	CN169374 not specified;
NM_000033.4(ABCD1):c.1992-10T>C	215	ABCD1	Likely benign	-1	RCV002178387;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008933	153008933	153008933	-
NM_000033.4(ABCD1):c.1992-9C>T	215	ABCD1	Likely benign	-1	RCV002107506;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008934	153008934	153008934	-
NM_000033.4(ABCD1):c.1992-8C>T	215	ABCD1	Likely benign	rs1603236074	RCV000932192\|RCV001436848;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008935	153008935	X:g.153008935C>T	-
NM_000033.4(ABCD1):c.1992-6G>A	215	ABCD1	Uncertain significance	-1	RCV002816134;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008937	153008937	NC_000023.10:g.153008937G>A	-
NM_000033.4(ABCD1):c.1992-2A>C	215	ABCD1	Uncertain significance	-1	RCV001842262;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008941	153008941	153008941	-
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)	215	ABCD1	Likely pathogenic	rs1557055392	RCV000530996;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008948	153008949	NC_000023.10:g.153008949_153008950insGC	ClinGen:CA658659061	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)	215	ABCD1	Uncertain significance	rs2091775035	RCV001051598;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008948	153008948	X:g.153008948A>G	-
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser)	215	ABCD1	Uncertain significance	-1	RCV001918090;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008948	153008948	153008948	-
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)	215	ABCD1	Pathogenic	rs1170974058	RCV000541276;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008949	153008949	NC_000023.10:g.153008949C>A	ClinGen:CA415118105	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)	215	ABCD1	Pathogenic	rs1170974058	RCV000990982;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008949	153008949	X:g.153008949C>G	-
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)	215	ABCD1	Pathogenic	rs797044625	RCV000173620\|RCV002516594;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008950	153008951	X:g.153008950_153008951del	ClinGen:CA278496	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)	215	ABCD1	Uncertain significance	rs2091775068	RCV001048143;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008950	153008950	X:g.153008950C>T	-
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)	215	ABCD1	Pathogenic	-1	RCV001946695;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008950	153008950	153008950	-
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)	215	ABCD1	Uncertain significance	rs1603236086	RCV000850157;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008953	153008953	X:g.153008953A>C	-
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)	215	ABCD1	Conflicting interpretations of pathogenicity	rs1603236086	RCV001249460;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008953	153008953	153008953	-
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)	215	ABCD1	Uncertain significance	rs1557055398	RCV000633489;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008954	153008954	X:g.153008954C>T	ClinGen:CA415118177	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)	215	ABCD1	Pathogenic	rs2091775127	RCV001210435;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008957	153008957	X:g.153008957A>G	-
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln)	215	ABCD1	Uncertain significance	-1	RCV001971138;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008958	153008958	153008958	-
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)	215	ABCD1	Likely pathogenic	rs1569541207	RCV000761219;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008960	153008961	NC_000023.10:g.153008961dup	-
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)	215	ABCD1	Uncertain significance	-1	RCV002735607;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008962	153008962	NC_000023.10:g.153008962C>G	-
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)	215	ABCD1	Uncertain significance	-1	RCV003022698;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008968	153008968	NC_000023.10:g.153008968T>G	-
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)	215	ABCD1	Pathogenic	-1	RCV002839526;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008969	153008970	NC_000023.10:g.153008970_153008976dup	-
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)	215	ABCD1	Benign	rs76637913	RCV000152722\|RCV000259599\|RCV000675198\|RCV002312671;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	153008970	153008970	X:g.153008970C>T	ClinGen:CA179701	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2022T>C (p.Asp674=)	215	ABCD1	Likely benign	-1	RCV001443060;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008973	153008973	153008973	-
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)	215	ABCD1	Pathogenic	-1	RCV001380654;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008978	153008979	153008978	-
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=)	215	ABCD1	Likely benign	-1	RCV001480524;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008982	153008982	153008982	-
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)	215	ABCD1	Likely pathogenic	rs1557055405	RCV000625957;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008986	153008986	X:g.153008986T>A	ClinGen:CA415118445	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)	215	ABCD1	Benign/Likely benign	rs782327280	RCV000633498\|RCV002315952;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153008994	153008994	X:g.153008994C>T	ClinGen:CA10550391	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)	215	ABCD1	Likely benign	rs782327280	RCV000828005\|RCV001088442;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008994	153008994	X:g.153008994C>G	-
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)	215	ABCD1	Conflicting interpretations of pathogenicity	rs781793261	RCV000323903;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153008995	153008995	X:g.153008995G>C	ClinGen:CA10550393	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)	215	ABCD1	Uncertain significance	-1	RCV002017025;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009002	153009002	153009002	-
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)	215	ABCD1	Uncertain significance	-1	RCV002806321;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009004	153009004	NC_000023.10:g.153009004G>A	-
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)	215	ABCD1	Uncertain significance	rs782376163	RCV000435174\|RCV001247652;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009016	153009016	X:g.153009016C>T	ClinGen:CA10550394	CN169374 not specified;
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)	215	ABCD1	Uncertain significance	-1	RCV003045891;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009017	153009017	NC_000023.10:g.153009017G>A	-
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)	215	ABCD1	Uncertain significance	rs2091775448	RCV001330912;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009023	153009023	153009023	-
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)	215	ABCD1	Uncertain significance	-1	RCV002810318;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009024	153009024	NC_000023.10:g.153009024C>A	-
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=)	215	ABCD1	Likely benign	rs1557055415	RCV000980170;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009027	153009027	X:g.153009027G>A	-
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)	215	ABCD1	Uncertain significance	rs782311214	RCV001227000\|RCV001664767;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153009029	153009029	X:g.153009029C>T	-
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)	215	ABCD1	Likely benign	rs781935761	RCV000877360;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009030	153009030	X:g.153009030G>A	-
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=)	215	ABCD1	Likely benign	-1	RCV002136568;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009033	153009033	153009033	-
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782157913	RCV001346480;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009038	153009038	153009038	-
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)	215	ABCD1	Uncertain significance	-1	RCV002619875;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009040	153009040	NC_000023.10:g.153009040C>A	-
NM_000033.4(ABCD1):c.2103G>A (p.Gln701_Gln702=)	215	ABCD1	Likely benign	-1	RCV002786305;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009054	153009054	NC_000023.10:g.153009054G>A	-
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=)	215	ABCD1	Likely benign	-1	RCV001977978;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009058	153009058	153009058	-
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)	215	ABCD1	Uncertain significance	-1	RCV001892883\|RCV003136262;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153009062	153009062	153009062	-
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=)	215	ABCD1	Benign	rs372309740	RCV000633495;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009063	153009063	NC_000023.10:g.153009063G>A	ClinGen:CA10550404	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2118T>A (p.Ile706=)	215	ABCD1	Likely benign	-1	RCV001403375;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009069	153009069	153009069	-
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=)	215	ABCD1	Likely benign	-1	RCV001429265;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009075	153009075	153009075	-
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)	215	ABCD1	Uncertain significance	rs782583464	RCV000811902;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009082	153009082	X:g.153009082C>T	-
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys)	215	ABCD1	Uncertain significance	rs1557055441	RCV000686557\|RCV002422472;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153009085	153009085	X:g.153009085C>T	-	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)	215	ABCD1	Uncertain significance	-1	RCV001882207;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009086	153009086	153009086	-
NM_000033.4(ABCD1):c.2136C>T (p.Arg712_Leu713=)	215	ABCD1	Likely benign	-1	RCV003025948;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009087	153009087	NC_000023.10:g.153009087C>T	-
NM_000033.4(ABCD1):c.2148C>T (p.Leu716_Cys717=)	215	ABCD1	Likely benign	-1	RCV002824464;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009099	153009099	NC_000023.10:g.153009099C>T	-
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)	215	ABCD1	Uncertain significance	-1	RCV002982894;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009108	153009108	NC_000023.10:g.153009108C>G	-
NM_000033.4(ABCD1):c.2163C>T (p.Gly721_Glu722=)	215	ABCD1	Uncertain significance	-1	RCV003061179;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009114	153009114	NC_000023.10:g.153009114C>T	-
NM_000033.4(ABCD1):c.2169C>T (p.Ala723=)	215	ABCD1	Likely benign	-1	RCV001479641;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009120	153009120	153009120	-
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)	215	ABCD1	Conflicting interpretations of pathogenicity	rs782809184	RCV000426538\|RCV002524859;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009124	153009124	X:g.153009124G>A	ClinGen:CA10550412	CN169374 not specified;
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=)	215	ABCD1	Likely benign	-1	RCV002192478;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009129	153009129	153009129	-
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)	215	ABCD1	Uncertain significance	-1	RCV002576362;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009131	153009131	NC_000023.10:g.153009131C>T	-
NM_000033.4(ABCD1):c.2181G>A (p.Ala727=)	215	ABCD1	Likely benign	-1	RCV001410471;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009132	153009132	153009132	-
NM_000033.4(ABCD1):c.2184T>C (p.His728_Val729=)	215	ABCD1	Likely benign	-1	RCV002598753;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009135	153009135	NC_000023.10:g.153009135T>C	-
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)	215	ABCD1	Uncertain significance	rs1603236153	RCV000793854;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009139	153009139	X:g.153009139C>T	-
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)	215	ABCD1	Uncertain significance	-1	RCV001366386;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009140	153009140	153009140	-
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)	215	ABCD1	Likely benign	rs193922096	RCV000029287\|RCV002311525;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123	X	153009141	153009141	X:g.153009141G>A	ClinGen:CA278378	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2190G>C (p.Pro730=)	215	ABCD1	Likely benign	-1	RCV001506846;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009141	153009141	153009141	-
NM_000033.4(ABCD1):c.2199C>T (p.Ser733=)	215	ABCD1	Likely benign	-1	RCV002129560;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009150	153009150	153009150	-
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)	215	ABCD1	Conflicting interpretations of pathogenicity	rs368462762	RCV000544959\|RCV002431553\|RCV003128625;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	153009152	153009152	NC_000023.10:g.153009152C>T	ClinGen:CA10550417	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)	215	ABCD1	Likely benign	-1	RCV001436296;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009153	153009153	153009153	-
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser)	215	ABCD1	Uncertain significance	rs1290462360	RCV000762680\|RCV001855714;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009160	153009160	NC_000023.10:g.153009160C>T	-
NM_000033.4(ABCD1):c.2211T>C (p.Pro737_Gly738=)	215	ABCD1	Likely benign	-1	RCV003021668;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009162	153009162	NC_000023.10:g.153009162T>C	-
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=)	215	ABCD1	Likely benign	-1	RCV002157829;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009165	153009165	153009165	-
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)	215	ABCD1	Uncertain significance	rs2091776291	RCV001062117;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009172	153009172	X:g.153009172C>T	-
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp)	215	ABCD1	Uncertain significance	-1	RCV001926054;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009179	153009179	153009179	-
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)	215	ABCD1	Uncertain significance	-1	RCV003106581;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009189	153009189	NC_000023.10:g.153009189A>G	-
NM_000033.4(ABCD1):c.*8G>C	215	ABCD1	Benign	rs2229539	RCV000077949\|RCV000360011\|RCV000675199\|RCV000715337;	N	MedGen:CN169374\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202\|MedGen:C2711754	X	153009197	153009197	X:g.153009197G>C	ClinGen:CA145611	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*10C>T	215	ABCD1	Uncertain significance	rs1057515814	RCV000265151;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009199	153009199	X:g.153009199C>T	ClinGen:CA10651752	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*12C>T	215	ABCD1	Uncertain significance	rs1413638807	RCV001169826;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009201	153009201	X:g.153009201C>T	-
NM_000033.4(ABCD1):c.*123C>T	215	ABCD1	Likely benign	rs186542134	RCV000320257\|RCV001591043;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43\|MedGen:CN517202	X	153009312	153009312	NC_000023.10:g.153009312C>T	ClinGen:CA10654278	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*196C>G	215	ABCD1	Uncertain significance	rs367591611	RCV000384405;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009385	153009385	NC_000023.10:g.153009385C>G	ClinGen:CA10653821	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*208G>C	215	ABCD1	Uncertain significance	rs193922092	RCV000029288;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009397	153009397	X:g.153009397G>C	ClinGen:CA278380	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*259A>G	215	ABCD1	Uncertain significance	rs374092960	RCV000290033;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009448	153009448	NC_000023.10:g.153009448A>G	ClinGen:CA10651753	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*287G>A	215	ABCD1	Uncertain significance	rs1169661425	RCV001165850;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009476	153009476	X:g.153009476G>A	-
NM_000033.4(ABCD1):c.*334C>G	215	ABCD1	Uncertain significance	rs1252368354	RCV001165851;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009523	153009523	X:g.153009523C>G	-
NM_000033.4(ABCD1):c.*360C>T	215	ABCD1	Uncertain significance	rs1281220823	RCV001165852;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009549	153009549	X:g.153009549C>T	-
NM_000033.4(ABCD1):c.*409C>G	215	ABCD1	Uncertain significance	rs2091778411	RCV001165853;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009598	153009598	X:g.153009598C>G	-
NM_000033.4(ABCD1):c.*412T>C	215	ABCD1	Uncertain significance	rs1057515815	RCV000326201;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009601	153009601	X:g.153009601T>C	ClinGen:CA10653826	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*450T>A	215	ABCD1	Uncertain significance	rs1479983733	RCV001165854;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009639	153009639	X:g.153009639T>A	-
NM_000033.4(ABCD1):c.*473C>T	215	ABCD1	Benign	rs782343473	RCV000380867;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009662	153009662	NC_000023.10:g.153009662C>T	ClinGen:CA10654279	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*476A>G	215	ABCD1	Uncertain significance	rs372234126	RCV001167426;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009665	153009665	X:g.153009665A>G	-
NM_000033.4(ABCD1):c.*481G>T	215	ABCD1	Uncertain significance	rs199942817	RCV000296588;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009670	153009670	NC_000023.10:g.153009670G>T	ClinGen:CA10653827	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*530G>A	215	ABCD1	Uncertain significance	rs67211405	RCV000351429;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009719	153009719	NC_000023.10:g.153009719G>A	ClinGen:CA10646038	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*548GAGAGGG[1]	215	ABCD1	Uncertain significance	rs1057515816	RCV000404605;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009735	153009741	NC_000023.10:g.153009737GAGAGGG[1]	ClinGen:CA10653830	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*564G>A	215	ABCD1	Uncertain significance	rs782819878	RCV000293158;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009753	153009753	NC_000023.10:g.153009753G>A	ClinGen:CA10651756	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*608G>A	215	ABCD1	Benign	rs73640819	RCV000338821;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009797	153009797	NC_000023.10:g.153009797G>A	ClinGen:CA10653831	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*621C>T	215	ABCD1	Uncertain significance	rs1383766741	RCV001167427;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009810	153009810	X:g.153009810C>T	-
NM_000033.4(ABCD1):c.*668C>T	215	ABCD1	Likely benign	rs187420166	RCV000394965;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009857	153009857	NC_000023.10:g.153009857C>T	ClinGen:CA10646041	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*767C>T	215	ABCD1	Uncertain significance	rs1276642493	RCV001167428;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009956	153009956	X:g.153009956C>T	-
NM_000033.4(ABCD1):c.*795C>T	215	ABCD1	Uncertain significance	rs1057515817	RCV000298659;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009984	153009984	NC_000023.10:g.153009984C>T	ClinGen:CA10653836	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*802G>T	215	ABCD1	Uncertain significance	rs879957599	RCV001168037;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009991	153009991	X:g.153009991G>T	-
NM_000033.4(ABCD1):c.*805G>C	215	ABCD1	Uncertain significance	rs879979866	RCV001168038;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153009994	153009994	X:g.153009994G>C	-
NM_000033.4(ABCD1):c.*825C>T	215	ABCD1	Uncertain significance	rs1557055736	RCV001168039;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010014	153010014	X:g.153010014C>T	-
NM_000033.4(ABCD1):c.*830A>G	215	ABCD1	Uncertain significance	rs1557055737	RCV001168040;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010019	153010019	X:g.153010019A>G	-
NM_000033.4(ABCD1):c.*831G>T	215	ABCD1	Uncertain significance	rs879964075	RCV001168041;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010020	153010020	X:g.153010020G>T	-
NM_000033.4(ABCD1):c.*870G>T	215	ABCD1	Uncertain significance	rs72616452	RCV000353490;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010059	153010059	NC_000023.10:g.153010059G>T	ClinGen:CA10646045	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*877C>T	215	ABCD1	Benign	rs11803	RCV000394962;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010066	153010066	NC_000023.10:g.153010066C>T	ClinGen:CA10653837	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*894G>A	215	ABCD1	Benign	rs1055847	RCV000305050;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010083	153010083	NC_000023.10:g.153010083G>A	ClinGen:CA10646046	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*901G>A	215	ABCD1	Uncertain significance	rs75637470	RCV001168811;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010090	153010090	X:g.153010090G>A	-
NM_000033.4(ABCD1):c.*903G>A	215	ABCD1	Uncertain significance	rs78155328	RCV000359653;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010092	153010092	NC_000023.10:g.153010092G>A	ClinGen:CA10651758	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.*911G>A	215	ABCD1	Uncertain significance	rs2091780866	RCV001168812;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010100	153010100	X:g.153010100G>A	-
NM_000033.4(ABCD1):c.*948C>T	215	ABCD1	Uncertain significance	rs112109783	RCV001168813;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010137	153010137	X:g.153010137C>T	-
NM_000033.4(ABCD1):c.*969A>G	215	ABCD1	Uncertain significance	rs1557055778	RCV001168814;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010158	153010158	X:g.153010158A>G	-
NM_000033.4(ABCD1):c.*980T>C	215	ABCD1	Uncertain significance	rs1557055787	RCV001168815;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010169	153010169	X:g.153010169T>C	-
NM_000033.4(ABCD1):c.*985C>G	215	ABCD1	Benign	rs782309410	RCV000265039;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010174	153010174	NC_000023.10:g.153010174C>G	ClinGen:CA10646049	C0162309 300100 Adrenoleukodystrophy;
NM_000033.3(ABCD1):c.*1035C>T	215	ABCD1	Benign	rs6643782	RCV000406870;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	153010224	153010224	X:g.153010224C>T	ClinGen:CA10654743	C0162309 300100 Adrenoleukodystrophy;
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro)	-1	ABCD1;BCAP31	Likely pathogenic	-1	RCV002274493;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152991254	152991254	152991254	-
GRCh37/hg19 Xq28(chrX:152980470-153032459)	-1	ABCD1;BCAP31;PLXNB3	Pathogenic	-1	RCV000767810;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43; MONDO:MONDO:0010334,MedGen:C3806634,OMIM:300475, Orphanet:369939, Orphanet:369942	X	152980470	153032459		-
NM_001904.4(CTNNB1):c.2140C>T (p.Pro714Ser)	1499	CTNNB1	Uncertain significance	-1	RCV003142312;	N	MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	3	41280627	41280627	NC_000003.11:g.41280627C>T	-
NC_000023.10:g.(?_152014869)_(153363122_?)dup	-1	subset of 34 genes: ABCD1:AVPR2:CCNQ:L1CAM:MECP2:N	Uncertain significance	-1	RCV003109220\|RCV003119105;	N	MedGen:CN517202\|MONDO:MONDO:0018544,MedGen:C0162309,OMIM:300100, Orphanet:43	X	152014869	153363122		-

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