副腎白質ジストロフィー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	ABCD1	Likely pathogenic	X	152991164	152991164	A	G	criteria provided, single submitter	ClinGen:CA278103,UniProtKB:P33897#VAR_000034,OMIM:300371.0006
single nucleotide variant	NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991175	152991175	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991208	152991208	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.488G>A (p.Arg163His)	ABCD1	Likely pathogenic	X	152991209	152991209	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043184
Deletion	NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	ABCD1	Pathogenic/Likely pathogenic	X	152991216	152991238	GTCTGGTGGCCCACGCCTACCGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278417
single nucleotide variant	NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	ABCD1	Pathogenic	X	152991242	152991242	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099025
single nucleotide variant	NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	ABCD1	Pathogenic	X	152991250	152991250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10654775
Duplication	NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)	ABCD1	Pathogenic	X	152991256	152991257	A	ACCTACTAC	criteria provided, single submitter	ClinGen:CA658659057
single nucleotide variant	NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	ABCD1	Pathogenic/Likely pathogenic	X	152991286	152991286	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099128
single nucleotide variant	NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	ABCD1	Pathogenic/Likely pathogenic	X	152991314	152991314	C	T	criteria provided, multiple submitters, no conflicts	-