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
Duplication	NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)	ABCD1	Pathogenic	X	152991486	152991487	C	CAACG	criteria provided, single submitter	ClinGen:CA658659058
Insertion	NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)	ABCD1	Likely pathogenic	X	153008948	153008949	A	ACG	criteria provided, single submitter	ClinGen:CA658659061
Deletion	NM_000033.4(ABCD1):c.70del (p.Leu24fs)	ABCD1	Pathogenic	X	152990789	152990789	GC	G	criteria provided, single submitter	ClinGen:CA658659054
single nucleotide variant	NM_000033.4(ABCD1):c.1780+2T>G	ABCD1	Pathogenic	X	153006175	153006175	T	G	criteria provided, single submitter	ClinGen:CA415113455
single nucleotide variant	NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)	ABCD1	Pathogenic	X	152991014	152991014	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098560
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
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.1270C>T (p.Gln424Ter)	ABCD1	Pathogenic	X	153001844	153001844	C	T	criteria provided, single submitter	ClinGen:CA415106267
single nucleotide variant	NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)	ABCD1	Pathogenic	X	153008949	153008949	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415118105
single nucleotide variant	NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	ABCD1	Pathogenic	X	153001685	153001685	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415105485