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.1772G>A (p.Arg591Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153006165	153006165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415113345
single nucleotide variant	NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	ABCD1	Pathogenic/Likely pathogenic	X	153006164	153006164	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278409,UniProtKB:P33897#VAR_009382
single nucleotide variant	NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	ABCD1	Pathogenic	X	153006072	153006072	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278408,UniProtKB:P33897#VAR_000075
single nucleotide variant	NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	ABCD1	Pathogenic	X	153006054	153006054	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278460,UniProtKB:P33897#VAR_009381
Duplication	NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)	ABCD1	Pathogenic	X	153006052	153006053	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)	ABCD1	Likely pathogenic	X	153006053	153006053	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278406
single nucleotide variant	NM_000033.4(ABCD1):c.1635-2A>G	ABCD1	Pathogenic	X	153006026	153006026	A	G	criteria provided, multiple submitters, no conflicts	OMIM:300371.0003
Deletion	NC_000023.11:g.(?_153740082)_(153740247_?)del	ABCD1	Pathogenic	X	153005536	153005701	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	ABCD1	Pathogenic/Likely pathogenic	X	153005685	153005685	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415112044
Deletion	NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs)	ABCD1	Pathogenic	X	153005677	153005684	TCTACATCC	T	criteria provided, single submitter	-