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.1661G>A (p.Arg554His)	ABCD1	Pathogenic	X	153006054	153006054	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278460,UniProtKB:P33897#VAR_009381
single nucleotide variant	NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	ABCD1	Pathogenic	X	153008485	153008485	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P33897#VAR_000082,ClinGen:CA278461
single nucleotide variant	NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly)	ABCD1	Likely pathogenic	X	153001685	153001685	C	G	criteria provided, single submitter	ClinGen:CA278458
single nucleotide variant	NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991608	152991608	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278493,UniProtKB:P33897#VAR_009370
single nucleotide variant	NM_000033.4(ABCD1):c.886T>C (p.Tyr296His)	ABCD1	Likely pathogenic	X	152991607	152991607	T	C	criteria provided, single submitter	ClinGen:CA278494
single nucleotide variant	NM_000033.4(ABCD1):c.1992-2A>G	ABCD1	Pathogenic	X	153008941	153008941	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278497
single nucleotide variant	NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	ABCD1	Pathogenic	X	153001862	153001862	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278507
single nucleotide variant	NM_000033.4(ABCD1):c.1781-1G>A	ABCD1	Pathogenic	X	153008440	153008440	G	A	criteria provided, single submitter	ClinGen:CA278516
single nucleotide variant	NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	ABCD1	Pathogenic/Likely pathogenic	X	153001650	153001650	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603846,UniProtKB:P33897#VAR_000063
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