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
Deletion	NM_000033.4(ABCD1):c.1628del (p.Pro543fs)	ABCD1	Pathogenic	X	153005683	153005683	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	ABCD1	Pathogenic/Likely pathogenic	X	153005654	153005654	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)	ABCD1	Likely pathogenic	X	153005649	153005649	T	C	criteria provided, single submitter	ClinGen:CA278375
single nucleotide variant	NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)	ABCD1	Likely pathogenic	X	153005643	153005643	G	A	criteria provided, single submitter	ClinGen:CA278404
single nucleotide variant	NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)	ABCD1	Pathogenic	X	153005624	153005624	C	T	criteria provided, single submitter	ClinGen:CA415111462
single nucleotide variant	NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	ABCD1	Pathogenic	X	153005610	153005610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278403,UniProtKB:P33897#VAR_000070
single nucleotide variant	NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)	ABCD1	Pathogenic	X	153005609	153005609	C	G	criteria provided, single submitter	ClinGen:CA415111345
single nucleotide variant	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1	Pathogenic/Likely pathogenic	X	153005609	153005609	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278115,UniProtKB:P33897#VAR_000071,OMIM:300371.0016
single nucleotide variant	NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	ABCD1	Pathogenic/Likely pathogenic	X	153005591	153005591	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000033.4(ABCD1):c.1489-1G>A	ABCD1	Pathogenic	X	153005545	153005545	G	A	criteria provided, single submitter	-