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.1850G>A (p.Arg617His)	ABCD1	Pathogenic	X	153008510	153008510	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278116,UniProtKB:P33897#VAR_000085,OMIM:300371.0021
single nucleotide variant	NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	ABCD1	Pathogenic/Likely pathogenic	X	153008509	153008509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278117,UniProtKB:P33897#VAR_000083,OMIM:300371.0022
Deletion	NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)	ABCD1	Pathogenic	X	152990704	152990729	GGCAGCCAGCCCAGGTGACATGCCGGT	G	criteria provided, single submitter	ClinGen:CA278121,OMIM:300371.0026
Duplication	NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)	ABCD1	Pathogenic/Likely pathogenic	X	153001938	153001939	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278374
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.421G>A (p.Ala141Thr)	ABCD1	Pathogenic	X	152991142	152991142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278381,UniProtKB:P33897#VAR_000033
single nucleotide variant	NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	ABCD1	Pathogenic/Likely pathogenic	X	152991559	152991559	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278382,UniProtKB:P33897#VAR_013347
single nucleotide variant	NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	ABCD1	Pathogenic	X	153002613	153002613	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278401
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.1586G>A (p.Gly529Asp)	ABCD1	Likely pathogenic	X	153005643	153005643	G	A	criteria provided, single submitter	ClinGen:CA278404