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.311G>A (p.Arg104His)	ABCD1	Pathogenic/Likely pathogenic	X	152991032	152991032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098597
single nucleotide variant	NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	ABCD1	Pathogenic/Likely pathogenic	X	152991482	152991482	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099842
single nucleotide variant	NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	ABCD1	Pathogenic/Likely pathogenic	X	152991286	152991286	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415099128
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.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
Deletion	NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	ABCD1	Pathogenic/Likely pathogenic	X	152991216	152991238	GTCTGGTGGCCCACGCCTACCGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278417
single nucleotide variant	NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	ABCD1	Pathogenic/Likely pathogenic	X	152991067	152991067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278414,UniProtKB:P33897#VAR_000030
single nucleotide variant	NM_000033.4(ABCD1):c.1866-10G>A	ABCD1	Pathogenic/Likely pathogenic	X	153008665	153008665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278412,OMIM:300371.0004
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