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.-16_10del (p.Met1fs)	ABCD1	Pathogenic	X	152990704	152990729	GGCAGCCAGCCCAGGTGACATGCCGGT	G	criteria provided, single submitter	ClinGen:CA278121,OMIM:300371.0026
Indel	NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)	ABCD1	Pathogenic	X	152990737	152990743	AGGCCCC	CT	criteria provided, single submitter	ClinGen:CA658799880
Deletion	NM_000033.4(ABCD1):c.36del (p.Asn13fs)	ABCD1	Pathogenic	X	152990753	152990753	CG	C	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.31_46del (p.Arg11fs)	ABCD1	Pathogenic	X	152990752	152990767	GCGGGGGAACACGCTGA	G	criteria provided, single submitter	ClinGen:CA278413
Deletion	NM_000033.4(ABCD1):c.70del (p.Leu24fs)	ABCD1	Pathogenic	X	152990789	152990789	GC	G	criteria provided, single submitter	ClinGen:CA658659054
single nucleotide variant	NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	ABCD1	Likely pathogenic	X	152990801	152990801	A	C	criteria provided, single submitter	-
Deletion	NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)	ABCD1	Pathogenic	X	152990866	152990879	GCCCGCCGGGGAGCC	G	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)	ABCD1	Pathogenic	X	152990950	152990951	T	TGGCTCCTGC	criteria provided, single submitter	-
Duplication	NM_000033.4(ABCD1):c.253dup (p.Arg85fs)	ABCD1	Pathogenic	X	152990969	152990970	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278445
single nucleotide variant	NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)	ABCD1	Pathogenic	X	152991014	152991014	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415098560