フェニルケトン尿症

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_000277.3(PAH):c.124_126del (p.Lys42del)	PAH	Likely pathogenic	12	103306611	103306613	CTTT	C	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.1314_1315+4del	PAH	Pathogenic	12	103234174	103234179	CTTACTG	C	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)	PAH	Likely pathogenic	12	103234199	103234200	ATC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.1199+2T>G	PAH	Likely pathogenic	12	103237422	103237422	A	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.800A>G (p.Gln267Arg)	PAH	Pathogenic	12	103246635	103246635	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.689T>C (p.Val230Ala)	PAH	Likely pathogenic	12	103248931	103248931	A	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	PAH	Pathogenic	12	103249002	103249002	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	PAH	Likely pathogenic	12	103260420	103260420	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	PAH	Pathogenic	12	103234237	103234237	T	C	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.1180del (p.Asp394fs)	PAH	Likely pathogenic	12	103237443	103237443	TC	T	criteria provided, single submitter	-