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.968_970del (p.Thr323del)	PAH	Pathogenic	12	103240673	103240675	CTGT	C	reviewed by expert panel	ClinGen:CA229876
single nucleotide variant	NM_000277.3(PAH):c.969+1G>A	PAH	Likely pathogenic	12	103240672	103240672	C	T	reviewed by expert panel	ClinGen:CA229878
single nucleotide variant	NM_000277.3(PAH):c.969+5G>A	PAH	Pathogenic	12	103240668	103240668	C	T	reviewed by expert panel	ClinGen:CA229879
single nucleotide variant	NM_000277.3(PAH):c.970-2A>C	PAH	Likely pathogenic	12	103238211	103238211	T	G	reviewed by expert panel	ClinGen:CA229882
single nucleotide variant	NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)	PAH	Pathogenic	12	103238204	103238204	G	C	reviewed by expert panel	ClinGen:CA229885
single nucleotide variant	NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	PAH	Likely pathogenic	12	103238197	103238197	T	C	reviewed by expert panel	ClinGen:CA229891
single nucleotide variant	NM_000277.3(PAH):c.990G>C (p.Glu330Asp)	PAH	Likely pathogenic	12	103238189	103238189	C	G	criteria provided, single submitter	ClinGen:CA229893,UniProtKB:P00439#VAR_009246
single nucleotide variant	NM_000277.3(PAH):c.992T>G (p.Phe331Cys)	PAH	Pathogenic	12	103238187	103238187	A	C	criteria provided, single submitter	ClinGen:CA229895
single nucleotide variant	NM_000277.3(PAH):c.1066-2A>T	PAH	Pathogenic	12	103237559	103237559	T	A	reviewed by expert panel	ClinGen:CA267625
single nucleotide variant	NM_000277.3(PAH):c.1163T>C (p.Val388Ala)	PAH	Likely pathogenic	12	103237460	103237460	A	G	reviewed by expert panel	ClinGen:CA267628