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
single nucleotide variant	NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	PAH	Pathogenic	12	103238137	103238137	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220576,UniProtKB:P00439#VAR_001012
single nucleotide variant	NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)	PAH	Pathogenic	12	103237555	103237555	G	T	reviewed by expert panel	ClinGen:CA273107
single nucleotide variant	NM_000277.3(PAH):c.1200-1G>A	PAH	Pathogenic	12	103234294	103234294	C	T	reviewed by expert panel	ClinGen:CA220577
single nucleotide variant	NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	PAH	Pathogenic	12	103234285	103234285	G	A	reviewed by expert panel	ClinGen:CA273106,UniProtKB:P00439#VAR_001033
single nucleotide variant	NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	PAH	Pathogenic/Likely pathogenic	12	103306572	103306572	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273114,UniProtKB:P00439#VAR_000879
single nucleotide variant	NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	PAH	Pathogenic	12	103288661	103288661	T	A	reviewed by expert panel	ClinGen:CA273113,UniProtKB:P00439#VAR_000885
single nucleotide variant	NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	PAH	Likely pathogenic	12	103271326	103271326	G	A	reviewed by expert panel	ClinGen:CA220582
single nucleotide variant	NM_000277.3(PAH):c.441+5G>T	PAH	Pathogenic	12	103271235	103271235	C	A	reviewed by expert panel	ClinGen:CA273112
single nucleotide variant	NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	PAH	Likely pathogenic	12	103260383	103260383	T	A	reviewed by expert panel	ClinGen:CA220584,UniProtKB:P00439#VAR_000906
single nucleotide variant	NM_000277.3(PAH):c.508C>G (p.His170Asp)	PAH	Pathogenic	12	103260375	103260375	G	C	reviewed by expert panel	ClinGen:CA273111,UniProtKB:P00439#VAR_011569