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.136G>A (p.Gly46Ser)	PAH	Pathogenic	12	103306601	103306601	C	T	reviewed by expert panel	ClinGen:CA229439,UniProtKB:P00439#VAR_000875,OMIM:612349.0055
Deletion	NM_000277.3(PAH):c.137del (p.Gly46fs)	PAH	Pathogenic	12	103306600	103306600	AC	A	reviewed by expert panel	ClinGen:CA229440
single nucleotide variant	NM_000277.3(PAH):c.140C>T (p.Ala47Val)	PAH	Likely pathogenic	12	103306597	103306597	G	A	reviewed by expert panel	OMIM:612349.0056,ClinGen:CA114370,UniProtKB:P00439#VAR_000876
single nucleotide variant	NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	PAH	Pathogenic	12	103306594	103306594	A	G	reviewed by expert panel	OMIM:612349.0034,ClinGen:CA251539,UniProtKB:P00439#VAR_000877
Deletion	NM_000277.3(PAH):c.155del (p.Leu52fs)	PAH	Pathogenic	12	103306582	103306582	CA	C	reviewed by expert panel	ClinGen:CA267691
single nucleotide variant	NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	PAH	Likely pathogenic	12	103306582	103306582	A	G	reviewed by expert panel	ClinGen:CA229443
single nucleotide variant	NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	PAH	Likely pathogenic	12	103306580	103306580	G	A	reviewed by expert panel	ClinGen:CA229445
single nucleotide variant	NM_000277.3(PAH):c.161T>C (p.Leu54Ser)	PAH	Likely pathogenic	12	103306576	103306576	A	G	reviewed by expert panel	ClinGen:CA229448
Deletion	NM_000277.3(PAH):c.163_165del (p.Phe55del)	PAH	Likely pathogenic	12	103306572	103306574	CAAA	C	reviewed by expert panel	ClinGen:CA229450
single nucleotide variant	NM_000277.3(PAH):c.164T>C (p.Phe55Ser)	PAH	Likely pathogenic	12	103306573	103306573	A	G	reviewed by expert panel	ClinGen:CA267639