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
Indel	NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)	PAH	Likely pathogenic	12	103249072	103249073	TC	AA	reviewed by expert panel	ClinGen:CA267658
single nucleotide variant	NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	PAH	Likely pathogenic	12	103249029	103249029	C	G	reviewed by expert panel	ClinGen:CA267662
single nucleotide variant	NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	PAH	Pathogenic/Likely pathogenic	12	103248988	103248988	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267667
single nucleotide variant	NM_000277.3(PAH):c.785T>G (p.Val262Gly)	PAH	Likely pathogenic	12	103246650	103246650	A	C	reviewed by expert panel	ClinGen:CA267671
single nucleotide variant	NM_000277.3(PAH):c.796A>C (p.Thr266Pro)	PAH	Likely pathogenic	12	103246639	103246639	T	G	reviewed by expert panel	ClinGen:CA267673
Deletion	NM_000277.3(PAH):c.837del (p.Glu280fs)	PAH	Pathogenic	12	103246598	103246598	CG	C	reviewed by expert panel	ClinGen:CA267677
single nucleotide variant	NM_000277.3(PAH):c.912+2T>C	PAH	Pathogenic	12	103245463	103245463	A	G	reviewed by expert panel	ClinGen:CA267684
Deletion	NM_000277.3(PAH):c.916del (p.Ile306fs)	PAH	Pathogenic	12	103240726	103240726	AT	A	reviewed by expert panel	ClinGen:CA267688
single nucleotide variant	NM_000277.3(PAH):c.970-1G>A	PAH	Likely pathogenic	12	103238210	103238210	C	T	reviewed by expert panel	ClinGen:CA267690
Deletion	NM_000277.3(PAH):c.155del (p.Leu52fs)	PAH	Pathogenic	12	103306582	103306582	CA	C	reviewed by expert panel	ClinGen:CA267691