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.662A>G (p.Glu221Gly)	PAH	Likely pathogenic	12	103248958	103248958	T	C	reviewed by expert panel	ClinGen:CA229677,UniProtKB:P00439#VAR_000933,OMIM:612349.0035
single nucleotide variant	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH	Pathogenic	12	103246654	103246654	G	A	reviewed by expert panel	ClinGen:CA229757,OMIM:612349.0036
Deletion	NM_000277.3(PAH):c.165del (p.Phe55fs)	PAH	Pathogenic	12	103306572	103306572	CA	C	reviewed by expert panel	ClinGen:CA251540,OMIM:612349.0037
single nucleotide variant	NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	PAH	Pathogenic	12	103234270	103234270	C	T	reviewed by expert panel	UniProtKB:P00439#VAR_001034,OMIM:612349.0038,ClinGen:CA229404
single nucleotide variant	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	PAH	Pathogenic	12	103245481	103245481	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA251541,UniProtKB:P00439#VAR_000987,OMIM:612349.0039
single nucleotide variant	NM_000277.3(PAH):c.842+2T>A	PAH	Pathogenic	12	103246591	103246591	A	T	reviewed by expert panel	ClinGen:CA229813,OMIM:612349.0040
single nucleotide variant	NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	PAH	Pathogenic/Likely pathogenic	12	103238134	103238134	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251542,UniProtKB:P00439#VAR_001014,OMIM:612349.0032,OMIM:612349.0041
single nucleotide variant	NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	PAH	Likely pathogenic	12	103240677	103240677	G	C	reviewed by expert panel	ClinGen:CA114363,UniProtKB:P00439#VAR_000998,OMIM:612349.0042
single nucleotide variant	NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	PAH	Pathogenic	12	103234250	103234250	C	T	reviewed by expert panel	OMIM:612349.0043,ClinGen:CA114364,UniProtKB:P00439#VAR_001039
single nucleotide variant	NM_000277.3(PAH):c.916A>G (p.Ile306Val)	PAH	Pathogenic	12	103240726	103240726	T	C	reviewed by expert panel	ClinGen:CA114365,UniProtKB:P00439#VAR_000992,OMIM:612349.0044