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.1092_1094del (p.Leu365del)	PAH	Likely pathogenic	12	103237529	103237531	GAGA	G	reviewed by expert panel	ClinGen:CA229337,OMIM:612349.0021
single nucleotide variant	NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	PAH	Likely pathogenic	12	103246617	103246617	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_000973,OMIM:612349.0023,ClinGen:CA229785
single nucleotide variant	NM_000277.3(PAH):c.842+1G>A	PAH	Pathogenic	12	103246592	103246592	C	T	reviewed by expert panel	ClinGen:CA229811,OMIM:612349.0025
single nucleotide variant	NM_000277.3(PAH):c.764T>C (p.Leu255Ser)	PAH	Pathogenic/Likely pathogenic	12	103246671	103246671	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229747,UniProtKB:P00439#VAR_000960,OMIM:612349.0026
single nucleotide variant	NM_000277.3(PAH):c.1197A>T (p.Val399=)	PAH	Pathogenic	12	103237426	103237426	T	A	reviewed by expert panel	ClinGen:CA229379,OMIM:612349.0027
single nucleotide variant	NM_000277.3(PAH):c.776C>T (p.Ala259Val)	PAH	Pathogenic/Likely pathogenic	12	103246659	103246659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229756,UniProtKB:P00439#VAR_000963,OMIM:612349.0028
single nucleotide variant	NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)	PAH	Pathogenic	12	103246606	103246606	A	C	reviewed by expert panel	ClinGen:CA251534,UniProtKB:P00439#VAR_000977,OMIM:612349.0029
single nucleotide variant	NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	PAH	Pathogenic	12	103306620	103306620	G	C	reviewed by expert panel	UniProtKB:P00439#VAR_000870,OMIM:612349.0031,ClinGen:CA251537
single nucleotide variant	NM_000277.3(PAH):c.1066-11G>A	PAH	Pathogenic	12	103237568	103237568	C	T	reviewed by expert panel	ClinGen:CA251538,OMIM:612349.0033
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