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.842C>T (p.Pro281Leu)	PAH	Likely pathogenic	12	103246593	103246593	G	A	reviewed by expert panel	ClinGen:CA220589,UniProtKB:P00439#VAR_000981,OMIM:612349.0012
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.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.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
Deletion	NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)	PAH	Likely pathogenic	12	103237517	103237531	CAGCTCCAGGGGGAGA	C	reviewed by expert panel	ClinGen:CA229339,OMIM:612349.0046
single nucleotide variant	NM_000277.3(PAH):c.731C>T (p.Pro244Leu)	PAH	Likely pathogenic	12	103246704	103246704	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_000948,OMIM:612349.0047,ClinGen:CA229721
single nucleotide variant	NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	PAH	Likely pathogenic	12	103288572	103288572	A	G	reviewed by expert panel	ClinGen:CA114368,UniProtKB:P00439#VAR_000891,OMIM:612349.0053
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.1065+3A>G	PAH	Likely pathogenic	12	103238111	103238111	T	C	reviewed by expert panel	ClinGen:CA212751,OMIM:612349.0060