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_000277.2(PAH):c.169_171delGAG	PAH	Likely pathogenic	12	103288694	103288696	TCTC	T	reviewed by expert panel	ClinGen:CA229461
single nucleotide variant	NM_000277.3(PAH):c.181A>G (p.Asn61Asp)	PAH	Pathogenic	12	103288684	103288684	T	C	criteria provided, single submitter	ClinGen:CA229470,UniProtKB:P00439#VAR_067995
single nucleotide variant	NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	PAH	Pathogenic/Likely pathogenic	12	103288682	103288682	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267644
single nucleotide variant	NM_000277.3(PAH):c.183C>G (p.Asn61Lys)	PAH	Likely pathogenic	12	103288682	103288682	G	C	reviewed by expert panel	ClinGen:CA229471
Deletion	NM_000277.3(PAH):c.190del (p.His64fs)	PAH	Pathogenic	12	103288675	103288675	TG	T	reviewed by expert panel	ClinGen:CA229477
single nucleotide variant	NM_000277.3(PAH):c.193A>G (p.Ile65Val)	PAH	Pathogenic	12	103288672	103288672	T	C	reviewed by expert panel	ClinGen:CA229478,UniProtKB:P00439#VAR_067998
single nucleotide variant	NM_000277.3(PAH):c.194T>A (p.Ile65Asn)	PAH	Likely pathogenic	12	103288671	103288671	A	T	reviewed by expert panel	ClinGen:CA229479,UniProtKB:P00439#VAR_000882
single nucleotide variant	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH	Pathogenic	12	103288671	103288671	A	G	reviewed by expert panel	ClinGen:CA251544,UniProtKB:P00439#VAR_000883,OMIM:612349.0063
single nucleotide variant	NM_000277.3(PAH):c.196G>T (p.Glu66Ter)	PAH	Pathogenic	12	103288669	103288669	C	A	reviewed by expert panel	ClinGen:CA267645
single nucleotide variant	NM_000277.3(PAH):c.199T>C (p.Ser67Pro)	PAH	Pathogenic	12	103288666	103288666	A	G	reviewed by expert panel	ClinGen:CA229481,UniProtKB:P00439#VAR_000884