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.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>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.199T>C (p.Ser67Pro)	PAH	Pathogenic	12	103288666	103288666	A	G	reviewed by expert panel	ClinGen:CA229481,UniProtKB:P00439#VAR_000884
single nucleotide variant	NM_000277.3(PAH):c.1A>T (p.Met1Leu)	PAH	Pathogenic	12	103310908	103310908	T	A	reviewed by expert panel	ClinGen:CA229482
single nucleotide variant	NM_000277.3(PAH):c.202A>G (p.Arg68Gly)	PAH	Pathogenic	12	103288663	103288663	T	C	reviewed by expert panel	ClinGen:CA229484
single nucleotide variant	NM_000277.3(PAH):c.205C>T (p.Pro69Ser)	PAH	Likely pathogenic	12	103288660	103288660	G	A	reviewed by expert panel	ClinGen:CA229486
single nucleotide variant	NM_000277.3(PAH):c.208T>C (p.Ser70Pro)	PAH	Likely pathogenic	12	103288657	103288657	A	G	reviewed by expert panel	ClinGen:CA229488