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.60+1G>C	PAH	Likely pathogenic	12	103310848	103310848	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.60+5G>T	PAH	Pathogenic	12	103310844	103310844	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274903
single nucleotide variant	NM_000277.3(PAH):c.110T>C (p.Leu37Pro)	PAH	Likely pathogenic	12	103306627	103306627	A	G	reviewed by expert panel	ClinGen:CA357242
Duplication	NM_000277.3(PAH):c.111dup (p.Ile38fs)	PAH	Pathogenic	12	103306625	103306626	T	TC	reviewed by expert panel	ClinGen:CA229354
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.121C>T (p.Leu41Phe)	PAH	Pathogenic	12	103306616	103306616	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_000873,ClinGen:CA229401
Deletion	NM_000277.3(PAH):c.124_126del (p.Lys42del)	PAH	Likely pathogenic	12	103306611	103306613	CTTT	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.125A>T (p.Lys42Ile)	PAH	Likely pathogenic	12	103306612	103306612	T	A	reviewed by expert panel	ClinGen:CA229419,UniProtKB:P00439#VAR_000874
single nucleotide variant	NM_000277.3(PAH):c.127G>T (p.Glu43Ter)	PAH	Pathogenic	12	103306610	103306610	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.136G>C (p.Gly46Arg)	PAH	Likely pathogenic	12	103306601	103306601	C	G	reviewed by expert panel	-