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.870T>G (p.His290Gln)	PAH	Likely pathogenic	12	103245507	103245507	A	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.668A>T (p.Asn223Ile)	PAH	Likely pathogenic	12	103248952	103248952	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.505C>G (p.Arg169Gly)	PAH	Pathogenic	12	103260378	103260378	G	C	reviewed by expert panel	-
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.60+1G>C	PAH	Likely pathogenic	12	103310848	103310848	C	G	criteria provided, single submitter	-
Duplication	NM_000277.3(PAH):c.686dup (p.Asp229fs)	PAH	Pathogenic	12	103248933	103248934	G	GT	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.1153del (p.Leu385fs)	PAH	Pathogenic	12	103237470	103237470	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.3G>C (p.Met1Ile)	PAH	Likely pathogenic	12	103310906	103310906	C	G	reviewed by expert panel	-
Indel	NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn)	PAH	Pathogenic	12	103260412	103260413	TC	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.970-1G>C	PAH	Likely pathogenic	12	103238210	103238210	C	G	reviewed by expert panel	-