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.1074A>T (p.Leu358Phe)	PAH	Likely pathogenic	12	103237549	103237549	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.523C>T (p.Pro175Ser)	PAH	Likely pathogenic	12	103249097	103249097	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.510-2A>G	PAH	Pathogenic	12	103249112	103249112	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.441+1G>C	PAH	Pathogenic	12	103271239	103271239	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.301G>A (p.Asp101Asn)	PAH	Likely pathogenic	12	103288564	103288564	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.169-2A>G	PAH	Pathogenic	12	103288698	103288698	T	C	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.913-2A>C	PAH	Pathogenic/Likely pathogenic	12	103240731	103240731	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	PAH	Pathogenic/Likely pathogenic	12	103245467	103245467	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000277.3(PAH):c.610dup (p.Tyr204fs)	PAH	Pathogenic/Likely pathogenic	12	103249009	103249010	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000277.3(PAH):c.443G>T (p.Gly148Val)	PAH	Likely pathogenic	12	103260440	103260440	C	A	reviewed by expert panel	-