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.442G>A (p.Gly148Ser)	PAH	Likely pathogenic	12	103260441	103260441	C	T	reviewed by expert panel	ClinGen:CA229551,UniProtKB:P00439#VAR_000897
Deletion	NM_000277.3(PAH):c.443_509+1del	PAH	Pathogenic	12	103260373	103260440	ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC	A	reviewed by expert panel	ClinGen:CA229552
single nucleotide variant	NM_000277.3(PAH):c.460T>C (p.Tyr154His)	PAH	Likely pathogenic	12	103260423	103260423	A	G	reviewed by expert panel	ClinGen:CA229557
single nucleotide variant	NM_000277.3(PAH):c.464G>A (p.Arg155His)	PAH	Pathogenic	12	103260419	103260419	C	T	reviewed by expert panel	ClinGen:CA229559
single nucleotide variant	NM_000277.3(PAH):c.464G>C (p.Arg155Pro)	PAH	Likely pathogenic	12	103260419	103260419	C	G	reviewed by expert panel	ClinGen:CA229561,UniProtKB:P00439#VAR_009242
single nucleotide variant	NM_000277.3(PAH):c.470G>T (p.Arg157Ile)	PAH	Likely pathogenic	12	103260413	103260413	C	A	criteria provided, single submitter	ClinGen:CA229567
single nucleotide variant	NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	PAH	Pathogenic	12	103260411	103260411	G	A	reviewed by expert panel	ClinGen:CA229570,UniProtKB:P00439#VAR_000902
single nucleotide variant	NM_000277.3(PAH):c.482T>C (p.Phe161Ser)	PAH	Pathogenic/Likely pathogenic	12	103260401	103260401	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229575,UniProtKB:P00439#VAR_000904
single nucleotide variant	NM_000277.3(PAH):c.490A>G (p.Ile164Val)	PAH	Likely pathogenic	12	103260393	103260393	T	C	reviewed by expert panel	ClinGen:CA229576
single nucleotide variant	NM_000277.3(PAH):c.491T>C (p.Ile164Thr)	PAH	Pathogenic	12	103260392	103260392	A	G	criteria provided, single submitter	ClinGen:CA229578,UniProtKB:P00439#VAR_000905