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.386A>G (p.Asp129Gly)	PAH	Likely pathogenic	12	103271295	103271295	T	C	reviewed by expert panel	ClinGen:CA229527
Deletion	NM_000277.3(PAH):c.398_401del (p.Asn133fs)	PAH	Pathogenic	12	103271280	103271283	CTGAT	C	reviewed by expert panel	ClinGen:CA229531
single nucleotide variant	NM_000277.3(PAH):c.400C>T (p.Gln134Ter)	PAH	Pathogenic	12	103271281	103271281	G	A	reviewed by expert panel	ClinGen:CA229534
single nucleotide variant	NM_000277.3(PAH):c.428A>G (p.Asp143Gly)	PAH	Pathogenic	12	103271253	103271253	T	C	criteria provided, single submitter	ClinGen:CA229538,UniProtKB:P00439#VAR_000895
single nucleotide variant	NM_000277.3(PAH):c.434A>T (p.Asp145Val)	PAH	Likely pathogenic	12	103271247	103271247	T	A	reviewed by expert panel	ClinGen:CA229539,UniProtKB:P00439#VAR_011566
single nucleotide variant	NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	PAH	Likely pathogenic	12	103271242	103271242	G	A	reviewed by expert panel	ClinGen:CA229541
single nucleotide variant	NM_000277.3(PAH):c.440C>T (p.Pro147Leu)	PAH	Likely pathogenic	12	103271241	103271241	G	A	reviewed by expert panel	ClinGen:CA229543
single nucleotide variant	NM_000277.3(PAH):c.441+1G>A	PAH	Pathogenic	12	103271239	103271239	C	T	reviewed by expert panel	ClinGen:CA229545
single nucleotide variant	NM_000277.3(PAH):c.441+3G>C	PAH	Pathogenic	12	103271237	103271237	C	G	reviewed by expert panel	ClinGen:CA229546
single nucleotide variant	NM_000277.3(PAH):c.442-5C>G	PAH	Pathogenic/Likely pathogenic	12	103260446	103260446	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286504