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.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.1262T>C (p.Ile421Thr)	PAH	Likely pathogenic	12	103234231	103234231	A	G	reviewed by expert panel	ClinGen:CA229420
single nucleotide variant	NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)	PAH	Likely pathogenic	12	103234204	103234204	A	G	reviewed by expert panel	ClinGen:CA229426,UniProtKB:P00439#VAR_001041
single nucleotide variant	NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	PAH	Pathogenic/Likely pathogenic	12	103234192	103234192	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229427
single nucleotide variant	NM_000277.3(PAH):c.1315+2T>C	PAH	Likely pathogenic	12	103234176	103234176	A	G	reviewed by expert panel	ClinGen:CA229429
single nucleotide variant	NM_000277.3(PAH):c.1315+4A>G	PAH	Likely pathogenic	12	103234174	103234174	T	C	reviewed by expert panel	ClinGen:CA229430
single nucleotide variant	NM_000277.3(PAH):c.1315+6T>A	PAH	Pathogenic	12	103234172	103234172	A	T	reviewed by expert panel	ClinGen:CA229431
single nucleotide variant	NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)	PAH	Pathogenic	12	103232972	103232972	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229437,UniProtKB:P00439#VAR_001042
Duplication	NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)	PAH	Pathogenic/Likely pathogenic	12	103232956	103232957	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA229438
Deletion	NM_000277.3(PAH):c.137del (p.Gly46fs)	PAH	Pathogenic	12	103306600	103306600	AC	A	reviewed by expert panel	ClinGen:CA229440