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.929C>T (p.Ser310Phe)	PAH	Pathogenic/Likely pathogenic	12	103240713	103240713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229855,UniProtKB:P00439#VAR_000995
Deletion	NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)	PAH	Pathogenic	12	103240702	103240712	GGTGCACCCAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229856
single nucleotide variant	NM_000277.3(PAH):c.935G>A (p.Gly312Asp)	PAH	Likely pathogenic	12	103240707	103240707	C	T	reviewed by expert panel	ClinGen:CA229857
single nucleotide variant	NM_000277.3(PAH):c.938C>T (p.Ala313Val)	PAH	Pathogenic	12	103240704	103240704	G	A	reviewed by expert panel	ClinGen:CA229861
single nucleotide variant	NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	PAH	Pathogenic/Likely pathogenic	12	103240702	103240702	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229863
single nucleotide variant	NM_000277.3(PAH):c.940C>T (p.Pro314Ser)	PAH	Pathogenic	12	103240702	103240702	G	A	reviewed by expert panel	ClinGen:CA229865,UniProtKB:P00439#VAR_068006
Deletion	NM_000277.3(PAH):c.941del (p.Pro314fs)	PAH	Pathogenic	12	103240701	103240701	AG	A	reviewed by expert panel	ClinGen:CA229866
single nucleotide variant	NM_000277.3(PAH):c.941C>A (p.Pro314His)	PAH	Pathogenic/Likely pathogenic	12	103240701	103240701	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229867,UniProtKB:P00439#VAR_000997
single nucleotide variant	NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	PAH	Pathogenic	12	103240682	103240682	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229871
single nucleotide variant	NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	PAH	Pathogenic/Likely pathogenic	12	103240678	103240678	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229875,UniProtKB:P00439#VAR_000999