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.1180G>T (p.Asp394Tyr)	PAH	Likely pathogenic	12	103237443	103237443	C	A	reviewed by expert panel	ClinGen:CA267632
single nucleotide variant	NM_000277.3(PAH):c.1196T>C (p.Val399Ala)	PAH	Likely pathogenic	12	103237427	103237427	A	G	reviewed by expert panel	ClinGen:CA267634
single nucleotide variant	NM_000277.3(PAH):c.164T>C (p.Phe55Ser)	PAH	Likely pathogenic	12	103306573	103306573	A	G	reviewed by expert panel	ClinGen:CA267639
single nucleotide variant	NM_000277.3(PAH):c.169G>T (p.Glu57Ter)	PAH	Pathogenic	12	103288696	103288696	C	A	reviewed by expert panel	ClinGen:CA267642
single nucleotide variant	NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	PAH	Pathogenic/Likely pathogenic	12	103288682	103288682	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267644
single nucleotide variant	NM_000277.3(PAH):c.196G>T (p.Glu66Ter)	PAH	Pathogenic	12	103288669	103288669	C	A	reviewed by expert panel	ClinGen:CA267645
Deletion	NM_000277.3(PAH):c.350del (p.Thr117fs)	PAH	Pathogenic	12	103288515	103288515	TG	T	reviewed by expert panel	ClinGen:CA267653
single nucleotide variant	NM_000277.3(PAH):c.441+6T>A	PAH	Likely pathogenic	12	103271234	103271234	A	T	reviewed by expert panel	ClinGen:CA267654
single nucleotide variant	NM_000277.3(PAH):c.442-2A>C	PAH	Pathogenic	12	103260443	103260443	T	G	reviewed by expert panel	ClinGen:CA267655
single nucleotide variant	NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)	PAH	Pathogenic	12	103260379	103260379	G	T	reviewed by expert panel	ClinGen:CA267656