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.1157A>G (p.Tyr386Cys)	PAH	Pathogenic	12	103237466	103237466	T	C	reviewed by expert panel	ClinGen:CA274152,UniProtKB:P00439#VAR_001023
single nucleotide variant	NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	PAH	Likely pathogenic	12	103237464	103237464	A	G	reviewed by expert panel	ClinGen:CA229363,UniProtKB:P00439#VAR_001024
single nucleotide variant	NM_000277.3(PAH):c.1162G>C (p.Val388Leu)	PAH	Pathogenic	12	103237461	103237461	C	G	reviewed by expert panel	ClinGen:CA229366,UniProtKB:P00439#VAR_001025
Deletion	NM_000277.3(PAH):c.1163_1164del (p.Val388fs)	PAH	Pathogenic	12	103237459	103237460	CCA	C	reviewed by expert panel	ClinGen:CA229367
Deletion	NM_000277.3(PAH):c.1166del (p.Ala389fs)	PAH	Pathogenic	12	103237457	103237457	TG	T	reviewed by expert panel	ClinGen:CA229368
single nucleotide variant	NM_000277.3(PAH):c.1180G>C (p.Asp394His)	PAH	Likely pathogenic	12	103237443	103237443	C	G	reviewed by expert panel	ClinGen:CA229371,UniProtKB:P00439#VAR_001029
single nucleotide variant	NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)	PAH	Likely pathogenic	12	103237442	103237442	T	G	reviewed by expert panel	ClinGen:CA229372,UniProtKB:P00439#VAR_001028
single nucleotide variant	NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)	PAH	Pathogenic	12	103237440	103237440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229373,UniProtKB:P00439#VAR_001031
single nucleotide variant	NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)	PAH	Likely pathogenic	12	103237439	103237439	G	T	reviewed by expert panel	ClinGen:CA229374
single nucleotide variant	NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	PAH	Pathogenic/Likely pathogenic	12	103237439	103237439	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286498,UniProtKB:P00439#VAR_001030