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.1097C>A (p.Pro366His)	PAH	Likely pathogenic	12	103237526	103237526	G	T	reviewed by expert panel	ClinGen:CA229341,UniProtKB:P00439#VAR_001019
Duplication	NM_000277.3(PAH):c.1099dup (p.Leu367fs)	PAH	Pathogenic	12	103237523	103237524	A	AG	reviewed by expert panel	ClinGen:CA229342
Deletion	NM_000277.3(PAH):c.1099del (p.Leu367fs)	PAH	Pathogenic	12	103237524	103237524	AG	A	reviewed by expert panel	ClinGen:CA229343
single nucleotide variant	NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	PAH	Likely pathogenic	12	103237509	103237509	T	A	reviewed by expert panel	ClinGen:CA229350,UniProtKB:P00439#VAR_001020
single nucleotide variant	NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)	PAH	Likely pathogenic	12	103237506	103237506	C	T	reviewed by expert panel	ClinGen:CA229351
Deletion	NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)	PAH	Pathogenic	12	103237505	103237506	GGC	G	reviewed by expert panel	ClinGen:CA229353
Duplication	NM_000277.3(PAH):c.111dup (p.Ile38fs)	PAH	Pathogenic	12	103306625	103306626	T	TC	reviewed by expert panel	ClinGen:CA229354
Deletion	NM_000277.3(PAH):c.1127del (p.Asn376fs)	PAH	Pathogenic	12	103237496	103237496	AT	A	criteria provided, single submitter	ClinGen:CA229355
single nucleotide variant	NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)	PAH	Likely pathogenic	12	103237493	103237493	T	C	reviewed by expert panel	ClinGen:CA229357,UniProtKB:P00439#VAR_001021
single nucleotide variant	NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)	PAH	Likely pathogenic	12	103237467	103237467	A	C	reviewed by expert panel	ClinGen:CA229361