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
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
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
single nucleotide variant	NM_000277.3(PAH):c.1316-1G>A	PAH	Pathogenic	12	103232997	103232997	C	T	reviewed by expert panel	-
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.1315+4A>G	PAH	Likely pathogenic	12	103234174	103234174	T	C	reviewed by expert panel	ClinGen:CA229430
Deletion	NM_000277.3(PAH):c.1314_1315+4del	PAH	Pathogenic	12	103234174	103234179	CTTACTG	C	reviewed by expert panel	-
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+1G>A	PAH	Pathogenic	12	103234177	103234177	C	T	reviewed by expert panel	ClinGen:CA251522,OMIM:612349.0001
single nucleotide variant	NM_000277.3(PAH):c.1315+1G>T	PAH	Likely pathogenic	12	103234177	103234177	C	A	reviewed by expert panel	ClinGen:CA16020993
single nucleotide variant	NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	PAH	Likely pathogenic	12	103234189	103234189	T	A	reviewed by expert panel	-