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.1162G>A (p.Val388Met)	PAH	Pathogenic	12	103237461	103237461	C	T	reviewed by expert panel	ClinGen:CA251543,UniProtKB:P00439#VAR_001026,OMIM:612349.0045
Deletion	NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)	PAH	Likely pathogenic	12	103237517	103237531	CAGCTCCAGGGGGAGA	C	reviewed by expert panel	ClinGen:CA229339,OMIM:612349.0046
single nucleotide variant	NM_000277.3(PAH):c.731C>T (p.Pro244Leu)	PAH	Likely pathogenic	12	103246704	103246704	G	A	reviewed by expert panel	UniProtKB:P00439#VAR_000948,OMIM:612349.0047,ClinGen:CA229721
single nucleotide variant	NM_000277.3(PAH):c.3G>A (p.Met1Ile)	PAH	Pathogenic	12	103310906	103310906	C	T	reviewed by expert panel	ClinGen:CA229532,OMIM:612349.0048
single nucleotide variant	NM_000277.3(PAH):c.1066-3C>T	PAH	Pathogenic/Likely pathogenic	12	103237560	103237560	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229324,OMIM:612349.0049
single nucleotide variant	NM_000277.3(PAH):c.997C>T (p.Leu333Phe)	PAH	Pathogenic	12	103238182	103238182	G	A	reviewed by expert panel	ClinGen:CA114366,UniProtKB:P00439#VAR_001001,OMIM:612349.0050
single nucleotide variant	NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	PAH	Pathogenic	12	103237454	103237454	T	C	reviewed by expert panel	ClinGen:CA114367,UniProtKB:P00439#VAR_001027,OMIM:612349.0051
single nucleotide variant	NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)	PAH	Pathogenic	12	103237547	103237547	G	C	reviewed by expert panel	ClinGen:CA229330,OMIM:612349.0052
single nucleotide variant	NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	PAH	Likely pathogenic	12	103288572	103288572	A	G	reviewed by expert panel	ClinGen:CA114368,UniProtKB:P00439#VAR_000891,OMIM:612349.0053
single nucleotide variant	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH	Pathogenic	12	103237484	103237484	G	A	reviewed by expert panel	ClinGen:CA114369,UniProtKB:P00439#VAR_001022,OMIM:612349.0054