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.473G>A (p.Arg158Gln)	PAH	Pathogenic	12	103260410	103260410	C	T	reviewed by expert panel	ClinGen:CA251530,UniProtKB:P00439#VAR_000901,OMIM:612349.0010
single nucleotide variant	NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	PAH	Pathogenic	12	103246708	103246708	G	A	reviewed by expert panel	ClinGen:CA220585,OMIM:612349.0011
single nucleotide variant	NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	PAH	Likely pathogenic	12	103246593	103246593	G	A	reviewed by expert panel	ClinGen:CA220589,UniProtKB:P00439#VAR_000981,OMIM:612349.0012
single nucleotide variant	NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)	PAH	Pathogenic	12	103249009	103249009	T	C	reviewed by expert panel	ClinGen:CA229653,UniProtKB:P00439#VAR_000924,OMIM:612349.0013
single nucleotide variant	NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	PAH	Pathogenic/Likely pathogenic	12	103246707	103246707	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251531,UniProtKB:P00439#VAR_000947,OMIM:612349.0014
single nucleotide variant	NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	PAH	Pathogenic	12	103234255	103234255	C	G	reviewed by expert panel	ClinGen:CA229414,UniProtKB:P00439#VAR_001036,OMIM:612349.0016
single nucleotide variant	NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	PAH	Pathogenic	12	103234252	103234252	T	C	reviewed by expert panel	ClinGen:CA114362,UniProtKB:P00439#VAR_001038,OMIM:612349.0017
single nucleotide variant	NM_000277.3(PAH):c.442-1G>A	PAH	Pathogenic	12	103260442	103260442	C	T	reviewed by expert panel	ClinGen:CA229550,OMIM:612349.0018
single nucleotide variant	NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	PAH	Pathogenic	12	103237555	103237555	G	C	reviewed by expert panel	ClinGen:CA229327,OMIM:612349.0019
single nucleotide variant	NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	PAH	Pathogenic	12	103246621	103246621	C	A	reviewed by expert panel	ClinGen:CA251532,OMIM:612349.0020