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.1054G>T (p.Gly352Cys)	PAH	Pathogenic/Likely pathogenic	12	103238125	103238125	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229309
single nucleotide variant	NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)	PAH	Pathogenic/Likely pathogenic	12	103238151	103238151	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA229282,UniProtKB:P00439#VAR_001008
single nucleotide variant	NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)	PAH	Pathogenic/Likely pathogenic	12	103238155	103238155	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229276,UniProtKB:P00439#VAR_001007
single nucleotide variant	NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	PAH	Pathogenic/Likely pathogenic	12	103306572	103306572	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273114,UniProtKB:P00439#VAR_000879
single nucleotide variant	NM_000277.3(PAH):c.227A>G (p.Glu76Gly)	PAH	Pathogenic/Likely pathogenic	12	103288638	103288638	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA114373,UniProtKB:P00439#VAR_067999,OMIM:612349.0067
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.1045T>C (p.Ser349Pro)	PAH	Pathogenic/Likely pathogenic	12	103238134	103238134	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251542,UniProtKB:P00439#VAR_001014,OMIM:612349.0032,OMIM:612349.0041
single nucleotide variant	NM_000277.3(PAH):c.776C>T (p.Ala259Val)	PAH	Pathogenic/Likely pathogenic	12	103246659	103246659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA229756,UniProtKB:P00439#VAR_000963,OMIM:612349.0028
single nucleotide variant	NM_000277.3(PAH):c.764T>C (p.Leu255Ser)	PAH	Pathogenic/Likely pathogenic	12	103246671	103246671	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229747,UniProtKB:P00439#VAR_000960,OMIM:612349.0026
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