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.493G>A (p.Ala165Thr)	PAH	Likely pathogenic	12	103260390	103260390	C	T	reviewed by expert panel	ClinGen:CA229579
single nucleotide variant	NM_000277.3(PAH):c.498C>A (p.Tyr166Ter)	PAH	Pathogenic	12	103260385	103260385	G	T	reviewed by expert panel	ClinGen:CA229583
Deletion	NM_000277.3(PAH):c.503del (p.Tyr168fs)	PAH	Pathogenic	12	103260380	103260380	GT	G	reviewed by expert panel	ClinGen:CA229588
single nucleotide variant	NM_000277.3(PAH):c.506G>A (p.Arg169His)	PAH	Likely pathogenic	12	103260377	103260377	C	T	reviewed by expert panel	ClinGen:CA286505,UniProtKB:P00439#VAR_011568
single nucleotide variant	NM_000277.3(PAH):c.509+1G>A	PAH	Pathogenic	12	103260373	103260373	C	T	reviewed by expert panel	ClinGen:CA229589
single nucleotide variant	NM_000277.3(PAH):c.510T>A (p.His170Gln)	PAH	Pathogenic	12	103249110	103249110	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229597
single nucleotide variant	NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	PAH	Likely pathogenic	12	103249109	103249109	C	T	reviewed by expert panel	ClinGen:CA229598,UniProtKB:P00439#VAR_000909
single nucleotide variant	NM_000277.3(PAH):c.514C>T (p.Gln172Ter)	PAH	Pathogenic	12	103249106	103249106	G	A	reviewed by expert panel	ClinGen:CA229600
single nucleotide variant	NM_000277.3(PAH):c.520A>G (p.Ile174Val)	PAH	Likely pathogenic	12	103249100	103249100	T	C	reviewed by expert panel	ClinGen:CA229603,UniProtKB:P00439#VAR_011570
single nucleotide variant	NM_000277.3(PAH):c.521T>C (p.Ile174Thr)	PAH	Pathogenic	12	103249099	103249099	A	G	reviewed by expert panel	ClinGen:CA229604,UniProtKB:P00439#VAR_000911