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.559T>C (p.Trp187Arg)	PAH	Likely pathogenic	12	103249061	103249061	A	G	reviewed by expert panel	ClinGen:CA229622
single nucleotide variant	NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	PAH	Pathogenic	12	103249059	103249059	C	T	reviewed by expert panel	ClinGen:CA229624
single nucleotide variant	NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	PAH	Likely pathogenic	12	103249059	103249059	C	G	reviewed by expert panel	ClinGen:CA229626
single nucleotide variant	NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	PAH	Likely pathogenic	12	103249057	103249057	C	T	reviewed by expert panel	ClinGen:CA229628
Deletion	NM_000277.3(PAH):c.563del (p.Gly188fs)	PAH	Pathogenic	12	103249057	103249057	GC	G	criteria provided, single submitter	ClinGen:CA229630
single nucleotide variant	NM_000277.3(PAH):c.569T>C (p.Val190Ala)	PAH	Pathogenic	12	103249051	103249051	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229631,UniProtKB:P00439#VAR_000917
single nucleotide variant	NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	PAH	Likely pathogenic	12	103249039	103249039	A	G	reviewed by expert panel	ClinGen:CA229633,UniProtKB:P00439#VAR_000918
Deletion	NM_000277.3(PAH):c.586_608del (p.Ser196fs)	PAH	Pathogenic	12	103249012	103249034	GCAAGCATGGGTTTTATACAAGGA	G	reviewed by expert panel	ClinGen:CA229634
single nucleotide variant	NM_000277.3(PAH):c.58C>T (p.Gln20Ter)	PAH	Pathogenic	12	103310851	103310851	G	A	reviewed by expert panel	ClinGen:CA229635
Deletion	NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	PAH	Pathogenic	12	103249007	103249028	TCATAGCAAGCATGGGTTTTATA	T	reviewed by expert panel	ClinGen:CA229638