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.1012G>T (p.Asp338Tyr)	PAH	Pathogenic	12	103238167	103238167	C	A	reviewed by expert panel	ClinGen:CA229269,UniProtKB:P00439#VAR_001004
single nucleotide variant	NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)	PAH	Pathogenic	12	103238158	103238158	T	A	reviewed by expert panel	ClinGen:CA229272
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.1024G>C (p.Ala342Pro)	PAH	Pathogenic	12	103238155	103238155	C	G	criteria provided, single submitter	ClinGen:CA229277
Deletion	NM_000277.3(PAH):c.1024del (p.Ala342fs)	PAH	Pathogenic	12	103238155	103238155	GC	G	reviewed by expert panel	ClinGen:CA229279
single nucleotide variant	NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)	PAH	Likely pathogenic	12	103238152	103238152	A	C	reviewed by expert panel	ClinGen:CA229280
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.1030G>A (p.Gly344Ser)	PAH	Likely pathogenic	12	103238149	103238149	C	T	reviewed by expert panel	ClinGen:CA229285
single nucleotide variant	NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	PAH	Likely pathogenic	12	103238148	103238148	C	T	reviewed by expert panel	ClinGen:CA229288
single nucleotide variant	NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	PAH	Likely pathogenic	12	103238146	103238146	C	T	reviewed by expert panel	ClinGen:CA229291,UniProtKB:P00439#VAR_001010