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.1194A>G (p.Lys398=)	PAH	Likely pathogenic	12	103237429	103237429	T	C	reviewed by expert panel	ClinGen:CA229376
Deletion	NM_000277.3(PAH):c.1196_1199del (p.Val399fs)	PAH	Likely pathogenic	12	103237424	103237427	CCTTA	C	reviewed by expert panel	ClinGen:CA229378
Deletion	NM_000277.3(PAH):c.1198del (p.Arg400fs)	PAH	Pathogenic	12	103237425	103237425	CT	C	reviewed by expert panel	ClinGen:CA229383
single nucleotide variant	NM_000277.3(PAH):c.1199+17G>A	PAH	Pathogenic/Likely pathogenic	12	103237407	103237407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA229384
single nucleotide variant	NM_000277.3(PAH):c.1199+1G>A	PAH	Pathogenic	12	103237423	103237423	C	T	reviewed by expert panel	ClinGen:CA229385
single nucleotide variant	NM_000277.3(PAH):c.1199+1G>C	PAH	Pathogenic	12	103237423	103237423	C	G	reviewed by expert panel	ClinGen:CA274088
single nucleotide variant	NM_000277.3(PAH):c.1199+20G>C	PAH	Pathogenic	12	103237404	103237404	C	G	criteria provided, single submitter	ClinGen:CA229386
single nucleotide variant	NM_000277.3(PAH):c.1199+5G>T	PAH	Likely pathogenic	12	103237419	103237419	C	A	reviewed by expert panel	ClinGen:CA229388
single nucleotide variant	NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)	PAH	Likely pathogenic	12	103237424	103237424	C	T	criteria provided, single submitter	ClinGen:CA229389
single nucleotide variant	NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)	PAH	Pathogenic	12	103237424	103237424	C	G	reviewed by expert panel	ClinGen:CA229391