アルカプトン尿症

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_000187.4(HGD):c.1188+1G>T	HGD	Pathogenic/Likely pathogenic	3	120351993	120351993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2559950
single nucleotide variant	NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	HGD	Pathogenic/Likely pathogenic	3	120347364	120347364	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2559930