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.899T>G (p.Val300Gly)	HGD	Pathogenic/Likely pathogenic	3	120357409	120357409	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340043,UniProtKB:Q93099#VAR_005286,OMIM:607474.0002
single nucleotide variant	NM_000187.4(HGD):c.688C>T (p.Pro230Ser)	HGD	Pathogenic	3	120363252	120363252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340042,UniProtKB:Q93099#VAR_005283,OMIM:607474.0001