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.11T>A (p.Leu4Ter)	HGD	Pathogenic/Likely pathogenic	3	120400948	120400948	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277982
single nucleotide variant	NM_000187.4(HGD):c.3G>C (p.Met1Ile)	HGD	Pathogenic/Likely pathogenic	3	120400956	120400956	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040901