低ホスファターゼ症

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_000478.6(ALPL):c.211C>T (p.Arg71Cys)	ALPL	Pathogenic/Likely pathogenic	1	21887619	21887619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256920,UniProtKB:P05186#VAR_006149,OMIM:171760.0002
single nucleotide variant	NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	ALPL	Pathogenic/Likely pathogenic	1	21890596	21890596	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256919,UniProtKB:P05186#VAR_006156,OMIM:171760.0001