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.1324C>T (p.Gln442Ter)	ALPL	Likely pathogenic	1	21903890	21903890	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL	Pathogenic/Likely pathogenic	1	21903075	21903075	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA199266,UniProtKB:P05186#VAR_025937,OMIM:171760.0017
Deletion	NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs)	ALPL	Likely pathogenic	1	21903038	21903041	CACAG	C	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_21575723)_(21575934_?)del	ALPL	Likely pathogenic	1	21902216	21902427	na	na	criteria provided, single submitter	-
Duplication	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	ALPL	Pathogenic/Likely pathogenic	1	21902409	21902410	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL	Pathogenic/Likely pathogenic	1	21902399	21902399	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000478.6(ALPL):c.1171dup (p.Arg391fs)	ALPL	Pathogenic/Likely pathogenic	1	21902393	21902394	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA666743
single nucleotide variant	NM_000478.6(ALPL):c.1144G>A (p.Val382Ile)	ALPL	Pathogenic/Likely pathogenic	1	21902372	21902372	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666741
single nucleotide variant	NM_000478.6(ALPL):c.1142A>G (p.His381Arg)	ALPL	Pathogenic/Likely pathogenic	1	21902370	21902370	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL	Pathogenic	1	21902361	21902361	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256928,UniProtKB:P05186#VAR_006167,OMIM:171760.0009