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.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
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.881A>C (p.Asp294Ala)	ALPL	Pathogenic	1	21900176	21900176	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256921,UniProtKB:P05186#VAR_006163,OMIM:171760.0003
single nucleotide variant	NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	ALPL	Pathogenic/Likely pathogenic	1	21900187	21900187	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256926,UniProtKB:P05186#VAR_025928,OMIM:171760.0020
single nucleotide variant	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL	Pathogenic/Likely pathogenic	1	21890632	21890632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256927,UniProtKB:P05186#VAR_006158,OMIM:171760.0008
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
single nucleotide variant	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL	Pathogenic/Likely pathogenic	1	21902229	21902229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256929,UniProtKB:P05186#VAR_006166,OMIM:171760.0010
single nucleotide variant	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL	Pathogenic/Likely pathogenic	1	21900274	21900274	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256930,UniProtKB:P05186#VAR_006165,OMIM:171760.0011
Deletion	NM_000478.6(ALPL):c.1559del (p.Leu520fs)	ALPL	Pathogenic	1	21904125	21904125	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256931,OMIM:171760.0012
single nucleotide variant	NM_000478.6(ALPL):c.407G>A (p.Arg136His)	ALPL	Pathogenic/Likely pathogenic	1	21889712	21889712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256932,UniProtKB:P05186#VAR_006152,OMIM:171760.0013