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.815G>A (p.Arg272His)	ALPL	Pathogenic/Likely pathogenic	1	21896820	21896820	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666626
single nucleotide variant	NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	ALPL	Pathogenic/Likely pathogenic	1	21889645	21889645	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338877136
single nucleotide variant	NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	ALPL	Pathogenic/Likely pathogenic	1	21903969	21903969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA666842
single nucleotide variant	NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	ALPL	Pathogenic/Likely pathogenic	1	21903929	21903929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666834
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
Duplication	NM_000478.6(ALPL):c.662dup (p.Gly222fs)	ALPL	Pathogenic/Likely pathogenic	1	21894604	21894605	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040717
Deletion	NM_000478.6(ALPL):c.522del (p.Ser175fs)	ALPL	Pathogenic/Likely pathogenic	1	21890579	21890579	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA666519
single nucleotide variant	NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)	ALPL	Pathogenic/Likely pathogenic	1	21887187	21887187	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040714
Deletion	NM_000478.6(ALPL):c.129del (p.Gln44fs)	ALPL	Pathogenic/Likely pathogenic	1	21887185	21887185	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA666403
single nucleotide variant	NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)	ALPL	Pathogenic/Likely pathogenic	1	21887145	21887145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040712