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
Duplication	NM_000478.6(ALPL):c.1017dup (p.His340fs)	ALPL	Pathogenic/Likely pathogenic	1	21902242	21902243	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)	ALPL	Pathogenic/Likely pathogenic	1	21904117	21904132	TCTACCCCCTGAGCGTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter)	ALPL	Likely pathogenic	1	21903890	21903890	C	T	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs)	ALPL	Likely pathogenic	1	21903038	21903041	CACAG	C	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.392del (p.Ser131fs)	ALPL	Pathogenic/Likely pathogenic	1	21889697	21889697	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000478.6(ALPL):c.427del (p.Gln143fs)	ALPL	Likely pathogenic	1	21889730	21889730	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)	ALPL	Likely pathogenic	1	21902267	21902267	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.862+1G>A	ALPL	Likely pathogenic	1	21896868	21896868	G	A	criteria provided, single submitter	-
Duplication	NM_000478.6(ALPL):c.225_228dup (p.Leu77fs)	ALPL	Pathogenic/Likely pathogenic	1	21887631	21887632	G	GGTCA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001177520.3(ALPL):c.66+353dup	ALPL	Pathogenic/Likely pathogenic	1	21887588	21887589	A	AG	criteria provided, multiple submitters, no conflicts	-