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.215T>C (p.Ile72Thr)	ALPL	Pathogenic/Likely pathogenic	1	21887623	21887623	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274142
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
Deletion	NM_000478.6(ALPL):c.205_212del (p.Ala69fs)	ALPL	Likely pathogenic	1	21887611	21887618	ACGGCTGCC	A	criteria provided, single submitter	ClinGen:CA658795411
Duplication	NM_001177520.3(ALPL):c.66+353dup	ALPL	Pathogenic/Likely pathogenic	1	21887588	21887589	A	AG	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_000478.6(ALPL):c.114del (p.Lys38fs)	ALPL	Likely pathogenic	1	21887169	21887169	GA	G	criteria provided, single submitter	ClinGen:CA16040713
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
single nucleotide variant	NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)	ALPL	Likely pathogenic	1	21887144	21887144	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000478.6(ALPL):c.61+2T>G	ALPL	Likely pathogenic	1	21880637	21880637	T	G	criteria provided, single submitter	ClinGen:CA666363