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.346G>A (p.Ala116Thr)	ALPL	Pathogenic/Likely pathogenic	1	21889651	21889651	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA123348,UniProtKB:P05186#VAR_013977,OMIM:171760.0015
single nucleotide variant	NM_000478.6(ALPL):c.648+1G>A	ALPL	Pathogenic	1	21890710	21890710	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212949,OMIM:171760.0016
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
single nucleotide variant	NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)	ALPL	Pathogenic	1	21903932	21903932	G	A	criteria provided, single submitter	ClinGen:CA256934,UniProtKB:P05186#VAR_011091,OMIM:171760.0019
single nucleotide variant	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL	Pathogenic/Likely pathogenic	1	21890587	21890587	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256935,UniProtKB:P05186#VAR_011083,OMIM:171760.0022
single nucleotide variant	NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	ALPL	Pathogenic	1	21896819	21896819	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256936,OMIM:171760.0023
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
Indel	NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)	ALPL	Pathogenic/Likely pathogenic	1	21889705	21889706	AC	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274069
single nucleotide variant	NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	ALPL	Pathogenic/Likely pathogenic	1	21890603	21890603	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273974,UniProtKB:P05186#VAR_013982
single nucleotide variant	NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	ALPL	Pathogenic/Likely pathogenic	1	21894615	21894615	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274235,UniProtKB:P05186#VAR_013986