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.87G>A (p.Trp29Ter)	ALPL	Likely pathogenic	1	21887144	21887144	G	A	criteria provided, single submitter	-
Deletion	NM_000478.6(ALPL):c.205_212del (p.Ala69fs)	ALPL	Likely pathogenic	1	21887611	21887618	ACGGCTGCC	A	criteria provided, single submitter	ClinGen:CA658795411
Deletion	NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)	ALPL	Likely pathogenic	1	21904124	21904125	CCT	C	criteria provided, single submitter	ClinGen:CA658656892
Deletion	NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer)	ALPL	Likely pathogenic	1	21889608	21889608	AC	A	criteria provided, single submitter	ClinGen:CA658653731
Deletion	NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs)	ALPL	Likely pathogenic	1	21904091	21904110	AGGCCCCCTGCTGCTCGCGCT	A	criteria provided, single submitter	ClinGen:CA16040724
single nucleotide variant	NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)	ALPL	Likely pathogenic	1	21903992	21903992	G	T	criteria provided, single submitter	ClinGen:CA16040723
single nucleotide variant	NM_000478.6(ALPL):c.998-2A>G	ALPL	Likely pathogenic	1	21902224	21902224	A	G	criteria provided, single submitter	ClinGen:CA16040721
Deletion	NM_000478.6(ALPL):c.903del (p.Asn302fs)	ALPL	Likely pathogenic	1	21900197	21900197	AG	A	criteria provided, single submitter	ClinGen:CA666672
Deletion	NM_000478.6(ALPL):c.841del (p.His281fs)	ALPL	Likely pathogenic	1	21896842	21896842	AC	A	criteria provided, single submitter	ClinGen:CA16040718
single nucleotide variant	NM_000478.6(ALPL):c.297+2T>A	ALPL	Likely pathogenic	1	21887707	21887707	T	A	criteria provided, single submitter	ClinGen:CA16040715