ファブリー病 - MGenReviews

ファブリー病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000169.3(GLA):c.770C>T (p.Ala257Val)	GLA	Pathogenic/Likely pathogenic	X	100653804	100653804	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.863del (p.Ala288fs)	GLA	Pathogenic/Likely pathogenic	X	100653494	100653494	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.874G>C (p.Ala292Pro)	GLA	Likely pathogenic	X	100653483	100653483	C	G	criteria provided, single submitter	-
Duplication	NM_000169.3(GLA):c.994dup (p.Arg332fs)	GLA	Pathogenic	X	100653362	100653363	C	CT	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)	GLA	Likely pathogenic	X	100653011	100653025	AATCTCCTGCCGGTTT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)	GLA	Pathogenic	X	100656765	100656765	A	C	criteria provided, single submitter	-
Indel	NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla)	GLA	Likely pathogenic	X	100656754	100656769	CCAACATCTGCATAAA	GCAG	criteria provided, single submitter	-
Deletion	NM_000169.3(GLA):c.295del (p.Gln99fs)	GLA	Pathogenic/Likely pathogenic	X	100658873	100658873	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.1077del (p.Ile359fs)	GLA	Pathogenic	X	100653010	100653010	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.640-1G>A	GLA	Pathogenic	X	100653935	100653935	C	T	criteria provided, multiple submitters, no conflicts	-