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
Deletion	NM_000169.3(GLA):c.1057_1058del (p.Met353fs)	GLA	Pathogenic/Likely pathogenic	X	100653029	100653030	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604810
single nucleotide variant	NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	GLA	Pathogenic	X	100653021	100653021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021340,UniProtKB:P06280#VAR_000488,OMIM:300644.0001
single nucleotide variant	NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)	GLA	Pathogenic	X	100653018	100653018	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)	GLA	Pathogenic	X	100653015	100653015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021353,UniProtKB:P06280#VAR_000489
Deletion	NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	GLA	Pathogenic/Likely pathogenic	X	100653013	100653015	TCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021346
Deletion	NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)	GLA	Likely pathogenic	X	100653011	100653025	AATCTCCTGCCGGTTT	A	criteria provided, single submitter	-
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.1079G>A (p.Gly360Asp)	GLA	Likely pathogenic	X	100653008	100653008	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)	GLA	Pathogenic	X	100653006	100653006	C	T	criteria provided, single submitter	ClinGen:CA10584626,UniProtKB:P06280#VAR_000491
single nucleotide variant	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA	Pathogenic/Likely pathogenic	X	100653000	100653000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021376