ファブリー病 - MGenReviews

ファブリー病

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_000169.3(GLA):c.62T>C (p.Leu21Pro)	GLA	Likely pathogenic	X	100662830	100662830	A	G	criteria provided, single submitter	ClinGen:CA353214,UniProtKB:P06280#VAR_077368
Duplication	NM_000169.3(GLA):c.59_72dup (p.Asp25fs)	GLA	Pathogenic/Likely pathogenic	X	100662819	100662820	C	CCCAGGAAACGAGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684326
Deletion	NM_000169.3(GLA):c.80del (p.Pro27fs)	GLA	Pathogenic	X	100662812	100662812	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022094
Duplication	NM_000169.3(GLA):c.85dup (p.Ala29fs)	GLA	Pathogenic	X	100662806	100662807	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.92C>T (p.Ala31Val)	GLA	Likely pathogenic	X	100662800	100662800	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.95T>C (p.Leu32Pro)	GLA	Pathogenic/Likely pathogenic	X	100662797	100662797	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.101A>G (p.Asn34Ser)	GLA	Pathogenic	X	100662791	100662791	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021300,UniProtKB:P06280#VAR_000432,OMIM:300644.0012
single nucleotide variant	NM_000169.3(GLA):c.109G>C (p.Ala37Pro)	GLA	Pathogenic/Likely pathogenic	X	100662783	100662783	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.109G>A (p.Ala37Thr)	GLA	Likely pathogenic	X	100662783	100662783	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.118C>T (p.Pro40Ser)	GLA	Pathogenic	X	100662774	100662774	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021436,UniProtKB:P06280#VAR_000434,OMIM:300644.0009