グルタル酸血症1型

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_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	GCDH	Pathogenic	19	13008590	13008590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234621
single nucleotide variant	NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	GCDH	Pathogenic/Likely pathogenic	19	13008581	13008581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274040,UniProtKB:Q92947#VAR_000405
single nucleotide variant	NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)	GCDH	Likely pathogenic	19	13008552	13008552	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	GCDH	Pathogenic	19	13008527	13008527	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92947#VAR_000402,OMIM:608801.0005,ClinGen:CA252098
single nucleotide variant	NM_000159.4(GCDH):c.1082+1G>T	GCDH	Likely pathogenic	19	13008243	13008243	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1064G>A (p.Arg355His)	GCDH	Pathogenic	19	13008224	13008224	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234590
single nucleotide variant	NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	GCDH	Pathogenic/Likely pathogenic	19	13008223	13008223	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234589
single nucleotide variant	NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	GCDH	Pathogenic/Likely pathogenic	19	13008220	13008220	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274169,UniProtKB:Q92947#VAR_000399
single nucleotide variant	NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	GCDH	Pathogenic	19	13008214	13008214	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)	GCDH	Pathogenic	19	13008191	13008191	C	T	criteria provided, single submitter	ClinGen:CA351605