グルタル酸血症1型

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_000159.4(GCDH):c.675G>A (p.Trp225Ter)	GCDH	Pathogenic/Likely pathogenic	19	13007058	13007058	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274778
single nucleotide variant	NM_000159.4(GCDH):c.856C>T (p.Pro286Ser)	GCDH	Likely pathogenic	19	13007727	13007727	C	T	criteria provided, single submitter	ClinGen:CA274776
single nucleotide variant	NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	GCDH	Pathogenic	19	13008647	13008647	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274948
single nucleotide variant	NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	GCDH	Pathogenic/Likely pathogenic	19	13008602	13008602	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274950,UniProtKB:Q92947#VAR_000408
single nucleotide variant	NM_000159.4(GCDH):c.1244-2A>C	GCDH	Pathogenic	19	13010280	13010280	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274964
single nucleotide variant	NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	GCDH	Pathogenic/Likely pathogenic	19	13006872	13006872	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275381,UniProtKB:Q92947#VAR_000378
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
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
Deletion	NM_000159.4(GCDH):c.79del (p.Ala27fs)	GCDH	Pathogenic/Likely pathogenic	19	13002196	13002196	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041961
Deletion	NM_000159.4(GCDH):c.80_81del (p.Ala27fs)	GCDH	Likely pathogenic	19	13002197	13002198	GGC	G	criteria provided, single submitter	ClinGen:CA16041962