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.892G>A (p.Ala298Thr)	GCDH	Pathogenic	19	13007763	13007763	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234539
single nucleotide variant	NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	GCDH	Pathogenic/Likely pathogenic	19	13007024	13007024	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404318457
single nucleotide variant	NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	GCDH	Pathogenic/Likely pathogenic	19	13002939	13002939	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234312
single nucleotide variant	NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)	GCDH	Pathogenic/Likely pathogenic	19	13008590	13008590	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608043
single nucleotide variant	NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004357	13004357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608038
single nucleotide variant	NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007147	13007147	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234481
Deletion	NM_000159.4(GCDH):c.1173del (p.Asn392fs)	GCDH	Pathogenic/Likely pathogenic	19	13008601	13008601	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234625
single nucleotide variant	NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	GCDH	Likely pathogenic	19	13008603	13008603	G	C	criteria provided, single submitter	ClinGen:CA16041974
Deletion	NM_000159.4(GCDH):c.873del (p.Asn291fs)	GCDH	Likely pathogenic	19	13007744	13007744	AC	A	criteria provided, single submitter	ClinGen:CA16041973
single nucleotide variant	NM_000159.4(GCDH):c.853-2A>G	GCDH	Likely pathogenic	19	13007722	13007722	A	G	criteria provided, single submitter	ClinGen:CA16041972