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
Deletion	NM_000159.4(GCDH):c.848del (p.Leu283fs)	GCDH	Pathogenic/Likely pathogenic	19	13007231	13007231	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234504
single nucleotide variant	NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	GCDH	Pathogenic/Likely pathogenic	19	13007153	13007153	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234482
single nucleotide variant	NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	GCDH	Pathogenic/Likely pathogenic	19	13007152	13007152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274064,UniProtKB:Q92947#VAR_000383
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
single nucleotide variant	NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)	GCDH	Pathogenic	19	13007134	13007134	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007126	13007126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041971
single nucleotide variant	NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)	GCDH	Likely pathogenic	19	13007120	13007120	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234477
Duplication	NM_000159.4(GCDH):c.727_730dup (p.Gly244fs)	GCDH	Likely pathogenic	19	13007108	13007109	T	TGCGG	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	GCDH	Pathogenic	19	13007063	13007063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220441,UniProtKB:Q92947#VAR_000380,OMIM:608801.0009
single nucleotide variant	NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)	GCDH	Pathogenic	19	13007062	13007062	C	T	criteria provided, single submitter	-