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.271+1G>A	GCDH	Pathogenic/Likely pathogenic	19	13002789	13002789	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274289
single nucleotide variant	NM_000159.4(GCDH):c.636-1G>A	GCDH	Pathogenic/Likely pathogenic	19	13007018	13007018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220440
single nucleotide variant	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH	Pathogenic/Likely pathogenic	19	13008638	13008638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252097,UniProtKB:Q92947#VAR_000412,OMIM:608801.0004
single nucleotide variant	NM_000159.4(GCDH):c.1182T>G (p.Ile394Met)	GCDH	Pathogenic	19	13008616	13008616	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)	GCDH	Pathogenic	19	13007062	13007062	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	GCDH	Pathogenic	19	13006853	13006853	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)	GCDH	Pathogenic	19	13004348	13004348	A	C	criteria provided, single submitter	-
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.1054C>T (p.Gln352Ter)	GCDH	Pathogenic	19	13008214	13008214	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1249C>G (p.His417Asp)	GCDH	Pathogenic	19	13010287	13010287	C	G	criteria provided, single submitter	ClinGen:CA404322111