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.636-4_639del	GCDH	Pathogenic/Likely pathogenic	19	13007014	13007021	CCCCAGGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234457
Deletion	NM_000159.4(GCDH):c.636-3_639del	GCDH	Likely pathogenic	19	13007015	13007021	CCCAGGAT	C	criteria provided, single submitter	ClinGen:CA658684223
single nucleotide variant	NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)	GCDH	Pathogenic	19	13006841	13006841	G	C	criteria provided, single submitter	ClinGen:CA9234426
single nucleotide variant	NM_000159.4(GCDH):c.881G>T (p.Arg294Leu)	GCDH	Likely pathogenic	19	13007752	13007752	G	T	criteria provided, single submitter	ClinGen:CA404319365
single nucleotide variant	NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	GCDH	Pathogenic/Likely pathogenic	19	13002939	13002939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404315814
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
single nucleotide variant	NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	GCDH	Pathogenic/Likely pathogenic	19	13002779	13002779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305500199
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.3G>A (p.Met1Ile)	GCDH	Likely pathogenic	19	13002121	13002121	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1A>C (p.Met1Leu)	GCDH	Likely pathogenic	19	13002119	13002119	A	C	criteria provided, multiple submitters, no conflicts	-