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.997C>T (p.Gln333Ter)	GCDH	Likely pathogenic	19	13008157	13008157	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.956+5G>A	GCDH	Likely pathogenic	19	13007832	13007832	G	A	criteria provided, single submitter	ClinGen:CA645369741
single nucleotide variant	NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	GCDH	Pathogenic/Likely pathogenic	19	13007785	13007785	C	T	criteria provided, multiple submitters, no conflicts	-
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.883T>C (p.Tyr295His)	GCDH	Pathogenic	19	13007754	13007754	T	C	criteria provided, single submitter	ClinGen:CA252094,UniProtKB:Q92947#VAR_000389,OMIM:608801.0001
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.881G>C (p.Arg294Pro)	GCDH	Pathogenic	19	13007752	13007752	G	C	criteria provided, single submitter	ClinGen:CA404319364
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.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.853-2A>G	GCDH	Likely pathogenic	19	13007722	13007722	A	G	criteria provided, single submitter	ClinGen:CA16041972