グルタル酸血症1型

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.532G>A (p.Gly178Arg)	GCDH	Pathogenic/Likely pathogenic	19	13006832	13006832	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234423
single nucleotide variant	NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	GCDH	Pathogenic/Likely pathogenic	19	13006814	13006814	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041969
single nucleotide variant	NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	GCDH	Pathogenic/Likely pathogenic	19	13002743	13002743	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041966
Deletion	NM_000159.4(GCDH):c.219del (p.Tyr74fs)	GCDH	Pathogenic/Likely pathogenic	19	13002735	13002735	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041965
Deletion	NM_000159.4(GCDH):c.198del (p.Ile67fs)	GCDH	Pathogenic/Likely pathogenic	19	13002715	13002715	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041964
single nucleotide variant	NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	GCDH	Pathogenic/Likely pathogenic	19	13002689	13002689	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041963
Deletion	NM_000159.4(GCDH):c.79del (p.Ala27fs)	GCDH	Pathogenic/Likely pathogenic	19	13002196	13002196	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041961
single nucleotide variant	NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	GCDH	Pathogenic/Likely pathogenic	19	13006872	13006872	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275381,UniProtKB:Q92947#VAR_000378