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.1247C>T (p.Thr416Ile)	GCDH	Likely pathogenic	19	13010285	13010285	C	T	criteria provided, single submitter	ClinGen:CA252096,UniProtKB:Q92947#VAR_000418,OMIM:608801.0003
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
Deletion	NM_000159.4(GCDH):c.80_81del (p.Ala27fs)	GCDH	Likely pathogenic	19	13002197	13002198	GGC	G	criteria provided, single submitter	ClinGen:CA16041962
single nucleotide variant	NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)	GCDH	Likely pathogenic	19	13004301	13004301	T	G	criteria provided, single submitter	ClinGen:CA16041967
Deletion	NM_000159.4(GCDH):c.505+1_505+8del	GCDH	Likely pathogenic	19	13004465	13004472	CTGGGTGAG	C	criteria provided, single submitter	ClinGen:CA16041968
Deletion	NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer)	GCDH	Likely pathogenic	19	13007045	13007048	CTGTT	C	criteria provided, single submitter	ClinGen:CA16041970
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
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.1169G>C (p.Gly390Ala)	GCDH	Likely pathogenic	19	13008603	13008603	G	C	criteria provided, single submitter	ClinGen:CA16041974
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