メチルマロン酸血症

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_172250.3(MMAA):c.1034del (p.Phe345fs)	MMAA	Pathogenic	4	146576361	146576361	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224212
single nucleotide variant	NM_000255.4(MMUT):c.323G>A (p.Arg108His)	MMUT	Pathogenic	6	49426857	49426857	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA235522,UniProtKB:P22033#VAR_022394
single nucleotide variant	NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	MMACHC	Pathogenic	1	45973222	45973222	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA272838,OMIM:609831.0008
single nucleotide variant	NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	MMACHC	Likely pathogenic	1	45973222	45973222	G	A	criteria provided, single submitter	ClinGen:CA272840,OMIM:609831.0009
single nucleotide variant	NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	MMUT	Pathogenic	6	49419304	49419304	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234287
single nucleotide variant	NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)	MMUT	Pathogenic/Likely pathogenic	6	49426900	49426900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA234291,UniProtKB:P22033#VAR_026594
single nucleotide variant	NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	MMACHC	Pathogenic	1	45966007	45966007	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC	Pathogenic	1	45973163	45973163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312728
Deletion	NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	MMACHC	Pathogenic	1	45973933	45973936	CCCAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312742
single nucleotide variant	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC	Pathogenic	1	45974027	45974027	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275943