メチルマロン酸血症

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_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC	Pathogenic/Likely pathogenic	1	45973954	45973954	T	C	criteria provided, multiple submitters, no conflicts	OMIM:609831.0002,ClinGen:CA251786,UniProtKB:Q9Y4U1#VAR_024771
single nucleotide variant	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC	Pathogenic	1	45974001	45974001	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251787,OMIM:609831.0003
single nucleotide variant	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC	Pathogenic	1	45973938	45973938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251789,OMIM:609831.0004
single nucleotide variant	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC	Pathogenic	1	45974520	45974520	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223191,UniProtKB:Q9Y4U1#VAR_024779,OMIM:609831.0005,ClinVar:424754
single nucleotide variant	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	MMACHC	Pathogenic	1	45974647	45974647	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259906,OMIM:609831.0006
single nucleotide variant	NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC	Pathogenic	1	45974519	45974519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223189
single nucleotide variant	NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	MMACHC	Pathogenic	1	45974646	45974646	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223195
Deletion	NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	MMACHC	Pathogenic	1	45974694	45974696	CAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA223197,OMIM:609831.0007
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