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
Duplication	NM_015506.3(MMACHC):c.364dup (p.His122fs)	MMACHC	Pathogenic	1	45973968	45973969	G	GC	criteria provided, single submitter	-
Deletion	NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	MMACHC	Pathogenic/Likely pathogenic	1	45973991	45973991	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)	MMACHC	Likely pathogenic	1	45973998	45973998	C	T	criteria provided, single submitter	-
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
Deletion	NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974005	45974006	CAA	C	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	MMACHC	Likely pathogenic	1	45974034	45974034	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC	Pathogenic/Likely pathogenic	1	45974478	45974478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312733,UniProtKB:Q9Y4U1#VAR_024775
single nucleotide variant	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC	Pathogenic/Likely pathogenic	1	45974478	45974478	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312732,UniProtKB:Q9Y4U1#VAR_024774
single nucleotide variant	NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	MMACHC	Pathogenic	1	45974495	45974495	C	T	criteria provided, multiple submitters, no conflicts	-