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.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.600G>A (p.Trp200Ter)	MMACHC	Pathogenic	1	45974638	45974638	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA	Pathogenic	4	146560678	146560678	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312703
Deletion	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA	Pathogenic	4	146567165	146567168	ATGAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312707,OMIM:607481.0001
single nucleotide variant	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	MMAA	Pathogenic	4	146576317	146576317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312708
single nucleotide variant	NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly)	MMUT	Pathogenic	6	49407990	49407990	T	C	criteria provided, single submitter	ClinGen:CA312771
single nucleotide variant	NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)	MMUT	Pathogenic/Likely pathogenic	6	49412365	49412365	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312769
Indel	NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter)	MMUT	Pathogenic	6	49412397	49412398	CC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA312786
single nucleotide variant	NM_000255.4(MMUT):c.1560+1G>T	MMUT	Pathogenic	6	49415382	49415382	C	A	criteria provided, multiple submitters, no conflicts	-