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_172250.3(MMAA):c.658G>A (p.Val220Met)	MMAA	Pathogenic/Likely pathogenic	4	146567233	146567233	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3095228
single nucleotide variant	NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)	MMUT	Pathogenic/Likely pathogenic	6	49421405	49421405	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA364400752
single nucleotide variant	NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	MMUT	Pathogenic/Likely pathogenic	6	49407986	49407986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846717
Deletion	NM_000255.4(MMUT):c.312del (p.Trp105fs)	MMUT	Pathogenic/Likely pathogenic	6	49426868	49426868	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618295
single nucleotide variant	NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	MMUT	Pathogenic/Likely pathogenic	6	49425514	49425514	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618294
single nucleotide variant	NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)	MMUT	Pathogenic/Likely pathogenic	6	49409643	49409643	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846763,UniProtKB:P22033#VAR_026625
single nucleotide variant	NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)	MMUT	Pathogenic/Likely pathogenic	6	49425591	49425591	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3847091,UniProtKB:P22033#VAR_077216
single nucleotide variant	NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)	MMUT	Pathogenic/Likely pathogenic	6	49425468	49425468	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575878,UniProtKB:P22033#VAR_077218
single nucleotide variant	NM_000255.4(MMUT):c.1084-2A>G	MMUT	Pathogenic/Likely pathogenic	6	49419429	49419429	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575871
single nucleotide variant	NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)	MMUT	Pathogenic/Likely pathogenic	6	49415454	49415454	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575864