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_000255.4(MMUT):c.2099T>A (p.Met700Lys)	MMUT	Likely pathogenic	6	49403194	49403194	A	T	criteria provided, single submitter	ClinGen:CA347863,UniProtKB:P22033#VAR_022418
single nucleotide variant	NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	MMUT	Pathogenic	6	49403213	49403213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347907,UniProtKB:P22033#VAR_004430
single nucleotide variant	NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	MMUT	Pathogenic	6	49419231	49419231	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347873,UniProtKB:P22033#VAR_026621
single nucleotide variant	NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	MMUT	Pathogenic	6	49419406	49419406	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347895,UniProtKB:P22033#VAR_026612
single nucleotide variant	NM_000255.4(MMUT):c.935G>T (p.Gly312Val)	MMUT	Likely pathogenic	6	49421446	49421446	C	A	criteria provided, single submitter	UniProtKB:P22033#VAR_004414,ClinGen:CA347874
single nucleotide variant	NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)	MMUT	Likely pathogenic	6	49425466	49425466	A	T	criteria provided, single submitter	UniProtKB:P22033#VAR_004413,ClinGen:CA347881
single nucleotide variant	NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	MMUT	Pathogenic	6	49425550	49425550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347872,UniProtKB:P22033#VAR_022400
single nucleotide variant	NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)	MMUT	Pathogenic	6	49425636	49425636	A	G	criteria provided, single submitter	ClinGen:CA347890,UniProtKB:P22033#VAR_022399
single nucleotide variant	NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)	MMUT	Pathogenic	6	49426881	49426881	T	C	criteria provided, single submitter	ClinGen:CA347866,UniProtKB:P22033#VAR_075379
single nucleotide variant	NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)	MMUT	Pathogenic	6	49427161	49427161	G	A	criteria provided, single submitter	ClinGen:CA347859