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.1130C>A (p.Ala377Glu)	MMUT	Likely pathogenic	6	49419381	49419381	G	T	criteria provided, single submitter	ClinGen:CA115263,UniProtKB:P22033#VAR_004418,OMIM:609058.0003
single nucleotide variant	NM_000255.4(MMUT):c.278G>A (p.Arg93His)	MMUT	Pathogenic	6	49426902	49426902	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA249728,UniProtKB:P22033#VAR_004409,OMIM:609058.0004
single nucleotide variant	NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	MMUT	Pathogenic	6	49399544	49399544	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249729,UniProtKB:P22033#VAR_004432,OMIM:609058.0005
single nucleotide variant	NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)	MMUT	Pathogenic	6	49426831	49426831	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA115264,OMIM:609058.0006
single nucleotide variant	NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	MMUT	Pathogenic	6	49408008	49408008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA249730,UniProtKB:P22033#VAR_004420,OMIM:609058.0008
single nucleotide variant	NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	MMUT	Pathogenic	6	49425502	49425502	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249731,UniProtKB:P22033#VAR_022403,OMIM:609058.0010
single nucleotide variant	NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	MMUT	Pathogenic	6	49426858	49426858	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249732,UniProtKB:P22033#VAR_026596,OMIM:609058.0011,ClinVar:424788
single nucleotide variant	NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)	MMUT	Pathogenic	6	49425514	49425514	C	T	criteria provided, single submitter	ClinGen:CA249733,UniProtKB:P22033#VAR_022401,OMIM:609058.0012
single nucleotide variant	NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	MCEE	Pathogenic	2	71351575	71351575	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339966,OMIM:608419.0001
single nucleotide variant	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB	Pathogenic/Likely pathogenic	12	109998873	109998873	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312714,UniProtKB:Q96EY8#VAR_017205,OMIM:607568.0001