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_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC	Likely pathogenic	2	150426603	150426603	A	G	criteria provided, single submitter	ClinGen:CA114486,UniProtKB:Q9H3L0#VAR_043847,OMIM:611935.0001
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_015506.3(MMACHC):c.276G>A (p.Glu92=)	MMACHC	Likely pathogenic	1	45973222	45973222	G	A	criteria provided, single submitter	ClinGen:CA272840,OMIM:609831.0009
single nucleotide variant	NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)	MMUT	Likely pathogenic	6	49419403	49419403	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA312765,UniProtKB:P22033#VAR_026613
Duplication	NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)	MMUT	Likely pathogenic	6	49426805	49426806	G	GTCC	criteria provided, single submitter	ClinGen:CA312788
single nucleotide variant	NM_052845.4(MMAB):c.349-1G>C	MMAB	Likely pathogenic	12	109999658	109999658	C	G	criteria provided, single submitter	ClinGen:CA278558,OMIM:607568.0007
single nucleotide variant	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	MMAA	Likely pathogenic	4	146560452	146560452	G	A	criteria provided, single submitter	ClinGen:CA347884
single nucleotide variant	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA	Likely pathogenic	4	146560557	146560557	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347910,UniProtKB:Q8IVH4#VAR_020835
single nucleotide variant	NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	MMAA	Likely pathogenic	4	146567228	146567228	G	A	criteria provided, single submitter	ClinGen:CA347896,UniProtKB:Q8IVH4#VAR_020837
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