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.1108A>C (p.Thr370Pro)	MMUT	Likely pathogenic	6	49419403	49419403	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA312765,UniProtKB:P22033#VAR_026613
single nucleotide variant	NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	MMUT	Pathogenic	6	49419405	49419405	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P22033#VAR_004417,ClinGen:CA312764
single nucleotide variant	NM_000255.4(MMUT):c.1084-10A>G	MMUT	Pathogenic	6	49419437	49419437	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312763
single nucleotide variant	NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	MMUT	Pathogenic/Likely pathogenic	6	49421399	49421399	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312762,UniProtKB:P22033#VAR_022406
single nucleotide variant	NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)	MMUT	Pathogenic	6	49423862	49423862	A	G	criteria provided, single submitter	ClinGen:CA312783,UniProtKB:P22033#VAR_026605
single nucleotide variant	NM_000255.4(MMUT):c.753+2T>A	MMUT	Pathogenic	6	49425402	49425402	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	MMUT	Pathogenic	6	49425475	49425475	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312778
single nucleotide variant	NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	MMUT	Pathogenic	6	49425585	49425585	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312777,UniProtKB:P22033#VAR_004411
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_000255.4(MMUT):c.329A>G (p.Tyr110Cys)	MMUT	Pathogenic	6	49426851	49426851	T	C	criteria provided, single submitter	ClinGen:CA312775,UniProtKB:P22033#VAR_075380