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.1655C>T (p.Ala552Val)	MMUT	Pathogenic	6	49412373	49412373	G	A	criteria provided, single submitter	ClinGen:CA10575863,UniProtKB:P22033#VAR_077229
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
Deletion	NM_000255.4(MMUT):c.1333-20_1333-9del	MMUT	Pathogenic	6	49416649	49416660	GAAAAACATTAAC	G	criteria provided, single submitter	ClinGen:CA10575865
single nucleotide variant	NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)	MMUT	Pathogenic	6	49419234	49419234	C	T	criteria provided, single submitter	ClinGen:CA10575866,UniProtKB:P22033#VAR_077228
Duplication	NM_000255.4(MMUT):c.1181dup (p.Leu394fs)	MMUT	Pathogenic	6	49419329	49419330	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575868
single nucleotide variant	NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)	MMUT	Pathogenic	6	49419347	49419347	A	T	criteria provided, single submitter	ClinGen:CA10575869,UniProtKB:P22033#VAR_077226
single nucleotide variant	NM_000255.4(MMUT):c.1084-1G>A	MMUT	Pathogenic	6	49419428	49419428	C	T	criteria provided, single submitter	ClinGen:CA10575870
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.977G>A (p.Arg326Lys)	MMUT	Pathogenic	6	49421404	49421404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846994,UniProtKB:P22033#VAR_077223
single nucleotide variant	NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)	MMUT	Pathogenic	6	49421407	49421407	C	T	criteria provided, single submitter	ClinGen:CA10575872,UniProtKB:P22033#VAR_077222