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.2125-3C>G	MMUT	Pathogenic	6	49399572	49399572	G	C	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_49456070)_(49456247_?)del	MMUT	Pathogenic	6	49423783	49423960	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	MMUT	Pathogenic	6	49426899	49426899	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.622del (p.Val208fs)	MMUT	Pathogenic	6	49425535	49425535	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)	MMUT	Pathogenic/Likely pathogenic	6	49421434	49421434	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.753+1G>A	MMUT	Pathogenic/Likely pathogenic	6	49425403	49425403	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)	MMUT	Likely pathogenic	6	49425590	49425590	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)	MMUT	Pathogenic/Likely pathogenic	6	49407986	49407986	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.912-1G>A	MMUT	Likely pathogenic	6	49421470	49421470	C	T	criteria provided, single submitter	-
Duplication	NM_000255.4(MMUT):c.1148dup (p.Ser384fs)	MMUT	Pathogenic	6	49419362	49419363	C	CT	criteria provided, single submitter	-