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
Duplication	NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	MMUT	Pathogenic	6	49425478	49425479	C	CCATAAATT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	MMUT	Pathogenic	6	49425427	49425428	C	CAA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	MMUT	Pathogenic/Likely pathogenic	6	49408029	49408029	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)	MMUT	Pathogenic/Likely pathogenic	6	49419397	49419419	ATTGCAGTACGGACAATATTATTG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1990del (p.Ala664fs)	MMUT	Likely pathogenic	6	49403303	49403303	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)	MMUT	Pathogenic/Likely pathogenic	6	49416622	49416622	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	MMUT	Pathogenic/Likely pathogenic	6	49407995	49407995	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	MMUT	Pathogenic/Likely pathogenic	6	49407951	49407951	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)	MMUT	Likely pathogenic	6	49403187	49403187	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)	MMUT	Likely pathogenic	6	49399563	49399563	C	A	criteria provided, single submitter	-