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
Deletion	NM_052845.4(MMAB):c.197-2del	MMAB	Likely pathogenic	12	110006670	110006670	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB	Pathogenic/Likely pathogenic	12	110011274	110011274	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_052845.4(MMAB):c.583_584+18del	MMAB	Likely pathogenic	12	109998827	109998846	CTCTCTCCAGCCCTCTTACCG	C	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)	MMAA	Likely pathogenic	4	146576413	146576413	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe)	MMUT	Likely pathogenic	6	49403273	49403273	G	A	criteria provided, single submitter	-
Duplication	NM_000255.4(MMUT):c.1885dup (p.Arg629fs)	MMUT	Pathogenic	6	49407989	49407990	C	CT	criteria provided, single submitter	-
Duplication	NM_000255.4(MMUT):c.1148dup (p.Ser384fs)	MMUT	Pathogenic	6	49419362	49419363	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.912-1G>A	MMUT	Likely pathogenic	6	49421470	49421470	C	T	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.567T>G (p.Asn189Lys)	MMUT	Likely pathogenic	6	49425590	49425590	A	C	criteria provided, single submitter	-