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_172250.3(MMAA):c.489del (p.Phe163fs)	MMAA	Pathogenic	4	146563561	146563561	AT	A	criteria provided, single submitter	ClinGen:CA658657402
single nucleotide variant	NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)	MMUT	Likely pathogenic	6	49425586	49425586	C	T	criteria provided, single submitter	ClinGen:CA364404440
single nucleotide variant	NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	MMAA	Pathogenic	4	146567161	146567161	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA107725374
single nucleotide variant	NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	MMAA	Pathogenic	4	146576404	146576404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA107683237
single nucleotide variant	NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)	MMUT	Pathogenic	6	49427020	49427020	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA364405547
single nucleotide variant	NM_000255.4(MMUT):c.2020C>G (p.Leu674Val)	MMUT	Likely pathogenic	6	49403273	49403273	G	C	criteria provided, single submitter	ClinGen:CA364394527
single nucleotide variant	NM_000255.4(MMUT):c.1142G>T (p.Gly381Val)	MMUT	Likely pathogenic	6	49419369	49419369	C	A	criteria provided, single submitter	ClinGen:CA364399032
Deletion	NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)	MMUT	Pathogenic/Likely pathogenic	6	49419384	49419385	TGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683443
single nucleotide variant	NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	MMACHC	Pathogenic	1	45974704	45974704	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA827827
single nucleotide variant	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	MMAA	Pathogenic	4	146572222	146572222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3095257