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_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)	HCFC1	Pathogenic	X	153217504	153217504	G	C	criteria provided, single submitter	ClinGen:CA353443
Deletion	NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	LMBRD1	Pathogenic	6	70411362	70411362	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA358088,OMIM:612625.0001
single nucleotide variant	NM_172250.3(MMAA):c.562+1G>A	MMAA	Likely pathogenic	4	146563638	146563638	G	A	criteria provided, single submitter	ClinGen:CA358780
single nucleotide variant	NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	MMAB	Pathogenic	12	110011284	110011284	A	G	criteria provided, single submitter	ClinGen:CA358800
single nucleotide variant	NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)	MMADHC	Pathogenic	2	150432957	150432957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588310
Duplication	NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs)	MMUT	Pathogenic	6	49421312	49421313	A	ACCAT	criteria provided, single submitter	ClinGen:CA10602989
single nucleotide variant	NM_052845.4(MMAB):c.568C>G (p.Arg190Gly)	MMAB	Pathogenic	12	109998861	109998861	G	C	criteria provided, single submitter	ClinGen:CA10603291
single nucleotide variant	NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	MMACHC	Pathogenic	1	45974653	45974653	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827807
single nucleotide variant	NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter)	MMUT	Pathogenic	6	49412429	49412429	A	T	criteria provided, single submitter	ClinGen:CA10603844
single nucleotide variant	NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)	MMUT	Pathogenic/Likely pathogenic	6	49409643	49409643	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846763,UniProtKB:P22033#VAR_026625