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_015506.3(MMACHC):c.1A>G (p.Met1Val)	MMACHC	Pathogenic	1	45966005	45966005	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827593
Deletion	NM_000255.4(MMUT):c.1007del (p.Met336fs)	MMUT	Pathogenic	6	49421374	49421374	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618293
single nucleotide variant	NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	MMUT	Pathogenic/Likely pathogenic	6	49425514	49425514	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618294
Deletion	NM_000255.4(MMUT):c.312del (p.Trp105fs)	MMUT	Pathogenic/Likely pathogenic	6	49426868	49426868	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618295
Indel	NM_005334.3(HCFC1):c.1781_1803+3delinsCA	HCFC1	Likely pathogenic	X	153224017	153224042	CACCATGACTGGCGAGGAGGCCACCT	TG	criteria provided, single submitter	ClinGen:CA16621242
single nucleotide variant	NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	MMUT	Pathogenic/Likely pathogenic	6	49407986	49407986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846717
single nucleotide variant	NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)	MMUT	Pathogenic/Likely pathogenic	6	49421405	49421405	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA364400752
single nucleotide variant	NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr)	MMUT	Likely pathogenic	6	49421464	49421464	G	T	criteria provided, single submitter	ClinGen:CA364401067
single nucleotide variant	NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	MMUT	Pathogenic	6	49425703	49425703	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3847107
single nucleotide variant	NM_000255.4(MMUT):c.410C>G (p.Ala137Gly)	MMUT	Likely pathogenic	6	49425747	49425747	G	C	criteria provided, single submitter	ClinGen:CA138800018