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.344C>T (p.Ala115Val)	HCFC1	Pathogenic	X	153229734	153229734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144900,OMIM:300019.0003
single nucleotide variant	NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg)	HCFC1	Pathogenic	X	153215838	153215838	C	T	criteria provided, single submitter	ClinGen:CA204692
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
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_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser)	HCFC1	Likely pathogenic	X	153216827	153216827	G	A	criteria provided, single submitter	ClinGen:CA415104008
Deletion	NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)	LMBRD1	Pathogenic/Likely pathogenic	6	70451727	70451728	CTG	C	criteria provided, multiple submitters, no conflicts	OMIM:612625.0002
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_032601.4(MCEE):c.139C>T (p.Arg47Ter)	MCEE	Pathogenic	2	71351575	71351575	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339966,OMIM:608419.0001
single nucleotide variant	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA	Pathogenic	4	146560574	146560574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340040,OMIM:607481.0003
single nucleotide variant	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA	Pathogenic/Likely pathogenic	4	146560724	146560724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312705,OMIM:607481.0005