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.5491C>T (p.Pro1831Ser)	HCFC1	Likely pathogenic	X	153216827	153216827	G	A	criteria provided, single submitter	ClinGen:CA415104008
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.5048C>G (p.Pro1683Arg)	HCFC1	Pathogenic	X	153217504	153217504	G	C	criteria provided, single submitter	ClinGen:CA353443
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.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_052845.4(MMAB):c.519+1G>A	MMAB	Likely pathogenic	12	109999224	109999224	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_052845.4(MMAB):c.644+1G>A	MMAB	Likely pathogenic	12	109996900	109996900	C	T	criteria provided, single submitter	-
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_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.197-2del	MMAB	Likely pathogenic	12	110006670	110006670	CT	C	criteria provided, single submitter	-