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
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.5491C>T (p.Pro1831Ser)	HCFC1	Likely pathogenic	X	153216827	153216827	G	A	criteria provided, single submitter	ClinGen:CA415104008
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
Insertion	NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)	MMADHC	Pathogenic	2	150438734	150438735	A	AAT	criteria provided, single submitter	ClinGen:CA347852
single nucleotide variant	NM_015702.3(MMADHC):c.154+1G>A	MMADHC	Pathogenic/Likely pathogenic	2	150438640	150438640	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)	MMADHC	Pathogenic	2	150436021	150436022	CAA	C	criteria provided, single submitter	-
Duplication	NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)	MMADHC	Pathogenic	2	150433009	150433010	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA251601,OMIM:611935.0008
Duplication	NM_015702.3(MMADHC):c.455dup (p.Cys153fs)	MMADHC	Pathogenic	2	150432973	150432974	T	TG	criteria provided, single submitter	ClinGen:CA347878