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
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
single nucleotide variant	NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC	Likely pathogenic	2	150426603	150426603	A	G	criteria provided, single submitter	ClinGen:CA114486,UniProtKB:Q9H3L0#VAR_043847,OMIM:611935.0001
single nucleotide variant	NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	MMADHC	Pathogenic	2	150426631	150426631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251599,OMIM:611935.0007
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
single nucleotide variant	NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC	Pathogenic/Likely pathogenic	1	45973954	45973954	T	C	criteria provided, multiple submitters, no conflicts	OMIM:609831.0002,ClinGen:CA251786,UniProtKB:Q9Y4U1#VAR_024771
single nucleotide variant	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC	Pathogenic	1	45974001	45974001	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251787,OMIM:609831.0003
single nucleotide variant	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC	Pathogenic	1	45973938	45973938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251789,OMIM:609831.0004
single nucleotide variant	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC	Pathogenic	1	45974520	45974520	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223191,UniProtKB:Q9Y4U1#VAR_024779,OMIM:609831.0005,ClinVar:424754
single nucleotide variant	NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	MMUT	Pathogenic/Likely pathogenic	6	49427128	49427128	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249725,OMIM:609058.0001
single nucleotide variant	NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	MMUT	Pathogenic/Likely pathogenic	6	49426867	49426867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA249727,UniProtKB:P22033#VAR_004410,OMIM:609058.0002