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_000255.4(MMUT):c.927G>A (p.Trp309Ter)	MMUT	Pathogenic	6	49421454	49421454	C	T	criteria provided, single submitter	ClinGen:CA10575873
single nucleotide variant	NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)	MMUT	Pathogenic	6	49423853	49423853	C	T	criteria provided, single submitter	ClinGen:CA10575874,UniProtKB:P22033#VAR_077220
single nucleotide variant	NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)	MMUT	Pathogenic	6	49423876	49423876	C	G	criteria provided, single submitter	ClinGen:CA10575876,UniProtKB:P22033#VAR_077219
single nucleotide variant	NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	MMUT	Pathogenic	6	49425464	49425464	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575877
Duplication	NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)	MMUT	Pathogenic	6	49425464	49425465	G	GT	criteria provided, single submitter	ClinGen:CA3847068
single nucleotide variant	NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)	MMUT	Pathogenic/Likely pathogenic	6	49425468	49425468	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575878,UniProtKB:P22033#VAR_077218
Deletion	NM_000255.4(MMUT):c.630del (p.Glu211fs)	MMUT	Pathogenic	6	49425527	49425527	CT	C	criteria provided, single submitter	ClinGen:CA10575879
single nucleotide variant	NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)	MMUT	Pathogenic/Likely pathogenic	6	49425591	49425591	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3847091,UniProtKB:P22033#VAR_077216
single nucleotide variant	NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)	MMUT	Pathogenic	6	49425597	49425597	G	C	criteria provided, single submitter	ClinGen:CA10575881,UniProtKB:P22033#VAR_077215
single nucleotide variant	NM_000255.4(MMUT):c.467A>T (p.Asp156Val)	MMUT	Pathogenic	6	49425690	49425690	T	A	criteria provided, single submitter	ClinGen:CA3847103,UniProtKB:P22033#VAR_077213