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.415G>A (p.Asp139Asn)	MMUT	Pathogenic	6	49425742	49425742	C	T	criteria provided, single submitter	ClinGen:CA10575882,UniProtKB:P22033#VAR_077212
single nucleotide variant	NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)	MMUT	Pathogenic	6	49425760	49425760	C	T	criteria provided, single submitter	ClinGen:CA10575883,UniProtKB:P22033#VAR_077211
single nucleotide variant	NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)	MMUT	Pathogenic	6	49426802	49426802	G	T	criteria provided, single submitter	ClinGen:CA10575884,UniProtKB:P22033#VAR_077210
single nucleotide variant	NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)	MMUT	Pathogenic	6	49426850	49426850	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575885
single nucleotide variant	NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	MMUT	Pathogenic	6	49427051	49427051	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575886
single nucleotide variant	NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)	MMUT	Pathogenic	6	49427092	49427092	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575887
Duplication	NM_000255.4(MMUT):c.55dup (p.Val19fs)	MMUT	Pathogenic	6	49427124	49427125	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575888
Duplication	NM_000255.4(MMUT):c.30dup (p.Leu11fs)	MMUT	Pathogenic	6	49427149	49427150	G	GT	criteria provided, single submitter	ClinGen:CA10575889
single nucleotide variant	NM_000255.4(MMUT):c.2T>C (p.Met1Thr)	MMUT	Pathogenic	6	49427178	49427178	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575890
single nucleotide variant	NM_000255.4(MMUT):c.-39-1G>A	MMUT	Pathogenic	6	49427219	49427219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575891