メチルマロン酸血症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_015506.3(MMACHC):c.3G>A (p.Met1Ile)	MMACHC	Pathogenic	1	45966007	45966007	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC	Pathogenic	1	45973163	45973163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312728
Deletion	NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	MMACHC	Pathogenic	1	45973933	45973936	CCCAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312742
single nucleotide variant	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC	Pathogenic	1	45974027	45974027	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275943
single nucleotide variant	NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC	Pathogenic/Likely pathogenic	1	45974478	45974478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312733,UniProtKB:Q9Y4U1#VAR_024775
single nucleotide variant	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC	Pathogenic/Likely pathogenic	1	45974478	45974478	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312732,UniProtKB:Q9Y4U1#VAR_024774
single nucleotide variant	NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)	MMACHC	Pathogenic	1	45974638	45974638	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	MMACHC	Pathogenic	1	45974653	45974653	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827807
single nucleotide variant	NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	MMACHC	Pathogenic	1	45966005	45966005	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827593
Deletion	NM_015506.3(MMACHC):c.352del (p.Gln118fs)	MMACHC	Pathogenic	1	45973957	45973957	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827711