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.2020C>G (p.Leu674Val)	MMUT	Likely pathogenic	6	49403273	49403273	G	C	criteria provided, single submitter	ClinGen:CA364394527
single nucleotide variant	NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)	MMUT	Likely pathogenic	6	49425586	49425586	C	T	criteria provided, single submitter	ClinGen:CA364404440
Duplication	NM_172250.3(MMAA):c.829dup (p.Arg277fs)	MMAA	Likely pathogenic	4	146575151	146575152	C	CA	criteria provided, single submitter	ClinGen:CA3095291
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_172250.3(MMAA):c.1104G>A (p.Trp368Ter)	MMAA	Likely pathogenic	4	146576433	146576433	G	A	criteria provided, single submitter	ClinGen:CA358346012
single nucleotide variant	NM_000255.4(MMUT):c.410C>G (p.Ala137Gly)	MMUT	Likely pathogenic	6	49425747	49425747	G	C	criteria provided, single submitter	ClinGen:CA138800018
single nucleotide variant	NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr)	MMUT	Likely pathogenic	6	49421464	49421464	G	T	criteria provided, single submitter	ClinGen:CA364401067
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_172250.3(MMAA):c.562+1G>A	MMAA	Likely pathogenic	4	146563638	146563638	G	A	criteria provided, single submitter	ClinGen:CA358780
single nucleotide variant	NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)	MMUT	Likely pathogenic	6	49425466	49425466	A	T	criteria provided, single submitter	UniProtKB:P22033#VAR_004413,ClinGen:CA347881