シャルコー・マリー・トゥース病

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_001605.3(AARS1):c.986G>A (p.Arg329His)	AARS1	Pathogenic/Likely pathogenic	16	70302259	70302259	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254396,UniProtKB:P49588#VAR_063527,OMIM:601065.0001
single nucleotide variant	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	AARS1	Likely pathogenic	16	70310960	70310960	T	G	criteria provided, single submitter	ClinGen:CA199541,UniProtKB:P49588#VAR_073719,OMIM:601065.0003
single nucleotide variant	NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)	AARS1	Likely pathogenic	16	70302260	70302260	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620263
Deletion	NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)	AARS1	Likely pathogenic	16	70310871	70310875	TTAAAG	T	criteria provided, single submitter	ClinGen:CA8141173
single nucleotide variant	NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)	AARS1	Likely pathogenic	16	70310898	70310898	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1	Pathogenic	X	129270060	129270060	C	T	criteria provided, single submitter	ClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007
single nucleotide variant	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1	Pathogenic/Likely pathogenic	X	129270061	129270061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006
single nucleotide variant	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	AIFM1	Likely pathogenic	X	129270141	129270141	A	C	criteria provided, single submitter	ClinGen:CA322395
single nucleotide variant	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Likely pathogenic	X	129267384	129267384	C	T	criteria provided, single submitter	ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
single nucleotide variant	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1	Pathogenic/Likely pathogenic	X	129271109	129271109	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043577,OMIM:300169.0015