シャルコー・マリー・トゥース病

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
Duplication	NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)	DHTKD1	Pathogenic/Likely pathogenic	10	12126694	12126695	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618937
single nucleotide variant	NM_018706.7(DHTKD1):c.1897-1G>A	DHTKD1	Pathogenic/Likely pathogenic	10	12148244	12148244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5408069
single nucleotide variant	NM_018706.7(DHTKD1):c.1386T>G (p.Tyr462Ter)	DHTKD1	Likely pathogenic	10	12139710	12139710	T	G	criteria provided, single submitter	ClinGen:CA376020573
Deletion	NM_018706.7(DHTKD1):c.748del (p.Glu250fs)	DHTKD1	Pathogenic	10	12131015	12131015	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter)	DHTKD1	Pathogenic	10	12149994	12149994	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)	DHTKD1	Likely pathogenic	10	12139867	12139867	C	A	criteria provided, single submitter	-
Deletion	NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)	DHTKD1	Pathogenic/Likely pathogenic	10	12160801	12160802	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	DNM2	Pathogenic	19	10904509	10904509	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118655,UniProtKB:P50570#VAR_031963,OMIM:602378.0004
single nucleotide variant	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	DNM2	Pathogenic	19	10904508	10904508	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118658,UniProtKB:P50570#VAR_031964,OMIM:602378.0005
single nucleotide variant	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	DNM2	Pathogenic	19	10909219	10909219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172098,UniProtKB:P50570#VAR_031965,OMIM:602378.0006