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_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17	Pathogenic	2	27535443	27535443	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322609,UniProtKB:P39210#VAR_076203,OMIM:137960.0008
single nucleotide variant	NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)	MPV17	Likely pathogenic	2	27532802	27532802	G	A	criteria provided, single submitter	ClinGen:CA342985
single nucleotide variant	NM_002437.5(MPV17):c.70+5G>A	MPV17	Pathogenic	2	27545310	27545310	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)	GDAP1	Pathogenic	8	75272408	75272408	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343058
single nucleotide variant	NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)	FGD4	Pathogenic	12	32755151	32755151	T	G	criteria provided, single submitter	OMIM:611104.0002,ClinGen:CA343103,UniProtKB:Q96M96#VAR_034957
single nucleotide variant	NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	TRPV4	Pathogenic/Likely pathogenic	12	110246103	110246103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204955,OMIM:605427.0033
single nucleotide variant	NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	DHTKD1	Likely pathogenic	10	12139779	12139779	T	G	criteria provided, single submitter	ClinGen:CA130364,OMIM:614984.0004
single nucleotide variant	NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)	GDAP1	Pathogenic/Likely pathogenic	8	75276505	75276505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130724,OMIM:606598.0016
single nucleotide variant	NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)	EGR2	Pathogenic	10	64573322	64573322	C	T	criteria provided, single submitter	ClinGen:CA343871
single nucleotide variant	NM_000399.5(EGR2):c.1142G>A (p.Arg381His)	EGR2	Pathogenic	10	64573256	64573256	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343874,UniProtKB:P11161#VAR_009875