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
single nucleotide variant	NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	LMNA	Pathogenic	1	156105827	156105827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016555,UniProtKB:P02545#VAR_009985,OMIM:150330.0049
single nucleotide variant	NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	MPV17	Pathogenic	2	27535898	27535898	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P39210#VAR_026217,OMIM:137960.0001,ClinGen:CA341380
single nucleotide variant	NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	MPV17	Pathogenic	2	27535899	27535899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341382,UniProtKB:P39210#VAR_026218,OMIM:137960.0003
single nucleotide variant	NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	MPV17	Pathogenic/Likely pathogenic	2	27535377	27535377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341383,OMIM:137960.0005
single nucleotide variant	NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	EGR2	Pathogenic	10	64573173	64573173	G	A	criteria provided, single submitter	ClinGen:CA341431,UniProtKB:P11161#VAR_007738,OMIM:129010.0002
single nucleotide variant	NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	EGR2	Pathogenic	10	64573323	64573323	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA126845,UniProtKB:P11161#VAR_009874,OMIM:129010.0004
single nucleotide variant	NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	EGR2	Pathogenic	10	64573164	64573164	C	T	criteria provided, single submitter	OMIM:129010.0005,ClinGen:CA126847
single nucleotide variant	NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	TRPV4	Pathogenic	12	110238444	110238444	C	T	criteria provided, single submitter	OMIM:605427.0017,ClinGen:CA117193,UniProtKB:Q9HBA0#VAR_064521
single nucleotide variant	NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	TRPV4	Pathogenic	12	110222190	110222190	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117195,UniProtKB:Q9HBA0#VAR_064537,OMIM:605427.0018
single nucleotide variant	NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	GJB1	Pathogenic	X	70443744	70443744	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341598,UniProtKB:P08034#VAR_002047