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_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)	DNM2	Pathogenic	19	10934544	10934544	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA172112,UniProtKB:P50570#VAR_068371
single nucleotide variant	NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)	DNM2	Pathogenic/Likely pathogenic	19	10934562	10934562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA172114,UniProtKB:P50570#VAR_068373
Deletion	NM_007254.4(PNKP):c.1295_1298+6del	PNKP	Pathogenic/Likely pathogenic	19	50365023	50365032	ACGCTACCTGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251143
single nucleotide variant	NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)	DYNC1H1	Pathogenic	14	102446717	102446717	G	T	criteria provided, single submitter	ClinGen:CA346108,UniProtKB:Q14204#VAR_073156
single nucleotide variant	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Pathogenic	11	68673588	68673588	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346109,OMIM:600502.0010
single nucleotide variant	NM_170707.4(LMNA):c.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
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_170707.4(LMNA):c.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
Deletion	NM_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA	Pathogenic	1	156084710	156085065	na	na	criteria provided, single submitter	-