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_016156.6(MTMR2):c.826G>T (p.Glu276Ter)	MTMR2	Pathogenic	11	95583005	95583005	C	A	criteria provided, single submitter	ClinGen:CA340529,OMIM:603557.0003
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
single nucleotide variant	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2	Pathogenic	19	10904505	10904505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118661,UniProtKB:P50570#VAR_031962,OMIM:602378.0007
single nucleotide variant	NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	DNM2	Pathogenic/Likely pathogenic	19	10934538	10934538	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172110,UniProtKB:P50570#VAR_039042,OMIM:602378.0010
single nucleotide variant	NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)	DNM2	Pathogenic	19	10934538	10934538	C	G	criteria provided, single submitter	ClinGen:CA254140,UniProtKB:P50570#VAR_039043,OMIM:602378.0011
single nucleotide variant	NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	DNM2	Pathogenic/Likely pathogenic	19	10904475	10904475	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA248603,UniProtKB:P50570#VAR_068425,OMIM:602378.0012
single nucleotide variant	NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)	RAB7A	Pathogenic	3	128525419	128525419	C	T	criteria provided, single submitter	ClinGen:CA219656,UniProtKB:P51149#VAR_018722,UniProtKB/Swiss-Prot:VAR_018722,OMIM:602298.0001
single nucleotide variant	NM_004637.6(RAB7A):c.484G>A (p.Val162Met)	RAB7A	Pathogenic	3	128526470	128526470	G	A	criteria provided, single submitter	ClinGen:CA219662,UniProtKB:P51149#VAR_018723,UniProtKB/Swiss-Prot:VAR_018723,OMIM:602298.0002