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_030962.4(SBF2):c.1053+2T>C	SBF2	Pathogenic	11	10015466	10015466	A	G	criteria provided, single submitter	ClinGen:CA379638139
Deletion	NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)	SBF2	Pathogenic	11	10022499	10022568	CCAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA	C	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.619+1G>A	SBF2	Likely pathogenic	11	10049998	10049998	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.548T>A (p.Leu183Ter)	SBF2	Pathogenic	11	10050070	10050070	A	T	criteria provided, single submitter	ClinGen:CA379646027
Deletion	NC_000011.10:g.(?_9780408)_(10042991_?)del	SBF2	Likely pathogenic	11	9801955	10064538	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_10193902)_(10193987_?)del	SBF2	Pathogenic	11	10215449	10215534	na	na	criteria provided, single submitter	-
Deletion	NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)	SBF2	Pathogenic	11	10315596	10315597	AGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys)	DNM2	Likely pathogenic	19	10904424	10904424	G	A	criteria provided, single submitter	ClinGen:CA339654
single nucleotide variant	NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)	DNM2	Likely pathogenic	19	10904473	10904473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620726
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