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.611T>G (p.Leu204Arg)	LMNA	Likely pathogenic	1	156104291	156104291	T	G	criteria provided, single submitter	ClinGen:CA342817035
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966
Duplication	NM_000530.8(MPZ):c.600dup (p.Lys201fs)	MPZ	Likely pathogenic	1	161275942	161275943	T	TC	criteria provided, single submitter	ClinGen:CA658795552
Duplication	NM_003172.4(SURF1):c.870dup (p.Lys291Ter)	SURF1	Pathogenic	9	136218800	136218801	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA200831897,OMIM:185620.0005,OMIM:185620.0007
single nucleotide variant	NM_003172.4(SURF1):c.240G>C (p.Gln80His)	SURF1	Pathogenic	9	136221679	136221679	C	G	criteria provided, single submitter	ClinGen:CA375694714
single nucleotide variant	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2	Pathogenic	11	68675795	68675795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643380
single nucleotide variant	NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg)	TRPV4	Pathogenic	12	110226209	110226209	A	C	criteria provided, single submitter	ClinGen:CA386649807
single nucleotide variant	NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)	TRPV4	Likely pathogenic	12	110238434	110238434	T	G	criteria provided, single submitter	ClinGen:CA386655250
single nucleotide variant	NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu)	DYNC1H1	Likely pathogenic	14	102478782	102478782	G	A	criteria provided, single submitter	ClinGen:CA391059200