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_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)	TRPV4	Likely pathogenic	12	110230208	110230208	G	T	criteria provided, single submitter	UniProtKB:Q9HBA0#VAR_064531,ClinGen:CA347704
single nucleotide variant	NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr)	TRPV4	Likely pathogenic	12	110236579	110236579	A	G	criteria provided, single submitter	ClinGen:CA347702,UniProtKB:Q9HBA0#VAR_064523
single nucleotide variant	NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)	NEFL	Likely pathogenic	8	24813236	24813236	T	C	criteria provided, single submitter	ClinGen:CA233082
single nucleotide variant	NM_014845.6(FIG4):c.290-2A>T	FIG4	Likely pathogenic	6	110048310	110048310	A	T	criteria provided, single submitter	ClinGen:CA270675,OMIM:609390.0015
single nucleotide variant	NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)	DNM2	Likely pathogenic	19	10904527	10904527	T	A	criteria provided, single submitter	ClinGen:CA172095
single nucleotide variant	NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)	DNM2	Likely pathogenic	19	10922949	10922949	A	G	criteria provided, single submitter	ClinGen:CA233294,UniProtKB:P50570#VAR_068368
single nucleotide variant	NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)	DYNC1H1	Likely pathogenic	14	102463410	102463410	G	T	criteria provided, single submitter	ClinGen:CA185910
Deletion	NM_025137.3(SPG11):c.(?_-1)_3520+?del	SPG11	Likely pathogenic	15	44898223	44955846	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	AARS1	Likely pathogenic	16	70310960	70310960	T	G	criteria provided, single submitter	ClinGen:CA199541,UniProtKB:P49588#VAR_073719,OMIM:601065.0003
single nucleotide variant	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA	Likely pathogenic	1	156084773	156084773	T	G	criteria provided, single submitter	ClinGen:CA018394