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.898G>A (p.Asp300Asn)	LMNA	Pathogenic/Likely pathogenic	1	156105065	156105065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018826
single nucleotide variant	NM_170707.4(LMNA):c.937-11C>G	LMNA	Pathogenic	1	156105681	156105681	C	G	criteria provided, single submitter	ClinGen:CA018858
Deletion	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA	Pathogenic	1	156084801	156084803	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018871,OMIM:150330.0050
single nucleotide variant	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA	Pathogenic	1	156084807	156084807	A	G	criteria provided, single submitter	ClinGen:CA018931,UniProtKB:P02545#VAR_039751
single nucleotide variant	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA	Likely pathogenic	1	156084808	156084808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018946,UniProtKB:P02545#VAR_039750
single nucleotide variant	NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)	NAGLU	Pathogenic	17	40689535	40689535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220553
single nucleotide variant	NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595
single nucleotide variant	NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)	TRPV4	Pathogenic	12	110234443	110234443	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347755
Deletion	NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)	TRPV4	Pathogenic/Likely pathogenic	12	110232211	110232213	TAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347802,OMIM:605427.0016
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