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_004208.4(AIFM1):c.469G>T (p.Ala157Ser)	AIFM1	Likely pathogenic	X	129281732	129281732	C	A	criteria provided, single submitter	ClinGen:CA414588706
single nucleotide variant	NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)	TRPV4	Likely pathogenic	12	110222180	110222180	C	T	criteria provided, single submitter	ClinGen:CA386648807
single nucleotide variant	NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	PMP22	Pathogenic	17	15134268	15134268	C	A	criteria provided, single submitter	ClinGen:CA398739500
Deletion	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA	Likely pathogenic	1	156100515	156100529	AAGCGCACGCTGGAGG	A	criteria provided, single submitter	ClinGen:CA645372476
single nucleotide variant	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA	Pathogenic	1	156104999	156104999	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342817513
Deletion	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Pathogenic	1	156105005	156105010	GAGGAAC	G	criteria provided, single submitter	ClinGen:CA645372479
single nucleotide variant	NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	LMNA	Likely pathogenic	1	156105872	156105872	A	T	criteria provided, single submitter	ClinGen:CA342820510
single nucleotide variant	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA	Likely pathogenic	1	156106010	156106010	G	C	criteria provided, single submitter	ClinGen:CA342820778
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
single nucleotide variant	NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)	DYNC1H1	Likely pathogenic	14	102476324	102476324	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA391053203