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_007254.4(PNKP):c.1029+1G>A	PNKP	Likely pathogenic	19	50365627	50365627	C	T	criteria provided, single submitter	ClinGen:CA406880460
single nucleotide variant	NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)	AIFM1	Likely pathogenic	X	129281495	129281495	A	G	criteria provided, single submitter	ClinGen:CA414587939
single nucleotide variant	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	LMNA	Likely pathogenic	1	156085016	156085016	C	T	criteria provided, single submitter	ClinGen:CA342808718
single nucleotide variant	NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	LMNA	Likely pathogenic	1	156105881	156105881	T	C	criteria provided, single submitter	ClinGen:CA342820546
single nucleotide variant	NM_000530.8(MPZ):c.309G>T (p.Gly103=)	MPZ	Pathogenic/Likely pathogenic	1	161276637	161276637	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA421405234
Indel	NM_003172.4(SURF1):c.771_773delinsG (p.Pro258fs)	SURF1	Likely pathogenic	9	136218976	136218978	GGT	C	criteria provided, single submitter	ClinGen:CA645369418
Indel	NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	IGHMBP2	Pathogenic	11	68675648	68675659	GGCAGTCAGCTG	ATGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369513
single nucleotide variant	NM_001376.5(DYNC1H1):c.1793G>A (p.Arg598His)	DYNC1H1	Likely pathogenic	14	102452355	102452355	G	A	criteria provided, single submitter	ClinGen:CA391019368
Deletion	NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs)	PNKP	Pathogenic/Likely pathogenic	19	50365641	50365654	TGGGAGCTCGAAGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA633895320
single nucleotide variant	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	AIFM1	Likely pathogenic	X	129270121	129270121	G	T	criteria provided, single submitter	ClinGen:CA414575358