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_001376.5(DYNC1H1):c.926G>A (p.Arg309His)	DYNC1H1	Pathogenic/Likely pathogenic	14	102446852	102446852	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204992
single nucleotide variant	NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln)	SPTLC1	Likely pathogenic	9	94809463	94809463	C	G	criteria provided, single submitter	ClinGen:CA276171
single nucleotide variant	NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)	DYNC1H1	Likely pathogenic	14	102505162	102505162	G	C	criteria provided, single submitter	ClinGen:CA207318
Deletion	NM_007254.4(PNKP):c.1386+49_1387-33del	PNKP	Pathogenic	19	50364800	50364816	AGGGGTCAGGGGAGGAGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251312,OMIM:605610.0004
single nucleotide variant	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2	Pathogenic/Likely pathogenic	1	12056215	12056215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279096
single nucleotide variant	NM_002437.5(MPV17):c.370C>T (p.Gln124Ter)	MPV17	Pathogenic	2	27535366	27535366	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320951
Deletion	NM_002437.5(MPV17):c.135del (p.Glu45fs)	MPV17	Pathogenic/Likely pathogenic	2	27535912	27535912	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA320803
single nucleotide variant	NM_003172.4(SURF1):c.589-1G>T	SURF1	Pathogenic	9	136219464	136219464	C	A	criteria provided, single submitter	ClinGen:CA325187
single nucleotide variant	NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	SURF1	Pathogenic/Likely pathogenic	9	136219563	136219563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA215067,UniProtKB:Q15526#VAR_076315,OMIM:185620.0017
Indel	NM_003172.4(SURF1):c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr)	SURF1	Likely pathogenic	9	136220737	136220739	GGT	AGG	criteria provided, single submitter	ClinGen:CA322599