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
Deletion	NM_003172.4(SURF1):c.532_535del (p.Asn178fs)	SURF1	Pathogenic	9	136219602	136219605	CTATT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042768
single nucleotide variant	NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	DYNC1H1	Pathogenic	14	102452889	102452889	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042831
single nucleotide variant	NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)	DYNC1H1	Likely pathogenic	14	102474582	102474582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042839
single nucleotide variant	NM_001376.5(DYNC1H1):c.1869C>G (p.Phe623Leu)	DYNC1H1	Likely pathogenic	14	102452431	102452431	C	G	criteria provided, single submitter	ClinGen:CA16042868
single nucleotide variant	NM_001005361.3(DNM2):c.1565G>T (p.Arg522Leu)	DNM2	Likely pathogenic	19	10922947	10922947	G	T	criteria provided, single submitter	ClinGen:CA16043072
single nucleotide variant	NM_007254.4(PNKP):c.1188+1G>A	PNKP	Likely pathogenic	19	50365300	50365300	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043208
single nucleotide variant	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)	MPZ	Likely pathogenic	1	161275714	161275714	A	C	criteria provided, single submitter	ClinGen:CA16043363
single nucleotide variant	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68685249	68685249	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153462
single nucleotide variant	NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)	DYNC1H1	Pathogenic/Likely pathogenic	14	102478787	102478787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043479
single nucleotide variant	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1	Pathogenic/Likely pathogenic	X	129271109	129271109	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043577,OMIM:300169.0015