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_007126.5(VCP):c.2077C>T (p.Arg693Cys)	VCP	Likely pathogenic	9	35059144	35059144	G	A	criteria provided, single submitter	ClinGen:CA373273844
single nucleotide variant	NM_007126.5(VCP):c.278G>A (p.Arg93His)	VCP	Likely pathogenic	9	35067912	35067912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5039527
single nucleotide variant	NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)	SPTLC1	Likely pathogenic	9	94874834	94874834	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA373795895,OMIM:605712.0008
Duplication	NM_001370298.3(FGD4):c.2416dup (p.Gln806fs)	FGD4	Likely pathogenic	12	32791690	32791691	G	GC	criteria provided, single submitter	ClinGen:CA658658126
single nucleotide variant	NM_001376.5(DYNC1H1):c.1013A>G (p.Asp338Gly)	DYNC1H1	Likely pathogenic	14	102449407	102449407	A	G	criteria provided, single submitter	ClinGen:CA391012425
single nucleotide variant	NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)	DYNC1H1	Pathogenic	14	102461131	102461131	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA391033272
single nucleotide variant	NM_001376.5(DYNC1H1):c.6260A>G (p.Asp2087Gly)	DYNC1H1	Likely pathogenic	14	102476651	102476651	A	G	criteria provided, single submitter	ClinGen:CA391054152
single nucleotide variant	NM_001376.5(DYNC1H1):c.6271C>T (p.Arg2091Trp)	DYNC1H1	Likely pathogenic	14	102476662	102476662	C	T	criteria provided, single submitter	ClinGen:CA267002818
single nucleotide variant	NM_001376.5(DYNC1H1):c.7064C>T (p.Thr2355Ile)	DYNC1H1	Likely pathogenic	14	102481491	102481491	C	T	criteria provided, single submitter	ClinGen:CA391059865
single nucleotide variant	NM_001376.5(DYNC1H1):c.10348G>A (p.Glu3450Lys)	DYNC1H1	Pathogenic	14	102499756	102499756	G	A	criteria provided, single submitter	ClinGen:CA391024417