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_000188.3(HK1):c.1241G>A (p.Gly414Glu)	HK1	Likely pathogenic	10	71139827	71139827	G	A	criteria provided, single submitter	ClinGen:CA16618971,OMIM:142600.0006
single nucleotide variant	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1	Pathogenic/Likely pathogenic	10	71142311	71142311	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618972,OMIM:142600.0008
Insertion	NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)	SBF2	Pathogenic/Likely pathogenic	11	9805962	9805963	T	TATAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619420
single nucleotide variant	NM_021625.5(TRPV4):c.2401A>G (p.Lys801Glu)	TRPV4	Likely pathogenic	12	110222178	110222178	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619425
single nucleotide variant	NM_021625.5(TRPV4):c.946C>A (p.Arg316Ser)	TRPV4	Likely pathogenic	12	110236625	110236625	G	T	criteria provided, single submitter	ClinGen:CA16619426
single nucleotide variant	NM_001370298.3(FGD4):c.2587G>T (p.Glu863Ter)	FGD4	Likely pathogenic	12	32793342	32793342	G	T	criteria provided, single submitter	ClinGen:CA16619508
single nucleotide variant	NM_001376.5(DYNC1H1):c.3980A>C (p.Gln1327Pro)	DYNC1H1	Likely pathogenic	14	102466642	102466642	A	C	criteria provided, single submitter	ClinGen:CA16619824
single nucleotide variant	NM_001376.5(DYNC1H1):c.4235A>G (p.His1412Arg)	DYNC1H1	Likely pathogenic	14	102467531	102467531	A	G	criteria provided, single submitter	ClinGen:CA16619825
single nucleotide variant	NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	DYNC1H1	Pathogenic/Likely pathogenic	14	102469287	102469287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619826
Duplication	NM_025137.4(SPG11):c.5842dup (p.Ile1948fs)	SPG11	Pathogenic	15	44876035	44876036	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619929