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_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68704310	68704310	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704543	68704546	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)	SBF2	Pathogenic	11	10014638	10014638	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)	DYNC1H1	Likely pathogenic	14	102449589	102449589	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.1808A>T (p.Glu603Val)	DYNC1H1	Likely pathogenic	14	102452370	102452370	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)	DYNC1H1	Pathogenic	14	102452396	102452396	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.170T>C (p.Leu57Pro)	INF2	Pathogenic	14	105167872	105167872	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.230T>C (p.Leu77Pro)	INF2	Pathogenic	14	105167932	105167932	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.230T>G (p.Leu77Arg)	INF2	Likely pathogenic	14	105167932	105167932	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.341G>A (p.Gly114Asp)	INF2	Pathogenic	14	105168043	105168043	G	A	criteria provided, single submitter	-