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_170707.4(LMNA):c.784G>T (p.Glu262Ter)	LMNA	Likely pathogenic	1	156104740	156104740	G	T	criteria provided, single submitter	ClinGen:CA018633
single nucleotide variant	NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	LMNA	Pathogenic/Likely pathogenic	1	156104755	156104755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018657
single nucleotide variant	NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	LMNA	Likely pathogenic	1	156105030	156105030	C	G	criteria provided, single submitter	ClinGen:CA018775
single nucleotide variant	NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA	Pathogenic/Likely pathogenic	1	156105704	156105704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018878,UniProtKB:P02545#VAR_039775
Deletion	NM_170707.4(LMNA):c.958del (p.Leu320fs)	LMNA	Pathogenic	1	156105713	156105713	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018896
single nucleotide variant	NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	LMNA	Pathogenic	1	156105716	156105716	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018909
single nucleotide variant	NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)	GDAP1	Pathogenic	8	75272528	75272528	C	G	criteria provided, single submitter	ClinGen:CA263216,OMIM:606598.0017
single nucleotide variant	NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	GDAP1	Pathogenic/Likely pathogenic	8	75272429	75272429	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA263218,OMIM:606598.0018
Deletion	NM_014845.6(FIG4):c.831_838del (p.Lys278fs)	FIG4	Pathogenic	6	110062701	110062708	AGTAAATTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA143924,OMIM:609390.0011
single nucleotide variant	NM_002972.4(SBF1):c.1249A>G (p.Met417Val)	SBF1	Pathogenic	22	50903513	50903513	T	C	criteria provided, single submitter	ClinGen:CA143927,OMIM:603560.0001