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_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln)	DYNC1H1	Pathogenic	14	102499473	102499473	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA143960,UniProtKB:Q14204#VAR_070587,OMIM:600112.0008
single nucleotide variant	NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	DYNC1H1	Pathogenic	14	102498756	102498756	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA143961,UniProtKB:Q14204#VAR_070586,OMIM:600112.0009
single nucleotide variant	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Pathogenic/Likely pathogenic	1	156104600	156104600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018372,UniProtKB:P02545#VAR_039768
single nucleotide variant	NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	NEFL	Pathogenic	8	24811293	24811293	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217487,UniProtKB:P07196#VAR_021614,OMIM:162280.0010
single nucleotide variant	NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)	NEFL	Pathogenic	8	24814007	24814007	G	T	criteria provided, single submitter	ClinGen:CA217534,UniProtKB:P07196#VAR_016019
single nucleotide variant	NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	NEFL	Pathogenic/Likely pathogenic	8	24814007	24814007	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217536,UniProtKB:P07196#VAR_016020
single nucleotide variant	NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)	NEFL	Pathogenic	8	24814007	24814007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA217537,UniProtKB:P07196#VAR_016018
single nucleotide variant	NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)	NEFL	Pathogenic	8	24813762	24813762	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217539,UniProtKB:P07196#VAR_016022
single nucleotide variant	NM_006158.5(NEFL):c.803T>C (p.Leu268Pro)	NEFL	Pathogenic	8	24813227	24813227	A	G	criteria provided, single submitter	ClinGen:CA217579
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479