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_000530.8(MPZ):c.302G>A (p.Trp101Ter)	MPZ	Pathogenic	1	161276644	161276644	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA	Pathogenic	1	156084713	156084713	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA	Pathogenic	1	156084780	156084780	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	LMNA	Pathogenic	1	156106031	156106031	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.497C>T (p.Ala166Val)	MFN2	Pathogenic/Likely pathogenic	1	12057376	12057376	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.752C>G (p.Pro251Arg)	MFN2	Likely pathogenic	1	12059088	12059088	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)	MFN2	Pathogenic	1	12071599	12071599	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	LMNA	Pathogenic	1	156084800	156084800	G	A	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.810+32_1323del	LMNA	Pathogenic	1	156104795	156106167	TGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTG	T	criteria provided, single submitter	-
Indel	NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)	LMNA	Pathogenic	1	156107002	156107003	TC	CT	criteria provided, single submitter	-