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_003172.4(SURF1):c.107-2A>G	SURF1	Pathogenic	9	136221814	136221814	T	C	criteria provided, single submitter	ClinGen:CA215065,OMIM:185620.0016
single nucleotide variant	NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	VCP	Likely pathogenic	9	35065271	35065271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213386,UniProtKB:P55072#VAR_076467,OMIM:601023.0010
single nucleotide variant	NM_007126.5(VCP):c.290G>A (p.Gly97Glu)	VCP	Pathogenic	9	35067900	35067900	C	T	criteria provided, single submitter	ClinGen:CA213389,UniProtKB:P55072#VAR_076464,OMIM:601023.0011
single nucleotide variant	NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	MORC2	Pathogenic	22	31337490	31337490	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249695,UniProtKB:Q9Y6X9#VAR_076458,OMIM:616661.0001
single nucleotide variant	NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)	MORC2	Pathogenic	22	31345795	31345795	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251315,UniProtKB:Q9Y6X9#VAR_076454,OMIM:616661.0002
Deletion	NM_170707.4(LMNA):c.91_93del (p.Glu31del)	LMNA	Pathogenic	1	156084798	156084800	CAGG	C	criteria provided, single submitter	ClinGen:CA277863
single nucleotide variant	NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)	SH3TC2	Pathogenic/Likely pathogenic	5	148442585	148442585	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA339657
Duplication	NM_006096.4(NDRG1):c.389+92_594+1717dup	NDRG1	Pathogenic	8	134265064	134265065	G	GGGGACTCTATTCCCCTCGTACACTCGCCAACTCCAGAGTGGGGCCTCTATTGCCCTCGTACACTCGTCAACTCCAGAGTGGGGCCTCTATTCCCCTGGTACACTCGTCAACTCCAGAGTGGGGCGTCTGTTCCCCTGGTGTACTCGCCAGCTCCAGAGTGGAGGCTGTGTCCCCAGGACTCATGGGAGTGTCAGATGGTCACACATGTTAGCTCAGAAGCAGACAGTGGTATGTAAGCAAAGCAGGTCACTGCAATTTCAGGCAACCAAGGGGTTTTCCAGACCCTGGGCTTGCAACCAAGCCCATGGCATACCCTTCCCGAGGGTAGCTGGCCCCAGCTAGAGACACAAAACCAGTGTCTGGGGCCAGGCAGGCTGGGCTGATAAGATGACTGCTCACTTCTAGCATGCTGTGAGGGGCTTGGCTCAATCCCCTTTAGTGGGGTAACTCTGCAGAAGAGCAGCTCATCTCAGAGCCAGGCAGCAGCACAGGCAGCCGCCATCCTGCTGTGGTGACCAGAATGAAGCCAGATTCATAGGTTCTAATACCGGCCCCACCTCTCCCTGGTTGAGACCCTATGCAAGTCACTCAACCTCTCTGGTCTGTTTCCTCTTCCATAAACTGGGAATGAGAACAGAATTTATCACACAGGTCACAGAGCACCTGGGTGGAATCCTATTCCTATAGTTAACACTTGTGAAGCTCTTAGGACTGAGCCCAGCCCAGCACACAGCTAACTCCACGGACATGTTTGCTACTGACCAGATTTATAACAGCCCAGAACTGGGAACAACTCAAAGGTCTTATCAACAGGTGAATGGAAAAACAAACTGTTGCACATACATAAAATGGAATACTTCTCAGCACTAAAAAGGAATAAACTTTTTTTTAAGAGACAGGGTCTCTCTGTCACCTAGGCGGAATACAGTGGGCTATCCCAGCTCACTGCTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTATAGGCATGCAGAACCACCATGCCTGGCCAATTTTTAATTTTTCTGTAGAGACAAGGTGTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGGATTATAGGAATGAGCACTGCACCCCGACTAGGAATAAACTATTGATCCACTCATTAACATGGACAAATCTCAAAATGGTTATGCTGAGGGAAAGAAGCCAGACCAAAAAAAAAAAAAAAAGAGTACCTACTATATAATGCCATTTATATAAAATTCTAGGAATTGCAAAGCAATCTATAGAGGCCAATGCTGATCAGAAGTTGCCTGAGGAGGAGGGAGAGGAGGACTATCAAGGGGCACAAGGAAACTCTTGGAGTGATGGAGACGTTATTCTCCTGATTACAGGGATGGTTTTACAAATGTATATGCATGTCAATTGTACACTTTAAATATGTGCAGTTAATTGTACTTCAATCAGCTGTTTTTAAAAGACACATAAAAAAGAGAGAGAATGAATGACTTGTTGCTTATGAATGAATAATGTCACATTATCTCATGAGCACCAGCTCGGTGGCCCCCAGTTGATTGTGTCTTGTTCTCTCCACCCCCACATGGGGCCCTGTGCTGAGCACCACACAATGCCTTGCTCAGCAGGAACAACAGATTTGCCAGACCACGCAACTCACCTTCCCAAAAAGGTGGGACACCACCATGTCCGGCAGAGCTTGGGTCCATCCTGAGATCTGGAAAGGAGTAAAGTGGGTGGATGAGAAACCAGGAGCTAACAGTAGTTAACAAGGTCAGCAAAACCCCACTTCCCTGGGTGCAGGGTGGCATTGCTGGACTCCCCCCTACATGCAGGCCTCAAGGACATCCCCCTTGATAGAAACTCAGTTCCTGTCTCCAGTTCCCTCCTGGACCTGATCCCCCAAATGCAGGGCCTGGGACTATATCCAGTTCCTTATTTTCAGAGGCCCATGCACAAGATGCACAGCAAATAAGTGCTGAATAAAGACCCAGCTACTGCTAGCTTACCCTGCTCCAAACATTCACCAAGTCCTCAGCAAAGAGGGCCATCCATTCACCTCTTCTAAAAACACACTGAGCTCCCCAGTCTATACCCCAAGATATGCTTGGCTCCCAACTATCCCTCCTCTCTCATCTCCAAGCCAGTTTCCCCTTTCTAAGTATACTGATATTACCAAAGACACTGACAATCTTCTTTTCCTACCTCTCCCCAGTGACTAGGTTTGCAGCAGGAGCTCTATAAGTCCTAGTATACAGCAGAAGCTCCATAAATGTGTGCTGACCTAAGCATTAGGCAAAAATGAGTAGGAGAGAAGCTCTAGACCTAAGGGTCTTTGGCTGGCCCTTGCCTGCCACAGCCTAGCTGTGTGGCACTGGGCAGTCTGCATACCTCTGGGTCTCAGACTTCTAATCTGGAACTGGGAGTGCCAGGAACTTCAAGGCCACAAGGTCAAGGGAAGGACTGCAAGAAGTAACTGCACACATCACAGTATCTAATACCAATGCCTGGTAATCGAAAGGCTGGAGTTGAAAAAGAAGGGAATAGTACAGCTATTAAAGCTGTACTGAAGGGAATAGTACAGCTATTAAAGACAATCCTCAGGCTTCACATTAGCCAGTGGTCGACATCCCCAGACCTTCGAGTCTCACTCAGGACAGCTATCATGAAGCCCAGCGGGTTGACTGGAATGTCACTTCCTTTGCTGGAAAATCAAATAAAAAACAGGGAGTGTGTTCCACTCCAGAACGTCATACAGGCTGGACGGAAGGGCTCCTGCATTCTGGAGGAATGTTCAAAGAACAAATGCAAAATCACAGTGGCTGGTACAGGGCAGGGGATGGGGCAAGAGGCAGGGCCCCTTCAAACCATCGGTCCCTGGCAGCCACCCAAAATTGGGCAAAAATGCACTTGCAGAATGAGAAGCTGCGATCACCTCAGCTTGAAAGACTCTGTCCTATTTCAACTGGAATGACCTCCCCCTCTCCTTGGCCAACACTGAGGCCTTTACAGGGAAAAAAACAAAAACAAAAACACCACAATGATAATTTTTAAAAGATAAACAAGGAACCTTAGGACACCAGCCAGGACAGAGCTTCCCAAGACAGCACAGGTCCCTTCTCCTCCAGGCAGCCTACCCTGCTTGCCAGGCCTGCCTGTCTCCCACCCTGGACAGGAGCCCCAGGGGCACGGGTGGTCAGGTCCACGAACCACAAAGTCAAAGCAAGCTGCATCCAGTCCCCGTTCTACTGCCTAGCTTTATGTGACCCTGGACAATCCCCTTAGCCACACCGAGTCCTTACCTCTGAAACGGTGATAAAAATTCTCACCTCCTAGAGTTACTATGAAGATTAACTGAGATCATGCACACACAGCAACGTAGAATGAAACTAGCACATGGTAAACTCTCAATCTACGTTAGCTAATTATTATCGTAAAATTCTGTGGCACAGTCCGTACTAAATACATATTTATTTTTCTTTAATAATATGTGAATGGATTCCTAAGATTCATTCCTAGAGGCTTTTGTCTTGTTCATCTCAAGAAGTCTTGTTCTTCAAGATGCTCAGCATCTTGACCAAAGCCTGGCACAAGTTATGTACCCAGCTAATACTCATTAATCCAAGCAATGCTTCTCCAAGCTGCCTCAGGGACCTGTGTCCCAGTGCTTTCCCTGGCTTAGACAGCTTGGTGGTATTTAAGTCTTCTGAATGGCAAACGGCTGAGGTCATGTGTACTGTTCTAAGTAAAGCAGAGGGAACTGGAGTGGGCAGTAGAGGGTAGTGGAGGAGTGGGTAAAGAGAGAGCTCGTAGCTCCAGGGATCCCCCAGGCAGAGGCTGTGTGCACCTGTCCCTCTTCTTGCAGGGATCCCGCCGGCCTGACAGGCCCCCACCTCACCTTGGAGGCGGCCCAGTCCATCCAGCCTTCCGCACAAGGGTTCACGTTGATAAGGACAAGGCCCTCCACCATCTCAGGGTTGTTTAGCTGCAATTCAAGACACAAAGTGAGACAGACATCCCAGCAATCTGAAACACTAGGAACTTTCCAAGGCAAACCAAAGCTTGAGAGAAGTACCCAGAAAAAGGCAGTGTGGGCAGCAGAGCAGGCTGCTGCTCCCCGGCCCCACCCCATGCAAAACTGAGGTTCCAGCACAGCAGACACGGTATCGGGTCCTAGAGAGAGTGGGAAGGAGAAAGAGGAAGTGCAGGAGAAGTAGGAAGCCCGCTGCTTTGCAGGCCTGCCTTGGGCAAGTCACTTCAACCCACGGAGGCTCAGCTTCTCCAGCTATCAAATGGGTGTAACACACCATCGACCTCATCAATCAAACAAGGCGCACAGCACAAATGCTCTCTAGTTGTGGCAGTAACAACTGTATTACTTACTTCCAGGATAAACACATGCATACACACACACACACACACACACACACACACACACAGAGAGAGAGACAGAGTTATGCATCGCTGAATAACAGGGATACTTTCTGAGAAAATTCATCATTAGGAGATTTTGTCATTGTGTGAAGATCTCAGAGTATACTTACACACACCTAGACAGTATAGTCTACAACTCACCAAGGCTGTATAGAACAGCCCTTTGCTCCTAGGTTTGCTGTACAAACCTGTACAGCATATGACGCTACCCAATACTGCAGGGAATTGCAACACAATGCTAAGTATTGATGTATCTAAGCAAATCTAAACATAAAAATGGTACAGTAAAAATGAACCATTATAATCTTATGGAACCACTGTCAAATGTGCAGTCTGTCATTGACCAAAATGTCATTATGTGATGCAGATACATACAGATATAGATATGTACACCTGGGGTACAGTTGAGACCATTTTTAATTTGCTGAGAGCCTATATGGCCAGACCATTTTGTATTCATGTCAGCATTCCTTTCTTTTTTTTGTAAGATGGATGTTGTAGAATCATGTCAGTATTCCCAACCTCCAGCAAAGCCCAGCAAATAATAGGTAGTCAAAATACCAATGGATGTACAAAATGAGTATTGTTGCATTCTTACACAATTGCTCGGTGAGGATACAAAGGAACAGTGGCTCTTGACCTGAGCCCAGAGAAATAACAATGACAACTGTCATGAAAACTTCCCGTGTCTGATTCTAGTTTAGAATCAGTTATGACCCAGGAGTGCCCTGACTACAAAAACCTGTACAGCTGTTACAAAGCAGTGTCATAGCAGAGTACTCAGTGAGTGAGGAGCGTCCTCACTAGATGGCTAAGCGGACAAAGCCCATGACAAAGGAATGTGTCCAGTATCATCCTTGAGTGGAGGAAGAGAAAAGGCTGTGAGTATATATATATACGAGTACCCATGCACCACACACACACACACACACAACTGTGGAGAATACGGGTCATTTCTTTTTCCCTTTTGGGTTTTTGATGCTTTTCCAATGTCTTCCTTCATCTTAAAATGTTATTTAAAATGCGATTTTCAAAAAATGCCAAAGCACTCACAGCAAATCGAGTTAGGATGTAGGCGCCTGCTCCTGTTCCCATGCCAATAATGCTTTTCAGCCTGGAAGCAAAAATACAAATGCATGTCACACAAGGACAGAGTGACGGGAGCCTCCAAGGACCCACTTAGAACTTCCTGAGGGTGACCGCCTGGCTAGGCAATGCGGGAGCATGCTGCCGTAACTGCCTGCACAGCTCTGAGGTCACCATGCTTTAGGACTGGACAGAGACCTCGACCTTGGAGAGCCGCGCCCCTTCTCCTCACTTCCCTCCTGGCCGCCACCCAGGCTCTGAGAGACCGTCTGACATTTACGGGAAGGCCCGTTACGGCATCATTTCTTCCCACTCTTAAGCTTTATTTTGGATTCTAAAACTTGGAATGAAAACAAATTGAGCAAGAACCATGAAGTTATCATTCTTTGAAGAGCTCAAGACAGAGAGGAACACTGGAAAAATGAGGGTGTGGAGAGAAAAGCTAAGGACTCAGGCAACTCCATTCCAGAACATTCCATGGGAAAGAGAAGGGAATGGAAGAACAGGAGGCAAGAGCAAATGGGTGGGGCAGCTGCCATCATGCAATATAACATTCACGCAAGAGGAAAACTGAAGTTAGAGGAGACAGACTAGAGCTCAGAGACTGTGTGAAGAACAGTGTTCACAGAGTGACGAGCTAATTTCTTGCCTCATCTCTAAATTGCAACCTTAATTTTA	criteria provided, single submitter	-
single nucleotide variant	NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys)	DNM2	Likely pathogenic	19	10904424	10904424	G	A	criteria provided, single submitter	ClinGen:CA339654
single nucleotide variant	NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)	MFN2	Likely pathogenic	1	12059056	12059056	C	A	criteria provided, single submitter	ClinGen:CA349675