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
Indel	NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)	HSPB1	Likely pathogenic	7	75933394	75933395	GC	CT	criteria provided, single submitter	ClinGen:CA16612413
Deletion	NM_018972.4(GDAP1):c.786del (p.Phe263fs)	GDAP1	Pathogenic/Likely pathogenic	8	75276308	75276308	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612462
single nucleotide variant	NM_006096.4(NDRG1):c.205+1G>A	NDRG1	Pathogenic/Likely pathogenic	8	134276789	134276789	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612479
single nucleotide variant	NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)	LRSAM1	Pathogenic	9	130265086	130265086	T	C	criteria provided, single submitter	ClinGen:CA5247259
Deletion	NM_018972.4(GDAP1):c.311-1790_408del	GDAP1	Likely pathogenic	8	75270580	75272467	CATTACTTGGACCTTTTGGGAAGCATTTGAAAATGTACTATTTAGGGTTATTAGCCTGAGGTTCTTGGACCCCTAAAGCATTAGTTCTTAAACTTTTTGGTCTCTATACCCCTTTGTCTTTGAGGATACCAGAGAGCATTTGTTTATGTGGATCATAGCTATCAATATTTACCATTTAGAAAGCAAAACTGAGAAAACTTAAAATATTAGCCTGGTTAAGCACAATCCCACTAGCTGTCAGAGTGATAGAGTCATGTTTCCTGTAGCCTCTGGAAACTTCTACTGTACACTTGAGAGAGAATAAGAGTGAAAAAGTAATTAACGTCTTAGTATTTCTATAAAAATATCTTTGTAGATCCCCCAAACATGTTTTAGGAAAACCCAGGGATCCTCAGACCATAGTGTGAGAACTGTTGCGCTTAGGGGTTTATGAATAGAATTCAGGAGATTTGAGATCTTGGATAGGGAATAATTGTATCTCTATTTAAAGGAATTATTTCCTTCCATTAGCAATGTAGGCACAATCCATGGCAATATCAGGAGTGCTTCTGGCTTTGATAACCAATAGAACTCACAGATATGTTCATGGTTAAGTTATTGCAGATATCTTAATATTTTGAAATTGTGATAGTTATTAGACCTGACATTTTTTAGGGACAGTTTGACAGCCAGAGATAGGAAGAGATTCTGAAGGGACATAGCCCTGACCTTTGGGTTGCATCCTTCACTTTTATTCTTTTTCGATAGTCTATGAAATGAAAATCCTTTGAAAATGTTATGATGGTATAATCAAAGAGAACATTACATTAGGAATCAGATGACTTTAGTTCTAGCTCTGCCTCTAATTAGCTGTGGGATCTTGGGAGAAATTTTCAGCCCTTGTATCTGAGTGTACATGTTAACTCCTGCAGCACTTCTCCAGCTCAAGTAATCTATATAATAATTGGAAATTTTGGAATGTATTCATTGTAATTTATTAAACACCTACTACATGTCAAACATTATACTAGGCACTGGGGATTTAACAGAGAGCAGTACATGGTCCCTGCCCTCAAGGACTCTACAGTTTGGATTTTAACTAGCAAATAAGGATGTATGTAGAACCCACTTTCCAGAGATAATTGTTAGAAATTCCTGGGGAAAGTGCACCTGCGATATTTGAGCAAAGGCCTTTCCTGTTCCATATAGATTGTCATTCACATTCACATGTGTCAGTAGGGTCACTCTTGATGTTGGTTGGCACCTAGAAAAGAGTAGCCCCTGATTATCTTTCCATAATGAGCCCTCATTCAATTAACCAAACTTTATTGAGGGCCTCAAGTGTGTGGAGAACTGTGCTAGACTCTGGATTGCAGGTTCCTTTCCCTGAAGACAGTCATGGGGAAAAAAGATGCAATGAATTACAGTGTGATAAGGGCTGTAACAGAGTGTGTGTAATGTGTTATGGATGTATAGAAGAAGGCACATGTGAGCCAGTCAGATGTTGGCAGTTGTAGGAGGTTAGGGAATGCTTCATGGAATAAATGGCATAAATAACTGGGCCTTGAGGGCTGAGTGCAGTTTGCAAGGTGAAGAAATGAGAGAATACCAATGTGATTATGGTTTGGGATCTTGTCTGGTGCATCAGGCCATTTCAAACTTTGAATGAATGTCTGAGGTGAGGAGACAGTGTTTTTTGAATATACAGATATGTTGAAAATGTTAATGATGAGTGGATAGTGTTTTTGTTTTGCTTTTGAGTGTAACAACTCATGTGTAACTTTTTCTTCAATATTTGTGTGTGTGTATTTTAGAAAGAACACCCAGGTTAATGCCTGATAAAGAAAGCATGTATTACCCACGGGTACAACATTACCGAGAGCTGCTTGACTCCTTGCCAATGGATGCCT	C	criteria provided, single submitter	ClinGen:CA16612645
single nucleotide variant	NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)	EGR2	Pathogenic	10	64573163	64573163	T	C	criteria provided, single submitter	ClinGen:CA5517167
Deletion	NC_000011.10:g.(?_10193902)_(10193987_?)del	SBF2	Pathogenic	11	10215449	10215534	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.5037+1G>A	SBF2	Pathogenic	11	9809180	9809180	C	T	criteria provided, single submitter	ClinGen:CA16613472
single nucleotide variant	NM_030962.4(SBF2):c.2536+1G>A	SBF2	Pathogenic	11	9875086	9875086	C	T	criteria provided, single submitter	ClinGen:CA16613653
single nucleotide variant	NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)	FGD4	Pathogenic	12	32778681	32778681	C	T	criteria provided, single submitter	ClinGen:CA6506992