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_004208.4(AIFM1):c.578T>C (p.Phe193Ser)	AIFM1	Likely pathogenic	X	129281495	129281495	A	G	criteria provided, single submitter	ClinGen:CA414587939
single nucleotide variant	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	AIFM1	Likely pathogenic	X	129270121	129270121	G	T	criteria provided, single submitter	ClinGen:CA414575358
single nucleotide variant	NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser)	AIFM1	Likely pathogenic	X	129281732	129281732	C	A	criteria provided, single submitter	ClinGen:CA414588706
single nucleotide variant	NM_004208.4(AIFM1):c.710A>T (p.Asp237Val)	AIFM1	Likely pathogenic	X	129274579	129274579	T	A	criteria provided, single submitter	ClinGen:CA414583508
single nucleotide variant	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1	Pathogenic	1	116927424	116927424	T	G	criteria provided, multiple submitters, no conflicts	OMIM:182310.0001
single nucleotide variant	NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	ATP1A1	Pathogenic	1	116937869	116937869	C	G	criteria provided, multiple submitters, no conflicts	OMIM:182310.0002
single nucleotide variant	NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	ATP1A1	Likely pathogenic	1	116937869	116937869	C	A	criteria provided, single submitter	OMIM:182310.0003
single nucleotide variant	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1	Pathogenic	1	116937846	116937846	T	C	criteria provided, single submitter	OMIM:182310.0004
Deletion	NM_004373.4(COX6A1):c.247-7_247-3del	COX6A1	Pathogenic	12	120878247	120878251	TCACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA170855,OMIM:602072.0001
single nucleotide variant	NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	DHTKD1	Likely pathogenic	10	12139779	12139779	T	G	criteria provided, single submitter	ClinGen:CA130364,OMIM:614984.0004