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_018972.4(GDAP1):c.754G>A (p.Ala252Thr)	GDAP1	Pathogenic	8	75276279	75276279	G	A	criteria provided, single submitter	ClinGen:CA4785196
single nucleotide variant	NM_001005373.4(LRSAM1):c.1348-1G>A	LRSAM1	Likely pathogenic	9	130251722	130251722	G	A	criteria provided, single submitter	ClinGen:CA5246953
single nucleotide variant	NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)	GDAP1	Pathogenic	8	75276228	75276228	C	T	criteria provided, single submitter	ClinGen:CA371549833
Deletion	NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)	LRSAM1	Pathogenic	9	130265089	130265100	CTGCTGCCAGCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657905
single nucleotide variant	NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)	GDAP1	Likely pathogenic	8	75275247	75275247	A	G	criteria provided, single submitter	ClinGen:CA179735330
Duplication	NM_003172.4(SURF1):c.759dup (p.Val254fs)	SURF1	Likely pathogenic	9	136218989	136218990	C	CT	criteria provided, single submitter	ClinGen:CA658657933
Duplication	NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs)	LRSAM1	Likely pathogenic	9	130263417	130263418	C	CGG	criteria provided, single submitter	ClinGen:CA658657903
Duplication	NM_003172.4(SURF1):c.32_38dup (p.Leu16fs)	SURF1	Pathogenic	9	136223291	136223292	C	CGCCCGCA	criteria provided, single submitter	ClinGen:CA658657935
single nucleotide variant	NM_018706.7(DHTKD1):c.1897-1G>A	DHTKD1	Pathogenic/Likely pathogenic	10	12148244	12148244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5408069
single nucleotide variant	NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser)	SPTLC1	Pathogenic	9	94809520	94809520	C	A	criteria provided, single submitter	ClinGen:CA373792546