シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)	LRSAM1	Pathogenic	9	130263327	130263328	G	GC	criteria provided, single submitter	-
Duplication	NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)	LRSAM1	Pathogenic/Likely pathogenic	9	130263394	130263395	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser)	LRSAM1	Likely pathogenic	9	130265125	130265125	C	T	criteria provided, single submitter	-
Duplication	NM_003172.4(SURF1):c.281dup (p.Leu94fs)	SURF1	Pathogenic/Likely pathogenic	9	136221555	136221556	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)	DHTKD1	Pathogenic/Likely pathogenic	10	12160801	12160802	CAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2	Pathogenic	11	68673583	68673583	CG	C	criteria provided, single submitter	-
Deletion	NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)	MTMR2	Pathogenic	11	95574803	95574806	ACAGT	A	criteria provided, single submitter	-
Deletion	NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)	MTMR2	Pathogenic	11	95595166	95595170	AGTTTC	A	criteria provided, single submitter	-
Deletion	NM_001370298.3(FGD4):c.1454del (p.Pro485fs)	FGD4	Pathogenic	12	32760939	32760939	AC	A	criteria provided, single submitter	-
Inversion	NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)	SPG11	Pathogenic	15	44856781	44856809	AACCTTTGCTGCTTAAATTCTTCCAAGTA	TACTTGGAAGAATTTAAGCAGCAAAGGTT	criteria provided, single submitter	-