先天性筋無力症候群

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
Deletion	NM_000751.3(CHRND):c.820_820+1del	CHRND	Pathogenic	2	233394849	233394850	CAG	C	criteria provided, single submitter	ClinGen:CA10575541,Leiden Muscular Dystrophy (CHRND):CHRND_00013,OMIM:100720.0004
single nucleotide variant	NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)	CHRND	Pathogenic	2	233392146	233392146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128067,OMIM:100720.0005
single nucleotide variant	NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1	Pathogenic/Likely pathogenic	2	175618970	175618970	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA258183,UniProtKB:P02708#VAR_000282,OMIM:100690.0004
single nucleotide variant	NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	CHRNA1	Pathogenic/Likely pathogenic	2	175614679	175614679	G	A	criteria provided, multiple submitters, no conflicts	OMIM:100690.0016
single nucleotide variant	NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	GFPT1	Pathogenic/Likely pathogenic	2	69590695	69590695	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128605,UniProtKB:Q06210#VAR_065342,OMIM:138292.0001
single nucleotide variant	NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)	GFPT1	Pathogenic	2	69581411	69581411	C	T	criteria provided, single submitter	OMIM:138292.0003
single nucleotide variant	NM_000079.4(CHRNA1):c.687C>T (p.Arg229=)	CHRNA1	Likely pathogenic	2	175618322	175618322	G	A	criteria provided, single submitter	ClinGen:CA199695
Deletion	NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	SLC5A7	Likely pathogenic	2	108604733	108604736	GCCAT	G	criteria provided, single submitter	ClinGen:CA10588815,OMIM:608761.0005
Deletion	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND	Likely pathogenic	2	233396063	233396063	GT	G	criteria provided, single submitter	ClinGen:CA16043387
single nucleotide variant	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND	Likely pathogenic	2	233399853	233399853	G	T	criteria provided, single submitter	ClinGen:CA16043388