筋原線維性ミオパチー

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_001267550.2(TTN):c.66770-2A>C	TTN	Likely pathogenic	2	179445338	179445338	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349426176
Deletion	NM_001267550.2(TTN):c.53984del (p.Met17995fs)	TTN	Pathogenic	2	179469920	179469920	CA	C	criteria provided, single submitter	ClinGen:CA658795982
single nucleotide variant	NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)	TTN	Pathogenic	2	179474569	179474569	C	T	criteria provided, single submitter	ClinGen:CA349584257
single nucleotide variant	NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)	TTN	Likely pathogenic	2	179505980	179505980	T	A	criteria provided, single submitter	ClinGen:CA61009952
Deletion	NM_001267550.2(TTN):c.105486del (p.Trp35162fs)	TTN	Pathogenic	2	179395856	179395856	GC	G	criteria provided, single submitter	ClinGen:CA658795976
Duplication	NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN	Pathogenic/Likely pathogenic	2	179435222	179435223	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796030
Duplication	NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs)	TTN	Pathogenic	2	179458458	179458459	A	ACC	criteria provided, single submitter	ClinGen:CA658796043
single nucleotide variant	NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)	TTN	Pathogenic	2	179655464	179655464	G	A	criteria provided, single submitter	ClinGen:CA349507909
single nucleotide variant	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES	Likely pathogenic	2	220286189	220286189	A	G	criteria provided, single submitter	ClinGen:CA350694607
Deletion	NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES	Pathogenic	2	220288506	220288522	TCTCCCCATCCAGACCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796176