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
Duplication	NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)	TTN	Likely pathogenic	2	179441957	179441958	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs)	TTN	Likely pathogenic	2	179452767	179452771	GCTGCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)	TTN	Likely pathogenic	2	179473009	179473009	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)	TTN	Likely pathogenic	2	179485573	179485579	AATGATGT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.1558del (p.Thr520fs)	TTN	Likely pathogenic	2	179656903	179656903	GT	G	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.54382-12_54387delinsCT	TTN	Likely pathogenic	2	179469027	179469044	CCAGATCTAGAAATTAGA	AG	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys)	TTN	Likely pathogenic	2	179478837	179478837	G	T	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.105186dup (p.Ala35063fs)	TTN	Likely pathogenic	2	179396155	179396156	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)	TTN	Likely pathogenic	2	179399399	179399399	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs)	TTN	Likely pathogenic	2	179401062	179401063	ATT	A	criteria provided, single submitter	-