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.99034A>T (p.Lys33012Ter)	TTN	Likely pathogenic	2	179403522	179403522	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA276022
Indel	NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)	TTN	Pathogenic	2	179584315	179584316	GC	T	criteria provided, single submitter	ClinGen:CA207334
single nucleotide variant	NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)	TTN	Pathogenic/Likely pathogenic	2	179393524	179393524	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351280,ClinVar:424806
Duplication	NM_001267550.2(TTN):c.105753dup (p.Arg35252fs)	TTN	Likely pathogenic	2	179395588	179395589	G	GT	criteria provided, single submitter	ClinGen:CA351283,ClinVar:424806
single nucleotide variant	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB	Pathogenic	11	111781055	111781055	C	A	criteria provided, single submitter	ClinGen:CA250008
single nucleotide variant	NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)	TTN	Likely pathogenic	2	179397332	179397332	G	T	criteria provided, single submitter	ClinGen:CA087871
Deletion	NM_001267550.2(TTN):c.94249del (p.Val31417fs)	TTN	Likely pathogenic	2	179412003	179412003	AC	A	criteria provided, single submitter	ClinGen:CA352002
single nucleotide variant	NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419765	179419765	C	T	criteria provided, single submitter	ClinGen:CA351972
Deletion	NM_001267550.2(TTN):c.87849del (p.Leu29283fs)	TTN	Likely pathogenic	2	179422140	179422140	AT	A	criteria provided, single submitter	ClinGen:CA351822
Deletion	NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)	TTN	Likely pathogenic	2	179427069	179427070	CTT	C	criteria provided, single submitter	ClinGen:CA351735