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_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017
single nucleotide variant	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES	Pathogenic	2	220283222	220283222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019
single nucleotide variant	NM_001927.4(DES):c.735+1G>A	DES	Pathogenic/Likely pathogenic	2	220285069	220285069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261522
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>A	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA138728
Deletion	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)	TTN	Likely pathogenic	2	179485178	179485179	CAT	C	criteria provided, single submitter	ClinGen:CA261859
single nucleotide variant	NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)	TTN	Likely pathogenic	2	179483504	179483504	A	T	criteria provided, single submitter	ClinGen:CA261860
single nucleotide variant	NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)	TTN	Likely pathogenic	2	179483495	179483495	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261864
single nucleotide variant	NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	TTN	Likely pathogenic	2	179482572	179482572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261868
single nucleotide variant	NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476338	179476338	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261872
single nucleotide variant	NM_001267550.2(TTN):c.56647+1G>A	TTN	Likely pathogenic	2	179463872	179463872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261880