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.80950G>T (p.Glu26984Ter)	TTN	Likely pathogenic	2	179429909	179429909	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)	TTN	Likely pathogenic	2	179428334	179428334	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)	TTN	Likely pathogenic	2	179396395	179396395	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.56347+1G>A	TTN	Likely pathogenic	2	179464280	179464280	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56648-1G>A	TTN	Likely pathogenic	2	179463790	179463790	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55121-1G>A	TTN	Likely pathogenic	2	179466878	179466878	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.66464-2A>G	TTN	Likely pathogenic	2	179446533	179446533	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.51436+1G>T	TTN	Pathogenic	2	179474816	179474816	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.89197+2T>G	TTN	Likely pathogenic	2	179418639	179418639	A	C	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG	TTN	Likely pathogenic	2	179469296	179469502	AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC	CCTTAT	criteria provided, single submitter	-