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_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3	Pathogenic/Likely pathogenic	10	121431884	121431884	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.88895-1G>A	TTN	Likely pathogenic	2	179418944	179418944	C	T	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	-
single nucleotide variant	NM_001267550.2(TTN):c.89197+2T>G	TTN	Likely pathogenic	2	179418639	179418639	A	C	criteria provided, single submitter	-
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.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.55121-1G>A	TTN	Likely pathogenic	2	179466878	179466878	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.2550+2T>C	FLNC	Likely pathogenic	7	128483010	128483010	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.2265+1G>A	FLNC	Likely pathogenic	7	128482429	128482429	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4127+1G>T	FLNC	Pathogenic	7	128486518	128486518	G	T	criteria provided, single submitter	-