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
Deletion	NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs)	TTN	Likely pathogenic	2	179465723	179465735	GCTTATTGCACTGC	G	criteria provided, single submitter	ClinGen:CA658796062
Deletion	NM_001267550.2(TTN):c.67609del (p.Ile22537fs)	TTN	Likely pathogenic	2	179444315	179444315	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796010
Deletion	NM_001267550.2(TTN):c.107681-4_107710del	TTN	Likely pathogenic	2	179392005	179392038	GATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTT	G	criteria provided, single submitter	ClinGen:CA658795971
Deletion	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	TTN	Likely pathogenic	2	179395293	179395293	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795975
Deletion	NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)	TTN	Likely pathogenic	2	179396151	179396152	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60954084
Deletion	NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs)	TTN	Likely pathogenic	2	179474115	179474121	ACTTCACC	A	criteria provided, single submitter	ClinGen:CA658795989
single nucleotide variant	NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter)	TTN	Likely pathogenic	2	179631157	179631157	G	C	criteria provided, single submitter	ClinGen:CA349674681
Deletion	NM_001267550.2(TTN):c.70128del (p.Thr23377fs)	TTN	Likely pathogenic	2	179440731	179440731	TC	T	criteria provided, single submitter	ClinGen:CA658796006
single nucleotide variant	NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)	FLNC	Pathogenic/Likely pathogenic	7	128491594	128491594	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369208313
Duplication	NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)	TTN	Likely pathogenic	2	179401684	179401685	C	CACAACTGAGGACACTTCTAGAGGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795991