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.69412+1G>A	TTN	Likely pathogenic	2	179441649	179441649	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353374
Deletion	NM_001267550.2(TTN):c.69843del (p.Lys23281_Val23282insTer)	TTN	Likely pathogenic	2	179441016	179441016	CT	C	criteria provided, single submitter	ClinGen:CA353178
Deletion	NM_001267550.2(TTN):c.70791del (p.Gly23598fs)	TTN	Likely pathogenic	2	179440068	179440068	CT	C	criteria provided, single submitter	ClinGen:CA353314
Insertion	NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs)	TTN	Likely pathogenic	2	179434742	179434743	G	GT	criteria provided, single submitter	ClinGen:CA353244
Deletion	NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs)	TTN	Likely pathogenic	2	179434473	179434476	TATTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353327
Deletion	NM_001267550.2(TTN):c.81518del (p.Pro27173fs)	TTN	Likely pathogenic	2	179429341	179429341	TG	T	criteria provided, single submitter	ClinGen:CA353040
single nucleotide variant	NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)	TTN	Likely pathogenic	2	179422457	179422457	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA113780
Insertion	NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs)	TTN	Likely pathogenic	2	179417304	179417305	T	TA	criteria provided, single submitter	ClinGen:CA353211
single nucleotide variant	NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)	TTN	Pathogenic/Likely pathogenic	2	179413187	179413187	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090755
Duplication	NM_001267550.2(TTN):c.94562dup (p.Thr31522fs)	TTN	Likely pathogenic	2	179411592	179411593	T	TG	criteria provided, single submitter	ClinGen:CA353126