筋原線維性ミオパチー - MGenReviews

筋原線維性ミオパチー

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.80365_80432del (p.Leu26789fs)	TTN	Pathogenic/Likely pathogenic	2	179430427	179430494	TCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042376
single nucleotide variant	NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)	TTN	Likely pathogenic	2	179396689	179396689	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042411
single nucleotide variant	NM_001267550.2(TTN):c.64972+1G>T	TTN	Likely pathogenic	2	179449395	179449395	C	A	criteria provided, single submitter	ClinGen:CA16042421
Duplication	NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)	BAG3	Pathogenic/Likely pathogenic	10	121432110	121432111	G	GCACGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042687
single nucleotide variant	NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)	BAG3	Pathogenic	10	121429450	121429450	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042712
single nucleotide variant	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN	Pathogenic	2	179436292	179436292	C	T	criteria provided, single submitter	ClinGen:CA16043381
single nucleotide variant	NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter)	TTN	Likely pathogenic	2	179575962	179575962	C	T	criteria provided, single submitter	ClinGen:CA16043802
single nucleotide variant	NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter)	TTN	Likely pathogenic	2	179567361	179567361	G	A	criteria provided, single submitter	ClinGen:CA16043887
single nucleotide variant	NM_001267550.2(TTN):c.91271-1G>A	TTN	Likely pathogenic	2	179415988	179415988	C	T	criteria provided, single submitter	ClinGen:CA16603864
single nucleotide variant	NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)	TTN	Likely pathogenic	2	179425345	179425345	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603877

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