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
single nucleotide variant	NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)	TTN	Likely pathogenic	2	179474194	179474194	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.735+1G>T	DES	Pathogenic	2	220285069	220285069	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.514C>T (p.Gln172Ter)	DES	Pathogenic	2	220283698	220283698	C	T	criteria provided, single submitter	-
Deletion	NC_000002.11:g.(?_219135239)_(220290732_?)del	DES	Pathogenic	2	219135239	220290732	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)	TTN	Likely pathogenic	2	179397397	179397397	G	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)	TTN	Likely pathogenic	2	179398623	179398624	GGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)	TTN	Likely pathogenic	2	179399614	179399614	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)	TTN	Likely pathogenic	2	179400398	179400400	TCT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.86354_86821+291del	TTN	Likely pathogenic	2	179423747	179424505	CTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.73568del (p.Pro24523fs)	TTN	Pathogenic/Likely pathogenic	2	179437291	179437291	TG	T	criteria provided, multiple submitters, no conflicts	-

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