結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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_000368.5(TSC1):c.2165del (p.Lys722fs)	TSC1	Pathogenic	9	135779081	135779081	CT	C	criteria provided, single submitter	ClinGen:CA16612574
single nucleotide variant	NM_000368.5(TSC1):c.362A>T (p.Lys121Met)	TSC1	Likely pathogenic	9	135800975	135800975	T	A	criteria provided, single submitter	ClinGen:CA16612651
Duplication	NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs)	TSC1	Pathogenic	9	135778022	135778023	C	CTCTCGGTCATGCTGCAGCTG	criteria provided, single submitter	ClinGen:CA16612750
Deletion	NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs)	TSC2	Pathogenic	16	2124384	2124385	CCT	C	criteria provided, single submitter	ClinGen:CA16614680
single nucleotide variant	NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter)	TSC2	Pathogenic	16	2114303	2114303	C	T	criteria provided, single submitter	ClinGen:CA16614712
single nucleotide variant	NM_000548.5(TSC2):c.4569+1G>T	TSC2	Likely pathogenic	16	2135028	2135028	G	T	criteria provided, single submitter	ClinGen:CA16614777
Deletion	NM_000548.5(TSC2):c.3884-497_5045del	TSC2	Pathogenic	16	2133199	2137919	GACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCT	G	criteria provided, single submitter	ClinGen:CA16614787
Deletion	NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs)	TSC2	Pathogenic	16	2138462	2138477	CGCCTACTCCAACCCCA	C	criteria provided, single submitter	ClinGen:CA16614837
Deletion	NC_000016.10:g.(?_2053342)_(2060813_?)del	TSC2	Pathogenic	16	2103343	2110814	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)	TSC2	Pathogenic	16	2104381	2104381	G	T	criteria provided, single submitter	ClinGen:CA16614902

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