家族性大腸腺腫症 - MGenReviews

家族性大腸腺腫症

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_002439.5(MSH3):c.2988_3000+893del	MSH3	Likely pathogenic	5	80150123	80151028	ATTTCATCAGAGATGTAAGTATCCGGTAAACTGTATTTAAAAAGAAATTAATTTGTAAATTATTATTTTTAAATGACAGTCATAATTGTGCCATATTTATGGGGTACAATGTGATGTTTTGAAACATATAAACAATATGGAGTGATTAAATTAACCTAATTAACACATTCCTCACCTCATTTAAATATCATTTTTTGTGGTGAGACATTTGAAATTTCTCTTAGTTATTTTGAAATATATATTATTACTGCTGTAGTCATAATACCGTTATGCAATCCCTGCATACCCTTTTGTACATGGATGATACATATTATACACATTATTTTCCTGATCTCAGTCTCCAAATACTCAAAATTATCTTTTTTATAATTGACTGCAGTCCTGCAAGTGATCATTAGAATGCTACACACTGAATTCAGACAGATTGACCCTAAATAATGTTTGTAGTTTTTTGATATATGTTCCTTTTTTTGCTGACTCAACATAAATCTGGTTGTACGAAAAAGGCCTTCCTGGCAATATTTTCACTCAGAATTATATCTTATTATCCTTGGTGAACCCTAAATCAAGAACAGGTACCATCCATCTACAGCCAAATTCCTCGAGGGAAAAACAAGGAAATAGTGCCATTTCCACTTTGTGAAATCCTTTTTTTCACCAACATCCTGAAGGATCTCACTGTGAGATCTTTGATCTCATCTCTTTGTGTTTCTATCTGATTCAGTAACATCATTCCTTCAATACATGTCTCCTTTTTTTCAGGGTGCATTTCTAAGCTTCAGTGTAAAATTTTGTTTGTGTCAAACTTTCTATCCCTGTCATTTCCATCTAACTCTCTCCTTTAGTTTACTTTCTCTATCTTGTTCATTTTGGTCTCTGCTTTTCAAATCTCCCCTTCATGGCACCT	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG	APC	Likely pathogenic	5	112043223	112043224	AT	TAGCAAGGG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.526-1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093728	2093728	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.525+1G>A	NTHL1	Likely pathogenic	16	2094630	2094630	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002528.7(NTHL1):c.354+2T>C	NTHL1	Likely pathogenic	16	2096127	2096127	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002528.7(NTHL1):c.116-1G>A	NTHL1	Likely pathogenic	16	2096368	2096368	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.115+1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2097709	2097709	C	T	criteria provided, multiple submitters, no conflicts	-

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