基底細胞母斑症候群 - MGenReviews

基底細胞母斑症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_000264.5(PTCH1):c.251_258del (p.Gln84fs)	PTCH1	Pathogenic	9	98268825	98268832	AGAGTCTCT	A	criteria provided, single submitter	-
Deletion	NM_016169.4(SUFU):c.649_661del (p.Gln217fs)	SUFU	Pathogenic	10	104353442	104353454	GGGCAGGGCATCCT	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_95101697)_(95508371_?)del	PTCH1	Pathogenic	9	97863979	98270653	na	na	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3450-2_3483del	PTCH1	Pathogenic	9	98212189	98212224	GGATGGTGAGGATCGCCAGCACAGCAAAGAAATACCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.3168+5G>A	PTCH1	Pathogenic	9	98220290	98220290	C	T	criteria provided, single submitter	-
Indel	NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT	PTCH1	Likely pathogenic	9	98242664	98242670	GTACTCA	AGCG	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.684-2A>G	SUFU	Likely pathogenic	10	104353748	104353748	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.3450-1G>A	PTCH1	Pathogenic	9	98212223	98212223	C	T	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_102549960)_(102550116_?)del	SUFU	Pathogenic	10	104309717	104309873	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_102504143)_(102550116_?)del	SUFU	Pathogenic	10	104263900	104309873	na	na	criteria provided, single submitter	-

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