多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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
Duplication	NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)	PKD1	Pathogenic	16	2152610	2152611	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.8333del (p.Gly2778fs)	PKD1	Pathogenic	16	2153725	2153725	GC	G	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.8017-2_8017-1del	PKD1	Pathogenic/Likely pathogenic	16	2154644	2154645	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)	PKD1	Pathogenic	16	2156811	2156811	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)	PKD1	Pathogenic	16	2158441	2158441	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs)	PKD1	Pathogenic	16	2158574	2158575	C	CGGCCGCT	criteria provided, single submitter	-
Indel	NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs)	PKD1	Likely pathogenic	16	2159255	2159255	C	GGT	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.4894_4901dup (p.Gly1634_Leu1635insTer)	PKD1	Likely pathogenic	16	2160266	2160267	C	CCCCTCTAT	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)	PKD1	Pathogenic	16	2160724	2160724	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)	PKD1	Pathogenic	16	2161548	2161567	GCGCACATCCGCCTGGGCCGC	G	criteria provided, single submitter	-

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