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
single nucleotide variant	NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)	PKD1	Likely pathogenic	16	2153296	2153296	T	C	criteria provided, single submitter	ClinGen:CA394362115
single nucleotide variant	NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)	PKD1	Pathogenic	16	2155868	2155868	C	A	criteria provided, single submitter	ClinGen:CA394367599
Deletion	NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	PKD1	Pathogenic	16	2168096	2168097	CAG	C	criteria provided, single submitter	ClinGen:CA658798518
Deletion	NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)	PKD2	Pathogenic	4	88986956	88986959	AGTAC	A	criteria provided, single submitter	ClinGen:CA658796448
single nucleotide variant	NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	PKD1	Pathogenic	16	2140778	2140778	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7828865
single nucleotide variant	NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser)	PKD1	Likely pathogenic	16	2158291	2158291	G	A	criteria provided, single submitter	ClinGen:CA394372711
single nucleotide variant	NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	PKD2	Pathogenic	4	88995974	88995974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004284
single nucleotide variant	NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)	PKD1	Pathogenic	16	2159137	2159137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394374645
single nucleotide variant	NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	PKD2	Pathogenic	4	88940651	88940651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575461
Indel	NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs)	PKHD1	Pathogenic	6	51890252	51890256	CAAGG	TGACCCCTT	criteria provided, single submitter	ClinGen:CA658796770

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