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_138694.4(PKHD1):c.2180dup (p.Asn727fs)	PKHD1	Pathogenic/Likely pathogenic	6	51915053	51915054	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683446
Deletion	NM_138694.4(PKHD1):c.5065del (p.Met1689fs)	PKHD1	Likely pathogenic	6	51889543	51889543	AT	A	criteria provided, single submitter	ClinGen:CA658683444
single nucleotide variant	NM_138694.4(PKHD1):c.602+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51936912	51936912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364434554
single nucleotide variant	NM_138694.4(PKHD1):c.881-1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51929849	51929849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364429821
Deletion	NM_138694.4(PKHD1):c.10998del (p.Ile3666fs)	PKHD1	Pathogenic	6	51523926	51523926	CA	C	criteria provided, single submitter	ClinGen:CA658796775
Deletion	NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)	PKD1	Pathogenic	16	2140451	2140452	GCA	G	criteria provided, single submitter	ClinGen:CA658798502
Duplication	NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)	PKD1	Pathogenic	16	2158769	2158770	G	GA	criteria provided, single submitter	ClinGen:CA658798515
Duplication	NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	PKD1	Pathogenic	16	2143887	2143888	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA620705424
single nucleotide variant	NM_001009944.3(PKD1):c.2854-2A>G	PKD1	Pathogenic	16	2163295	2163295	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394385866
Deletion	NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	PKD1	Pathogenic	16	2141572	2141573	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798504

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