多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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_001009944.3(PKD1):c.6193del (p.Ala2065fs)	PKD1	Pathogenic	16	2158975	2158975	GC	G	criteria provided, single submitter	ClinGen:CA658658352
Deletion	NM_001009944.3(PKD1):c.5245del (p.Val1749fs)	PKD1	Likely pathogenic	16	2159923	2159923	AC	A	criteria provided, single submitter	ClinGen:CA658658382
Deletion	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1	Pathogenic	16	2160153	2160154	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655504,OMIM:601313.0014
Indel	NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)	PKD1	Pathogenic	16	2168045	2168069	GGCATCCACCTCGGCGGAGCCGTCT	ATCCA	criteria provided, single submitter	ClinGen:CA658658359
Deletion	NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)	PKD1	Pathogenic	16	2185520	2185526	TCCGCAGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658361
Duplication	NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)	PKD1	Pathogenic	16	2142114	2142115	T	TCGTAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656505
Deletion	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Pathogenic/Likely pathogenic	4	88983056	88983057	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657395
Duplication	NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)	PKD1	Pathogenic	16	2158618	2158619	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658351
Deletion	NC_000004.12:g.(?_88007714)_(88058123_?)del	PKD2	Pathogenic	4	88928866	88979275	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	PKD2	Pathogenic	4	88977295	88977295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357622723