多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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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_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2	Pathogenic	4	88940684	88940684	AC	A	criteria provided, single submitter	ClinGen:CA645372397
single nucleotide variant	NM_000297.4(PKD2):c.1319+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88964610	88964610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357616589
single nucleotide variant	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2	Pathogenic	4	88959532	88959532	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611587
single nucleotide variant	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2	Pathogenic	4	88959475	88959475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609391
Indel	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	PKD2	Pathogenic	4	88929242	88929249	CCCGGGCA	TAGGACG	criteria provided, single submitter	ClinGen:CA16043405
single nucleotide variant	NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)	PKD2	Pathogenic	4	88929030	88929030	C	T	criteria provided, single submitter	ClinGen:CA16043404
single nucleotide variant	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Pathogenic	4	88959654	88959654	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602942
single nucleotide variant	NM_000297.4(PKD2):c.709+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88940724	88940724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220617
single nucleotide variant	NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)	PKD2	Likely pathogenic	4	88979142	88979142	C	A	criteria provided, single submitter	ClinGen:CA220615
Duplication	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	PKD2	Pathogenic	4	88986558	88986559	G	GA	criteria provided, multiple submitters, no conflicts	OMIM:173910.0006