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
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.145C>T (p.Gln49Ter)	PKD2	Pathogenic	4	88929030	88929030	C	T	criteria provided, single submitter	ClinGen:CA16043404
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.916C>T (p.Arg306Ter)	PKD2	Pathogenic	4	88959475	88959475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609391
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.1319+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88964610	88964610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357616589
Deletion	NM_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2	Pathogenic	4	88940684	88940684	AC	A	criteria provided, single submitter	ClinGen:CA645372397
Deletion	NM_000297.4(PKD2):c.1094+3_1094+6del	PKD2	Pathogenic/Likely pathogenic	4	88959654	88959657	CGTAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372753
Deletion	NM_000297.4(PKD2):c.2524del (p.Leu842fs)	PKD2	Pathogenic	4	88995964	88995964	GC	G	criteria provided, single submitter	ClinGen:CA645509148
Deletion	NM_000297.4(PKD2):c.481_502del (p.Gly161fs)	PKD2	Pathogenic	4	88929362	88929383	ACCAGGGCCCGCCGTGCCCCAGC	A	criteria provided, single submitter	ClinGen:CA645509147