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.1898+5G>A	PKD2	Pathogenic/Likely pathogenic	4	88977424	88977424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657394
Deletion	NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)	PKD2	Pathogenic	4	88973262	88973269	TACAGTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657393
single nucleotide variant	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2	Pathogenic/Likely pathogenic	4	88959523	88959523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357632796
single nucleotide variant	NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)	PKD2	Pathogenic	4	88940617	88940617	G	A	criteria provided, single submitter	ClinGen:CA357628188
Deletion	NM_000297.4(PKD2):c.514del (p.Asp172fs)	PKD2	Pathogenic	4	88929396	88929396	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657391
single nucleotide variant	NM_000297.4(PKD2):c.2523-1G>A	PKD2	Pathogenic	4	88995963	88995963	G	A	criteria provided, single submitter	ClinGen:CA357627494
Deletion	NM_000297.4(PKD2):c.2159del (p.Asn720fs)	PKD2	Pathogenic	4	88986559	88986559	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004147
Deletion	NM_000297.4(PKD2):c.481_502del (p.Gly161fs)	PKD2	Pathogenic	4	88929362	88929383	ACCAGGGCCCGCCGTGCCCCAGC	A	criteria provided, single submitter	ClinGen:CA645509147
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.1094+3_1094+6del	PKD2	Pathogenic/Likely pathogenic	4	88959654	88959657	CGTAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372753