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.2159del (p.Asn720fs)	PKD2	Pathogenic	4	88986559	88986559	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004147
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.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.603G>A (p.Trp201Ter)	PKD2	Pathogenic	4	88940617	88940617	G	A	criteria provided, single submitter	ClinGen:CA357628188
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
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.1898+5G>A	PKD2	Pathogenic/Likely pathogenic	4	88977424	88977424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657394
single nucleotide variant	NM_000297.4(PKD2):c.2240+1G>A	PKD2	Pathogenic	4	88986648	88986648	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357624779
single nucleotide variant	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2	Pathogenic	4	88996055	88996055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004304
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