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.1390C>T (p.Arg464Ter)	PKD2	Pathogenic	4	88967864	88967864	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123164,OMIM:173910.0005
single nucleotide variant	NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)	PKD2	Pathogenic	4	88967799	88967799	T	A	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.1320-2del	PKD2	Pathogenic	4	88967792	88967792	CA	C	criteria provided, single submitter	-
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.1249C>T (p.Arg417Ter)	PKD2	Pathogenic/Likely pathogenic	4	88964539	88964539	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)	PKD2	Likely pathogenic	4	88964483	88964483	C	AA	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	PKD2	Pathogenic	4	88964429	88964429	G	A	criteria provided, single submitter	ClinGen:CA123158,OMIM:173910.0001
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
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.1081C>T (p.Arg361Ter)	PKD2	Pathogenic/Likely pathogenic	4	88959640	88959640	C	T	criteria provided, multiple submitters, no conflicts	-