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
Duplication	NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)	PKHD1	Pathogenic/Likely pathogenic	6	51915053	51915054	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683446
single nucleotide variant	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88979256	88979256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357623301
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
single nucleotide variant	NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	PKD1	Pathogenic/Likely pathogenic	16	2142574	2142574	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA394336466
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.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_001009944.3(PKD1):c.11713-1G>A	PKD1	Pathogenic/Likely pathogenic	16	2141176	2141176	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394330362
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.1319+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88964610	88964610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357616589
single nucleotide variant	NM_138694.4(PKHD1):c.8555-2A>C	PKHD1	Pathogenic/Likely pathogenic	6	51637589	51637589	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA138907851