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_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)	PKD1	Pathogenic	16	2140416	2140417	A	ATAAC	criteria provided, single submitter	ClinGen:CA16620106
single nucleotide variant	NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)	PKD1	Pathogenic	16	2147228	2147228	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620107
Duplication	NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)	PKD1	Pathogenic	16	2152851	2152852	G	GCACCCTGGAGTGAC	criteria provided, single submitter	ClinGen:CA16620108
single nucleotide variant	NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)	PKD1	Pathogenic	16	2158255	2158255	G	A	criteria provided, single submitter	ClinGen:CA16620109
single nucleotide variant	NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)	PKD1	Pathogenic	16	2166565	2166565	G	A	criteria provided, single submitter	ClinGen:CA16620111
single nucleotide variant	NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)	PKD1	Likely pathogenic	16	2139957	2139957	C	G	criteria provided, single submitter	ClinGen:CA16621682
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
single nucleotide variant	NM_138694.4(PKHD1):c.1505A>T (p.Glu502Val)	PKHD1	Likely pathogenic	6	51923128	51923128	T	A	criteria provided, single submitter	ClinGen:CA3853545
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_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)	DZIP1L	Pathogenic	3	137822351	137822351	G	A	criteria provided, single submitter	ClinGen:CA354681055,OMIM:617570.0003