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.958C>T (p.Arg320Ter)	PKD2	Pathogenic	4	88959517	88959517	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)	PKD1	Pathogenic	16	2142493	2142493	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	PKD1	Pathogenic/Likely pathogenic	16	2139949	2139949	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	PKD1	Pathogenic/Likely pathogenic	16	2161213	2161213	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000004.12:g.(?_88007714)_(88075714_?)del	PKD2	Pathogenic	4	88928866	88996866	na	na	criteria provided, single submitter	-
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_138694.4(PKHD1):c.6029del (p.Gln2010fs)	PKHD1	Pathogenic	6	51799000	51799000	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51909777	51909777	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	PKHD1	Pathogenic/Likely pathogenic	6	51612695	51612695	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000297.4(PKD2):c.443del (p.Gly148fs)	PKD2	Pathogenic	4	88929326	88929326	CG	C	criteria provided, single submitter	-