多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.717C>A (p.Tyr239Ter)	PKD2	Pathogenic/Likely pathogenic	4	88957379	88957379	C	A	criteria provided, multiple submitters, no conflicts	-
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	-
Duplication	NM_000297.4(PKD2):c.1668dup (p.Gln557fs)	PKD2	Pathogenic/Likely pathogenic	4	88973261	88973262	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51640642	51640642	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51890278	51890278	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51893047	51893047	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)	PKD1	Pathogenic/Likely pathogenic	16	2152161	2152161	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)	PKD1	Pathogenic/Likely pathogenic	16	2152610	2152610	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)	PKD1	Pathogenic/Likely pathogenic	16	2155355	2155355	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160211	2160211	G	A	criteria provided, multiple submitters, no conflicts	-