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_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)	PKD1	Pathogenic	16	2153840	2153840	C	A	criteria provided, single submitter	ClinGen:CA394365149
single nucleotide variant	NM_001009944.3(PKD1):c.10618+2T>G	PKD1	Pathogenic	16	2144091	2144091	A	C	criteria provided, single submitter	ClinGen:CA394341207
Deletion	NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)	PKD1	Pathogenic	16	2143034	2143053	GAGGCATCCCCATAGCTGGCC	G	criteria provided, single submitter	ClinGen:CA658656506
single nucleotide variant	NM_001009944.3(PKD1):c.11412-2A>C	PKD1	Pathogenic	16	2141909	2141909	T	G	criteria provided, single submitter	ClinGen:CA394333612
single nucleotide variant	NM_001009944.3(PKD1):c.11713-2A>G	PKD1	Pathogenic	16	2141177	2141177	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394330372
single nucleotide variant	NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)	PKD1	Pathogenic	16	2140944	2140944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394328913
single nucleotide variant	NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	PKD1	Pathogenic	16	2140782	2140782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394328039
single nucleotide variant	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2	Pathogenic	4	88996055	88996055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004304
single nucleotide variant	NM_000297.4(PKD2):c.2240+1G>A	PKD2	Pathogenic	4	88986648	88986648	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357624779
Deletion	NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)	PKD2	Pathogenic	4	88973262	88973269	TACAGTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657393