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_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1	Pathogenic	16	2140803	2140803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7828876
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
Duplication	NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer)	PKD1	Likely pathogenic	16	2140945	2140946	C	CGCCACCTGGTCGAAGCTAGTGA	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.11912del (p.Pro3971fs)	PKD1	Pathogenic	16	2140976	2140976	CG	C	criteria provided, single submitter	ClinGen:CA645509208
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
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
Duplication	NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter)	PKD1	Likely pathogenic	16	2141565	2141566	G	GT	criteria provided, single submitter	ClinGen:CA658656504
Deletion	NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	PKD1	Pathogenic	16	2141572	2141573	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798504
Duplication	NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)	PKD1	Likely pathogenic	16	2141572	2141573	G	GT	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)	PKD1	Pathogenic	16	2141582	2141582	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA210902