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
Deletion	NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)	PKD1	Likely pathogenic	16	2140021	2140048	CTTGTCCCCAGCCGGCCCAGGCTCACGCT	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)	PKD1	Likely pathogenic	16	2139947	2139964	CCTGGTTGAGTCGGTCAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	PKD1	Pathogenic	16	2139958	2139958	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119367,OMIM:601313.0004
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_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.12712C>T (p.Gln4238Ter)	PKD1	Pathogenic	16	2139928	2139928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394320489
single nucleotide variant	NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)	PKD1	Likely pathogenic	16	2139916	2139916	G	A	criteria provided, multiple submitters, no conflicts	-