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.2534T>C (p.Leu845Ser)	PKD1	Pathogenic/Likely pathogenic	16	2164490	2164490	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119381,UniProtKB:P98161#VAR_010086,OMIM:601313.0012
single nucleotide variant	NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)	PKD1	Pathogenic	16	2159404	2159404	G	A	criteria provided, single submitter	ClinGen:CA119383,OMIM:601313.0013
single nucleotide variant	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	PKD2	Pathogenic	4	88964429	88964429	G	A	criteria provided, single submitter	ClinGen:CA123158,OMIM:173910.0001
single nucleotide variant	NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	PKD2	Pathogenic	4	88986631	88986631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123160,OMIM:173910.0002
single nucleotide variant	NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	PKD2	Pathogenic	4	88967864	88967864	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123164,OMIM:173910.0005
Duplication	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	PKD2	Pathogenic	4	88986558	88986559	G	GA	criteria provided, multiple submitters, no conflicts	OMIM:173910.0006
single nucleotide variant	NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)	PKD2	Likely pathogenic	4	88979142	88979142	C	A	criteria provided, single submitter	ClinGen:CA220615
single nucleotide variant	NM_000297.4(PKD2):c.709+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88940724	88940724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220617
single nucleotide variant	NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51609308	51609308	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224050
single nucleotide variant	NM_138694.4(PKHD1):c.1602+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51921687	51921687	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224054