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
Duplication	NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	PKHD1	Pathogenic	6	51824680	51824681	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA234571
single nucleotide variant	NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)	PKHD1	Pathogenic	6	51944718	51944718	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234592
single nucleotide variant	NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	PKHD1	Pathogenic	6	51908519	51908519	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234576
single nucleotide variant	NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)	PKHD1	Pathogenic	6	51774264	51774264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234569
single nucleotide variant	NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51927453	51927453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224114
Deletion	NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	PKHD1	Pathogenic	6	51612725	51612725	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224113
Deletion	NM_138694.4(PKHD1):c.930del (p.Thr311fs)	PKHD1	Pathogenic	6	51929799	51929799	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224112
single nucleotide variant	NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51618125	51618125	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224108
single nucleotide variant	NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51948021	51948021	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224105
single nucleotide variant	NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)	PKHD1	Likely pathogenic	6	51656066	51656066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224101