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_138694.4(PKHD1):c.1694-1G>A	PKHD1	Pathogenic	6	51920528	51920528	C	T	criteria provided, single submitter	ClinGen:CA224055
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
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.10412T>G (p.Val3471Gly)	PKHD1	Pathogenic	6	51524512	51524512	A	C	criteria provided, single submitter	ClinGen:CA253016,UniProtKB:P08F94#VAR_018590,OMIM:606702.0008
single nucleotide variant	NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	PKHD1	Pathogenic	6	51923147	51923147	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253014,OMIM:606702.0007
single nucleotide variant	NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)	PKHD1	Pathogenic	6	51712669	51712669	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253011,OMIM:606702.0005
single nucleotide variant	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1	Pathogenic/Likely pathogenic	6	51947999	51947999	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129366,UniProtKB:P08F94#VAR_014039,OMIM:606702.0001
Deletion	NM_000297.4(PKD2):c.473del (p.Glu158fs)	PKD2	Pathogenic	4	88929358	88929358	GA	G	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.1320-2del	PKD2	Pathogenic	4	88967792	88967792	CA	C	criteria provided, single submitter	-
Duplication	NM_000297.4(PKD2):c.2568dup (p.Val857fs)	PKD2	Likely pathogenic	4	88996008	88996009	T	TA	criteria provided, single submitter	-