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.8555-2A>C	PKHD1	Pathogenic/Likely pathogenic	6	51637589	51637589	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA138907851
single nucleotide variant	NM_138694.4(PKHD1):c.8642+1G>A	PKHD1	Pathogenic	6	51637499	51637499	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.8677dup (p.His2893fs)	PKHD1	Pathogenic/Likely pathogenic	6	51619701	51619702	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)	PKHD1	Likely pathogenic	6	51619614	51619615	CCT	C	criteria provided, single submitter	ClinGen:CA3851539
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
Deletion	NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)	PKHD1	Likely pathogenic	6	51618117	51618117	GA	G	criteria provided, single submitter	ClinGen:CA16041035
single nucleotide variant	NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1	Pathogenic	6	51618079	51618079	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851503,UniProtKB:P08F94#VAR_014058
single nucleotide variant	NM_138694.4(PKHD1):c.8950+1G>T	PKHD1	Likely pathogenic	6	51617998	51617998	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)	PKHD1	Likely pathogenic	6	51613456	51613456	GA	G	criteria provided, single submitter	ClinGen:CA16041034
single nucleotide variant	NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)	PKHD1	Pathogenic	6	51613411	51613411	G	C	criteria provided, single submitter	-