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.370C>T (p.Arg124Ter)	PKHD1	Pathogenic	6	51944718	51944718	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234592
Duplication	NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	PKHD1	Pathogenic	6	51824680	51824681	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA234571
Deletion	NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)	PKHD1	Pathogenic/Likely pathogenic	6	51889875	51889875	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234573
single nucleotide variant	NM_138694.4(PKHD1):c.8303-1G>A	PKHD1	Pathogenic	6	51656172	51656172	C	T	criteria provided, single submitter	ClinGen:CA334735
single nucleotide variant	NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51497504	51497504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273916
Duplication	NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524471	51524472	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274359
single nucleotide variant	NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51524480	51524480	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274092,UniProtKB:P08F94#VAR_018591
single nucleotide variant	NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51613095	51613095	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274366
single nucleotide variant	NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51712764	51712764	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274412
single nucleotide variant	NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	PKHD1	Pathogenic/Likely pathogenic	6	51768399	51768399	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273991,UniProtKB:P08F94#VAR_014056