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
Deletion	NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)	PKHD1	Likely pathogenic	6	51720736	51720736	AG	A	criteria provided, single submitter	ClinGen:CA16041039
Deletion	NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)	PKHD1	Pathogenic	6	51720714	51720714	AG	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)	PKHD1	Likely pathogenic	6	51720709	51720709	TC	T	criteria provided, single submitter	ClinGen:CA16041038
single nucleotide variant	NM_138694.4(PKHD1):c.7912-2A>G	PKHD1	Likely pathogenic	6	51712770	51712770	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.7912-1G>A	PKHD1	Likely pathogenic	6	51712769	51712769	C	T	criteria provided, single submitter	-
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
Deletion	NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)	PKHD1	Pathogenic	6	51712703	51712707	GCGGCA	G	criteria provided, single submitter	-
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.8050C>T (p.Gln2684Ter)	PKHD1	Likely pathogenic	6	51712630	51712630	G	A	criteria provided, single submitter	ClinGen:CA16041037
single nucleotide variant	NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	PKHD1	Pathogenic/Likely pathogenic	6	51712612	51712612	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10624394