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.10136del (p.Thr3379fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609203	51609203	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.5909-2del	PKHD1	Pathogenic/Likely pathogenic	6	51799122	51799122	CT	C	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.10852del (p.Arg3618fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524072	51524072	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)	PKHD1	Pathogenic/Likely pathogenic	6	51503715	51503715	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	PKHD1	Pathogenic/Likely pathogenic	6	51924836	51924836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3853636
single nucleotide variant	NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51893051	51893051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA364440564
single nucleotide variant	NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51656157	51656157	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851664
single nucleotide variant	NM_138694.4(PKHD1):c.881-1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51929849	51929849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364429821
single nucleotide variant	NM_138694.4(PKHD1):c.602+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51936912	51936912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364434554