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.7893del (p.Leu2630_Trp2631insTer)	PKHD1	Likely pathogenic	6	51720709	51720709	TC	T	criteria provided, single submitter	ClinGen:CA16041038
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.7713del (p.His2572fs)	PKHD1	Likely pathogenic	6	51732681	51732681	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041040
single nucleotide variant	NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)	PKHD1	Likely pathogenic	6	51732698	51732698	C	A	criteria provided, single submitter	ClinGen:CA16041041
single nucleotide variant	NM_138694.4(PKHD1):c.7350+1G>T	PKHD1	Likely pathogenic	6	51747890	51747890	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041042
Deletion	NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)	PKHD1	Likely pathogenic	6	51747971	51747971	TC	T	criteria provided, single submitter	ClinGen:CA16041043
single nucleotide variant	NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)	PKHD1	Likely pathogenic	6	51751956	51751956	G	A	criteria provided, single submitter	ClinGen:CA16041044
single nucleotide variant	NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)	PKHD1	Likely pathogenic	6	51768481	51768481	G	A	criteria provided, single submitter	ClinGen:CA16041045
Deletion	NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)	PKHD1	Likely pathogenic	6	51768788	51768788	CT	C	criteria provided, single submitter	ClinGen:CA3852152
single nucleotide variant	NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)	PKHD1	Likely pathogenic	6	51774237	51774237	T	A	criteria provided, single submitter	ClinGen:CA16041046