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.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
Indel	NM_138694.4(PKHD1):c.6122-3_6122-1delinsA	PKHD1	Likely pathogenic	6	51777375	51777377	CTA	T	criteria provided, single submitter	ClinGen:CA16041047
Deletion	NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)	PKHD1	Pathogenic/Likely pathogenic	6	51798938	51798938	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041048
single nucleotide variant	NM_138694.4(PKHD1):c.5752-2A>G	PKHD1	Pathogenic/Likely pathogenic	6	51824826	51824826	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041049
single nucleotide variant	NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51882295	51882295	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852499
single nucleotide variant	NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51882323	51882323	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852502
single nucleotide variant	NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)	PKHD1	Likely pathogenic	6	51882356	51882356	G	A	criteria provided, single submitter	ClinGen:CA16041050