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
Indel	NM_138694.4(PKHD1):c.6122-3_6122-1delinsA	PKHD1	Likely pathogenic	6	51777375	51777377	CTA	T	criteria provided, single submitter	ClinGen:CA16041047
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
Deletion	NM_138694.4(PKHD1):c.4890del (p.Asn1631fs)	PKHD1	Likely pathogenic	6	51889718	51889718	TC	T	criteria provided, single submitter	ClinGen:CA16041051
Deletion	NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)	PKHD1	Likely pathogenic	6	51890034	51890034	AG	A	criteria provided, single submitter	ClinGen:CA16041054
Deletion	NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)	PKHD1	Likely pathogenic	6	51890051	51890051	CA	C	criteria provided, single submitter	ClinGen:CA16041055
Deletion	NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)	PKHD1	Likely pathogenic	6	51890487	51890487	TC	T	criteria provided, single submitter	ClinGen:CA16041056
single nucleotide variant	NM_138694.4(PKHD1):c.3561-2A>G	PKHD1	Likely pathogenic	6	51892696	51892696	T	C	criteria provided, single submitter	ClinGen:CA16041059
Deletion	NM_138694.4(PKHD1):c.3229-2del	PKHD1	Likely pathogenic	6	51897965	51897965	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041063
Deletion	NM_138694.4(PKHD1):c.2715+2_2715+14del	PKHD1	Likely pathogenic	6	51909750	51909762	CCCATTCACTCTCA	C	criteria provided, single submitter	ClinGen:CA16041065
Deletion	NM_138694.4(PKHD1):c.1409del (p.Gly470fs)	PKHD1	Likely pathogenic	6	51923224	51923224	AC	A	criteria provided, single submitter	ClinGen:CA16041069