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
Duplication	NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)	PKHD1	Likely pathogenic	6	51524462	51524463	T	TC	criteria provided, single submitter	ClinGen:CA16041026
Duplication	NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)	PKHD1	Likely pathogenic	6	51524400	51524401	G	GA	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)	PKHD1	Likely pathogenic	6	51524362	51524363	CTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)	PKHD1	Pathogenic	6	51524296	51524296	A	G	criteria provided, single submitter	ClinGen:CA364433489
Deletion	NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	PKHD1	Pathogenic	6	51524287	51524287	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851042
single nucleotide variant	NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn)	PKHD1	Likely pathogenic	6	51524266	51524266	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys)	PKHD1	Likely pathogenic	6	51524260	51524260	A	T	criteria provided, single submitter	ClinGen:CA275363
single nucleotide variant	NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51524215	51524215	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041025
Deletion	NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)	PKHD1	Likely pathogenic	6	51524189	51524189	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)	PKHD1	Likely pathogenic	6	51524180	51524180	C	A	criteria provided, multiple submitters, no conflicts	-