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.5665del (p.Glu1889fs)	PKHD1	Pathogenic	6	51875193	51875193	TC	T	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)	PKHD1	Pathogenic	6	51720775	51720791	GGTTAGACAATGTATCAC	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)	PKHD1	Pathogenic	6	51720714	51720714	AG	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)	PKHD1	Pathogenic	6	51712703	51712707	GCGGCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)	PKHD1	Pathogenic	6	51613411	51613411	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51612795	51612795	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)	PKHD1	Pathogenic	6	51612690	51612691	C	CA	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	PKHD1	Pathogenic	6	51609213	51609213	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.3907del (p.Val1303fs)	PKHD1	Pathogenic	6	51890701	51890701	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.778+1G>C	PKHD1	Likely pathogenic	6	51934254	51934254	C	G	criteria provided, multiple submitters, no conflicts	-