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_000297.4(PKD2):c.538dup (p.Leu180fs)	PKD2	Pathogenic	4	88929418	88929419	T	TC	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.514del (p.Asp172fs)	PKD2	Pathogenic	4	88929396	88929396	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657391
Deletion	NM_000297.4(PKD2):c.481_502del (p.Gly161fs)	PKD2	Pathogenic	4	88929362	88929383	ACCAGGGCCCGCCGTGCCCCAGC	A	criteria provided, single submitter	ClinGen:CA645509147
Deletion	NM_000297.4(PKD2):c.473del (p.Glu158fs)	PKD2	Pathogenic	4	88929358	88929358	GA	G	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.443del (p.Gly148fs)	PKD2	Pathogenic	4	88929326	88929326	CG	C	criteria provided, single submitter	-
Indel	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	PKD2	Pathogenic	4	88929242	88929249	CCCGGGCA	TAGGACG	criteria provided, single submitter	ClinGen:CA16043405
Duplication	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	PKD2	Pathogenic	4	88929082	88929083	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657390,OMIM:173910.0007
single nucleotide variant	NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	PKD2	Likely pathogenic	4	88929066	88929066	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)	PKD2	Pathogenic	4	88929030	88929030	C	T	criteria provided, single submitter	ClinGen:CA16043404
Deletion	NC_000004.12:g.(?_88007714)_(88075714_?)del	PKD2	Pathogenic	4	88928866	88996866	na	na	criteria provided, single submitter	-