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_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)	PKD1	Pathogenic	16	2142955	2142955	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394336677
Deletion	NM_001009944.3(PKD1):c.11538-2del	PKD1	Pathogenic	16	2141600	2141600	CT	C	criteria provided, single submitter	ClinGen:CA645509210
Deletion	NM_001009944.3(PKD1):c.11912del (p.Pro3971fs)	PKD1	Pathogenic	16	2140976	2140976	CG	C	criteria provided, single submitter	ClinGen:CA645509208
single nucleotide variant	NM_000297.4(PKD2):c.2523-1G>A	PKD2	Pathogenic	4	88995963	88995963	G	A	criteria provided, single submitter	ClinGen:CA357627494
Deletion	NM_000297.4(PKD2):c.2159del (p.Asn720fs)	PKD2	Pathogenic	4	88986559	88986559	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004147
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.2524del (p.Leu842fs)	PKD2	Pathogenic	4	88995964	88995964	GC	G	criteria provided, single submitter	ClinGen:CA645509148
Deletion	Single allele	PKD1	Pathogenic	16	2152062	2152634	na	na	criteria provided, single submitter	-
Deletion	Single allele	PKD1	Pathogenic	16	2149645	2158700	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)	PKD1	Pathogenic	16	2166857	2166857	T	C	criteria provided, single submitter	ClinGen:CA394391699