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.8095C>T (p.Gln2699Ter)	PKD1	Pathogenic	16	2154565	2154565	G	A	criteria provided, single submitter	ClinGen:CA394365419
Deletion	NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)	PKD1	Pathogenic	16	2156841	2156841	CG	C	criteria provided, single submitter	ClinGen:CA645373036
single nucleotide variant	NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)	PKD1	Pathogenic	16	2156878	2156878	G	C	criteria provided, single submitter	ClinGen:CA394371899
single nucleotide variant	NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	PKD1	Pathogenic	16	2158681	2158681	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394373464
single nucleotide variant	NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)	PKD1	Pathogenic	16	2158861	2158861	G	A	criteria provided, single submitter	ClinGen:CA394373822
single nucleotide variant	NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)	PKD1	Pathogenic	16	2158969	2158969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394374041
single nucleotide variant	NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)	PKD1	Pathogenic	16	2164809	2164809	G	A	criteria provided, single submitter	ClinGen:CA394388657
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
Deletion	Single allele	PKD1	Pathogenic	16	2149645	2158700	na	na	criteria provided, single submitter	-
Deletion	Single allele	PKD1	Pathogenic	16	2152062	2152634	na	na	criteria provided, single submitter	-