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.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.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.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.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.7137C>G (p.Tyr2379Ter)	PKD1	Pathogenic	16	2156878	2156878	G	C	criteria provided, single submitter	ClinGen:CA394371899
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.8095C>T (p.Gln2699Ter)	PKD1	Pathogenic	16	2154565	2154565	G	A	criteria provided, single submitter	ClinGen:CA394365419
single nucleotide variant	NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)	PKD1	Pathogenic	16	2141858	2141858	G	A	criteria provided, single submitter	ClinGen:CA394333122
single nucleotide variant	NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1	Pathogenic	16	2140803	2140803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7828876
single nucleotide variant	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1	Pathogenic	16	2139928	2139928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394320489