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_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	PKD1	Likely pathogenic	16	2142487	2142501	TGCAGCCGCACCTGCC	T	criteria provided, single submitter	OMIM:601313.0003
single nucleotide variant	NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	PKD1	Pathogenic	16	2139958	2139958	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119367,OMIM:601313.0004
single nucleotide variant	NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)	PKD1	Pathogenic	16	2141807	2141807	G	A	criteria provided, single submitter	ClinGen:CA119370,OMIM:601313.0005
single nucleotide variant	NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	PKD1	Pathogenic	16	2141862	2141862	G	T	criteria provided, single submitter	ClinGen:CA119376,OMIM:601313.0007
single nucleotide variant	NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)	PKD1	Pathogenic	16	2140777	2140777	C	T	criteria provided, multiple submitters, no conflicts	OMIM:601313.0008
single nucleotide variant	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1	Pathogenic/Likely pathogenic	16	2164490	2164490	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119381,UniProtKB:P98161#VAR_010086,OMIM:601313.0012
single nucleotide variant	NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)	PKD1	Pathogenic	16	2159404	2159404	G	A	criteria provided, single submitter	ClinGen:CA119383,OMIM:601313.0013
Deletion	NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)	PKD1	Pathogenic	16	2141582	2141582	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA210902
single nucleotide variant	NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	PKD1	Pathogenic/Likely pathogenic	16	2156249	2156249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204735
single nucleotide variant	NM_001009944.3(PKD1):c.1722+2T>C	PKD1	Pathogenic/Likely pathogenic	16	2166528	2166528	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603314