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_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1	Pathogenic/Likely pathogenic	6	51947999	51947999	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129366,UniProtKB:P08F94#VAR_014039,OMIM:606702.0001
single nucleotide variant	NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)	PKHD1	Pathogenic	6	51712669	51712669	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253011,OMIM:606702.0005
single nucleotide variant	NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	PKHD1	Pathogenic	6	51923147	51923147	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253014,OMIM:606702.0007
single nucleotide variant	NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)	PKHD1	Pathogenic	6	51524512	51524512	A	C	criteria provided, single submitter	ClinGen:CA253016,UniProtKB:P08F94#VAR_018590,OMIM:606702.0008
single nucleotide variant	NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	PKD1	Pathogenic	16	2140689	2140689	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119364,OMIM:601313.0002
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