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_198334.3(GANAB):c.1848_1849del (p.Asp618fs)	GANAB	Pathogenic	11	62396753	62396754	CCT	C	criteria provided, single submitter	ClinGen:CA10586208,OMIM:104160.0002
Deletion	NM_198334.3(GANAB):c.2624+2_2624+7del	GANAB	Pathogenic	11	62393800	62393805	CCCATTA	C	criteria provided, single submitter	ClinGen:CA10586210,OMIM:104160.0004
single nucleotide variant	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB	Likely pathogenic	11	62394105	62394105	G	A	criteria provided, single submitter	ClinGen:CA10586211,OMIM:104160.0005
single nucleotide variant	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Pathogenic	4	88959654	88959654	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602942
Deletion	NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	PKHD1	Pathogenic	6	51524287	51524287	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851042
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
Deletion	NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)	PKHD1	Pathogenic	6	51695771	51695771	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604549
single nucleotide variant	NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)	PKHD1	Likely pathogenic	6	51887607	51887607	G	A	criteria provided, single submitter	ClinGen:CA501106
single nucleotide variant	NM_138694.4(PKHD1):c.707+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51935203	51935203	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3853807
single nucleotide variant	NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1	Pathogenic	6	51618079	51618079	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851503,UniProtKB:P08F94#VAR_014058