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_000297.4(PKD2):c.145C>T (p.Gln49Ter)	PKD2	Pathogenic	4	88929030	88929030	C	T	criteria provided, single submitter	ClinGen:CA16043404
single nucleotide variant	NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)	GANAB	Pathogenic	11	62406902	62406902	G	A	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)	GANAB	Likely pathogenic	11	62394111	62394111	G	A	criteria provided, single submitter	-
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
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_138694.4(PKHD1):c.1A>G (p.Met1Val)	PKHD1	Pathogenic/Likely pathogenic	6	51949731	51949731	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)	PKHD1	Likely pathogenic	6	51949725	51949728	GCAGT	G	criteria provided, single submitter	ClinGen:CA16041075
single nucleotide variant	NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51949721	51949721	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.53-2A>G	PKHD1	Likely pathogenic	6	51948055	51948055	T	C	criteria provided, single submitter	-