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.3367G>A (p.Gly1123Ser)	PKHD1	Pathogenic/Likely pathogenic	6	51893147	51893147	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274186,UniProtKB:P08F94#VAR_018542
single nucleotide variant	NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51908434	51908434	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274389
single nucleotide variant	NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	PKHD1	Pathogenic/Likely pathogenic	6	51914955	51914955	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P08F94#VAR_014044,ClinGen:CA274068
single nucleotide variant	NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	PKHD1	Pathogenic	6	51918920	51918920	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274375
single nucleotide variant	NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51920391	51920391	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274378
single nucleotide variant	NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51923153	51923153	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274284
single nucleotide variant	NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51923175	51923175	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274453
Deletion	NM_138694.4(PKHD1):c.711_714del (p.Met238fs)	PKHD1	Pathogenic	6	51934319	51934322	CCATT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274187
single nucleotide variant	NM_138694.4(PKHD1):c.765C>G (p.Tyr255Ter)	PKHD1	Pathogenic	6	51934268	51934268	G	C	criteria provided, single submitter	ClinGen:CA274961
single nucleotide variant	NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	PKHD1	Pathogenic/Likely pathogenic	6	51907900	51907900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275144