多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.10658T>A (p.Ile3553Asn)	PKHD1	Likely pathogenic	6	51524266	51524266	A	T	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10145del (p.Phe3382fs)	PKHD1	Likely pathogenic	6	51609194	51609194	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51640642	51640642	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51890278	51890278	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.3958_3959del (p.Gly1320fs)	PKHD1	Pathogenic	6	51890649	51890650	TCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)	PKHD1	Likely pathogenic	6	51892975	51892975	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51893047	51893047	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)	PKD1	Likely pathogenic	16	2139947	2139964	CCTGGTTGAGTCGGTCAAA	C	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)	PKD1	Likely pathogenic	16	2140385	2140386	T	TC	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)	PKD1	Likely pathogenic	16	2140563	2140564	CCA	C	criteria provided, single submitter	-