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_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)	PKD1	Pathogenic	16	2153300	2153304	AGCCCG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.1202-9G>A	PKD1	Pathogenic/Likely pathogenic	16	2167682	2167682	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.8016+2T>C	PKD1	Likely pathogenic	16	2155321	2155321	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.10821+1del	PKD1	Likely pathogenic	16	2143811	2143811	AC	A	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.11412-2dup	PKD1	Likely pathogenic	16	2141908	2141909	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)	PKD1	Pathogenic/Likely pathogenic	16	2168794	2168794	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)	PKD1	Likely pathogenic	16	2167896	2167896	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)	PKD1	Likely pathogenic	16	2165464	2165464	G	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)	PKD1	Likely pathogenic	16	2164403	2164406	GCAGA	G	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)	PKD1	Pathogenic	16	2161098	2161098	CA	C	criteria provided, multiple submitters, no conflicts	-