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_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)	PKD1	Likely pathogenic	16	2152830	2152830	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)	PKD1	Pathogenic/Likely pathogenic	16	2152610	2152610	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)	PKD1	Pathogenic/Likely pathogenic	16	2152161	2152161	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)	PKD1	Likely pathogenic	16	2150534	2150534	C	G	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)	PKD1	Likely pathogenic	16	2149956	2149959	CGAGT	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)	PKD1	Likely pathogenic	16	2147478	2147478	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)	PKD1	Likely pathogenic	16	2147348	2147348	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter)	PKD1	Likely pathogenic	16	2142989	2142989	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)	PKD1	Likely pathogenic	16	2142069	2142069	T	C	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)	PKD1	Likely pathogenic	16	2141572	2141573	G	GT	criteria provided, single submitter	-