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.11074C>T (p.Arg3692Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51523850	51523850	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.383del (p.Thr128fs)	PKHD1	Pathogenic	6	51944705	51944705	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)	PKHD1	Pathogenic/Likely pathogenic	6	51890489	51890490	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51491833	51491833	G	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA	PKHD1	Pathogenic/Likely pathogenic	6	51768526	51768527	CT	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)	PKD1	Pathogenic	16	2147943	2147944	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)	PKD1	Pathogenic	16	2152890	2152890	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	PKD2	Pathogenic	4	88989098	88989098	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)	PKD1	Likely pathogenic	16	2139916	2139916	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)	PKD1	Likely pathogenic	16	2140021	2140048	CTTGTCCCCAGCCGGCCCAGGCTCACGCT	C	criteria provided, single submitter	-