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.8068T>C (p.Trp2690Arg)	PKHD1	Pathogenic/Likely pathogenic	6	51712612	51712612	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10624394
single nucleotide variant	NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)	PKD1	Pathogenic	16	2144128	2144128	C	T	criteria provided, single submitter	ClinGen:CA10654768
single nucleotide variant	NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)	PKD1	Pathogenic	16	2161625	2161625	A	T	criteria provided, single submitter	ClinGen:CA10654923
Deletion	NM_138694.4(PKHD1):c.11776del (p.Val3926fs)	PKHD1	Pathogenic/Likely pathogenic	6	51491804	51491804	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041021
single nucleotide variant	NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51512913	51512913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041022
Deletion	NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)	PKHD1	Pathogenic/Likely pathogenic	6	51523951	51523952	GAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041023
Deletion	NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)	PKHD1	Likely pathogenic	6	51524098	51524098	CT	C	criteria provided, single submitter	ClinGen:CA16041024
single nucleotide variant	NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51524215	51524215	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041025
Duplication	NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)	PKHD1	Likely pathogenic	6	51524462	51524463	T	TC	criteria provided, single submitter	ClinGen:CA16041026
Deletion	NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)	PKHD1	Likely pathogenic	6	51524506	51524506	GA	G	criteria provided, single submitter	ClinGen:CA16041027