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.1259A>G (p.Tyr420Cys)	PKD1	Likely pathogenic	16	2167616	2167616	T	C	criteria provided, single submitter	ClinGen:CA16043007
single nucleotide variant	NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)	PKD2	Pathogenic	4	88929030	88929030	C	T	criteria provided, single submitter	ClinGen:CA16043404
Indel	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	PKD2	Pathogenic	4	88929242	88929249	CCCGGGCA	TAGGACG	criteria provided, single submitter	ClinGen:CA16043405
Duplication	NM_138694.4(PKHD1):c.5081dup (p.Val1695fs)	PKHD1	Pathogenic	6	51889526	51889527	A	AC	criteria provided, single submitter	ClinGen:CA16043418
single nucleotide variant	NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	PKD1	Pathogenic/Likely pathogenic	16	2141795	2141795	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043503
single nucleotide variant	NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)	PKD1	Likely pathogenic	16	2152398	2152398	A	T	criteria provided, single submitter	ClinGen:CA16043504
single nucleotide variant	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1	Pathogenic/Likely pathogenic	16	2153747	2153747	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043505
single nucleotide variant	NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)	PKD1	Pathogenic	16	2160082	2160082	G	A	criteria provided, single submitter	ClinGen:CA16043506
single nucleotide variant	NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160322	2160322	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043507
single nucleotide variant	NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	PKD1	Pathogenic	16	2161648	2161648	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043509