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.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
Duplication	NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)	PKD1	Likely pathogenic	16	2142484	2142485	C	CCTGCAGCCGCACCTG	criteria provided, single submitter	ClinGen:CA16042936
single nucleotide variant	NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe)	PKD1	Likely pathogenic	16	2166917	2166917	C	A	criteria provided, single submitter	ClinGen:CA16042982
Deletion	NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)	PKD1	Pathogenic/Likely pathogenic	16	2153689	2153689	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043003
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_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