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
Duplication	NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer)	PKD1	Likely pathogenic	16	2140945	2140946	C	CGCCACCTGGTCGAAGCTAGTGA	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	PKD1	Pathogenic	16	2140752	2140752	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)	PKD1	Likely pathogenic	16	2140745	2140769	CAGAGCTCGGCATAATGTCTTGCCAA	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)	PKD1	Likely pathogenic	16	2140563	2140564	CCA	C	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)	PKD1	Likely pathogenic	16	2140385	2140386	T	TC	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)	PKD1	Likely pathogenic	16	2139947	2139964	CCTGGTTGAGTCGGTCAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)	PKD1	Likely pathogenic	16	2159338	2159338	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.6916-9G>A	PKD1	Pathogenic/Likely pathogenic	16	2158042	2158042	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)	PKD1	Likely pathogenic	16	2159474	2159475	C	CA	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.7111del (p.Val2371fs)	PKD1	Pathogenic	16	2156904	2156904	AC	A	criteria provided, single submitter	-