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.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
Duplication	NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)	PKD1	Pathogenic	16	2165396	2165397	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043510
Deletion	NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)	PKD1	Pathogenic	16	2140419	2140420	AAC	A	criteria provided, single submitter	ClinGen:CA16609451
Duplication	NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)	PKD1	Pathogenic	16	2140416	2140417	A	ATAAC	criteria provided, single submitter	ClinGen:CA16620106
single nucleotide variant	NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)	PKD1	Pathogenic	16	2147228	2147228	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620107
Duplication	NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)	PKD1	Pathogenic	16	2152851	2152852	G	GCACCCTGGAGTGAC	criteria provided, single submitter	ClinGen:CA16620108
single nucleotide variant	NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)	PKD1	Pathogenic	16	2158255	2158255	G	A	criteria provided, single submitter	ClinGen:CA16620109
single nucleotide variant	NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)	PKD1	Pathogenic	16	2166565	2166565	G	A	criteria provided, single submitter	ClinGen:CA16620111
single nucleotide variant	NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)	PKD1	Likely pathogenic	16	2139957	2139957	C	G	criteria provided, single submitter	ClinGen:CA16621682