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.12724C>T (p.Gln4242Ter)	PKD1	Likely pathogenic	16	2139916	2139916	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1	Pathogenic	16	2139928	2139928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394320489
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.12691C>T (p.Gln4231Ter)	PKD1	Pathogenic/Likely pathogenic	16	2139949	2139949	G	A	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	PKD1	Pathogenic	16	2139958	2139958	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119367,OMIM:601313.0004
Deletion	NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)	PKD1	Likely pathogenic	16	2140021	2140048	CTTGTCCCCAGCCGGCCCAGGCTCACGCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter)	PKD1	Pathogenic	16	2140376	2140376	G	T	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	-
Duplication	NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)	PKD1	Pathogenic	16	2140416	2140417	A	ATAAC	criteria provided, single submitter	ClinGen:CA16620106