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
Deletion	NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)	PKD1	Pathogenic	16	2140419	2140420	AAC	A	criteria provided, single submitter	ClinGen:CA16609451
Deletion	NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)	PKD1	Pathogenic	16	2140451	2140452	GCA	G	criteria provided, single submitter	ClinGen:CA658798502
Deletion	NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs)	PKD1	Likely pathogenic	16	2140491	2140500	CCAGGACTCGG	C	criteria provided, single submitter	ClinGen:CA658653829
Deletion	NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)	PKD1	Likely pathogenic	16	2140563	2140564	CCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	PKD1	Pathogenic	16	2140689	2140689	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119364,OMIM:601313.0002
Deletion	NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)	PKD1	Likely pathogenic	16	2140745	2140769	CAGAGCTCGGCATAATGTCTTGCCAA	C	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	-
single nucleotide variant	NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)	PKD1	Pathogenic	16	2140777	2140777	C	T	criteria provided, multiple submitters, no conflicts	OMIM:601313.0008
single nucleotide variant	NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	PKD1	Pathogenic	16	2140778	2140778	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7828865
single nucleotide variant	NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	PKD1	Pathogenic	16	2140782	2140782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394328039