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.11338_11344dup (p.Asp3782fs)	PKD1	Pathogenic	16	2142114	2142115	T	TCGTAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656505
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.11257C>T (p.Arg3753Trp)	PKD1	Pathogenic	16	2142493	2142493	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	PKD1	Likely pathogenic	16	2142487	2142501	TGCAGCCGCACCTGCC	T	criteria provided, single submitter	OMIM:601313.0003
Deletion	NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)	PKD1	Pathogenic	16	2142544	2142550	TGGACGTA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	PKD1	Pathogenic/Likely pathogenic	16	2142574	2142574	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA394336466
single nucleotide variant	NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)	PKD1	Pathogenic	16	2142955	2142955	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394336677
single nucleotide variant	NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter)	PKD1	Likely pathogenic	16	2142989	2142989	C	A	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)	PKD1	Pathogenic	16	2143034	2143053	GAGGCATCCCCATAGCTGGCC	G	criteria provided, single submitter	ClinGen:CA658656506
single nucleotide variant	NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His)	PKD1	Likely pathogenic	16	2143600	2143600	A	T	criteria provided, single submitter	-