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.11538-2del	PKD1	Pathogenic	16	2141600	2141600	CT	C	criteria provided, single submitter	ClinGen:CA645509210
single nucleotide variant	NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	PKD1	Pathogenic/Likely pathogenic	16	2141795	2141795	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043503
single nucleotide variant	NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)	PKD1	Pathogenic	16	2141807	2141807	G	A	criteria provided, single submitter	ClinGen:CA119370,OMIM:601313.0005
single nucleotide variant	NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)	PKD1	Pathogenic	16	2141858	2141858	G	A	criteria provided, single submitter	ClinGen:CA394333122
single nucleotide variant	NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	PKD1	Pathogenic	16	2141862	2141862	G	T	criteria provided, single submitter	ClinGen:CA119376,OMIM:601313.0007
Duplication	NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)	PKD1	Pathogenic	16	2141865	2141866	G	GC	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.11412-2dup	PKD1	Likely pathogenic	16	2141908	2141909	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.11412-2A>C	PKD1	Pathogenic	16	2141909	2141909	T	G	criteria provided, single submitter	ClinGen:CA394333612
single nucleotide variant	NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)	PKD1	Likely pathogenic	16	2142069	2142069	T	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1	Pathogenic	16	2142080	2142080	TC	T	criteria provided, multiple submitters, no conflicts	-