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.11249_11263del (p.Arg3750_Leu3754del)	PKD1	Likely pathogenic	16	2142487	2142501	TGCAGCCGCACCTGCC	T	criteria provided, single submitter	OMIM:601313.0003
single nucleotide variant	NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)	PKD2	Likely pathogenic	4	88979142	88979142	C	A	criteria provided, single submitter	ClinGen:CA220615
single nucleotide variant	NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly)	PKHD1	Likely pathogenic	6	51935229	51935229	T	C	criteria provided, single submitter	ClinGen:CA224089
single nucleotide variant	NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)	PKHD1	Likely pathogenic	6	51656066	51656066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224101
single nucleotide variant	NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys)	PKHD1	Likely pathogenic	6	51524260	51524260	A	T	criteria provided, single submitter	ClinGen:CA275363
single nucleotide variant	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB	Likely pathogenic	11	62394105	62394105	G	A	criteria provided, single submitter	ClinGen:CA10586211,OMIM:104160.0005
single nucleotide variant	NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)	PKHD1	Likely pathogenic	6	51887607	51887607	G	A	criteria provided, single submitter	ClinGen:CA501106
Deletion	NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)	PKHD1	Likely pathogenic	6	51524098	51524098	CT	C	criteria provided, single submitter	ClinGen:CA16041024
Duplication	NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)	PKHD1	Likely pathogenic	6	51524462	51524463	T	TC	criteria provided, single submitter	ClinGen:CA16041026
Deletion	NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)	PKHD1	Likely pathogenic	6	51524506	51524506	GA	G	criteria provided, single submitter	ClinGen:CA16041027