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_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)	PKD2	Pathogenic	4	88986956	88986959	AGTAC	A	criteria provided, single submitter	ClinGen:CA658796448
Deletion	NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	PKD1	Pathogenic	16	2168096	2168097	CAG	C	criteria provided, single submitter	ClinGen:CA658798518
single nucleotide variant	NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)	PKD1	Pathogenic	16	2155868	2155868	C	A	criteria provided, single submitter	ClinGen:CA394367599
Deletion	NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	PKD1	Pathogenic	16	2141572	2141573	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798504
single nucleotide variant	NM_001009944.3(PKD1):c.2854-2A>G	PKD1	Pathogenic	16	2163295	2163295	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394385866
Duplication	NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	PKD1	Pathogenic	16	2143887	2143888	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA620705424
Duplication	NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)	PKD1	Pathogenic	16	2158769	2158770	G	GA	criteria provided, single submitter	ClinGen:CA658798515
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_138694.4(PKHD1):c.10998del (p.Ile3666fs)	PKHD1	Pathogenic	6	51523926	51523926	CA	C	criteria provided, single submitter	ClinGen:CA658796775
single nucleotide variant	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1	Pathogenic	6	51524750	51524750	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851135