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_138694.4(PKHD1):c.5953del (p.Ala1985fs)	PKHD1	Pathogenic	6	51799076	51799076	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.5751+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51875106	51875106	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.596-1G>T	PKD2	Pathogenic	4	88940609	88940609	G	T	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)	PKD2	Pathogenic	4	88995967	88995967	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)	PKD1	Pathogenic	16	2141865	2141866	G	GC	criteria provided, single submitter	-
Indel	NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs)	PKD1	Pathogenic	16	2147229	2147231	GAT	A	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Pathogenic/Likely pathogenic	16	2147826	2147844	GCAGGACCCCCAGCCCAGCC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)	PKD1	Pathogenic	16	2147952	2147952	G	A	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs)	PKD1	Pathogenic	16	2149668	2149669	G	GA	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.9412dup (p.Val3138fs)	PKD1	Pathogenic	16	2150552	2150553	A	AC	criteria provided, single submitter	-