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
single nucleotide variant	NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	PKHD1	Likely pathogenic	6	51613118	51613118	G	T	criteria provided, single submitter	ClinGen:CA3851414
single nucleotide variant	NM_001009944.3(PKD1):c.9398-1G>A	PKD1	Likely pathogenic	16	2150568	2150568	C	T	criteria provided, single submitter	ClinGen:CA394356711
single nucleotide variant	NM_001009944.3(PKD1):c.215+1G>C	PKD1	Pathogenic	16	2185475	2185475	C	G	criteria provided, single submitter	ClinGen:CA394282115
Deletion	NM_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2	Pathogenic	4	88940684	88940684	AC	A	criteria provided, single submitter	ClinGen:CA645372397
Deletion	NM_000297.4(PKD2):c.1094+3_1094+6del	PKD2	Pathogenic/Likely pathogenic	4	88959654	88959657	CGTAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372753
Duplication	NM_001009944.2(PKD1):c.8017-?_8161+?dup	PKD1	Likely pathogenic	16	2154499	2154643	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	PKD1	Pathogenic	16	2139928	2139928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394320489
single nucleotide variant	NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1	Pathogenic	16	2140803	2140803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7828876
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
Deletion	NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)	PKD1	Likely pathogenic	16	2153513	2153513	GC	G	criteria provided, single submitter	ClinGen:CA645373033