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.11398+2T>C	PKHD1	Pathogenic/Likely pathogenic	6	51512827	51512827	A	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)	PKHD1	Pathogenic/Likely pathogenic	6	51890114	51890116	AGA	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51612795	51612795	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.1202-9G>A	PKD1	Pathogenic/Likely pathogenic	16	2167682	2167682	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)	PKD1	Pathogenic/Likely pathogenic	16	2168794	2168794	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160721	2160721	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160617	2160617	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160211	2160211	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)	PKD1	Pathogenic/Likely pathogenic	16	2155355	2155355	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)	PKD1	Pathogenic/Likely pathogenic	16	2152610	2152610	G	T	criteria provided, multiple submitters, no conflicts	-