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
Duplication	NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)	PKHD1	Pathogenic/Likely pathogenic	6	51892985	51892986	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA275196
single nucleotide variant	NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51889548	51889548	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA244193
Deletion	NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)	PKHD1	Pathogenic	6	51887653	51887654	ACT	A	criteria provided, single submitter	ClinGen:CA275217
single nucleotide variant	NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)	PKHD1	Pathogenic	6	51750686	51750686	C	T	criteria provided, single submitter	ClinGen:CA275278
Duplication	NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)	PKHD1	Pathogenic	6	51732674	51732675	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275289
single nucleotide variant	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1	Pathogenic	6	51524705	51524705	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275361
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
Deletion	NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	PKHD1	Pathogenic/Likely pathogenic	6	51612855	51612855	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA276016
single nucleotide variant	NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	PKD1	Pathogenic/Likely pathogenic	16	2156249	2156249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204735
Duplication	NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)	PKHD1	Pathogenic	6	51732833	51732834	C	CA	criteria provided, single submitter	ClinGen:CA339528