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.4890del (p.Asn1631fs)	PKHD1	Likely pathogenic	6	51889718	51889718	TC	T	criteria provided, single submitter	ClinGen:CA16041051
single nucleotide variant	NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	PKHD1	Pathogenic/Likely pathogenic	6	51889726	51889726	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852648
Duplication	NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51890014	51890015	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041053
Deletion	NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)	PKHD1	Likely pathogenic	6	51890034	51890034	AG	A	criteria provided, single submitter	ClinGen:CA16041054
Deletion	NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)	PKHD1	Likely pathogenic	6	51890051	51890051	CA	C	criteria provided, single submitter	ClinGen:CA16041055
Deletion	NM_138694.4(PKHD1):c.4141del (p.Val1381fs)	PKHD1	Pathogenic	6	51890467	51890467	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852770
Deletion	NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)	PKHD1	Likely pathogenic	6	51890487	51890487	TC	T	criteria provided, single submitter	ClinGen:CA16041056
Deletion	NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	PKHD1	Pathogenic/Likely pathogenic	6	51890668	51890668	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041057
Deletion	NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)	PKHD1	Pathogenic/Likely pathogenic	6	51890883	51890914	TAAGTTCACAATGTCACAGGACCGATTGCCCAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041058
single nucleotide variant	NM_138694.4(PKHD1):c.3561-2A>G	PKHD1	Likely pathogenic	6	51892696	51892696	T	C	criteria provided, single submitter	ClinGen:CA16041059