多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.9998+1G>T	PKHD1	Likely pathogenic	6	51611518	51611518	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51609308	51609308	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224050
Deletion	NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609294	51609303	GGACTTGCACA	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)	PKHD1	Likely pathogenic	6	51609252	51609253	CC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609229	51609230	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041029
Deletion	NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	PKHD1	Pathogenic	6	51609213	51609213	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609203	51609203	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10145del (p.Phe3382fs)	PKHD1	Likely pathogenic	6	51609194	51609194	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1	Pathogenic	6	51524750	51524750	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851135
Deletion	NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)	PKHD1	Likely pathogenic	6	51524734	51524738	TTGGTA	T	criteria provided, single submitter	ClinGen:CA3851132