PCLD2
MCID: PLY173
MIFTS: 23

Polycystic Liver Disease 2 with or Without Kidney Cysts (PCLD2)

Categories: Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 2 with or Without Kidney Cysts 56 73
Polycystic Liver Disease 2 56 29 6
Pcld2 56 73
Liver Disease, Polycystic, Type 2 39

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal disease

Inheritance:
autosomal dominant


HPO:

31
polycystic liver disease 2 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 617004
OMIM Phenotypic Series 56 PS174050
SNOMED-CT via HPO 68 263681008 80515008 85057007

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM : 56 PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617004)

MalaCards based summary : Polycystic Liver Disease 2 with or Without Kidney Cysts, is also known as polycystic liver disease 2. An important gene associated with Polycystic Liver Disease 2 with or Without Kidney Cysts is SEC63 (SEC63 Homolog, Protein Translocation Regulator). Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and hepatic cysts

UniProtKB/Swiss-Prot : 73 Polycystic liver disease 2 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.

Related Diseases for Polycystic Liver Disease 2 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 hepatic cysts 31 HP:0001407

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
liver cysts

Genitourinary Kidneys:
renal cysts, few (in some patients)

Clinical features from OMIM:

617004

Drugs & Therapeutics for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 2 29 SEC63

Anatomical Context for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

40
Liver, Kidney

Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in SEC63 cause autosomal dominant polycystic liver disease. 6 56
15133510 2004
2
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. 56
24886261 2014
3
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. 56
8591848 1996
4
[Polycistic liver disease. The hepato-biliary sequential scintigraphy in comparison with other diagnostic procedures (author's transl)]. 61
905562 1977

Variations for Polycystic Liver Disease 2 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 2 with or Without Kidney Cysts:

6 (showing 137, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC63 NM_007214.5(SEC63):c.514+1G>ASNV Pathogenic 522474 rs1554236269 6:108234569-108234569 6:107913365-107913365
2 SEC63 NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)SNV Pathogenic 2167 rs119103233 6:108250670-108250670 6:107929466-107929466
3 SEC63 NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)insertion Pathogenic 2168 rs886041027 6:108243010-108243011 6:107921806-107921807
4 SEC63 NM_007214.5(SEC63):c.733+1G>ASNV Pathogenic 2169 rs886041028 6:108230130-108230130 6:107908926-107908926
5 SEC63 NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del)short repeat Conflicting interpretations of pathogenicity 354899 rs752018806 6:108204320-108204322 6:107883116-107883118
6 SEC63 NM_007214.5(SEC63):c.1675-15G>CSNV Uncertain significance 354900 rs886060954 6:108204365-108204365 6:107883161-107883161
7 SEC63 NM_007214.5(SEC63):c.828+13T>CSNV Uncertain significance 354909 rs886060955 6:108227874-108227874 6:107906670-107906670
8 SEC63 NM_007214.5(SEC63):c.225-10T>ASNV Uncertain significance 354919 rs886060958 6:108246146-108246146 6:107924942-107924942
9 SEC63 NM_007214.5(SEC63):c.*3800A>GSNV Uncertain significance 354808 rs886060934 6:108189108-108189108 6:107867904-107867904
10 SEC63 NM_007214.5(SEC63):c.*3772G>ASNV Uncertain significance 354809 rs886060935 6:108189136-108189136 6:107867932-107867932
11 SEC63 NM_007214.5(SEC63):c.*3510T>ASNV Uncertain significance 354814 rs555871275 6:108189398-108189398 6:107868194-107868194
12 SEC63 NM_007214.5(SEC63):c.*3171G>CSNV Uncertain significance 354829 rs542434422 6:108189737-108189737 6:107868533-107868533
13 SEC63 NM_007214.5(SEC63):c.*2624T>CSNV Uncertain significance 354843 rs368337970 6:108190284-108190284 6:107869080-107869080
14 SEC63 NM_007214.5(SEC63):c.*1433T>CSNV Uncertain significance 354870 rs886060951 6:108191475-108191475 6:107870271-107870271
15 SEC63 NM_007214.5(SEC63):c.*514T>CSNV Uncertain significance 354880 rs557190642 6:108192394-108192394 6:107871190-107871190
16 SEC63 NM_007214.5(SEC63):c.*396T>CSNV Uncertain significance 354882 rs368205255 6:108192512-108192512 6:107871308-107871308
17 SEC63 NM_007214.5(SEC63):c.*2223G>ASNV Uncertain significance 354850 rs9986549 6:108190685-108190685 6:107869481-107869481
18 SEC63 NM_007214.5(SEC63):c.*129G>ASNV Uncertain significance 354887 rs552904217 6:108192779-108192779 6:107871575-107871575
19 SEC63 NM_007214.5(SEC63):c.*3210C>TSNV Uncertain significance 354828 rs570848637 6:108189698-108189698 6:107868494-107868494
20 SEC63 NM_007214.5(SEC63):c.*1108A>GSNV Uncertain significance 354877 rs560882192 6:108191800-108191800 6:107870596-107870596
21 SEC63 NM_007214.5(SEC63):c.*3704C>GSNV Uncertain significance 354811 rs554141897 6:108189204-108189204 6:107868000-107868000
22 SEC63 NM_007214.5(SEC63):c.*2833A>CSNV Uncertain significance 354839 rs886060942 6:108190075-108190075 6:107868871-107868871
23 SEC63 NM_007214.5(SEC63):c.*2607G>CSNV Uncertain significance 354844 rs549810875 6:108190301-108190301 6:107869097-107869097
24 SEC63 NM_007214.5(SEC63):c.*3434A>GSNV Uncertain significance 354823 rs886060938 6:108189474-108189474 6:107868270-107868270
25 SEC63 NM_007214.5(SEC63):c.*3107T>CSNV Uncertain significance 354833 rs778940501 6:108189801-108189801 6:107868597-107868597
26 SEC63 NM_007214.5(SEC63):c.*2876T>CSNV Uncertain significance 354837 rs375514344 6:108190032-108190032 6:107868828-107868828
27 SEC63 NM_007214.5(SEC63):c.*2862A>GSNV Uncertain significance 354838 rs886060941 6:108190046-108190046 6:107868842-107868842
28 SEC63 NM_007214.5(SEC63):c.*1113T>CSNV Uncertain significance 354876 rs886060953 6:108191795-108191795 6:107870591-107870591
29 SEC63 NM_007214.5(SEC63):c.*2522G>CSNV Uncertain significance 354845 rs886060943 6:108190386-108190386 6:107869182-107869182
30 SEC63 NM_007214.5(SEC63):c.*1941C>TSNV Uncertain significance 354853 rs886060944 6:108190967-108190967 6:107869763-107869763
31 SEC63 NM_007214.5(SEC63):c.*1685A>CSNV Uncertain significance 354866 rs558069212 6:108191223-108191223 6:107870019-107870019
32 SEC63 NM_007214.5(SEC63):c.*1471A>GSNV Uncertain significance 354869 rs886060950 6:108191437-108191437 6:107870233-107870233
33 SEC63 NM_007214.5(SEC63):c.*1343G>ASNV Uncertain significance 354873 rs886060952 6:108191565-108191565 6:107870361-107870361
34 SEC63 NM_007214.5(SEC63):c.*358T>CSNV Uncertain significance 354884 rs529945456 6:108192550-108192550 6:107871346-107871346
35 SEC63 NM_007214.5(SEC63):c.910C>A (p.Leu304Ile)SNV Uncertain significance 354908 rs745328381 6:108227703-108227703 6:107906499-107906499
36 SEC63 NM_007214.5(SEC63):c.*3819A>GSNV Uncertain significance 904008 6:108189089-108189089 6:107867885-107867885
37 SEC63 NM_007214.5(SEC63):c.*3489A>GSNV Uncertain significance 905882 6:108189419-108189419 6:107868215-107868215
38 SEC63 NM_007214.5(SEC63):c.*3456T>CSNV Uncertain significance 905883 6:108189452-108189452 6:107868248-107868248
39 SEC63 NM_007214.5(SEC63):c.*3430A>GSNV Uncertain significance 906399 6:108189478-108189478 6:107868274-107868274
40 SEC63 NM_007214.5(SEC63):c.452C>T (p.Ala151Val)SNV Uncertain significance 905039 6:108243001-108243001 6:107921797-107921797
41 SEC63 NM_007214.5(SEC63):c.374G>A (p.Arg125His)SNV Uncertain significance 905040 6:108243079-108243079 6:107921875-107921875
42 SEC63 NM_007214.5(SEC63):c.-148T>GSNV Uncertain significance 905041 6:108279361-108279361 6:107958157-107958157
43 SEC63 NM_007214.5(SEC63):c.1936-4C>TSNV Uncertain significance 907578 6:108197870-108197870 6:107876666-107876666
44 SEC63 NM_007214.5(SEC63):c.1441-9G>TSNV Uncertain significance 907579 6:108215110-108215110 6:107893906-107893906
45 SEC63 NM_007214.5(SEC63):c.1441-10C>TSNV Uncertain significance 907580 6:108215111-108215111 6:107893907-107893907
46 SEC63 NM_007214.5(SEC63):c.*1071G>CSNV Uncertain significance 907518 6:108191837-108191837 6:107870633-107870633
47 SEC63 NM_007214.5(SEC63):c.*1061G>ASNV Uncertain significance 907519 6:108191847-108191847 6:107870643-107870643
48 SEC63 NM_007214.5(SEC63):c.*1037A>GSNV Uncertain significance 907520 6:108191871-108191871 6:107870667-107870667
49 SEC63 NM_007214.5(SEC63):c.*936C>TSNV Uncertain significance 907521 6:108191972-108191972 6:107870768-107870768
50 SEC63 NM_007214.5(SEC63):c.*874A>GSNV Uncertain significance 907522 6:108192034-108192034 6:107870830-107870830
51 SEC63 NM_007214.5(SEC63):c.*577C>TSNV Uncertain significance 904191 6:108192331-108192331 6:107871127-107871127
52 SEC63 NM_007214.5(SEC63):c.*549C>TSNV Uncertain significance 904192 6:108192359-108192359 6:107871155-107871155
53 SEC63 NM_007214.5(SEC63):c.*437A>GSNV Uncertain significance 904193 6:108192471-108192471 6:107871267-107871267
54 SEC63 NM_007214.5(SEC63):c.*432G>TSNV Uncertain significance 904194 6:108192476-108192476 6:107871272-107871272
55 SEC63 NM_007214.5(SEC63):c.*432G>ASNV Uncertain significance 904195 6:108192476-108192476 6:107871272-107871272
56 SEC63 NM_007214.5(SEC63):c.*273A>CSNV Uncertain significance 904975 6:108192635-108192635 6:107871431-107871431
57 SEC63 NM_007214.5(SEC63):c.*24T>CSNV Uncertain significance 906563 6:108192884-108192884 6:107871680-107871680
58 SEC63 NM_007214.5(SEC63):c.*3133C>ASNV Uncertain significance 907404 6:108189775-108189775 6:107868571-107868571
59 SEC63 NM_007214.5(SEC63):c.*3116T>CSNV Uncertain significance 907405 6:108189792-108189792 6:107868588-107868588
60 SEC63 NM_007214.5(SEC63):c.*3032A>GSNV Uncertain significance 904070 6:108189876-108189876 6:107868672-107868672
61 SEC63 NM_007214.5(SEC63):c.*2946C>TSNV Uncertain significance 904071 6:108189962-108189962 6:107868758-107868758
62 SEC63 NM_007214.5(SEC63):c.*2791T>CSNV Uncertain significance 904072 6:108190117-108190117 6:107868913-107868913
63 SEC63 NM_007214.5(SEC63):c.*2783G>ASNV Uncertain significance 904848 6:108190125-108190125 6:107868921-107868921
64 SEC63 NM_007214.5(SEC63):c.*2704A>GSNV Uncertain significance 904849 6:108190204-108190204 6:107869000-107869000
65 SEC63 NM_007214.5(SEC63):c.*2618C>ASNV Uncertain significance 904850 6:108190290-108190290 6:107869086-107869086
66 SEC63 NM_007214.5(SEC63):c.*2465C>TSNV Uncertain significance 906465 6:108190443-108190443 6:107869239-107869239
67 SEC63 NM_007214.5(SEC63):c.*2379G>CSNV Uncertain significance 906466 6:108190529-108190529 6:107869325-107869325
68 SEC63 NM_007214.5(SEC63):c.*2301A>GSNV Uncertain significance 906467 6:108190607-108190607 6:107869403-107869403
69 SEC63 NM_007214.5(SEC63):c.*2287G>TSNV Uncertain significance 906468 6:108190621-108190621 6:107869417-107869417
70 SEC63 NM_007214.5(SEC63):c.*2131C>TSNV Uncertain significance 907455 6:108190777-108190777 6:107869573-107869573
71 SEC63 NM_007214.5(SEC63):c.*2041A>GSNV Uncertain significance 907456 6:108190867-108190867 6:107869663-107869663
72 SEC63 NM_007214.5(SEC63):c.*1931A>CSNV Uncertain significance 907457 6:108190977-108190977 6:107869773-107869773
73 SEC63 NM_007214.5(SEC63):c.*1832A>GSNV Uncertain significance 904137 6:108191076-108191076 6:107869872-107869872
74 SEC63 NM_007214.5(SEC63):c.*1760T>CSNV Uncertain significance 904138 6:108191148-108191148 6:107869944-107869944
75 SEC63 NM_007214.5(SEC63):c.*1725G>CSNV Uncertain significance 904139 6:108191183-108191183 6:107869979-107869979
76 SEC63 NM_007214.5(SEC63):c.*1696G>ASNV Uncertain significance 904140 6:108191212-108191212 6:107870008-107870008
77 SEC63 NM_007214.5(SEC63):c.*1655G>ASNV Uncertain significance 904914 6:108191253-108191253 6:107870049-107870049
78 SEC63 NM_007214.5(SEC63):c.*1650G>ASNV Uncertain significance 904915 6:108191258-108191258 6:107870054-107870054
79 SEC63 NM_007214.5(SEC63):c.*1568G>ASNV Uncertain significance 904916 6:108191340-108191340 6:107870136-107870136
80 SEC63 NM_007214.5(SEC63):c.*1475C>TSNV Uncertain significance 904917 6:108191433-108191433 6:107870229-107870229
81 SEC63 NM_007214.5(SEC63):c.*1420T>GSNV Uncertain significance 906510 6:108191488-108191488 6:107870284-107870284
82 SEC63 NM_007214.5(SEC63):c.2034+10A>GSNV Likely benign 354891 rs200406751 6:108197758-108197758 6:107876554-107876554
83 SEC63 NM_007214.5(SEC63):c.*1230T>CSNV Likely benign 354874 rs188437808 6:108191678-108191678 6:107870474-107870474
84 SEC63 NM_007214.5(SEC63):c.*396T>ASNV Likely benign 354883 rs368205255 6:108192512-108192512 6:107871308-107871308
85 SEC63 NM_007214.5(SEC63):c.*257A>GSNV Likely benign 354885 rs148053936 6:108192651-108192651 6:107871447-107871447
86 SEC63 NM_007214.5(SEC63):c.1176G>A (p.Glu392=)SNV Likely benign 354907 rs61754483 6:108224081-108224081 6:107902877-107902877
87 SEC63 NM_007214.5(SEC63):c.*3469T>GSNV Likely benign 354822 rs540628373 6:108189439-108189439 6:107868235-107868235
88 SEC63 NM_007214.5(SEC63):c.237G>A (p.Leu79=)SNV Likely benign 354917 rs146134069 6:108246124-108246124 6:107924920-107924920
89 SEC63 NM_007214.5(SEC63):c.2205G>C (p.Gly735=)SNV Likely benign 354889 rs761321161 6:108192986-108192986 6:107871782-107871782
90 SEC63 NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)SNV Likely benign 354918 rs140251976 6:108246131-108246131 6:107924927-107924927
91 SEC63 NM_007214.5(SEC63):c.882C>T (p.Thr294=)SNV Likely benign 904250 6:108227731-108227731 6:107906527-107906527
92 SEC63 NM_007214.5(SEC63):c.-77C>TSNV Benign 354921 rs2272884 6:108279290-108279290 6:107958086-107958086
93 SEC63 NM_007214.5(SEC63):c.1674T>C (p.Asn558=)SNV Benign 354901 rs143570743 6:108214686-108214686 6:107893482-107893482
94 SEC63 NM_007214.5(SEC63):c.1278C>T (p.Phe426=)SNV Benign 354905 rs146559698 6:108222653-108222653 6:107901449-107901449
95 SEC63 NM_007214.5(SEC63):c.2134T>C (p.Leu712=)SNV Benign 354890 rs61733387 6:108194017-108194017 6:107872813-107872813
96 SEC63 NM_007214.5(SEC63):c.*3501A>GSNV Benign 354816 rs377612532 6:108189407-108189407 6:107868203-107868203
97 SEC63 NM_007214.5(SEC63):c.*3334C>TSNV Benign 354827 rs112894937 6:108189574-108189574 6:107868370-107868370
98 SEC63 NM_007214.5(SEC63):c.*861A>GSNV Benign 354879 rs9480810 6:108192047-108192047 6:107870843-107870843
99 SEC63 NM_007214.5(SEC63):c.*411C>TSNV Benign 354881 rs140498555 6:108192497-108192497 6:107871293-107871293
100 SEC63 NM_007214.5(SEC63):c.*123T>ASNV Benign 354888 rs503068 6:108192785-108192785 6:107871581-107871581
101 SEC63 NM_007214.5(SEC63):c.*3170C>TSNV Benign 354830 rs12529777 6:108189738-108189738 6:107868534-107868534
102 SEC63 NM_007214.5(SEC63):c.*3128G>ASNV Benign 354831 rs114322175 6:108189780-108189780 6:107868576-107868576
103 SEC63 NM_007214.5(SEC63):c.*2886A>CSNV Benign 354836 rs182441835 6:108190022-108190022 6:107868818-107868818
104 SEC63 NM_007214.5(SEC63):c.*2811C>TSNV Benign 354840 rs74799313 6:108190097-108190097 6:107868893-107868893
105 SEC63 NM_007214.5(SEC63):c.*2456G>ASNV Benign 354848 rs151325651 6:108190452-108190452 6:107869248-107869248
106 SEC63 NM_007214.5(SEC63):c.*2086G>CSNV Benign 354851 rs550478845 6:108190822-108190822 6:107869618-107869618
107 SEC63 NM_007214.5(SEC63):c.*1705G>ASNV Benign 354865 rs672444 6:108191203-108191203 6:107869999-107869999
108 SEC63 NM_007214.5(SEC63):c.*1612T>CSNV Benign 354867 rs76842245 6:108191296-108191296 6:107870092-107870092
109 SEC63 NM_007214.5(SEC63):c.*1526T>CSNV Benign 354868 rs557911 6:108191382-108191382 6:107870178-107870178
110 SEC63 NM_007214.5(SEC63):c.*1398A>CSNV Benign 354871 rs556907 6:108191510-108191510 6:107870306-107870306
111 SEC63 NM_007214.5(SEC63):c.1441-5C>TSNV Benign 354904 rs370312823 6:108215106-108215106 6:107893902-107893902
112 SEC63 NM_007214.5(SEC63):c.*1901A>GSNV Benign 354861 rs10872020 6:108191007-108191007 6:107869803-107869803
113 SEC63 NM_007214.5(SEC63):c.*256T>CSNV Benign 354886 rs111637159 6:108192652-108192652 6:107871448-107871448
114 SEC63 NM_007214.5(SEC63):c.*2376A>TSNV Benign 354849 rs78776458 6:108190532-108190532 6:107869328-107869328
115 SEC63 NM_007214.5(SEC63):c.*3127C>TSNV Benign 354832 rs541730962 6:108189781-108189781 6:107868577-107868577
116 SEC63 NM_007214.5(SEC63):c.*3498C>TSNV Benign 354818 rs577860076 6:108189410-108189410 6:107868206-107868206
117 SEC63 NM_007214.5(SEC63):c.*3497A>GSNV Benign 354819 rs6933329 6:108189411-108189411 6:107868207-107868207
118 SEC63 NM_007214.5(SEC63):c.*3393C>TSNV Benign 354826 rs592939 6:108189515-108189515 6:107868311-107868311
119 SEC63 NM_007214.5(SEC63):c.*3431A>CSNV Benign 354825 rs592989 6:108189477-108189477 6:107868273-107868273
120 SEC63 NM_007214.5(SEC63):c.*3580G>ASNV Benign 354812 rs847120 6:108189328-108189328 6:107868124-107868124
121 SEC63 NM_007214.5(SEC63):c.*3502C>TSNV Benign 354815 rs181941841 6:108189406-108189406 6:107868202-107868202
122 SEC63 NM_007214.5(SEC63):c.564C>T (p.Asn188=)SNV Benign 95474 rs675117 6:108233929-108233929 6:107912725-107912725
123 SEC63 NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)SNV Benign 260153 rs61733388 6:108197775-108197775 6:107876571-107876571
124 SEC63 NM_007214.5(SEC63):c.807G>A (p.Thr269=)SNV Benign 354910 rs182467867 6:108227908-108227908 6:107906704-107906704
125 SEC63 NM_007214.5(SEC63):c.*3499A>CSNV Benign 354817 rs143966094 6:108189409-108189409 6:107868205-107868205
126 SEC63 NM_007214.5(SEC63):c.*1839C>GSNV Benign 354862 rs150031834 6:108191069-108191069 6:107869865-107869865
127 SEC63 NM_007214.5(SEC63):c.*2705T>CSNV Benign 354841 rs687374 6:108190203-108190203 6:107868999-107868999
128 SEC63 NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)SNV Benign 354902 rs17854547 6:108214694-108214694 6:107893490-107893490
129 SEC63 NM_007214.5(SEC63):c.*3895T>CSNV Benign 354807 rs12661966 6:108189013-108189013 6:107867809-107867809
130 SEC63 NM_007214.5(SEC63):c.*2046C>GSNV Benign 354852 rs139373195 6:108190862-108190862 6:107869658-107869658
131 SEC63 NM_007214.5(SEC63):c.*907C>TSNV Benign 354878 rs571893658 6:108192001-108192001 6:107870797-107870797
132 SEC63 NM_007214.5(SEC63):c.*2662G>ASNV Benign 354842 rs513325 6:108190246-108190246 6:107869042-107869042
133 SEC63 NM_007214.5(SEC63):c.*1178T>GSNV Benign 906511 6:108191730-108191730 6:107870526-107870526
134 SEC63 NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu)SNV Benign 906564 6:108197777-108197777 6:107876573-107876573
135 SEC63 NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala)SNV Benign 906565 6:108197818-108197818 6:107876614-107876614
136 SEC63 NM_007214.5(SEC63):c.979A>G (p.Lys327Glu)SNV Benign 904249 6:108225908-108225908 6:107904704-107904704
137 SEC63 NM_007214.5(SEC63):c.*3390G>ASNV Benign 906400 6:108189518-108189518 6:107868314-107868314

Expression for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 2 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 2 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 2 with or Without Kidney Cysts

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