NephVar / CAKUT / Variants

CAKUT Variants

ClinVar-derived variant database for the 36 congenital anomalies of the kidney & urinary tract genes — 28,160 unique variants total. Select a gene to browse its full variant list with classification history and submission timelines.
ACE 786 variants
46P
29LP
429VUS
183LB
99B
0Other
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AGT 300 variants
47P
11LP
152VUS
64LB
26B
0Other
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AGTR1 196 variants
24P
10LP
113VUS
29LB
20B
0Other
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BMP4 292 variants
24P
13LP
178VUS
50LB
27B
0Other
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CHD1L 648 variants
248P
35LP
248VUS
29LB
88B
0Other
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CHRM3 203 variants
31P
3LP
113VUS
46LB
10B
0Other
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DSTYK 356 variants
9P
5LP
228VUS
84LB
30B
0Other
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EYA1 726 variants
184P
64LP
279VUS
119LB
80B
0Other
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FGF20 213 variants
65P
5LP
97VUS
28LB
18B
0Other
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FRAS1 3,418 variants
230P
126LP
1309VUS
1549LB
204B
0Other
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FREM1 1,522 variants
132P
59LP
882VUS
286LB
163B
0Other
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FREM2 2,439 variants
140P
42LP
1054VUS
1029LB
174B
0Other
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GATA3 529 variants
108P
38LP
208VUS
113LB
62B
0Other
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GRIP1 834 variants
30P
17LP
275VUS
481LB
31B
0Other
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HNF1B 962 variants
315P
111LP
293VUS
166LB
70B
7Other
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HPSE2 307 variants
34P
10LP
159VUS
48LB
56B
0Other
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ITGA8 463 variants
14P
9LP
217VUS
113LB
110B
0Other
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KAL1 647 variants
266P
33LP
224VUS
64LB
60B
0Other
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LRIG2 230 variants
17P
9LP
167VUS
25LB
12B
0Other
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MUC1 154 variants
9P
8LP
108VUS
25LB
4B
0Other
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PAX2 616 variants
80P
73LP
257VUS
161LB
45B
0Other
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REN 241 variants
15P
11LP
138VUS
47LB
30B
0Other
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RET 3,973 variants
131P
50LP
2082VUS
1378LB
332B
0Other
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ROBO2 691 variants
6P
3LP
448VUS
100LB
134B
0Other
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SALL1 725 variants
121P
22LP
374VUS
147LB
61B
0Other
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SIX1 273 variants
18P
18LP
162VUS
50LB
25B
0Other
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SIX2 136 variants
12P
2LP
74VUS
37LB
11B
0Other
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SIX5 562 variants
9P
3LP
348VUS
171LB
31B
0Other
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SOX17 272 variants
13P
5LP
178VUS
54LB
22B
0Other
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SRGAP1 160 variants
1P
0LP
121VUS
25LB
13B
0Other
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TBX18 264 variants
16P
2LP
158VUS
66LB
22B
0Other
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TNXB 3,510 variants
78P
77LP
1944VUS
1195LB
215B
1Other
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TRAP1 587 variants
48P
2LP
347VUS
128LB
62B
0Other
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UMOD 582 variants
46P
67LP
311VUS
108LB
50B
0Other
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UPK3A 167 variants
68P
2LP
70VUS
10LB
17B
0Other
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WNT4 176 variants
9P
1LP
104VUS
49LB
13B
0Other
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Pathogenic (P) Likely pathogenic (LP) Uncertain significance (VUS) Likely benign (LB) Benign (B) Other / conflicting