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Links from MedGen

Items: 1 to 100 of 198

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:36486360
GRCh38:
Chr17:38330477
GPR179R1031KCongenital stationary night blindness 1EUncertain significance
(Mar 9, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr17:36490704
GRCh38:
Chr17:38334821
GPR179W556*Congenital stationary night blindness 1EPathogenic
(Sep 1, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:36485700
GRCh38:
Chr17:38329817
GPR179S1251LInborn genetic diseases, not provided, Congenital stationary night blindness 1E
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr17:36489255
GRCh38:
Chr17:38333372
GPR179R639QCongenital stationary night blindness 1E, not providedUncertain significance
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr17:36485992
GRCh38:
Chr17:38330109
GPR179Q1154*not provided, Congenital stationary night blindness 1EUncertain significance
(Feb 25, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:36485280
GRCh38:
Chr17:38329397
GPR179D1391ACongenital stationary night blindness 1Enot providedno assertion provided
7.
GRCh37:
Chr17:36484901-36484902
GRCh38:
Chr17:38329018-38329019
GPR179M1517fsnot provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Jul 14, 2022)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr17:36499525
GRCh38:
Chr17:38343642
GPR179Q50*Congenital stationary night blindness 1ELikely pathogenic
(Oct 18, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr17:36499054
GRCh38:
Chr17:38343171
GPR179G207RCongenital stationary night blindness 1ELikely benign
(Jul 5, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr17:36483825
GRCh38:
Chr17:38327942
GPR179W1876SCongenital stationary night blindness 1EUncertain significance
(Jul 5, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr17:36499399
GRCh38:
Chr17:38343516
GPR179P92TCongenital stationary night blindness 1EUncertain significance
(Jul 5, 2020)
criteria provided, single submitter
12.
GRCh37:
Chr17:36482958
GRCh38:
Chr17:38327075
GPR179T2165KCongenital stationary night blindness 1E, not providedLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:36483580
GRCh38:
Chr17:38327697
GPR179C1958Rnot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:36495345
GRCh38:
Chr17:38339462
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:36493555
GRCh38:
Chr17:38337672
GPR179R318CCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:36489224
GRCh38:
Chr17:38333341
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Dec 21, 2021)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr17:36489169
GRCh38:
Chr17:38333286
GPR179W668RCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr17:36487303
GRCh38:
Chr17:38331420
GPR179R717Cnot provided, Congenital stationary night blindness 1EUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:36487302
GRCh38:
Chr17:38331419
GPR179R717Hnot provided, Congenital stationary night blindness 1EUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:36486010
GRCh38:
Chr17:38330127
GPR179D1148Nnot provided, Congenital stationary night blindness 1EUncertain significance
(Jul 3, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:36486005
GRCh38:
Chr17:38330122
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr17:36486001
GRCh38:
Chr17:38330118
GPR179E1151KCongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr17:36485986
GRCh38:
Chr17:38330103
GPR179Q1156ECongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr17:36485944
GRCh38:
Chr17:38330061
GPR179R1170Wnot provided, Congenital stationary night blindness 1E, Inborn genetic diseases
Uncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:36485071
GRCh38:
Chr17:38329188
GPR179E1461Qnot provided, Congenital stationary night blindness 1ELikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:36484993
GRCh38:
Chr17:38329110
GPR179V1487MInborn genetic diseases, not provided, Congenital stationary night blindness 1E
Uncertain significance
(Apr 26, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:36484897
GRCh38:
Chr17:38329014
GPR179E1519KCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr17:36482995
GRCh38:
Chr17:38327112
GPR179G2153RCongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr17:36493531
GRCh38:
Chr17:38337648
GPR179A326Tnot provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr17:36493524
GRCh38:
Chr17:38337641
GPR179P328Lnot provided, Congenital stationary night blindness 1EUncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:36493059
GRCh38:
Chr17:38337176
GPR179not provided, Congenital stationary night blindness 1EBenign/Likely benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:36492955
GRCh38:
Chr17:38337072
GPR179A378Vnot provided, Congenital stationary night blindness 1E, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr17:36487104
GRCh38:
Chr17:38331221
GPR179P783Lnot provided, Congenital stationary night blindness 1EUncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:36487039
GRCh38:
Chr17:38331156
GPR179E805Qnot provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr17:36487033
GRCh38:
Chr17:38331150
GPR179V807MCongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr17:36486871
GRCh38:
Chr17:38330988
GPR179E861Knot provided, Congenital stationary night blindness 1EUncertain significance
(May 3, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:36485772
GRCh38:
Chr17:38329889
GPR179K1227Rnot provided, Congenital stationary night blindness 1EBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:36485753
GRCh38:
Chr17:38329870
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr17:36484070
GRCh38:
Chr17:38328187
GPR179M1794Inot provided, Congenital stationary night blindness 1EUncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:36484066
GRCh38:
Chr17:38328183
GPR179C1796Gnot provided, Congenital stationary night blindness 1EUncertain significance
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:36484036
GRCh38:
Chr17:38328153
GPR179A1806Tnot provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr17:36482331
GRCh38:
Chr17:38326448
GPR179Congenital stationary night blindness 1EUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr17:36481989
GRCh38:
Chr17:38326106
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr17:36481960
GRCh38:
Chr17:38326077
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr17:36481895
GRCh38:
Chr17:38326012
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr17:36491961
GRCh38:
Chr17:38336078
GPR179P432TCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr17:36491120
GRCh38:
Chr17:38335237
GPR179R481WCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:36491095
GRCh38:
Chr17:38335212
GPR179R489Qnot provided, Congenital stationary night blindness 1EUncertain significance
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:36491084
GRCh38:
Chr17:38335201
GPR179H493NCongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr17:36491084
GRCh38:
Chr17:38335201
GPR179H493Ynot provided, Congenital stationary night blindness 1EBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:36486342
GRCh38:
Chr17:38330459
GPR179V1037ACongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr17:36485606
GRCh38:
Chr17:38329723
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr17:36485576
GRCh38:
Chr17:38329693
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr17:36483813
GRCh38:
Chr17:38327930
GPR179D1880GCongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr17:36483683
GRCh38:
Chr17:38327800
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr17:36483593
GRCh38:
Chr17:38327710
GPR179not provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(May 15, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr17:36483584
GRCh38:
Chr17:38327701
GPR179not provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr17:36481826
GRCh38:
Chr17:38325943
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:36481708
GRCh38:
Chr17:38325825
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr17:36499542
GRCh38:
Chr17:38343659
GPR179P44Qnot provided, Inborn genetic diseases, Congenital stationary night blindness 1E
Uncertain significance
(Apr 19, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:36499401
GRCh38:
Chr17:38343518
GPR179L91PCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr17:36499184
GRCh38:
Chr17:38343301
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Jan 12, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr17:36499165
GRCh38:
Chr17:38343282
GPR179G170Rnot provided, Congenital stationary night blindness 1EBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:36499045
GRCh38:
Chr17:38343162
GPR179G210Snot provided, Congenital stationary night blindness 1EBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:36491028
GRCh38:
Chr17:38335145
GPR179not provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr17:36489924
GRCh38:
Chr17:38334041
GPR179Congenital stationary night blindness 1EUncertain significance
(Mar 16, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:36486307
GRCh38:
Chr17:38330424
GPR179A1049TCongenital stationary night blindness 1E, not providedUncertain significance
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:36486104
GRCh38:
Chr17:38330221
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr17:36486103
GRCh38:
Chr17:38330220
GPR179G1117RCongenital stationary night blindness 1E, not providedUncertain significance
(Jun 4, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:36486069
GRCh38:
Chr17:38330186
GPR179R1128QCongenital stationary night blindness 1E, not providedUncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:36486052
GRCh38:
Chr17:38330169
GPR179R1134WCongenital stationary night blindness 1E, not providedUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:36486041
GRCh38:
Chr17:38330158
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr17:36485405
GRCh38:
Chr17:38329522
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr17:36485381
GRCh38:
Chr17:38329498
GPR179Congenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr17:36485379
GRCh38:
Chr17:38329496
GPR179V1358GCongenital stationary night blindness 1E, not providedUncertain significance
(Aug 6, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:36485371
GRCh38:
Chr17:38329488
GPR179P1361ACongenital stationary night blindness 1EUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:36485311
GRCh38:
Chr17:38329428
GPR179C1381RCongenital stationary night blindness 1E, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:36485272
GRCh38:
Chr17:38329389
GPR179P1394Anot provided, Congenital stationary night blindness 1EUncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:36485264
GRCh38:
Chr17:38329381
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Sep 18, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr17:36483547
GRCh38:
Chr17:38327664
GPR179V1969ICongenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr17:36483283
GRCh38:
Chr17:38327400
GPR179V2057MCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr17:36499394-36499395
GRCh38:
Chr17:38343511-38343512
GPR179S94fsCongenital stationary night blindness 1EUncertain significance
(Oct 25, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr17:36486087-36486088
GRCh38:
Chr17:38330204-38330205
GPR179S1122fsCongenital stationary night blindness 1EUncertain significance
(Dec 5, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr17:36484642
GRCh38:
Chr17:38328759
GPR179E1604*not provided, Congenital stationary night blindness 1EUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:36484456
GRCh38:
Chr17:38328573
GPR179Q1666*Congenital stationary night blindness 1EUncertain significance
(Nov 29, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr17:36490644
GRCh38:
Chr17:38334761
GPR179Y576fsnot provided, Congenital stationary night blindness 1EPathogenic/Likely pathogenic
(Jul 31, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:36498892-36498893
GRCh38:
Chr17:38343009-38343010
GPR179P262fsCongenital stationary night blindness 1EPathogenic
(Feb 2, 2018)
no assertion criteria provided
88.
GRCh37:
Chr17:36495412
GRCh38:
Chr17:38339529
GPR179Congenital stationary night blindness 1E, not providedLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:36486011
GRCh38:
Chr17:38330128
GPR179not provided, Congenital stationary night blindness 1EBenign/Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:36484067
GRCh38:
Chr17:38328184
GPR179Congenital stationary night blindness 1E, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:36483846
GRCh38:
Chr17:38327963
GPR179Q1869PInborn genetic diseases, Congenital stationary night blindness 1E, not provided
Uncertain significance
(Jul 12, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:36483116
GRCh38:
Chr17:38327233
GPR179Congenital stationary night blindness 1E, not providedBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:36484394
GRCh38:
Chr17:38328511
GPR179Congenital stationary night blindness 1E, not providedConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr17:36485998
GRCh38:
Chr17:38330115
GPR179S1152PCongenital stationary night blindness 1E, not specified, not provided
Benign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:36499612
GRCh38:
Chr17:38343729
GPR179V21Lnot provided, Congenital stationary night blindness 1EBenign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:36499599
GRCh38:
Chr17:38343716
GPR179A25DCongenital stationary night blindness 1E, not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:36499575
GRCh38:
Chr17:38343692
GPR179R33HCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr17:36499539
GRCh38:
Chr17:38343656
GPR179G45VCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr17:36499493
GRCh38:
Chr17:38343610
GPR179not provided, Congenital stationary night blindness 1EConflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr17:36499377
GRCh38:
Chr17:38343494
GPR179A99VCongenital stationary night blindness 1EUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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