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Items: 1 to 100 of 302

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:213031614
GRCh38:
Chr1:212858272
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000295306
2.
GRCh37:
Chr1:213031627
GRCh38:
Chr1:212858285
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876706
3.
GRCh37:
Chr1:213031629
GRCh38:
Chr1:212858287
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876707
4.
GRCh37:
Chr1:213031639
GRCh38:
Chr1:212858297
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000295307
5.
GRCh37:
Chr1:213031641
GRCh38:
Chr1:212858299
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876708
6.
GRCh37:
Chr1:213031691
GRCh38:
Chr1:212858349
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876709
7.
GRCh37:
Chr1:213031708
GRCh38:
Chr1:212858366
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000295308
8.
GRCh37:
Chr1:213031709
GRCh38:
Chr1:212858367
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000295309
9.
GRCh37:
Chr1:213031759
GRCh38:
Chr1:212858417
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295310
10.
GRCh37:
Chr1:213031788
GRCh38:
Chr1:212858446
FLVCR1not providedUncertain significance
(Feb 5, 2018)
criteria provided, single submitterVCV000585883
11.
GRCh37:
Chr1:213031796
GRCh38:
Chr1:212858454
FLVCR1M1TPosterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseasesPathogenic/Likely pathogenic
(Apr 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000521372
12.
GRCh37:
Chr1:213031797
GRCh38:
Chr1:212858455
FLVCR1M1Inot provided, Inborn genetic diseasesPathogenic
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000521373
13.
GRCh37:
Chr1:213031800
GRCh38:
Chr1:212858458
FLVCR1not providedLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV001124244
14.
GRCh37:
Chr1:213031801
GRCh38:
Chr1:212858459
FLVCR1R3Wnot provided, Inborn genetic diseases, Retinal dystrophy
Uncertain significance
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000521374
15.
GRCh37:
Chr1:213031812
GRCh38:
Chr1:212858470
FLVCR1D6Enot providedUncertain significance
(Oct 30, 2019)
criteria provided, single submitterVCV000994877
16.
GRCh37:
Chr1:213031819
GRCh38:
Chr1:212858477
FLVCR1G9Rnot provided, Retinal dystrophyUncertain significance
(Feb 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000865989
17.
GRCh37:
Chr1:213031820
GRCh38:
Chr1:212858478
FLVCR1G9Enot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitterVCV000851111
18.
GRCh37:
Chr1:213031824
GRCh38:
Chr1:212858482
FLVCR1not providedUncertain significance
(Sep 1, 2016)
criteria provided, single submitterVCV000806344
19.
GRCh37:
Chr1:213031834
GRCh38:
Chr1:212858492
FLVCR1P14Snot providedUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000835909
20.
GRCh37:
Chr1:213031836
GRCh38:
Chr1:212858494
FLVCR1not provided, Posterior column ataxia-retinitis pigmentosa syndromeConflicting interpretations of pathogenicity
(Aug 18, 2020)
criteria provided, conflicting interpretationsVCV000295311
21.
GRCh37:
Chr1:213031843
GRCh38:
Chr1:212858501
FLVCR1P17Anot providedUncertain significance
(Feb 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000804813
22.
GRCh37:
Chr1:213031845
GRCh38:
Chr1:212858503
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295312
23.
GRCh37:
Chr1:213031863
GRCh38:
Chr1:212858521
FLVCR1not providedLikely benign
(Oct 4, 2020)
criteria provided, single submitterVCV000735691
24.
GRCh37:
Chr1:213031865
GRCh38:
Chr1:212858523
FLVCR1P24Lnot providedUncertain significance
(Dec 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000804814
25.
GRCh37:
Chr1:213031869
GRCh38:
Chr1:212858527
FLVCR1not providedLikely benign
(Dec 24, 2019)
criteria provided, single submitterVCV001102544
26.
GRCh37:
Chr1:213031876
GRCh38:
Chr1:212858534
FLVCR1G28Snot provided, Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Oct 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000873876
27.
GRCh37:
Chr1:213031881
GRCh38:
Chr1:212858539
FLVCR1Jeune thoracic dystrophyLikely pathogenicno assertion criteria providedVCV000617855
28.
GRCh37:
Chr1:213031906
GRCh38:
Chr1:212858564
FLVCR1L38Vnot providedUncertain significance
(Aug 5, 2020)
criteria provided, single submitterVCV001003452
29.
GRCh37:
Chr1:213031927
GRCh38:
Chr1:212858585
FLVCR1G45SRetinal dystrophy, not providedUncertain significance
(Sep 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000391253
30.
GRCh37:
Chr1:213031937
GRCh38:
Chr1:212858595
FLVCR1P48Lnot providedUncertain significance
(Oct 14, 2019)
criteria provided, single submitterVCV000994876
31.
GRCh37:
Chr1:213031948
GRCh38:
Chr1:212858606
FLVCR1A52Pnot specified, Posterior column ataxia-retinitis pigmentosa syndrome, not provided
Benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000129102
32.
GRCh37:
Chr1:213031963
GRCh38:
Chr1:212858621
FLVCR1L57Vnot providedUncertain significance
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000960843
33.
GRCh37:
Chr1:213031971
GRCh38:
Chr1:212858629
FLVCR1not providedLikely benign
(Dec 11, 2019)
criteria provided, single submitterVCV001085283
34.
GRCh37:
Chr1:213031972-213031973
GRCh38:
Chr1:212858630-212858631
FLVCR1A60Inot providedUncertain significance
(May 7, 2020)
criteria provided, single submitterVCV001021896
35.
GRCh37:
Chr1:213031972
GRCh38:
Chr1:212858630
FLVCR1A60Snot providedUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001006567
36.
GRCh37:
Chr1:213031992
GRCh38:
Chr1:212858650
FLVCR1not providedLikely benign
(Nov 26, 2019)
criteria provided, single submitterVCV001094540
37.
GRCh37:
Chr1:213031995
GRCh38:
Chr1:212858653
FLVCR1not providedLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001159326
38.
GRCh37:
Chr1:213031996
GRCh38:
Chr1:212858654
FLVCR1Q68Enot providedUncertain significance
(Mar 11, 2020)
criteria provided, single submitterVCV000863677
39.
GRCh37:
Chr1:213032010
GRCh38:
Chr1:212858668
FLVCR1not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000738292
40.
GRCh37:
Chr1:213032030
GRCh38:
Chr1:212858688
FLVCR1A79VPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 13, 2018)
criteria provided, single submitterVCV001033256
41.
GRCh37:
Chr1:213032035
GRCh38:
Chr1:212858693
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000873877
42.
GRCh37:
Chr1:213032048
GRCh38:
Chr1:212858706
FLVCR1G85Anot providedUncertain significance
(Dec 17, 2019)
criteria provided, single submitterVCV000841285
43.
GRCh37:
Chr1:213032061
GRCh38:
Chr1:212858719
FLVCR1not specifiedUncertain significance
(Jul 17, 2017)
criteria provided, single submitterVCV000447350
44.
GRCh37:
Chr1:213032064
GRCh38:
Chr1:212858722
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873878
45.
GRCh37:
Chr1:213032073
GRCh38:
Chr1:212858731
FLVCR1not providedLikely benign
(Sep 8, 2020)
criteria provided, single submitterVCV001139163
46.
GRCh37:
Chr1:213032073
GRCh38:
Chr1:212858731
FLVCR1not providedLikely benign
(Mar 5, 2020)
criteria provided, single submitterVCV001119225
47.
GRCh37:
Chr1:213032088
GRCh38:
Chr1:212858746
FLVCR1not providedLikely benign
(Jun 6, 2018)
criteria provided, single submitterVCV000749172
48.
GRCh37:
Chr1:213032097
GRCh38:
Chr1:212858755
FLVCR1not providedLikely benign
(Jul 3, 2018)
criteria provided, single submitterVCV000756055
49.
GRCh37:
Chr1:213032100
GRCh38:
Chr1:212858758
FLVCR1not providedLikely benign
(Dec 28, 2019)
criteria provided, single submitterVCV001149959
50.
GRCh37:
Chr1:213032101
GRCh38:
Chr1:212858759
FLVCR1L103Fnot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitterVCV000848207
51.
GRCh37:
Chr1:213032116
GRCh38:
Chr1:212858774
FLVCR1F108Vnot providedUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001053646
52.
GRCh37:
Chr1:213032140
GRCh38:
Chr1:212858798
FLVCR1not providedConflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000994878
53.
GRCh37:
Chr1:213032155
GRCh38:
Chr1:212858813
FLVCR1N121DPosterior column ataxia-retinitis pigmentosa syndrome, not providedPathogenic
(Dec 31, 2019)
criteria provided, single submitterVCV000018418
54.
GRCh37:
Chr1:213032156
GRCh38:
Chr1:212858814
FLVCR1N121Snot providedUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001004724
55.
GRCh37:
Chr1:213032158
GRCh38:
Chr1:212858816
FLVCR1A122Tnot specifiedUncertain significance
(Mar 14, 2017)
criteria provided, single submitterVCV000447351
56.
GRCh37:
Chr1:213032160
GRCh38:
Chr1:212858818
FLVCR1not providedLikely benign
(Jul 30, 2020)
criteria provided, single submitterVCV001150387
57.
GRCh37:
Chr1:213032163
GRCh38:
Chr1:212858821
FLVCR1F123Lnot providedUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV000999892
58.
GRCh37:
Chr1:213032166
GRCh38:
Chr1:212858824
FLVCR1not providedLikely benign
(Sep 21, 2019)
criteria provided, single submitterVCV001124053
59.
GRCh37:
Chr1:213032179
GRCh38:
Chr1:212858837
FLVCR1S129GPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295313
60.
GRCh37:
Chr1:213032185
GRCh38:
Chr1:212858843
FLVCR1I131Vnot providedUncertain significance
(Nov 10, 2017)
criteria provided, single submitterVCV000585879
61.
GRCh37:
Chr1:213032192
GRCh38:
Chr1:212858850
FLVCR1N133Tnot providedUncertain significance
(Sep 8, 2019)
criteria provided, single submitterVCV000936766
62.
GRCh37:
Chr1:213032270
GRCh38:
Chr1:212858928
FLVCR1P159Rnot providedUncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000938073
63.
GRCh37:
Chr1:213032282
GRCh38:
Chr1:212858940
FLVCR1P163Lnot providedUncertain significance
(Jul 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000585880
64.
GRCh37:
Chr1:213032295
GRCh38:
Chr1:212858953
FLVCR1not providedUncertain significance
(Jun 4, 2016)
criteria provided, single submitterVCV000287748
65.
GRCh37:
Chr1:213032319
GRCh38:
Chr1:212858977
FLVCR1not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000725857
66.
GRCh37:
Chr1:213032326
GRCh38:
Chr1:212858984
FLVCR1not providedLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001127983
67.
GRCh37:
Chr1:213032328
GRCh38:
Chr1:212858986
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000295314
68.
GRCh37:
Chr1:213032331
GRCh38:
Chr1:212858989
FLVCR1G180fsRetinal dystrophyLikely pathogenic
(Jun 25, 2019)
criteria provided, single submitterVCV000867175
69.
GRCh37:
Chr1:213032345
GRCh38:
Chr1:212859003
FLVCR1N184Tnot providedUncertain significance
(Oct 2, 2020)
criteria provided, single submitterVCV001061420
70.
GRCh37:
Chr1:213032348
GRCh38:
Chr1:212859006
FLVCR1C185Snot provided, Retinal dystrophyUncertain significance
(May 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000867215
71.
GRCh37:
Chr1:213032357
GRCh38:
Chr1:212859015
FLVCR1A188Vnot providedUncertain significance
(Nov 20, 2019)
criteria provided, single submitterVCV000844017
72.
GRCh37:
Chr1:213032368
GRCh38:
Chr1:212859026
FLVCR1C192RPosterior column ataxia-retinitis pigmentosa syndromeLikely pathogenic
(Apr 8, 2021)
criteria provided, single submitterVCV000018420
73.
GRCh37:
Chr1:213032387
GRCh38:
Chr1:212859045
FLVCR1H198Rnot providedUncertain significance
(Mar 14, 2020)
criteria provided, single submitterVCV001039871
74.
GRCh37:
Chr1:213032389
GRCh38:
Chr1:212859047
FLVCR1L199Fnot specified, not provided, Posterior column ataxia-retinitis pigmentosa syndrome
Uncertain significance
(Mar 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000295315
75.
GRCh37:
Chr1:213032405
GRCh38:
Chr1:212859063
FLVCR1M204RPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295316
76.
GRCh37:
Chr1:213032436
GRCh38:
Chr1:212859094
FLVCR1Q214Hnot providedUncertain significance
(Jan 23, 2020)
criteria provided, single submitterVCV001055046
77.
GRCh37:
Chr1:213032457
GRCh38:
Chr1:212859115
FLVCR1not specified, not providedLikely benign
(Sep 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000994879
78.
GRCh37:
Chr1:213032484
GRCh38:
Chr1:212859142
FLVCR1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794045
79.
GRCh37:
Chr1:213032486
GRCh38:
Chr1:212859144
FLVCR1P231Hnot providedUncertain significance
(Sep 17, 2019)
criteria provided, single submitterVCV000942250
80.
GRCh37:
Chr1:213032494
GRCh38:
Chr1:212859152
FLVCR1V234Lnot providedUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001055866
81.
GRCh37:
Chr1:213032498
GRCh38:
Chr1:212859156
FLVCR1S235YRetinal dystrophyUncertain significance
(May 15, 2018)
criteria provided, single submitterVCV000866952
82.
GRCh37:
Chr1:213032515
GRCh38:
Chr1:212859173
FLVCR1A241TPosterior column ataxia-retinitis pigmentosa syndromePathogenic
(Nov 12, 2010)
no assertion criteria providedVCV000018419
83.
GRCh37:
Chr1:213032524
GRCh38:
Chr1:212859182
FLVCR1G244SHereditary sensory and autonomic neuropathy, Retinitis pigmentosaLikely pathogenic
(Apr 23, 2020)
criteria provided, single submitterVCV000916537
84.
GRCh37:
Chr1:213032541
GRCh38:
Chr1:212859199
FLVCR1not specified, not provided, Posterior column ataxia-retinitis pigmentosa syndrome
Conflicting interpretations of pathogenicity
(Nov 16, 2020)
criteria provided, conflicting interpretationsVCV000295317
85.
GRCh37:
Chr1:213032542
GRCh38:
Chr1:212859200
FLVCR1not providedLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001161258
86.
GRCh37:
Chr1:213037070
GRCh38:
Chr1:212863728
FLVCR1G248*not providedLikely pathogenic
(Oct 4, 2018)
criteria provided, single submitterVCV000620400
87.
GRCh37:
Chr1:213037082
GRCh38:
Chr1:212863740
FLVCR1G252fsPosterior column ataxia-retinitis pigmentosa syndrome, not providedPathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000872563
88.
GRCh37:
Chr1:213037096
GRCh38:
Chr1:212863754
FLVCR1not providedLikely benign
(Dec 11, 2018)
criteria provided, single submitterVCV000748979
89.
GRCh37:
Chr1:213037107
GRCh38:
Chr1:212863765
FLVCR1V260APosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874829
90.
GRCh37:
Chr1:213037110
GRCh38:
Chr1:212863768
FLVCR1P261LPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295318
91.
GRCh37:
Chr1:213037113
GRCh38:
Chr1:212863771
FLVCR1N262TShort Rib Polydactyly SyndromeLikely pathogenicno assertion criteria providedVCV000617856
92.
GRCh37:
Chr1:213037113
GRCh38:
Chr1:212863771
FLVCR1N262Snot providedUncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000585881
93.
GRCh37:
Chr1:213037127
GRCh38:
Chr1:212863785
FLVCR1T267Anot providedUncertain significance
(Oct 25, 2017)
criteria provided, single submitterVCV000585882
94.
GRCh37:
Chr1:213037134
GRCh38:
Chr1:212863792
FLVCR1L269PRetinitis pigmentosaUncertain significance
(Apr 1, 2021)
criteria provided, single submitterVCV001297162
95.
GRCh37:
Chr1:213037147
GRCh38:
Chr1:212863805
FLVCR1not providedUncertain significance
(Oct 9, 2017)
criteria provided, single submitterVCV000585884
96.
GRCh37:
Chr1:213037148
GRCh38:
Chr1:212863806
FLVCR1I274Vnot providedUncertain significance
(Feb 2, 2020)
criteria provided, single submitterVCV001016445
97.
GRCh37:
Chr1:213037160
GRCh38:
Chr1:212863818
FLVCR1F278Lnot provided, Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000874830
98.
GRCh37:
Chr1:213037163
GRCh38:
Chr1:212863821
FLVCR1Y279NPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874831
99.
GRCh37:
Chr1:213037166
GRCh38:
Chr1:212863824
FLVCR1G280Rnot providedLikely pathogenic
(Apr 27, 2015)
criteria provided, single submitterVCV000427182
100.
GRCh37:
Chr1:213037175
GRCh38:
Chr1:212863833
FLVCR1A283Pnot providedConflicting interpretations of pathogenicity
(Oct 23, 2020)
criteria provided, conflicting interpretationsVCV000450589
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