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Items: 65

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1not providedBenign
(May 21, 2021)
criteria provided, single submitterVCV001281450
2.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1not providedBenign
(Aug 6, 2019)
criteria provided, single submitterVCV001232587
3.
GRCh37:
Chr12:115120759
GRCh38:
Chr12:114682954
TBX3, TBX3-AS1P83TUlnar-mammary syndromeUncertain significance
(Nov 8, 2019)
criteria provided, single submitterVCV001028467
4.
GRCh37:
Chr12:115112490
GRCh38:
Chr12:114674685
TBX3F397fs, F417fsnot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000987156
5.
GRCh37:
Chr12:115112203
GRCh38:
Chr12:114674398
TBX3F493V, F513VUlnar-mammary syndromeUncertain significance
(May 7, 2019)
criteria provided, single submitterVCV000931444
6.
GRCh37:
Chr12:115121152
GRCh38:
Chr12:114683347
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883063
7.
GRCh37:
Chr12:115121107
GRCh38:
Chr12:114683302
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000883062
8.
GRCh37:
Chr12:115120985
GRCh38:
Chr12:114683180
TBX3, TBX3-AS1D7EUlnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883061
9.
GRCh37:
Chr12:115121942
GRCh38:
Chr12:114684137
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881960
10.
GRCh37:
Chr12:115121914
GRCh38:
Chr12:114684109
TBX3, TBX3-AS1Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000881959
11.
GRCh37:
Chr12:115121840
GRCh38:
Chr12:114684035
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881958
12.
GRCh37:
Chr12:115121834
GRCh38:
Chr12:114684029
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881957
13.
GRCh37:
Chr12:115121693
GRCh38:
Chr12:114683888
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881956
14.
GRCh37:
Chr12:115120697
GRCh38:
Chr12:114682892
TBX3, TBX3-AS1Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000881883
15.
GRCh37:
Chr12:115121553
GRCh38:
Chr12:114683748
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880541
16.
GRCh37:
Chr12:115120880
GRCh38:
Chr12:114683075
TBX3, TBX3-AS1Ulnar-mammary syndrome, not providedBenign
(May 18, 2018)
criteria provided, single submitterVCV000766943
17.
GRCh37:
Chr12:115120670
GRCh38:
Chr12:114682865
TBX3, TBX3-AS1not providedLikely benign
(May 8, 2018)
criteria provided, single submitterVCV000743382
18.
GRCh37:
Chr12:115120817
GRCh38:
Chr12:114683012
TBX3, TBX3-AS1not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000737868
19.
GRCh37:
Chr12:115120725
GRCh38:
Chr12:114682920
TBX3, TBX3-AS1E94Gnot providedLikely benign
(Dec 29, 2017)
criteria provided, single submitterVCV000722204
20.
GRCh37:
Chr12:115120934
GRCh38:
Chr12:114683129
TBX3, TBX3-AS1not providedLikely benign
(Apr 9, 2018)
criteria provided, single submitterVCV000718181
21.
GRCh37:
Chr12:115120910
GRCh38:
Chr12:114683105
TBX3, TBX3-AS1not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV000716572
22.
GRCh37:
Chr12:115120790
GRCh38:
Chr12:114682985
TBX3, TBX3-AS1not providedLikely benign
(May 4, 2018)
criteria provided, single submitterVCV000707158
23.
GRCh37:
Chr12:115120855
GRCh38:
Chr12:114683050
TBX3, TBX3-AS1A51TUlnar-mammary syndromeUncertain significance
(Jun 7, 2017)
criteria provided, single submitterVCV000580223
24.
GRCh37:
Chr12:114948986-115167687
TBX3not providedUncertain significance
(May 22, 2018)
no assertion criteria providedVCV000563916
25.
GRCh37:
Chr12:115112622
GRCh38:
Chr12:114674817
TBX3G373V, G353Vnot providedUncertain significance
(Feb 1, 2018)
criteria provided, single submitterVCV000546724
26.
GRCh37:
Chr12:115120636
GRCh38:
Chr12:114682831
TBX3, TBX3-AS1V124FInborn genetic diseasesLikely pathogenic
(Nov 6, 2017)
criteria provided, single submitterVCV000522089
27.
GRCh37:
Chr12:114995645-115376925
TBX3See casesPathogenicno assertion criteria providedVCV000396398
28.
GRCh37:
Chr12:115121915
GRCh38:
Chr12:114684110
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307408
29.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307407
30.
GRCh37:
Chr12:115121877-115121878
GRCh38:
Chr12:114684072-114684073
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307406
31.
GRCh37:
Chr12:115121877-115121878
GRCh38:
Chr12:114684072-114684073
TBX3-AS1, TBX3Ulnar-mammary syndrome, not providedConflicting interpretations of pathogenicity
(Oct 22, 2019)
criteria provided, conflicting interpretationsVCV000307405
32.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307404
33.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307403
34.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307402
35.
GRCh37:
Chr12:115121876-115121877
GRCh38:
Chr12:114684071-114684072
TBX3, TBX3-AS1Ulnar-mammary syndrome, not providedConflicting interpretations of pathogenicity
(Aug 15, 2019)
criteria provided, conflicting interpretationsVCV000307401
36.
GRCh37:
Chr12:115121732
GRCh38:
Chr12:114683927
TBX3-AS1, TBX3not provided, Ulnar-mammary syndromeBenign
(Dec 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000307400
37.
GRCh37:
Chr12:115121596
GRCh38:
Chr12:114683791
TBX3-AS1, TBX3Ulnar-mammary syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000307399
38.
GRCh37:
Chr12:115121595-115121596
GRCh38:
Chr12:114683790-114683791
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307398
39.
GRCh37:
Chr12:115121573
GRCh38:
Chr12:114683768
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307397
40.
GRCh37:
Chr12:115121519-115121522
GRCh38:
Chr12:114683714-114683717
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307396
41.
GRCh37:
Chr12:115121512
GRCh38:
Chr12:114683707
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307395
42.
GRCh37:
Chr12:115121446
GRCh38:
Chr12:114683641
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307394
43.
GRCh37:
Chr12:115121422
GRCh38:
Chr12:114683617
TBX3, TBX3-AS1Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307393
44.
GRCh37:
Chr12:115121397
GRCh38:
Chr12:114683592
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307392
45.
GRCh37:
Chr12:115121383
GRCh38:
Chr12:114683578
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307391
46.
GRCh37:
Chr12:115121371
GRCh38:
Chr12:114683566
TBX3-AS1, TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307390
47.
GRCh37:
Chr12:115121336
GRCh38:
Chr12:114683531
TBX3-AS1, TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307389
48.
GRCh37:
Chr12:115121331
GRCh38:
Chr12:114683526
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307388
49.
GRCh37:
Chr12:115121280
GRCh38:
Chr12:114683475
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307387
50.
GRCh37:
Chr12:115121256
GRCh38:
Chr12:114683451
TBX3-AS1, TBX3Ulnar-mammary syndrome, not providedBenign/Likely benign
(Dec 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000307386
51.
GRCh37:
Chr12:115121214
GRCh38:
Chr12:114683409
TBX3-AS1, TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307385
52.
GRCh37:
Chr12:115121203
GRCh38:
Chr12:114683398
TBX3, TBX3-AS1Ulnar-mammary syndrome, not providedBenign
(Dec 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000307384
53.
GRCh37:
Chr12:115121189
GRCh38:
Chr12:114683384
TBX3, TBX3-AS1Ulnar-mammary syndrome, not providedBenign
(Oct 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000307383
54.
GRCh37:
Chr12:115121188
GRCh38:
Chr12:114683383
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307382
55.
GRCh37:
Chr12:115121186
GRCh38:
Chr12:114683381
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307381
56.
GRCh37:
Chr12:115121076
GRCh38:
Chr12:114683271
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307380
57.
GRCh37:
Chr12:115121034
GRCh38:
Chr12:114683229
TBX3-AS1, TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307379
58.
GRCh37:
Chr12:115120945
GRCh38:
Chr12:114683140
TBX3, TBX3-AS1Ulnar-mammary syndrome, not providedBenign/Likely benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000307378
59.
GRCh37:
Chr12:115120743
GRCh38:
Chr12:114682938
TBX3-AS1, TBX3R88KUlnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307377
60.
GRCh37:
Chr12:115120682
GRCh38:
Chr12:114682877
TBX3, TBX3-AS1Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307376
61.
GRCh37:
Chr12:115118900
GRCh38:
Chr12:114681095
TBX3not specifiedLikely benigncriteria provided, single submitterVCV000260750
62.
GRCh37:
Chr12:115120835
GRCh38:
Chr12:114683030
TBX3, TBX3-AS1Ulnar-mammary syndrome, not specifiedBenign
(Feb 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000260749
63.
GRCh37:
Chr12:115109877-115120812
TBX3Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221493
64.
GRCh37:
Chr12:115120917-115120918
GRCh38:
Chr12:114683112-114683113
TBX3, TBX3-AS1M30fsUlnar-mammary syndromePathogenic
(Oct 1, 2002)
no assertion criteria providedVCV000007990
65.
GRCh37:
Chr12:115120779
GRCh38:
Chr12:114682974
TBX3-AS1, TBX3I76fsUlnar-mammary syndromePathogenic
(Jul 1, 1997)
no assertion criteria providedVCV000007987
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