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Links from MedGen

Items: 37

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:57574654
GRCh38:
Chr15:57282456
TCF12N494fs, N652fs, N445fs, N470fs, N582fs, N606fs, N664fs, N404fs, N640fs, N663fsTCF12-related craniosynostosisUncertain significance
(Jan 25, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr15:57535664
GRCh38:
Chr15:57243466
TCF12TCF12-related craniosynostosis, not providedConflicting interpretations of pathogenicity
(Oct 6, 2022)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr15:57384091
GRCh38:
Chr15:57091893
TCF12TCF12-related craniosynostosisLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr15:57530965
GRCh38:
Chr15:57238767
TCF12TCF12-related craniosynostosisUncertain significance
(Sep 26, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr15:57384032
GRCh38:
Chr15:57091834
TCF12R102*, R32*, R90*TCF12-related craniosynostosisLikely pathogenic
(Jan 1, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:57524908
GRCh38:
Chr15:57232710
TCF12TCF12-related craniosynostosisPathogenic
(Jan 26, 2022)
no assertion criteria provided
7.
GRCh37:
Chr15:57574788
GRCh38:
Chr15:57282590
TCF12TCF12-related craniosynostosisLikely benign
(Jan 2, 2020)
criteria provided, single submitter
8.
GRCh37:
Chr15:57565289
GRCh38:
Chr15:57273091
TCF12R343W, R384W, R409W, R433W, R521W, R545W, R579W, R591W, R602W, R603Wnot providedUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr15:57578989
GRCh38:
Chr15:57286791
TCF12TCF12-related craniosynostosisUncertain significance
(Jul 14, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr15:57356005
GRCh38:
Chr15:57063807
TCF12Y70fs, Y82fsTCF12-related craniosynostosisPathogenic
(May 12, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr15:57545457
GRCh38:
Chr15:57253259
TCF12TCF12-related craniosynostosisPathogeniccriteria provided, single submitter
12.
GRCh37:
Chr15:57524604
GRCh38:
Chr15:57232406
TCF12TCF12-related craniosynostosisUncertain significance
(Nov 15, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr15:57574732
GRCh38:
Chr15:57282534
TCF12P430S, P471S, P496S, P520S, P608S, P632S, P666S, P678S, P689S, P690Snot provided, TCF12-related craniosynostosisUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:57565290
GRCh38:
Chr15:57273092
TCF12R343Q, R384Q, R409Q, R433Q, R521Q, R545Q, R579Q, R591Q, R602Q, R603QTCF12-related craniosynostosis, not providedConflicting interpretations of pathogenicity
(Jan 5, 2022)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr15:57565386-57565387
GRCh38:
Chr15:57273188-57273189
TCF12K376fs, K417fs, K442fs, K466fs, K554fs, K578fs, K612fs, K624fs, K635fs, K636fsTCF12-related craniosynostosisPathogenic
(Nov 26, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr15:57565319
GRCh38:
Chr15:57273121
TCF12R353C, R394C, R419C, R443C, R531C, R555C, R589C, R601C, R612C, R613CTCF12-related condition, not provided, TCF12-related craniosynostosis
Conflicting interpretations of pathogenicity
(Dec 8, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr15:57554365
GRCh38:
Chr15:57262167
TCF12S254*, S432*, S344*, S456*, S514*, S490*, S295*, S320*, S502*, S513*TCF12-related craniosynostosisPathogenic
(Jan 1, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:57524581-57524582
GRCh38:
Chr15:57232383-57232384
TCF12M41fs, M202fs, M260fs, M272fs, M90fsTCF12-related craniosynostosis, not providedPathogenic/Likely pathogenic
(Nov 5, 2019)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:57524587-57524588
GRCh38:
Chr15:57232389-57232390
TCF12S44fs, S275fs, S93fs, S205fs, S263fsnot provided, TCF12-related craniosynostosisPathogenic
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:57543561
GRCh38:
Chr15:57251363
TCF12W376*, W140*, W206*, W318*, W157*, W388*not providedPathogenic
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:57524615
GRCh38:
Chr15:57232417
TCF12S271*, S213*, S52*, S101*, S283*not provided, TCF12-related craniosynostosisPathogenic/Likely pathogenic
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr15:57555366-57555369
GRCh38:
Chr15:57263168-57263171
TCF12E354fs, E466fs, E548fs, E288fs, E329fs, E536fs, E378fs, E547fs, E490fs, E524fsnot provided, TCF12-related craniosynostosisPathogenic
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:57565358
GRCh38:
Chr15:57273160
TCF12R626*, R366*, R432*, R544*, R614*, R625*, R407*, R456*, R568*, R602*not providedPathogenic
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr15:57555447
GRCh38:
Chr15:57263249
TCF12K574Q, K492Q, K550Q, K314Q, K355Q, K404Q, K573Q, K380Q, K516Q, K562QTCF12-related craniosynostosisUncertain significance
(Mar 13, 2014)
no assertion criteria provided
25.
GRCh37:
Chr15:57565432
GRCh38:
Chr15:57273234
TCF12not specified, not provided, Hypogonadotropic hypogonadism 26 with or without anosmia,
TCF12-related craniosynostosis
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr15:57526310
GRCh38:
Chr15:57234112
TCF12not providedLikely pathogenic
(May 10, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:57565320
GRCh38:
Chr15:57273122
TCF12R613H, R353H, R612H, R419H, R443H, R531H, R555H, R394H, R589H, R601HTCF12-related craniosynostosisPathogenic/Likely pathogenic
(Jul 19, 2019)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:57545564-57545565
GRCh38:
Chr15:57253366-57253367
TCF12I237fs, I398fs, I444fs, I455fs, I456fs, I262fs, I286fs, I432fs, I196fs, I374fsTCF12-related craniosynostosisPathogenic
(Sep 2, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr15:57535705
GRCh38:
Chr15:57243507
TCF12S122fs, S139fs, S188fs, S300fs, S370fs, S358fsTCF12-related craniosynostosisPathogenic
(Sep 2, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr15:57526268-57526269
GRCh38:
Chr15:57234070-57234071
TCF12Q98fs, Q334fs, Q346fs, Q115fs, Q164fs, Q276fsTCF12-related craniosynostosisPathogenic
(Sep 2, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr15:57565394
GRCh38:
Chr15:57273196
TCF12Q638E, Q614E, Q637E, Q419E, Q580E, Q378E, Q444E, Q626E, Q468E, Q556ETCF12-related craniosynostosisPathogenic
(Mar 1, 2013)
no assertion criteria provided
32.
GRCh37:
Chr15:57526308
GRCh38:
Chr15:57234110
TCF12TCF12-related craniosynostosisPathogenic
(Mar 1, 2013)
no assertion criteria provided
33.
GRCh37:
Chr15:57565445
GRCh38:
Chr15:57273247
TCF12E655*, E461*, E654*, E597*, E631*, E436*, E573*, E643*, E395*, E485*TCF12-related craniosynostosisPathogenic
(Mar 1, 2013)
no assertion criteria provided
34.
GRCh37:
Chr15:57555370
GRCh38:
Chr15:57263172
TCF12K355fs, K467fs, K537fs, K289fs, K330fs, K379fs, K491fs, K525fs, K548fs, K549fsTCF12-related craniosynostosisPathogenic
(Mar 1, 2013)
no assertion criteria provided
35.
GRCh37:
Chr15:57524525
GRCh38:
Chr15:57232327
TCF12S241*, S22*, S71*, S183*, S253*TCF12-related craniosynostosisPathogenic
(Mar 1, 2013)
no assertion criteria provided
36.
GRCh37:
Chr15:57554314-57554315
GRCh38:
Chr15:57262116-57262117
TCF12V474fs, V498fs, V416fs, V497fs, V238fs, V279fs, V304fs, V440fs, V486fs, V328fsnot providedPathogenic
(Jun 29, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:57524926
GRCh38:
Chr15:57232728
TCF12S281*, S111*, S293*, S45*, S223*, S62*not providedPathogenic
(Jan 31, 2022)
criteria provided, single submitter
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