Full data view for gene TFE3

Information The variants shown are described using the NM_006521.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-148A>C r.(?) p.(=) Maternal (inferred) - VUS g.48900900T>G g.49043374= - - TFE3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.26G>C r.(?) p.(Arg9Pro) Unknown - likely benign g.48900727C>G g.49043201C>G TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro)) - TFE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.26G>C r.(?) p.(Arg9Pro) Unknown - benign g.48900727C>G g.49043201C>G TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro)) - TFE3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.117-88G>C r.(=) p.(=) Maternal (inferred) - VUS g.48898183C>G g.49040656= - - TFE3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.117-88G>C r.(=) p.(=) Maternal (inferred) - VUS g.48898183C>G g.49040656= - - TFE3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat14 PubMed: Lehalle 2020 - M - - Ashkenazi-Jewish - 0 - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 0.88 mosaic PubMed: Lehalle 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ID Pat15 PubMed: Lehalle 2020 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Diaz 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ID Pat1 PubMed: Diaz 2020 - F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.356A>C r.(?) p.(Gln119Pro) Unknown - pathogenic (dominant) g.48896810T>G g.49039285T>G - - TFE3_000032 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat1/Pat1 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - 1 Johan den Dunnen
-?/. - c.375G>C r.(?) p.(Ala125=) Unknown - likely benign g.48896791C>G g.49039266C>G TFE3(NM_006521.5):c.375G>C (p.A125=) - TFE3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.415G>A r.(?) p.(Ala139Thr) Unknown - likely benign g.48896751C>T g.49039226C>T TFE3(NM_006521.5):c.415G>A (p.A139T) - TFE3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416C>T r.(?) p.(Ala139Val) Parent #1 - VUS g.48896750G>A g.49039225G>A A139V - TFE3_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.468C>T r.(?) p.(Gly156=) Unknown - likely benign g.48896698G>A - TFE3(NM_006521.5):c.468C>T (p.G156=) - TFE3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.551A>G r.(?) p.(Glu184Gly) Unknown - pathogenic (dominant) g.48895951T>C g.49038426T>C - - TFE3_000031 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat10 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.557C>T r.(?) p.(Pro186Leu) Unknown - pathogenic (dominant) g.48895945G>A g.49038420G>A - - TFE3_000030 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat5/Pat2 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.559A>C r.(?) p.(Thr187Pro) Unknown - pathogenic (dominant) g.48895943T>G g.49038418T>G - - TFE3_000029 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat4 PubMed: Lehalle 2020 - F - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.560C>A r.(?) p.(Thr187Lys) Unknown - pathogenic (dominant) g.48895942G>T g.49038417G>T - - TFE3_000028 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat8 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.560C>G r.(?) p.(Thr187Arg) Unknown - pathogenic (dominant) g.48895942G>C g.49038417G>C - - TFE3_000010 0.65 mosaic PubMed: Villegas 2019, PubMed: Lehalle 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ID {at4/Pat17 PubMed: Villegas 2019, PubMed: Lehalle 2020 - M - France - - 0 - - 1 Johan den Dunnen
+?/. - c.560C>G r.(?) p.(Thr187Arg) Unknown - likely pathogenic g.48895942G>C - TFE3(NM_006521.5):c.560C>G (p.T187R) - TFE3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.560C>T r.(?) p.(Thr187Met) Unknown - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat3/Pat3 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.560C>T r.(?) p.(Thr187Met) Unknown - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat11 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.560C>T r.(?) p.(Thr187Met) Unknown - pathogenic (dominant) g.48895942G>A g.49038417G>A - - TFE3_000027 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat16 PubMed: Lehalle 2020 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.566A>G r.(?) p.(Tyr189Cys) Unknown - pathogenic (dominant) g.48895936T>C g.49038411T>C - - TFE3_000026 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat13 PubMed: Lehalle 2020 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.570C>G r.(?) p.(His190Gln) Unknown - pathogenic (dominant) g.48895932G>C g.49038407G>C - - TFE3_000025 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat12 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.572T>C r.(?) p.(Leu191Pro) Unknown - pathogenic (dominant) g.48895930A>G g.49038405A>G - - TFE3_000024 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat5 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.572T>C r.(?) p.(Leu191Pro) Unknown - pathogenic (dominant) g.48895930A>G g.49038405A>G - - TFE3_000024 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat6 PubMed: Lehalle 2020 - F - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.602A>C r.(?) p.(Gln201Pro) Unknown - pathogenic (dominant) g.48895900T>G g.49038375T>G - - TFE3_000023 - PubMed: Villegas 2019, PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID Pat2/Pat7 PubMed: Villegas 2019, PubMed: Lehalle 2020 - F - France - - 0 - - 1 Johan den Dunnen
-?/. - c.667G>A r.(?) p.(Ala223Thr) Unknown - likely benign g.48895835C>T g.49038310C>T TFE3(NM_006521.5):c.667G>A (p.A223T) - TFE3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.780+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48895721C>T g.49038196C>T - - TFE3_000022 - PubMed: Lehalle 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID Pat9 PubMed: Lehalle 2020 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.780+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48895721C>T g.49038196C>T - - TFE3_000022 - PubMed: Diaz 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ID Pat2 PubMed: Diaz 2020 - F - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.1089C>T r.(?) p.(Asn363=) Unknown - likely benign g.48891027G>A g.49033512G>A TFE3(NM_006521.5):c.1089C>T (p.N363=) - TFE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1323A>G r.(?) p.(Val441=) Unknown - benign g.48888074T>C g.49030563T>C TFE3(NM_006521.6):c.1323A>G (p.V441=) - TFE3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1323A>G r.(=) p.(=) Parent #1 - VUS g.48888074T>C g.49030563T>C V441V - TFE3_000008 recurrent, found 64 times; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 64/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 64 Lucy Raymond
-?/. - c.1408G>A r.(?) p.(Gly470Ser) Unknown - likely benign g.48887989C>T g.49030478C>T TFE3(NM_006521.5):c.1408G>A (p.G470S) - TFE3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1439G>A r.(?) p.(Gly480Glu) Unknown - likely benign g.48887958C>T g.49030447C>T TFE3(NM_006521.5):c.1439G>A (p.G480E) - TFE3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1439G>C r.(?) p.(Gly480Ala) Unknown - benign g.48887958C>G g.49030447C>G TFE3(NM_006521.5):c.1439G>C (p.G480A) - TFE3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1450G>A r.(?) p.(Ala484Thr) Unknown - VUS g.48887947C>T g.49030436C>T TFE3(NM_006521.5):c.1450G>A (p.(Ala484Thr)) - TFE3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1451C>T r.(?) p.(Ala484Val) Unknown - likely benign g.48887946G>A g.49030435G>A TFE3(NM_006521.5):c.1451C>T (p.A484V) - TFE3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1484C>T r.(?) p.(Pro495Leu) Unknown - likely benign g.48887913G>A g.49030402G>A TFE3(NM_006521.5):c.1484C>T (p.P495L) - TFE3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1522G>A r.(?) p.(Asp508Asn) Unknown - VUS g.48887875C>T - TFE3(NM_006521.6):c.1522G>A (p.D508N) - TFE3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1592G>A r.(?) p.(Gly531Glu) Unknown - likely benign g.48887805C>T g.49030294C>T TFE3(NM_006521.5):c.1592G>A (p.G531E) - TFE3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1610C>T r.(?) p.(Ser537Leu) Unknown - likely benign g.48887787G>A g.49030276G>A TFE3(NM_006521.5):c.1610C>T (p.(Ser537Leu)) - TFE3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1629A>G r.(?) p.(Pro543=) Unknown - likely benign g.48887768T>C g.49030257T>C TFE3(NM_006521.5):c.1629A>G (p.P543=) - TFE3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1673C>T r.(?) p.(Ala558Val) Unknown - likely benign g.48887724G>A - TFE3(NM_006521.5):c.1673C>T (p.A558V) - TFE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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