All variants in the MITF gene

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

156 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ _1_10_ c.0 r.0? p.0? - pathogenic g.? - 3p interstitial deletion - MITF_000033 whole gene deletion PubMed: Schwarzbraun 2007 - - De novo - - - 0 - Veronique Pingault
+?/? _1_1i c.?_(105-12864_?)dup r.? p.? - likely pathogenic g.?_(69915421_?)dup - ?_1-70453dup - MITF_000039 physiological role duplication is unclear PubMed: Wildhardt 2013 - - Germline - - - 0 - Veronique Pingault
+/+ _1_10_ c.?_(1291_?)del r.? p.? - pathogenic g.(?_69915441)_(70014127_?)del - deletion ex 3-10 - MITF_000034 - PubMed: Milunsky 2007 - - Germline - - - 0 - Veronique Pingault
+/+ _1_10_ c.?_(1291_?)del r.0? p.0? - pathogenic g.(?_69915441)_(70014127_?)del - 1-70433_?_(988_?)del - MITF_000040 - PubMed: Wildhardt 2013 - - De novo - - - 0 - Veronique Pingault
-?/. - c.38T>C r.(?) p.(Val13Ala) - likely benign g.69788786T>C g.69739635T>C MITF(NM_198159.2):c.38T>C (p.V13A) - MITF_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.104+24168G>C r.(=) p.(=) - VUS g.69813020G>C - MITF(NM_006722.2):c.28G>C (p.V10L) - MITF_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.104+24208C>T r.(=) p.(=) - likely benign g.69813060C>T g.69763909C>T MITF(NM_006722.2):c.68C>T (p.T23I) - MITF_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.104+24216T>C r.(=) p.(=) - benign g.69813068T>C g.69763917T>C MITF(NM_006722.2):c.76T>C (p.L26=) - MITF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.104+24216T>C r.(=) p.(=) - likely benign g.69813068T>C g.69763917T>C MITF(NM_006722.2):c.76T>C (p.L26=) - MITF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.104+24226G>A r.(=) p.(=) - likely benign g.69813078G>A - MITF(NM_006722.2):c.86G>A (p.C29Y) - MITF_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.105-12813C>T r.(=) p.(=) - likely benign g.69915472C>T - MITF(NM_198177.2):c.31C>T (p.P11S) - MITF_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.107G>T r.(?) p.(Ser36Ile) - VUS g.69928287G>T g.69879136G>T MITF(NM_198159.2):c.107G>T (p.S36I) - MITF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.118C>T r.(?) p.(His40Tyr) - VUS g.69928298C>T g.69879147C>T MITF(NM_198159.2):c.118C>T (p.H40Y) - MITF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.319C>T r.(?) p.(Pro107Ser) - VUS g.69928499C>T g.69879348C>T MITF(NM_198159.2):c.319C>T (p.P107S) - MITF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.329C>T r.(?) p.(Thr110Met) - VUS g.69928509C>T g.69879358C>T - - MITF_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.330G>A r.(?) p.(Thr110=) - benign g.69928510G>A g.69879359G>A MITF(NM_198159.3):c.330G>A (p.T110=) - MITF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.345A>G r.(?) p.(Glu115=) - likely benign g.69928525A>G - MITF(NM_001354607.1):c.294A>G (p.E98=) - MITF_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2i c.355-1080A>G r.(=) p.(=) - pathogenic g.69985893A>G g.69936742A>G - - MITF_000042 - MORL Deafness Variation Database, PubMed: Chen 2010 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/? 2i c.355-1080A>G r.? p.? - likely benign g.69985893A>G g.69936742A>G NM_000248.3: 20A>G - MITF_000042 likely neutral variant PubMed: Yang 2013 - - Germline - - - 0 - Veronique Pingault
+?/? 2i c.355-1072T>A r.? p.? - likely pathogenic g.69985901T>A g.69936750T>A NM_000248.3: [28T>A;33+6_33+12del] - MITF_000037 - PubMed: Wildhardt 2013 - - Germline - - - 0 - Veronique Pingault
+/+ 2i c.355-1066G>A r.? p.? - pathogenic g.69985907G>A g.69936756G>A NM_000248.3: GT>AG donor splice site at the end of exon 1 - MITF_000001 These 2 families are possibly related PubMed: Tassabehji 1994 - - Germline - - - 0 - Veronique Pingault
+/+ 2i c.355-1066G>A r.? p.? - pathogenic g.69985907G>A g.69936756G>A NM_000248.3: nt 153+1 G>A - MITF_000001 These 2 families are possibly related PubMed: Tassabehji 1995 - - Germline - - - 0 - Veronique Pingault
+?/+? 2i c.355-1062G>C r.? p.? - likely pathogenic g.69985911G>C g.69936760G>C - - MITF_000027 - PubMed: Haddad 2011 - - Germline - - - 0 - Veronique Pingault
-?/. - c.355-1061_355-1055del r.(?) p.(=) - likely benign g.69985912_69985918del - [28T>A;33+6_33+12del] - MITF_000116 - PubMed: Wildhardt 2013 - - Germline - - - 0 - Veronique Pingault
-/. - c.366C>T r.(?) p.(His122=) - benign g.69986984C>T g.69937833C>T MITF(NM_198159.2):c.366C>T (p.H122=), MITF(NM_198159.3):c.366C>T (p.H122=) - MITF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.366C>T r.(?) p.(His122=) - likely benign g.69986984C>T g.69937833C>T MITF(NM_198159.2):c.366C>T (p.H122=), MITF(NM_198159.3):c.366C>T (p.H122=) - MITF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.383dup r.(?) p.(Tyr129ValfsTer22) - pathogenic g.69987001dup g.69937850dup MITF(NM_198159.2):c.383dupA (p.Y129Vfs*22) - MITF_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.452A>C r.(?) p.(His151Pro) - VUS g.69987070A>C - MITF(NM_001354607.1):c.401A>C (p.H134P) - MITF_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.475C>T r.(?) p.(Pro159Ser) - likely benign g.69987093C>T g.69937942C>T - - MITF_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.519G>A r.(?) p.(Pro173=) - likely benign g.69987137G>A - MITF(NM_001354607.1):c.468G>A (p.P156=) - MITF_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.582+22_582+26dup r.(=) p.(=) - benign g.69987222_69987226dup g.69938071_69938075dup MITF(NM_198159.3):c.582+21_582+25dupTCTCC - MITF_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.639C>T r.(?) p.(Asn213=) - likely benign g.69988305C>T g.69939154C>T MITF(NM_198159.2):c.639C>T (p.N213=) - MITF_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.644dup r.(?) p.(His215Glnfs*11) ACMG pathogenic (dominant) g.69988310dup g.69939159dup 323_324insA - MITF_000121 - - - - De novo yes - - 0 - Karina Lezirovitz Mandelbaum
+/. - c.649C>T r.(?) p.(Arg217Ter) - pathogenic g.69988315C>T g.69939164C>T - - MITF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 4 c.649C>T r.(?) p.(Arg217*) - pathogenic g.69988315C>T g.69939164C>T NM_000248.3: 328C>T - MITF_000038 - PubMed: Wildhardt 2013 - - Germline - - - 0 - Veronique Pingault
+?/. 7 c.649del r.(?) p.(Arg217Glufs*10) - likely pathogenic g.69988315del g.69939164del - - MITF_000052 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
?/. - c.653C>T r.(?) p.(Ala218Val) - VUS g.69988319C>T g.69939168C>T MITF(NM_198159.2):c.653C>T (p.A218V) - MITF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 4 c.653C>T r.(?) p.(Ala218Val) - likely benign g.69988319C>T g.69939168C>T NM_000248.3: 332C>T - MITF_000043 - PubMed: Yang 2013 - rs182533927 Unknown - 0.0005 - 0 - Veronique Pingault
-?/. - c.666+8A>G r.(=) p.(=) - likely benign g.69988340A>G g.69939189A>G MITF(NM_198159.3):c.666+8A>G - MITF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.666+15G>C r.(=) p.(=) - likely benign g.69988347G>C g.69939196G>C MITF(NM_198159.3):c.666+15G>C - MITF_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.666+22T>C r.(=) p.(=) - likely benign g.69988354T>C - MITF(NM_000248.3):c.345+22T>C - MITF_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+/+ 5i c.732del r.(?) p.(Met245Trpfs*17) - pathogenic g.69990452del g.69941301del NM_000248.3: 411delG - MITF_000002 - PubMed: Pingault 2010 - - Germline - - - 0 - Veronique Pingault
-?/-? 5 c.736G>A r.(?) p.(Asp246Asn) - likely benign g.69990456G>A g.69941305G>A - - MITF_000108 - MORL Deafness Variation Database, PubMed: Chassaing 2016 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 5i c.763-2A>C r.spl? p.? - pathogenic g.69998200A>C g.69949049A>C - - MITF_000003 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 5i c.763-2A>C r.spl? p.? - pathogenic g.69998200A>C g.69949049A>C NM_000248.3: AG>CG acceptor splice site at the end of intron 4 - MITF_000003 - PubMed: Tassabehji 1994 - - Germline - - - 0 - Veronique Pingault
+/. - c.763-2A>G r.spl? p.? - pathogenic g.69998200A>G g.69949049A>G - - MITF_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 5i c.763-1G>C r.763_880del p.Leu255Serfs*19 - pathogenic g.69998201G>C g.69949050G>C NM_000248.3: IVS4-1G>C - MITF_000004 splice effect verified on RNA PubMed: Monma 2008 - - Germline - - - 0 - Veronique Pingault
-?/. - c.771C>A r.(?) p.(Val257=) - likely benign g.69998210C>A - MITF(NM_001354607.1):c.720C>A (p.V240=) - MITF_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.794A>G r.(?) p.(Tyr265Cys) - VUS g.69998233A>G - MITF(NM_001354607.1):c.743A>G (p.Y248C) - MITF_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 6 c.804A>T r.(?) p.(Gln268His) - likely benign g.69998243A>T g.69949092A>T NM_000248.3: 483A>T - MITF_000005 Does not cosegregate with the disease PubMed: Pingault 2010 - - Germline - - - 0 - Veronique Pingault
-?/. - c.836A>G r.(?) p.(Asn279Ser) - likely benign g.69998275A>G g.69949124A>G MITF(NM_198159.2):c.836A>G (p.N279S) - MITF_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.880+9C>G r.(=) p.(=) - benign g.69998328C>G g.69949177C>G MITF(NM_198159.3):c.880+9C>G - MITF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.880+9C>G r.(=) p.(=) - likely benign g.69998328C>G g.69949177C>G MITF(NM_198159.3):c.880+9C>G - MITF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.880+9C>G r.(=) p.(=) - likely benign g.69998328C>G g.69949177C>G MITF(NM_198159.3):c.880+9C>G - MITF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.881-25T>A r.(=) p.(=) - benign g.70000956T>A g.69951805T>A MITF(NM_198159.3):c.881-25T>A - MITF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/+ 6i c.881-3del r.spl? p.? - pathogenic g.70000978del g.69951827del - - MITF_000025 - MORL Deafness Variation Database, PubMed: Zhang 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 6i c.881-3del r.spl? p.? - pathogenic g.70000978del g.69951827del NM_000248.3: 575delC (Thr192Lysfs*20) - MITF_000025 - PubMed: Chen 2010 - - Germline - - - 0 - Veronique Pingault
-?/. - c.882G>A r.(?) p.(Glu294=) - likely benign g.70000982G>A g.69951831G>A MITF(NM_198159.3):c.882G>A (p.E294=) - MITF_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 6 c.882_883del r.(?) p.(Glu294Aspfs*2) - pathogenic g.70000982_70000983del g.69951831_69951832del NM_000248.3: 2bp del (GT) at nt 699 - MITF_000006 - PubMed: Lautenschlager 1996 - - Germline - - - 0 - Veronique Pingault
-?/-? 7 c.911G>A r.(?) p.(Arg304Lys) - likely benign g.70001011G>A g.69951860G>A NM_000248.3: 608G>A - MITF_000007 Does not cosegregate with the disease PubMed: Tassabehji 1995 - - Germline - - - 0 - Veronique Pingault
+?/+? 7 c.919A>C r.(?) p.(Lys307Gln) - likely pathogenic g.70001019A>C g.69951868A>C NM_000248.3: 616A>C - MITF_000029 - PubMed: Leger 2012 - - Germline - - - 0 - Veronique Pingault
+/. 7 c.921G>C r.(?) p.(Lys307Asn) - pathogenic g.70001021G>C g.69951870G>C - - MITF_000054 - PubMed: George 2016, Journal: George 2016, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.921G>C r.(?) p.(Lys307Asn) - pathogenic g.70001021G>C g.69951870G>C - - MITF_000054 - PubMed: George 2016, Journal: George 2016, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+?/+? 7 c.928C>T r.(?) p.(His310Tyr) - likely pathogenic g.70001028C>T g.69951877C>T - - MITF_000109 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 7 c.933C>G r.(?) p.(Asn311Lys) - pathogenic g.70001033C>G g.69951882C>G - - MITF_000008 - MORL Deafness Variation Database, PubMed: TIietz 1963, PubMed: Grill 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+?/+? 7 c.933C>G r.(?) p.(Asn311Lys) - likely pathogenic g.70001033C>G g.69951882C>G NM_000248.3: G to C at nt 600; Asn210Lys - MITF_000008 - PubMed: Smith 2000 - - Germline - - - 0 - Veronique Pingault
+/+ 7i c.937+1G>A r.spl? p.? - pathogenic g.70001038G>A g.69951887G>A - - MITF_000009 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 7i c.937+1G>A r.spl p.? - pathogenic g.70001038G>A g.69951887G>A NM_000248.3: 634+1G>A - MITF_000009 - PubMed: Pingault 2010 - - Germline - - - 0 - Veronique Pingault
+/. 7i c.938-1G>A r.spl p.? - pathogenic g.70005605G>A g.69956454G>A (Leu312fs*11) - MITF_000056 - PubMed: George 2016, Journal: George 2016, OMIM:var0012 - - Germline - - - 0 - Johan den Dunnen
+/. 7i c.938-1G>A r.spl p.? - pathogenic g.70005605G>A g.69956454G>A - - MITF_000056 - PubMed: George 2016, Journal: George 2016, OMIM:var0012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.938-1G>A r.spl p.? ACMG pathogenic (dominant) g.70005605G>A g.69956454G>A - - MITF_000056 - - - - De novo yes - - 0 - Karina Lezirovitz Mandelbaum
+?/+? 8 c.938T>G r.(?) p.(Ile313Ser) - likely pathogenic g.70005606T>G g.69956455T>G NM_000248.3: 635T>G - MITF_000030 - PubMed: Leger 2012 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.939T>G r.(?) p.(Ile313Met) - pathogenic g.70005607T>G g.69956456T>G - - MITF_000110 - MORL Deafness Variation Database, PubMed: Grill 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. - c.940G>T r.(?) p.(Glu314Ter) - pathogenic g.70005608G>T g.69956457G>T - - MITF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 8 c.942A>C r.(?) p.(Glu314Asp) - likely pathogenic g.70005610A>C g.69956459A>C NM_000248.3: 639A>C - MITF_000032 - - - - De novo - - - 0 - Veronique Pingault
+/+ 8 c.942del r.(?) p.(Glu314Aspfs*8) - pathogenic g.70005610del g.69956459del NM_000248.3: 639delA - MITF_000010 - PubMed: Chen 2008 - - Germline - - - 0 - Veronique Pingault
+/. - c.943C>T r.(?) p.(Arg315Ter) - pathogenic g.70005611C>T g.69956460C>T - - MITF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 8 c.943C>T r.(?) p.(Arg315*) - pathogenic g.70005611C>T g.69956460C>T - - MITF_000011 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+ 8 c.943C>T r.(?) p.(Arg315*) - pathogenic g.70005611C>T g.69956460C>T NM_000248.3: C760>T - MITF_000011 Carried by different haplotypes PubMed: Nobukuni 1996 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.943C>T r.(?) p.(Arg315*) - pathogenic g.70005611C>T g.69956460C>T NM_000248.3: C760>T - MITF_000011 Carried by different haplotypes PubMed: Lalwani 1998 - - Germline - - - 0 - Veronique Pingault
+?/+? 8 c.950G>A r.(?) p.(Arg317Lys) - likely pathogenic g.70005618G>A g.69956467G>A NM_000248.3: 647G>A - MITF_000012 - PubMed: Pingault 2010 - - De novo - - - 0 - Veronique Pingault
+/. 8 c.952A>G r.(?) p.(Arg318Gly) - pathogenic g.70005620A>G g.69956469A>G - - MITF_000044 - PubMed: George 2016, Journal: George 2016, OMIM:var0011 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.952A>G r.(?) p.(Arg318Gly) - pathogenic g.70005620A>G g.69956469A>G - - MITF_000044 - PubMed: George 2016, Journal: George 2016, OMIM:var0011 - - Germline yes - - 0 - Johan den Dunnen
+/+ 8 c.952A>G r.(?) p.(Arg318Gly) - pathogenic g.70005620A>G g.69956469A>G - - MITF_000044 - MORL Deafness Variation Database, PubMed: Chen 2010 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+?/+? 8 c.952A>G r.(?) p.(Arg318Gly) - likely pathogenic g.70005620A>G g.69956469A>G NM_000248.3: 649A>G - MITF_000044 - PubMed: Yang 2013 - - Unknown - - - 0 - Veronique Pingault
+/. 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del - - MITF_000013 - PubMed: George 2016, Journal: George 2016, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del 952_954delAGA - MITF_000013 - PubMed: George 2016, Journal: George 2016, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+?/+ 8 c.952_954del r.(?) p.(Arg318del) - likely pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: del (R217) - MITF_000013 - PubMed: Tassabehji 1995 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: del (R217) - MITF_000013 - PubMed: Izumi 2008 - - De novo - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: 649_651delAGA - MITF_000013 - PubMed: Pingault 2010 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: del p.R217 - MITF_000013 - PubMed: Chiang 2009 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: 648_650delAAG - MITF_000013 - PubMed: Chen 2010 - - Unknown - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: 648_650delAAG - MITF_000013 - PubMed: Chen 2010 - - Unknown - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: 648_650delAAG - MITF_000013 - PubMed: Chen 2010 - - Unknown - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: deletion at 647 to 649 (TTC) ; delR217 - MITF_000013 Loss of the transactivation capabilities on the tyrosinase gene promoter PubMed: Shigemura 2010 - - Germline - - - 0 - Veronique Pingault
+/+ 8 c.952_954del r.(?) p.(Arg318del) - pathogenic g.70005620_70005622del g.69956469_69956471del NM_000248.3: 647_649delGAA - MITF_000013 - PubMed: Yang 2013 - - De novo - - - 0 - Veronique Pingault
+/+ 8 c.953G>T r.(?) p.(Arg318Ile) - pathogenic g.70005621G>T g.69956470G>T - - MITF_000026 - MORL Deafness Variation Database, PubMed: Feng 2007, PubMed: Zhang 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/+? 8 c.953G>T r.(?) p.(Arg318Ile) - pathogenic g.70005621G>T g.69956470G>T NM_000248.3: Arg to Ile at 217 - MITF_000026 - PubMed: Chen 2010 - - Unknown - - - 0 - Veronique Pingault
+?/+? 8 c.953G>T r.(?) p.(Arg318Ile) - likely pathogenic g.70005621G>T g.69956470G>T NM_000248.3: 650G>T - MITF_000026 - PubMed: Leger 2012 - - Germline - - - 0 - Veronique Pingault
+?/+? 8 c.953G>T r.(?) p.(Arg318Ile) - likely pathogenic g.70005621G>T g.69956470G>T NM_000248.3: 650G>T - MITF_000026 - PubMed: Wildhardt 2013 - - De novo - - - 0 - Veronique Pingault
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