Unique variants in the MITF gene

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

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

Reported     

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 _1_10_ c.0 r.0? p.0? - pathogenic g.? - 3p interstitial deletion - MITF_000033 whole gene deletion PubMed: Schwarzbraun 2007 - - De novo - - - - - Veronique Pingault
+?/? 1 _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 - - - - - Veronique Pingault
+/+ 2 _1_10_ c.?_(1291_?)del r.0?, r.? p.0?, p.? - pathogenic g.(?_69915441)_(70014127_?)del - 1-70433_?_(988_?)del, deletion ex 3-10 - MITF_000034, MITF_000040 - PubMed: Milunsky 2007, PubMed: Wildhardt 2013 - - De novo, Germline - - - - - Veronique Pingault
-?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-/., -?/. 2 - c.104+24216T>C r.(=) p.(=) - benign, 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, VKGL-NL_AMC
-?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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
+/+, -?/? 2 2i c.355-1080A>G r.(=), r.? p.(=), p.? - likely benign, pathogenic g.69985893A>G g.69936742A>G NM_000248.3: 20A>G - MITF_000042 likely neutral variant MORL Deafness Variation Database, PubMed: Chen 2010, PubMed: Yang 2013 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+?/? 1 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 - - - - - Veronique Pingault
+/+ 2 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, NM_000248.3: nt 153+1 G>A - MITF_000001 These 2 families are possibly related PubMed: Tassabehji 1994, PubMed: Tassabehji 1995 - - Germline - - - - - Veronique Pingault
+?/+? 1 2i c.355-1062G>C r.? p.? - likely pathogenic g.69985911G>C g.69936760G>C - - MITF_000027 - PubMed: Haddad 2011 - - Germline - - - - - Veronique Pingault
-?/. 1 - c.355-1061_355-1055del r.(?) p.(=) - likely benign g.69985912_69985918del - [28T>A;33+6_33+12del] - MITF_000116 - PubMed: Wildhardt 2013 - - Germline - - - - - Veronique Pingault
-/., -?/. 2 - c.366C>T r.(?) p.(His122=) - benign, 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, VKGL-NL_AMC
+/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-/. 1 - 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
-?/. 1 - 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
+?/. 1 - c.644dup r.(?) p.(His215Glnfs*11) ACMG pathogenic (dominant) g.69988310dup g.69939159dup 323_324insA - MITF_000121 - - - - De novo yes - - - - Karina Lezirovitz Mandelbaum
+/+, +/. 2 4 c.649C>T r.(?) p.(Arg217*), p.(Arg217Ter) - pathogenic g.69988315C>T g.69939164C>T NM_000248.3: 328C>T - MITF_000038 VKGL data sharing initiative Nederland PubMed: Wildhardt 2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Veronique Pingault
+?/. 1 7 c.649del r.(?) p.(Arg217Glufs*10) - likely pathogenic g.69988315del g.69939164del - - MITF_000052 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
-?/-?, ?/. 2 4 c.653C>T r.(?) p.(Ala218Val) - likely benign, VUS g.69988319C>T g.69939168C>T MITF(NM_198159.2):c.653C>T (p.A218V), NM_000248.3: 332C>T - MITF_000043 VKGL data sharing initiative Nederland PubMed: Yang 2013 - rs182533927 CLASSIFICATION record, Unknown - 0.0005 - - - VKGL-NL_Rotterdam, Veronique Pingault
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+/+ 1 5i c.732del r.(?) p.(Met245Trpfs*17) - pathogenic g.69990452del g.69941301del NM_000248.3: 411delG - MITF_000002 - PubMed: Pingault 2010 - - Germline - - - - - Veronique Pingault
-?/-? 1 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 - - - - - Global Variome, with Curator vacancy
+/+ 2 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 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Tassabehji 1994 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/. 1 - 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
+/+ 1 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 - - - - - Veronique Pingault
-?/. 1 - 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
?/. 1 - 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
-?/-? 1 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 - - - - - Veronique Pingault
-?/. 1 - 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
-/., -?/. 3 - c.880+9C>G r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_AMC
+/+ 2 6i c.881-3del r.spl? p.? - pathogenic g.70000978del g.69951827del NM_000248.3: 575delC (Thr192Lysfs*20) - MITF_000025 - MORL Deafness Variation Database, PubMed: Zhang 2012, PubMed: Chen 2010 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/+ 1 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 - - - - - Veronique Pingault
-?/-? 1 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 - - - - - Veronique Pingault
+?/+? 1 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 - - - - - Veronique Pingault
+/. 2 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 - - - - - Johan den Dunnen
+?/+? 1 7 c.928C>T r.(?) p.(His310Tyr) - likely pathogenic g.70001028C>T g.69951877C>T - - MITF_000109 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +?/+? 2 7 c.933C>G r.(?) p.(Asn311Lys) - likely pathogenic, pathogenic g.70001033C>G g.69951882C>G NM_000248.3: G to C at nt 600; Asn210Lys - MITF_000008 - MORL Deafness Variation Database, PubMed: TIietz 1963, PubMed: Grill 2013, PubMed: Smith 2000 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 2 7i c.937+1G>A r.spl, r.spl? p.? - pathogenic g.70001038G>A g.69951887G>A NM_000248.3: 634+1G>A - MITF_000009 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 2010 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/. 3 7i c.938-1G>A r.spl p.? ACMG pathogenic, pathogenic (dominant) g.70005605G>A g.69956454G>A (Leu312fs*11) - MITF_000056 - PubMed: George 2016, Journal: George 2016, OMIM:var0012 - - De novo, Germline yes - - - - Johan den Dunnen, Karina Lezirovitz Mandelbaum
+?/+? 1 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 - - - - - Veronique Pingault
+/+ 1 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 - - - - - Global Variome, with Curator vacancy
+/. 1 - c.940G>T r.(?) p.(Glu314Ter) - pathogenic g.70005608G>T g.69956457G>T - - MITF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 8 c.942A>C r.(?) p.(Glu314Asp) - likely pathogenic g.70005610A>C g.69956459A>C NM_000248.3: 639A>C - MITF_000032 - - - - De novo - - - - - Veronique Pingault
+/+ 1 8 c.942del r.(?) p.(Glu314Aspfs*8) - pathogenic g.70005610del g.69956459del NM_000248.3: 639delA - MITF_000010 - PubMed: Chen 2008 - - Germline - - - - - Veronique Pingault
+/+, +/. 4 8 c.943C>T r.(?) p.(Arg315*), p.(Arg315Ter) - pathogenic g.70005611C>T g.69956460C>T NM_000248.3: C760>T - MITF_000011 Carried by different haplotypes, VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Lalwani 1998, PubMed: Nobukuni 1996 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen, Veronique Pingault
+?/+? 1 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 - - - - - Veronique Pingault
+/+, +/., +?/+? 4 8 c.952A>G r.(?) p.(Arg318Gly) - likely pathogenic, pathogenic g.70005620A>G g.69956469A>G NM_000248.3: 649A>G - MITF_000044 - MORL Deafness Variation Database, PubMed: Chen 2010, PubMed: Yang 2013, 1 more item - - Germline, SUMMARY record, Unknown yes - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Veronique Pingault
+/+, +/., +?/+ 11 8 c.952_954del r.(?) p.(Arg318del) - likely pathogenic, pathogenic g.70005620_70005622del g.69956469_69956471del 952_954delAGA, NM_000248.3: 647_649delGAA, NM_000248.3: 648_650delAAG, NM_000248.3: 649_651delAGA, 3 more items - MITF_000013 Loss of the transactivation capabilities on the tyrosinase gene promoter PubMed: Chen 2010, PubMed: Chiang 2009, PubMed: George 2016, Journal: George 2016, OMIM:var0003, 5 more items - - De novo, Germline, Unknown - - - - - Johan den Dunnen, Veronique Pingault
+/+, +/+?, +?/+? 4 8 c.953G>T r.(?) p.(Arg318Ile) - likely pathogenic, pathogenic g.70005621G>T g.69956470G>T NM_000248.3: 650G>T, NM_000248.3: Arg to Ile at 217 - MITF_000026 - MORL Deafness Variation Database, PubMed: Feng 2007, PubMed: Zhang 2012, PubMed: Chen 2010, 2 more items - - De novo, Germline, SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/. 1 - c.971G>T r.(?) p.(Arg324Leu) - pathogenic g.70005639G>T g.69956488G>T - - MITF_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 8 c.974T>G r.(?) p.(Ile325Ser) - likely pathogenic g.70005642T>G g.69956491T>G NM_000248.3: 671T>G - MITF_000014 - PubMed: Pingault 2010 - - Germline - - - - - Veronique Pingault
+/+ 1 8 c.1002_1003del r.(?) p.(Lys334Asnfs*3) - pathogenic g.70005670_70005671del g.69956519_69956520del - - MITF_000111 - MORL Deafness Variation Database, PubMed: Lautenschlager 1996 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/., +?/. 4 7, 8i c.1013+1G>A r.(?), r.spl, r.spl? p.(?), p.? - likely pathogenic, pathogenic g.70005682G>A g.69956531G>A MITF c.710+1G>A, splice, MITF(NM_198159.2):c.1013+1G>A, NM_000248.3: 710+1G>A - MITF_000015 different transcript: NM_000248.3(MITF):c.710+1G>A, heterozygous, 1 more item MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Birtel 2020, PubMed: Pingault 2010 - - CLASSIFICATION record, De novo, SUMMARY record, Unknown ? - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, Veronique Pingault
+/+, +?/+? 2 8i c.1013+5G>T r.spl? p.? - likely pathogenic, pathogenic g.70005686G>T g.69956535G>T NM_000248.3: 710+5G>T - MITF_000016 In silico analysis predicts a possible loss of splice site MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 2010;PubMed: Haddad 2011 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
-?/. 1 - c.1013+14C>T r.(=) p.(=) - likely benign g.70005695C>T g.69956544C>T MITF(NM_198159.3):c.1013+14C>T - MITF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1014-4G>A r.spl? p.? - benign g.70008420G>A g.69959269G>A MITF(NM_198159.3):c.1014-4G>A - MITF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1021C>T r.(?) p.(Arg341Cys) - likely benign g.70008431C>T g.69959280C>T - - MITF_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1026dup r.(?) p.(Asn343Glufs*27) ACMG likely pathogenic g.70008436dup - - - MITF_000119 - - - - Germline - - - - - Ehsan Razmara
+/+ 1 9 c.1045_1050delinsTAG r.(?) p.(Lys349*) - pathogenic g.70008455_70008460delinsTAG g.69959304_69959309delinsTAG NM_000248.3: [742_743delAAinsT;746_747delCA] - MITF_000035 - PubMed: Yan 2011 - - Germline - - - - - Veronique Pingault
+?/+? 1 9 c.1051T>C r.(?) p.(Ser351Pro) - likely pathogenic g.70008461T>C g.69959310T>C NM_000248.3: 748T>C - MITF_000017 - PubMed: Tassabehji 1995 - - Germline - - - - - Veronique Pingault
+?/. 2 - c.1052C>A r.(?) p.(Ser351Tyr) ACMG likely pathogenic (dominant) g.70008462C>A - - - MITF_000120 - - - - Germline, Unknown yes - - - - Karina Lezirovitz Mandelbaum
+?/+? 1 9 c.1061A>G r.(?) p.(Tyr354Cys) - likely pathogenic g.70008471A>G g.69959320A>G NM_000248.3: Y253C - MITF_000023 - PubMed: Read 1997 - - Germline - - - - - Veronique Pingault
+/+ 2 9 c.1066C>T r.(?) p.(Arg356*) - pathogenic g.70008476C>T g.69959325C>T NM_000248.3: 763C>T - MITF_000036 - PubMed: Yang 2013 - - Germline - - - - - Veronique Pingault
+/+, +?/. 4 9 c.1078C>T r.(?) p.(Arg360*), p.(Arg360Ter) - likely pathogenic, pathogenic g.70008488C>T g.69959337C>T MITF(NM_198159.3):c.1078C>T (p.R360*), NM_000248.3: 775C>T, NM_000248.3: C895>T - MITF_000018 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Nobukuni 1996, PubMed: Pingault 2010 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_VUmc, Veronique Pingault
+/+ 1 9 c.1109del r.(?) p.(Asn370Thrfs*43) - pathogenic g.70008519del g.69959368del NM_000248.3: 806delA - MITF_000019 - PubMed: Pingault 2010 - - Germline - - - - - Veronique Pingault
+/+ 1 9 c.1127del r.(?) p.(Glu376Glyfs*37) - pathogenic g.70008537del g.69959386del NM_000248.3: delA at nt 944 (codon 275) - MITF_000020 - PubMed: Morell 1997 - - Germline - - - - - Veronique Pingault
-?/. 2 - c.1132G>A r.(?) p.(Ala378Thr) - likely benign g.70008542G>A g.69959391G>A MITF(NM_001354607.1):c.1081G>A (p.A361T), MITF(NM_198159.3):c.1132G>A (p.A378T) - MITF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/+? 1 9 c.1135A>G r.(?) p.(Asn379Asp) - likely pathogenic g.70008545A>G g.69959394A>G NM_000248.3: 832A>G - MITF_000024 Inherited from an unaffected father PubMed: Tassabehji 1995 - - Unknown - - - - - Veronique Pingault
-?/., ?/. 2 - c.1141C>T r.(?) p.(His381Tyr) - likely benign, VUS g.70008551C>T g.69959400C>T MITF(NM_001354607.1):c.1090C>T (p.H364Y) - MITF_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/+? 1 9 c.1151T>C r.(?) p.(Leu384Pro) - likely pathogenic g.70008561T>C g.69959410T>C NM_000248.3: 848T>C - MITF_000041 In vitro loss of function PubMed: Grill 2013 - - Germline - - - - - Veronique Pingault
-/. 1 - c.1161+4C>T r.spl? p.? - benign g.70008575C>T g.69959424C>T MITF(NM_198159.3):c.1161+4C>T - MITF_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1162-4A>G r.spl? p.? - likely benign g.70013994A>G g.69964843A>G MITF(NM_198159.2):c.1162-4A>G - MITF_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1164A>T r.(?) p.(Glu388Asp) - likely benign g.70014000A>T g.69964849A>T - - MITF_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 10 c.1180C>T r.(?) p.(Arg394*), p.(Arg394Ter) - likely pathogenic (dominant), pathogenic g.70014016C>T g.69964865C>T - - MITF_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes 1/30 patients analysed in this study - - - VKGL-NL_Nijmegen, Viviana Karina Dalamón
+/. 1 10 c.1190del r.(?) p.(Gly397Aspfs*16) - pathogenic g.70014026del g.69964875del 1189delG - MITF_000051 0/224 controls - - - Germline yes 0/165 patients - - - Zippi Brownstein
+/+, +?/-? 2 10 c.1195T>C r.(?) p.(Ser399Pro) - likely pathogenic, pathogenic g.70014031T>C g.69964880T>C NM_000248.3: 892T>C - MITF_000021 1 more item MORL Deafness Variation Database, PubMed: Takeda 2000, PubMed: Grill 2013, PubMed: Tassabehji 1995 - rs104893747 Germline, SUMMARY record - 0.0003 - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+, +/. 2 10 c.1212G>A r.(?), r.1162_1213del p.(Thr404=), p.? - pathogenic g.70014048G>A g.69964897G>A NM_000248.3: 1212G>A, Thr404Thr - MITF_000028 Splice effect verified on RNA, VKGL data sharing initiative Nederland PubMed: Brenner 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Veronique Pingault
?/. 1 - c.1235T>C r.(?) p.(Val412Ala) - VUS g.70014071T>C g.69964920T>C - - MITF_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1236del r.(?) p.(Asn413Ilefs*24) - likely benign g.70014072del - 635-5delT - MITF_000115 - PubMed: Leger 2012 - - Germline - - - - - Veronique Pingault
?/. 1 - c.1240C>T r.(?) p.(Arg414Trp) - VUS g.70014076C>T g.69964925C>T MITF(NM_198159.2):c.1240C>T (p.R414W) - MITF_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 10 c.1255G>A r.(?) p.(Glu419Lys) - VUS g.70014091G>A g.69964940G>A - - MITF_000102 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/+?, -/., -?/. 3 10 c.1262T>C r.(?) p.(Val421Ala) - benign, likely benign, likely pathogenic g.70014098T>C g.69964947T>C MITF(NM_001354607.1):c.1211T>C (p.V404A), MITF(NM_198159.3):c.1262T>C (p.V421A) - MITF_000076 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Hatvani 2014 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1278C>T r.(?) p.(Ser426=) - likely benign g.70014114C>T - MITF(NM_001354607.1):c.1227C>T (p.S409=) - MITF_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1318A>G r.(?) p.(Thr440Ala) - likely benign g.70014154A>G g.69965003A>G MITF(NM_198159.2):c.1318A>G (p.T440A) - MITF_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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