All variants in the TWIST1 gene

Information The variants shown are described using the NM_000474.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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 c.-263C>A r.(=) p.(=) - pathogenic g.19157207G>T g.19117584G>T - - TWIST1_000045 - - - - Germline yes - - - - Stephen Twigg
+/. 1 c.-255G>A r.(=) p.(=) - pathogenic g.19157199C>T g.19117576C>T - - TWIST1_000046 - - - - Germline - - - - - Stephen Twigg
?/. - c.-33G>C r.(?) p.(=) - VUS g.19156977C>G - TWIST1(NM_000474.4):c.-33G>C - TWIST1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - - r.? p.? - pathogenic (dominant) g.18476862_18907163dup g.18437239_18867540dup - - HDAC9_000003 evidence of pathogeniticy provided in paper; expression of TWIST1 gene raised PubMed: Romanelli Tavares 2022 - - Germline yes - - - - Maria Rita Passos-Bueno
+/. - c.-351_*706{0} r.0? p.0? ACMG pathogenic g.15405139_21985421del g.15365516_21945798del - - TWIST1_000079 - - - - De novo yes - - - - Jasmina Comic
+/. - c.10del r.(?) p.(Asp4ThrfsTer14) - pathogenic g.19156936del g.19117313del TWIST1(NM_000474.3):c.10delG (p.D4Tfs*14) - TWIST1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.71C>T r.(?) p.(Pro24Leu) - VUS g.19156874G>A - TWIST1(NM_000474.4):c.71C>T (p.(Pro24Leu)) - TWIST1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.94G>A r.(?) p.(Gly32Ser) - likely benign g.19156851C>T g.19117228C>T TWIST1(NM_000474.3):c.94G>A (p.(Gly32Ser)), TWIST1(NM_000474.4):c.94G>A (p.G32S) - TWIST1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.94G>A r.(?) p.(Gly32Ser) - likely benign g.19156851C>T g.19117228C>T TWIST1(NM_000474.3):c.94G>A (p.(Gly32Ser)), TWIST1(NM_000474.4):c.94G>A (p.G32S) - TWIST1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.94G>A r.(?) p.(Gly32Ser) - likely benign g.19156851C>T - TWIST1(NM_000474.3):c.94G>A (p.(Gly32Ser)), TWIST1(NM_000474.4):c.94G>A (p.G32S) - TWIST1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.123_151del r.(?) p.(Ser41ArgfsTer187) - pathogenic g.19156795_19156823del g.19117172_19117200del TWIST1(NM_000474.3):c.123_151delCAGCAGGCGCAGCGCGGGCGGCGGCGCGG (p.S41Rfs*187) - TWIST1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.140G>A r.(?) p.(Gly47Asp) - likely benign g.19156805C>T - TWIST1(NM_000474.3):c.140G>A (p.G47D) - TWIST1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.141_152del r.(?) p.(Gly48_Gly51del) - VUS g.19156800_19156811del - TWIST1(NM_000474.3):c.141_152del (p.(Gly48_Gly51del)) - TWIST1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.142G>C r.(?) p.(Gly48Arg) - VUS g.19156803C>G g.19117180C>G TWIST1(NM_000474.3):c.142G>C (p.(Gly48Arg)) - TWIST1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.156del r.(?) p.(Gly53AlafsTer72) - pathogenic g.19156791del g.19117168del TWIST1(NM_000474.3):c.156delC (p.G53Afs*72) - TWIST1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.163G>A r.(?) p.(Ala55Thr) - likely benign g.19156782C>T - TWIST1(NM_000474.3):c.163G>A (p.(Ala55Thr)) - TWIST1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.164C>A r.(?) p.(Ala55Asp) - VUS g.19156781G>T - TWIST1(NM_000474.3):c.164C>A (p.(Ala55Asp)) - TWIST1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.180C>T r.(?) p.(Val60=) - likely benign g.19156765G>A g.19117142G>A TWIST1(NM_000474.3):c.180C>T (p.V60=) - TWIST1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.190_200dup r.(?) p.(Ser68Thrfs*61) - pathogenic g.19156745_19156755dup - TWIST1(NM_000474.3):c.190_200dupGACGAGCCGGG (p.S68Tfs*61) - TWIST1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.200del r.(?) p.(Gly67Alafs*58) - likely pathogenic g.19156747del g.19117124del - - TWIST1_000001 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
?/. - c.203G>T r.(?) p.(Ser68Ile) - VUS g.19156742C>A g.19117119C>A TWIST1(NM_000474.3):c.203G>T (p.(Ser68Ile)) - TWIST1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.254_259dup r.(?) p.(Gly85_Gly86dup) - VUS g.19156696_19156701dup - TWIST1(NM_000474.4):c.254_259dup (p.(Gly85_Gly86dup)) - TWIST1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.257_259dup r.(?) p.(Gly86dup) - likely benign g.19156699_19156701dup g.19117076_19117078dup TWIST1(NM_000474.3):c.257_259dupGCG (p.(Gly86dup)), TWIST1(NM_000474.3):c.257_259dupGCG (p.G86dup), TWIST1(NM_000474.4):c.257_259dupGCG (p.G86dup) - TWIST1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.257_259dup r.(?) p.(Gly86dup) - VUS g.19156699_19156701dup g.19117076_19117078dup TWIST1(NM_000474.3):c.257_259dupGCG (p.(Gly86dup)), TWIST1(NM_000474.3):c.257_259dupGCG (p.G86dup), TWIST1(NM_000474.4):c.257_259dupGCG (p.G86dup) - TWIST1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.257_259dup r.(?) p.(Gly86dup) - likely benign g.19156699_19156701dup - TWIST1(NM_000474.3):c.257_259dupGCG (p.(Gly86dup)), TWIST1(NM_000474.3):c.257_259dupGCG (p.G86dup), TWIST1(NM_000474.4):c.257_259dupGCG (p.G86dup) - TWIST1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.259_276del r.(?) p.(Ala87_Gly92del) - benign g.19156684_19156701del - TWIST1(NM_000474.3):c.259_276del (p.(Ala87_Gly92del)) - TWIST1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.259_276dup r.(?) p.(Ala87_Gly92dup) - VUS g.19156684_19156701dup g.19117061_19117078dup - - TWIST1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.274_294del r.(?) p.(Gly92_Gly98del) - VUS g.19156651_19156671del g.19117028_19117048del TWIST1(NM_000474.3):c.274_294del (p.(Gly92_Gly98del)), TWIST1(NM_000474.4):c.274_294delGGCAGCAGCAGCGGCGGCGGG (p.G92_G98del) - TWIST1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.274_294del r.(?) p.(Gly92_Gly98del) - likely benign g.19156651_19156671del - TWIST1(NM_000474.3):c.274_294del (p.(Gly92_Gly98del)), TWIST1(NM_000474.4):c.274_294delGGCAGCAGCAGCGGCGGCGGG (p.G92_G98del) - TWIST1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.276_293dup r.(?) p.(Ser94_Ser99dup) - VUS g.19156662_19156679dup - TWIST1(NM_000474.3):c.276_293dupCAGCAGCAGCGGCGGCGG (p.(Gly98_Ser99insSerSerSerGlyGlyGly)) - TWIST1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.276_294dup r.(?) p.(Ser99GlnfsTer145) - benign g.19156653_19156671dup g.19117030_19117048dup TWIST1(NM_000474.3):c.276_294dupCAGCAGCAGCGGCGGCGGG (p.S99Qfs*145) - TWIST1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.277A>G r.(?) p.(Ser93Gly) - likely benign g.19156668T>C g.19117045T>C TWIST1(NM_000474.3):c.277A>G (p.S93G, p.(Ser93Gly)) - TWIST1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.277A>G r.(?) p.(Ser93Gly) - likely benign g.19156668T>C g.19117045T>C TWIST1(NM_000474.3):c.277A>G (p.S93G, p.(Ser93Gly)) - TWIST1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.277_291dup r.(?) p.(Ser93_Gly97dup) - VUS g.19156662_19156676dup - TWIST1(NM_000474.3):c.277_291dupAGCAGCAGCGGCGGC (p.(Gly97_Gly98insSerSerSerGlyGly)) - TWIST1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.301C>G r.(?) p.(Gln101Glu) - likely benign g.19156644G>C - TWIST1(NM_000474.3):c.301C>G (p.(Gln101Glu)) - TWIST1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.309C>A r.(?) p.(Tyr103Ter) - pathogenic g.19156636G>T g.19117013G>T TWIST1(NM_000474.3):c.309C>A (p.Y103*) - TWIST1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.309C>G r.(?) p.(Tyr103Ter) - pathogenic g.19156636G>C g.19117013G>C TWIST1(NM_000474.3):c.309C>G (p.Y103*) - TWIST1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.326_343del r.(?) p.(Gln109_Val115delinsLeu) - pathogenic g.19156602_19156619del g.19116979_19116996del TWIST1(NM_000474.3):c.326_343delAGCGGGTCATGGCCAACG (p.Q109_V115delinsL) - TWIST1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.328C>T r.(?) p.(Arg110Trp) - VUS g.19156617G>A g.19116994G>A TWIST1(NM_000474.3):c.328C>T (p.R110W) - TWIST1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.340A>G r.(?) p.(Asn114Asp) - pathogenic g.19156605T>C g.19116982T>C TWIST1(NM_000474.3):c.340A>G (p.N114D) - TWIST1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.340A>T r.(?) p.(Asn114Tyr) - VUS g.19156605T>A - TWIST1(NM_000474.4):c.340A>T (p.N114Y) - TWIST1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.340A>T r.(?) p.(Asn114Tyr) - likely pathogenic g.19156605T>A - TWIST1(NM_000474.4):c.340A>T (p.N114Y) - TWIST1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.341A>G r.(?) p.(Asn114Ser) - pathogenic g.19156604T>C g.19116981T>C TWIST1(NM_000474.3):c.341A>G (p.N114S) - TWIST1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.346C>G r.(?) p.(Arg116Gly) - VUS g.19156599G>C g.19116976G>C TWIST1(NM_000474.3):c.346C>G (p.R116G) - TWIST1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.346C>T r.(?) p.(Arg116Trp) - likely pathogenic g.19156599G>A g.19116976G>A - - TWIST1_000002 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown ? - - - - Karen E. Heath
?/. - c.347G>A r.(?) p.(Arg116Gln) - VUS g.19156598C>T g.19116975C>T TWIST1(NM_000474.3):c.347G>A (p.R116Q) - TWIST1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.352C>T r.(?) p.(Arg118Cys) - pathogenic g.19156593G>A - - - TWIST1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.362C>T r.(?) p.(Thr121Ile) - pathogenic g.19156583G>A g.19116960G>A TWIST1(NM_000474.3):c.362C>T (p.T121I) - TWIST1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.364C>T r.(?) p.(Gln122Ter) - pathogenic g.19156581G>A g.19116958G>A TWIST1(NM_000474.3):c.364C>T (p.Q122*) - TWIST1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.368C>A r.(?) p.(Ser123*) - likely pathogenic g.19156577G>T g.19116954G>T - - TWIST1_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
+/. - c.368C>A r.(?) p.(Ser123Ter) - pathogenic g.19156577G>T g.19116954G>T TWIST1(NM_000474.3):c.368C>A (p.S123*) - TWIST1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.368C>A r.(?) p.(Ser123Ter) - pathogenic g.19156577G>T g.19116954G>T TWIST1(NM_000474.3):c.368C>A (p.S123*) - TWIST1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.368C>G r.(?) p.(Ser123Trp) - pathogenic g.19156577G>C g.19116954G>C TWIST1(NM_000474.3):c.368C>G (p.S123W) - TWIST1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.375C>G r.(?) p.(Asn125Lys) - VUS g.19156570G>C g.19116947G>C - - TWIST1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.385_405dup r.(?) p.(Ala129_Ile135dup) - likely pathogenic g.19156540_19456560dup - - - TWIST1_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
+/. - c.386_406del r.(?) p.(Ala130_Pro136del) - likely pathogenic (dominant) g.19156539_19156559del g.19116916_19116936del NM_000474.3:c.388_408del:p.(Ala130_Pro136del) - TWIST1_000070 - PubMed: Maddirevula 2018 - - De novo - - - - - LOVD
+/. - c.392T>A r.(?) p.(Leu131Gln) - pathogenic g.19156553A>T g.19116930A>T TWIST1(NM_000474.3):c.392T>A (p.L131Q) - TWIST1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.394C>T r.(?) p.(Arg132Trp) - likely pathogenic g.19156551G>A g.19116928G>A - - TWIST1_000005 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
+?/. 1 c.394C>T r.(?) p.(Arg132Trp) - likely pathogenic g.19156551G>A g.19116928G>A - - TWIST1_000005 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
+/. - c.395_415dup r.(?) p.(Arg132_Leu138dup) - pathogenic g.19156536_19156556dup g.19116913_19116933dup TWIST1(NM_000474.3):c.395_415dupGGAAGATCATCCCCACGCTGC (p.R132_L138dup) - TWIST1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.396_416dup r.(?) p.(Lys133_Pro139dup) - likely pathogenic g.19156529_19156549dup - - - TWIST1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.397_417dup r.(?) p.(Lys133_Pro139dup) ACMG VUS g.19156528_19156548dup g.19116905_19116925dup - - TWIST1_000074 - - - - Germline ? - - - - Malak Alghamdi
+?/. - c.404T>G r.(?) p.(Ile135Ser) - VUS g.19156541A>C - - - TWIST1_000075 - - - - Germline yes - - - - Malak Alghamdi
+/. - c.406C>T r.(?) p.(Pro136Ser) - pathogenic g.19156539G>A g.19116916G>A TWIST1(NM_000474.3):c.406C>T (p.P136S) - TWIST1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.407C>A r.(?) p.(Pro136His) - pathogenic g.19156538G>T g.19116915G>T TWIST1(NM_000474.3):c.407C>A (p.P136H) - TWIST1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.410C>T r.(?) p.(Thr137Met) - pathogenic g.19156535G>A g.19116912G>A TWIST1(NM_000474.3):c.410C>T (p.T137M) - TWIST1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.415C>T r.(?) p.(Pro139Ser) - likely pathogenic g.19156530G>A g.19116907G>A - - TWIST1_000006 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+/. - c.415C>T r.(?) p.(Pro139Ser) - pathogenic g.19156530G>A g.19116907G>A TWIST1(NM_000474.3):c.415C>T (p.P139S) - TWIST1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.416C>T r.(?) p.(Pro139Leu) - likely pathogenic g.19156529G>A g.19116906G>A TWIST1(NM_000474.3):c.416C>T (p.P139L) - TWIST1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.419C>T r.(?) p.(Ser140Leu) ACMG VUS g.19156526G>A - - - TWIST1_000076 - - - - Germline ? - - - - Malak Alghamdi
-/. - c.420G>A r.(?) p.(Ser140=) - benign g.19156525C>T g.19116902C>T TWIST1(NM_000474.3):c.420G>A (p.S140=) - TWIST1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.421G>C r.(?) p.(Asp141His) - VUS g.19156524C>G g.19116901C>G - - TWIST1_000041 - - - - De novo - - - - - Anshuman Sewda
+/. - c.425A>G r.(?) p.(Lys142Arg) - pathogenic g.19156520T>C g.19116897T>C - - TWIST1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.426G>C r.(?) p.(Lys142Asn) - VUS g.19156519C>G g.19116896C>G TWIST1(NM_000474.3):c.426G>C (p.K142N) - TWIST1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.435G>C r.(?) p.(Lys145Asn) - VUS g.19156510C>G g.19116887C>G - - TWIST1_000040 - - - - De novo - - - - - Anshuman Sewda
?/. - c.437T>G r.(?) p.(Ile146Ser) - VUS g.19156508A>C g.19116885A>C TWIST1(NM_000474.3):c.437T>G (p.I146S) - TWIST1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.443C>A r.(?) p.(Thr148Asn) - pathogenic g.19156502G>T g.19116879G>T TWIST1(NM_000474.3):c.443C>A (p.T148N) - TWIST1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.470A>C r.(?) p.(Asp157Ala) - VUS g.19156475T>G g.19116852T>G TWIST1(NM_000474.3):c.470A>C (p.D157A) - TWIST1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.487C>T r.(?) p.(Leu163Phe) - likely pathogenic g.19156458G>A g.19116835G>A - - TWIST1_000007 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
-?/. - c.517G>A r.(?) p.(Ala173Thr) - likely benign g.19156428C>T - TWIST1(NM_000474.3):c.517G>A (p.(Ala173Thr)) - TWIST1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.545G>A r.(?) p.(Arg182Gln) - VUS g.19156400C>T - TWIST1(NM_000474.4):c.545G>A (p.R182Q) - TWIST1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.586T>A r.(?) p.Trp196Arg ACMG VUS g.19156359A>T g.19116736A>T - - TWIST1_000047 - - - - Germline - - - - - Andreas Laner
-?/. - c.*42+11C>T r.(=) p.(=) - likely benign g.19156283G>A g.19116660G>A TWIST1(NM_000474.3):c.*42+11C>T - TWIST1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*43-17_*43-16del r.(=) p.(=) - likely benign g.19155780_19155781del g.19116157_19116158del TWIST1(NM_000474.4):c.*43-17_*43-16delCC - TWIST1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*43-16del r.(=) p.(=) - likely benign g.19155781del g.19116158del TWIST1(NM_000474.4):c.*43-16delC - TWIST1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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