All variants in the LOXL3 gene

Information The variants shown are described using the NM_032603.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
-?/. - c.79C>G r.(?) p.(Pro27Ala) - likely benign g.74779683G>C g.74552556G>C LOXL3(NM_032603.4):c.79C>G (p.P27A), LOXL3(NM_032603.5):c.79C>G (p.P27A) - DOK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.79C>G r.(?) p.(Pro27Ala) - likely benign g.74779683G>C - LOXL3(NM_032603.4):c.79C>G (p.P27A), LOXL3(NM_032603.5):c.79C>G (p.P27A) - DOK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.87T>G r.(?) p.(Pro29=) - likely benign g.74779675A>C - LOXL3(NM_032603.4):c.87T>G (p.P29=) - DOK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.317G>T r.(?) p.(Arg106Leu) - benign g.74777472C>A - LOXL3(NM_032603.5):c.317G>T (p.R106L) - DOK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.336G>A r.(?) p.(Leu112=) - likely benign g.74777453C>T g.74550326C>T LOXL3(NM_032603.4):c.336G>A (p.L112=) - DOK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.405G>A r.(?) p.(Thr135=) - likely benign g.74777384C>T g.74550257C>T LOXL3(NM_032603.4):c.405G>A (p.T135=) - DOK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.861C>T r.(?) p.(Tyr287=) - likely benign g.74763887G>A g.74536760G>A LOXL3(NM_032603.4):c.861C>T (p.Y287=) - AUP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.916C>T r.(?) p.(Arg306Cys) - VUS g.74763595G>A - LOXL3(NM_032603.4):c.916C>T (p.R306C) - AUP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1037G>A r.(?) p.(Arg346Gln) - VUS g.74763474C>T - LOXL3(NM_032603.4):c.1037G>A (p.R346Q) - AUP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1124G>A r.(?) p.(Arg375His) - benign g.74763247C>T g.74536120C>T - - LOXL3_000004 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77706750 Germline - 32/2795 individuals - - - Mohammed Faruq
+?/. - c.1248+1G>A r.spl? p.? - likely pathogenic g.74763122C>T - LOXL3(NM_032603.5):c.1248+1G>A - AUP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1322G>A r.(?) p.(Arg441His) - VUS g.74762809C>T - LOXL3(NM_032603.4):c.1322G>A (p.R441H) - AUP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1329C>T r.(?) p.(Gly443=) - likely benign g.74762802G>A g.74535675G>A LOXL3(NM_032603.4):c.1329C>T (p.G443=) - LOXL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1330_1332del r.(?) p.(Leu444del) - likely pathogenic g.74762800_74762802del g.74535673_74535675del LOXL3, variant 1: c.1330_1332del/p.L444del, variant 2: c.1330_1332del/p.L444del - LOXL3_000005 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. - c.1330_1332del r.(?) p.(Leu444del) - likely pathogenic g.74762800_74762802del - LOXL3(NM_032603.5):c.1330_1332delCTC (p.L444del) - LOXL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 12 c.2027G>A r.(?) p.(Cys676Tyr) - likely pathogenic g.74761276C>T g.74534149C>T - - LOXL3_000003 - MORL Deafness Variation Database, PubMed: Alzahrani 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.2222T>A r.(?) p.(Phe741Tyr) - VUS g.74760773A>T - HTRA2(NM_001321727.1):c.*661A>T, LOXL3(NM_032603.4):c.2222T>A (p.F741Y) - AUP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2222T>A r.(?) p.(Phe741Tyr) - VUS g.74760773A>T - HTRA2(NM_001321727.1):c.*661A>T, LOXL3(NM_032603.4):c.2222T>A (p.F741Y) - AUP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*671G>A r.(=) p.(=) - VUS g.74760062C>T g.74532935C>T HTRA2(NM_013247.4):c.1327C>T (p.(Arg443Trp)) - AUP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*776G>A r.(=) p.(=) - VUS g.74759957C>T - HTRA2(NM_013247.4):c.1222C>T (p.R408W) - AUP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 12 c.*893G>A r.(=) p.(=) - pathogenic g.74759840C>T g.74532713C>T - - LOXL3_000002 - MORL Deafness Variation Database, PubMed: Bogaerts 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.*908C>T r.(=) p.(=) - VUS g.74759825G>A g.74532698G>A HTRA2(NM_013247.4):c.1195G>A (p.G399S), HTRA2(NM_013247.5):c.1195G>A (p.(Gly399Ser), p.G399S) - HTRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*908C>T r.(=) p.(=) - likely benign g.74759825G>A - HTRA2(NM_013247.4):c.1195G>A (p.G399S), HTRA2(NM_013247.5):c.1195G>A (p.(Gly399Ser), p.G399S) - HTRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*908C>T r.(=) p.(=) - likely benign g.74759825G>A - HTRA2(NM_013247.4):c.1195G>A (p.G399S), HTRA2(NM_013247.5):c.1195G>A (p.(Gly399Ser), p.G399S) - HTRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1672A>G r.(=) p.(=) - likely benign g.74759061T>C g.74531934T>C HTRA2(NM_013247.4):c.1115+9T>C - HTRA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2027C>T r.(=) p.(=) - likely benign g.74758706G>A g.74531579G>A HTRA2(NM_001321727.1):c.952G>A (p.G318R) - AUP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2522A>G r.(=) p.(=) - likely benign g.74758211T>C g.74531084T>C HTRA2(NM_013247.4):c.885T>C (p.I295=) - AUP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2869T>C r.(=) p.(=) - likely benign g.74757864A>G g.74530737A>G HTRA2(NM_013247.4):c.627A>G (p.R209=) - HTRA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3087_*3089del r.(=) p.(=) - VUS g.74757647_74757649del g.74530520_74530522del HTRA2(NM_013247.4):c.506+8_506+10delTGG - HTRA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*3179C>A r.(=) p.(=) - benign g.74757554G>T g.74530427G>T HTRA2(NM_013247.4):c.421G>T (p.A141S) - HTRA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3246C>T r.(=) p.(=) - likely benign g.74757487G>A g.74530360G>A HTRA2(NM_013247.4):c.354G>A (p.L118=), HTRA2(NM_013247.5):c.354G>A (p.L118=) - HTRA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3246C>T r.(=) p.(=) - likely benign g.74757487G>A - HTRA2(NM_013247.4):c.354G>A (p.L118=), HTRA2(NM_013247.5):c.354G>A (p.L118=) - HTRA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*3385A>G r.(=) p.(=) - likely benign g.74757348T>C g.74530221T>C HTRA2(NM_013247.4):c.215T>C (p.L72P) - HTRA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3422G>A r.(=) p.(=) - VUS g.74757311C>T g.74530184C>T HTRA2(NM_013247.4):c.178C>T (p.R60W) - AUP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3469G>C r.(=) p.(=) - VUS g.74757264C>G - HTRA2(NM_013247.4):c.131C>G (p.S44C) - AUP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3707G>T r.(=) p.(=) - VUS g.74757026C>A - HTRA2(NM_001321727.1):c.-108C>A - AUP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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