Full data view for gene TRIOBP

Information The variants shown are described using the NM_001039141.2 transcript reference sequence.

255 entries on 3 pages. Showing entries 1 - 100.
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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.-261C>T r.(?) p.(=) Unknown - likely benign g.38093005C>T g.37696998C>T - - TRIOBP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14C>G r.(?) p.(=) Unknown - benign g.38097359C>G g.37701352C>G - - TRIOBP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96C>T r.(?) p.(Ala32=) Unknown - likely benign g.38097468C>T g.37701461C>T TRIOBP(NM_001039141.2):c.96C>T (p.A32=) - TRIOBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.114G>C r.(?) p.(Gln38His) Unknown - VUS g.38097486G>C g.37701479G>C TRIOBP(NM_001039141.2):c.114G>C (p.Q38H) - TRIOBP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.154G>A r.(?) p.(Asp52Asn) Parent #1 - pathogenic g.38106473G>A g.37710466G>A - - TRIOBP_000139 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.202A>G r.(?) p.(Thr68Ala) Parent #1 - VUS g.38106521A>G g.37710514A>G - - TRIOBP_000140 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.202A>T r.(?) p.(Thr68Ser) Parent #1 - VUS g.38106521A>T g.37710514A>T - - TRIOBP_000141 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.265C>G r.(?) p.(Pro89Ala) Unknown - likely benign g.38109227C>G g.37713220C>G TRIOBP(NM_001039141.2):c.265C>G (p.P89A) - TRIOBP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(Arg107Trp) Unknown - VUS g.38109281C>T g.37713274C>T TRIOBP(NM_001039141.2):c.319C>T (p.R107W) - TRIOBP_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320G>A r.(?) p.(Arg107Gln) Unknown - likely benign g.38109282G>A g.37713275G>A TRIOBP(NM_001039141.2):c.320G>A (p.R107Q) - TRIOBP_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340T>C r.(?) p.(Tyr114His) Unknown - likely benign g.38109302T>C - TRIOBP(NM_001039141.3):c.340T>C (p.(Tyr114His)) - TRIOBP_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.365T>C r.(?) p.(Leu122Ser) Unknown - likely benign g.38109327T>C g.37713320T>C - - TRIOBP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>A r.(?) p.(Gly131Ser) Unknown - likely benign g.38109353G>A g.37713346G>A TRIOBP(NM_001039141.2):c.391G>A (p.G131S) - TRIOBP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Ser136=) Unknown - likely benign g.38109370C>T g.37713363C>T TRIOBP(NM_001039141.2):c.408C>T (p.S136=) - TRIOBP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 6 c.477G>T r.(?) p.(Arg159Ser) Parent #1 - likely benign g.38111790G>T g.37715783G>T - - TRIOBP_000142 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 6 c.483G>A r.(=) p.(=) Parent #1 - likely benign g.38111796G>A g.37715789G>A - - TRIOBP_000143 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.497G>C r.(?) p.(Ser166Thr) Unknown - likely benign g.38111810G>C g.37715803G>C TRIOBP(NM_001039141.2):c.497G>C (p.S166T) - TRIOBP_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584C>T r.(?) p.(Thr195Ile) Unknown - likely benign g.38111897C>T g.37715890C>T TRIOBP(NM_001039141.2):c.584C>T (p.T195I) - TRIOBP_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.584C>T r.(?) p.(Thr195Ile) Parent #1 - benign g.38111897C>T g.37715890C>T - - TRIOBP_000088 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.634G>A r.(?) p.(Gly212Ser) Unknown - likely benign g.38119197G>A g.37723190G>A TRIOBP(NM_001039141.2):c.634G>A (p.G212S) - TRIOBP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.650G>A r.(?) p.(Ser217Asn) Unknown - benign g.38119213G>A g.37723206G>A - - TRIOBP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651C>T r.(?) p.(Ser217=) Unknown - benign g.38119214C>T g.37723207C>T TRIOBP(NM_001039141.2):c.651C>T (p.S217=) - TRIOBP_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - VUS g.38119240G>A g.37723233G>A TRIOBP(NM_001039141.2):c.677G>A (p.R226Q) - TRIOBP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709C>T r.(?) p.(Arg237Trp) Unknown - likely benign g.38119272C>T g.37723265C>T TRIOBP(NM_001039141.2):c.709C>T (p.R237W) - TRIOBP_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815C>A r.(?) p.(Thr272Lys) Unknown - VUS g.38119378C>A g.37723371C>A TRIOBP(NM_001039141.2):c.815C>A (p.T272K) - TRIOBP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.889C>T r.(?) p.(Gln297*) Parent #1 - pathogenic g.38119452C>T g.37723445C>T - - TRIOBP_000144 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7 c.1039C>T r.(?) p.(Arg347*) Parent #1 - pathogenic g.38119602C>T g.37723595C>T - - TRIOBP_000145 - MORL Deafness Variation Database, PubMed: Shahin 2006, PubMed: Shearer 1993, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shahin 2006, PubMed: Shearer 1993, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.1090C>T r.(?) p.(Pro364Ser) Unknown - VUS g.38119653C>T g.37723646C>T - - TRIOBP_000003 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.1132C>T r.(?) p.(Pro378Ser) Unknown - VUS g.38119695C>T g.37723688C>T TRIOBP(NM_001039141.2):c.1132C>T (p.P378S) - TRIOBP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132C>T r.(?) p.(Pro378Ser) Unknown - likely benign g.38119695C>T - TRIOBP(NM_001039141.2):c.1132C>T (p.P378S) - TRIOBP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1193_1195del r.(?) p.(Gln398del) Unknown - benign g.38119756_38119758del g.37723749_37723751del TRIOBP(NM_001039141.2):c.1193_1195delAAC (p.Q398del) - TRIOBP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1226G>A r.(?) p.(Arg409Gln) Unknown - benign g.38119789G>A g.37723782G>A TRIOBP(NM_001039141.2):c.1226G>A (p.R409Q) - TRIOBP_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323C>T r.(?) p.(Ser441=) Unknown - likely benign g.38119886C>T g.37723879C>T TRIOBP(NM_001039141.2):c.1323C>T (p.S441=) - TRIOBP_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1331G>A r.(?) p.(Ser444Asn) Unknown - benign g.38119894G>A g.37723887G>A TRIOBP(NM_001039141.3):c.1331G>A (p.S444N) - TRIOBP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1339A>G r.(?) p.(Thr447Ala) Unknown - likely benign g.38119902A>G g.37723895A>G TRIOBP(NM_001039141.2):c.1339A>G (p.T447A) - TRIOBP_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393_1401del r.(?) p.(Arg465_Ser467del) Unknown - VUS g.38119956_38119964del g.37723949_37723957del TRIOBP(NM_001039141.2):c.1393_1401delAGAACCTCC (p.R465_S467del) - TRIOBP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1409A>G r.(?) p.(Asn470Ser) Unknown - likely benign g.38119972A>G g.37723965A>G TRIOBP(NM_001039141.2):c.1409A>G (p.N470S) - TRIOBP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416C>T r.(?) p.(Ala472=) Unknown - likely benign g.38119979C>T g.37723972C>T TRIOBP(NM_001039141.2):c.1416C>T (p.A472=) - TRIOBP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433G>C r.(?) p.(Arg478Thr) Unknown - VUS g.38119996G>C g.37723989G>C TRIOBP(NM_001039141.2):c.1433G>C (p.R478T) - TRIOBP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1478G>A r.(?) p.(Ser493Asn) Unknown - benign g.38120041G>A g.37724034G>A TRIOBP(NM_001039141.2):c.1478G>A (p.S493N), TRIOBP(NM_001039141.3):c.1478G>A (p.S493N) - TRIOBP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1478G>A r.(?) p.(Ser493Asn) Unknown - benign g.38120041G>A g.37724034G>A TRIOBP(NM_001039141.2):c.1478G>A (p.S493N), TRIOBP(NM_001039141.3):c.1478G>A (p.S493N) - TRIOBP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1480A>G r.(?) p.(Arg494Gly) Unknown - VUS g.38120043A>G - TRIOBP(NM_001039141.2):c.1480A>G (p.R494G) - TRIOBP_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7 c.1494C>G r.(?) p.(Asp498Glu) Parent #1 - likely benign g.38120057C>G g.37724050C>G C1494G - TRIOBP_000001 - - - - Germline ? - - - - DNA SEQ-NG-I - - ? - - - - ? Korea, South (Republic) - - - - - 1 Byung Yoon Choi
?/. - c.1517A>T r.(?) p.(Gln506Leu) Unknown - VUS g.38120080A>T g.37724073A>T TRIOBP(NM_001039141.2):c.1517A>T (p.Q506L) - TRIOBP_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1553C>A r.(?) p.(Pro518His) Unknown - VUS g.38120116C>A g.37724109C>A TRIOBP(NM_001039141.2):c.1553C>A (p.P518H) - TRIOBP_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1567C>T r.(?) p.(Arg523*) Unknown - pathogenic g.38120130C>T - - - TRIOBP_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1589G>A r.(?) p.(Cys530Tyr) Parent #1 - VUS g.38120152G>A - - - TRIOBP_000206 - PubMed: Chen 2015 - - Germline - - - - - DNA SEQ - - HL KLX13 PubMed: Chen 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China Uyghur - - - - 1 Johan den Dunnen
-/. - c.1591G>A r.(?) p.(Ala531Thr) Unknown - benign g.38120154G>A g.37724147G>A TRIOBP(NM_001039141.2):c.1591G>A (p.A531T) - TRIOBP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1591G>C r.(?) p.(Ala531Pro) Unknown - likely benign g.38120154G>C g.37724147G>C TRIOBP(NM_001039141.2):c.1591G>C (p.A531P) - TRIOBP_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1613C>T r.(?) p.(Ala538Val) Unknown - likely benign g.38120176C>T - TRIOBP(NM_001039141.2):c.1613C>T (p.A538V) - TRIOBP_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1681G>A r.(?) p.(Ala561Thr) Unknown - VUS g.38120244G>A g.37724237G>A TRIOBP(NM_001039141.2):c.1681G>A (p.A561T) - TRIOBP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1690A>G r.(?) p.(Thr564Ala) Unknown - likely benign g.38120253A>G g.37724246A>G TRIOBP(NM_001039141.2):c.1690A>G (p.T564A) - TRIOBP_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1741C>T r.(?) p.(Gln581*) Parent #1 - pathogenic g.38120304C>T g.37724297C>T - - TRIOBP_000146 - MORL Deafness Variation Database, PubMed: Shahin 2006, PubMed: Shearer 1993, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shahin 2006, PubMed: Shearer 1993, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1772A>G r.(?) p.(Asn591Ser) Unknown - likely benign g.38120335A>G g.37724328A>G TRIOBP(NM_001039141.2):c.1772A>G (p.N591S) - TRIOBP_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1861C>T r.(?) p.(Arg621Ter) Unknown - pathogenic g.38120424C>T g.37724417C>T - - TRIOBP_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903A>G r.(?) p.(Arg635Gly) Unknown - VUS g.38120466A>G - TRIOBP(NM_001039141.2):c.1903A>G (p.R635G) - TRIOBP_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1915C>T r.(?) p.(Pro639Ser) Unknown - VUS g.38120478C>T - - - TRIOBP_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1916C>G r.(?) p.(Pro639Arg) Unknown - VUS g.38120479C>G g.37724472C>G TRIOBP(NM_001039141.2):c.1916C>G (p.P639R) - TRIOBP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1928C>T r.(?) p.(Thr643Ile) Unknown - likely benign g.38120491C>T g.37724484C>T TRIOBP(NM_001039141.2):c.1928C>T (p.T643I) - TRIOBP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1932A>G r.(?) p.(Gln644=) Unknown - likely benign g.38120495A>G g.37724488A>G TRIOBP(NM_001039141.2):c.1932A>G (p.Q644=) - TRIOBP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1934A>G r.(?) p.(Gln645Arg) Unknown - likely benign g.38120497A>G g.37724490A>G TRIOBP(NM_001039141.2):c.1934A>G (p.Q645R) - TRIOBP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1940G>A r.(?) p.(Ser647Asn) Unknown - likely benign g.38120503G>A g.37724496G>A TRIOBP(NM_001039141.2):c.1940G>A (p.S647N) - TRIOBP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1961G>A r.(?) p.(Arg654Gln) Unknown - benign g.38120524G>A g.37724517G>A TRIOBP(NM_001039141.2):c.1961G>A (p.R654Q) - TRIOBP_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1964G>A r.(?) p.(Arg655Gln) Unknown - likely benign g.38120527G>A g.37724520G>A TRIOBP(NM_001039141.2):c.1964G>A (p.R655Q) - TRIOBP_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2090G>T r.(?) p.(Arg697Ile) Unknown - VUS g.38120653G>T - TRIOBP(NM_001039141.2):c.2090G>T (p.R697I) - TRIOBP_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2105A>G r.(?) p.(Gln702Arg) Unknown - likely benign g.38120668A>G g.37724661A>G TRIOBP(NM_001039141.2):c.2105A>G (p.Q702R) - TRIOBP_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2149C>G r.(?) p.(Gln717Glu) Unknown - likely benign g.38120712C>G g.37724705C>G TRIOBP(NM_001039141.2):c.2149C>G (p.Q717E) - TRIOBP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2177G>A r.(?) p.(Arg726Gln) Unknown - likely benign g.38120740G>A g.37724733G>A TRIOBP(NM_001039141.2):c.2177G>A (p.R726Q) - TRIOBP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2178A>G r.(?) p.(Arg726=) Unknown - likely benign g.38120741A>G g.37724734A>G TRIOBP(NM_001039141.2):c.2178A>G (p.R726=) - TRIOBP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2201C>T r.(?) p.(Ser734Phe) Unknown - VUS g.38120764C>T g.37724757C>T TRIOBP(NM_001039141.2):c.2201C>T (p.S734F) - TRIOBP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2234G>A r.(?) p.(Arg745Lys) Unknown - likely benign g.38120797G>A g.37724790G>A TRIOBP(NM_001039141.2):c.2234G>A (p.R745K) - TRIOBP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2320C>T r.(?) p.(Arg774*) Both (homozygous) ACMG likely pathogenic g.38120883C>T g.37724876C>T - - TRIOBP_000009 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DFNB28 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/+ 7 c.2355_2356del r.(?) p.(Arg785Serfs*50) Parent #1 - pathogenic g.38120918_38120919del g.37724911_37724912del - - TRIOBP_000147 - MORL Deafness Variation Database, PubMed: Diaz-Horta 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Diaz-Horta 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2362C>T r.(?) p.(Arg788Ter) Unknown - pathogenic g.38120925C>T g.37724918C>T TRIOBP(NM_001039141.2):c.2362C>T (p.R788*) - TRIOBP_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.2362C>T r.(?) p.(Arg788*) Parent #1 - pathogenic g.38120925C>T g.37724918C>T - - TRIOBP_000104 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2454T>C r.(?) p.(Cys818=) Unknown - likely benign g.38121017T>C - TRIOBP(NM_001039141.2):c.2454T>C (p.C818=) - TRIOBP_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2477C>T r.(?) p.(Ser826Leu) Unknown - benign g.38121040C>T g.37725033C>T - - TRIOBP_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2516C>G r.(?) p.(Thr839Ser) Unknown - likely benign g.38121079C>G g.37725072C>G TRIOBP(NM_001039141.2):c.2516C>G (p.T839S) - TRIOBP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2521C>T r.(?) p.(Arg841*) Unknown - pathogenic g.38121084C>T - TRIOBP(NM_001039141.2):c.2521C>T (p.R841*) - TRIOBP_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2521C>T r.(?) p.(Arg841*) Unknown - pathogenic g.38121084C>T - TRIOBP(NM_001039141.2):c.2521C>T (p.R841*) - TRIOBP_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.2559del r.(?) p.(Thr854Hisfs*25) Unknown - VUS g.38121122del g.37725115del - - TRIOBP_000002 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - 1 Danielle Bosch
-/. - c.2589C>A r.(?) p.(Asn863Lys) Unknown - benign g.38121152C>A - - - TRIOBP_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2619C>T r.(?) p.(Thr873=) Unknown - likely benign g.38121182C>T - TRIOBP(NM_001039141.2):c.2619C>T (p.T873=) - TRIOBP_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2653del r.(?) p.(Arg885Alafs*120) Parent #1 - likely pathogenic g.38121216del g.37725209del - - TRIOBP_000010 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
-?/. - c.2664A>G r.(?) p.(Gln888=) Unknown - likely benign g.38121227A>G g.37725220A>G TRIOBP(NM_001039141.2):c.2664A>G (p.Q888=) - TRIOBP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2924G>A r.(?) p.(Arg975Gln) Unknown - likely benign g.38121487G>A g.37725480G>A TRIOBP(NM_001039141.2):c.2924G>A (p.R975Q) - TRIOBP_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2942A>G r.(?) p.(His981Arg) Unknown - likely benign g.38121505A>G g.37725498A>G TRIOBP(NM_001039141.2):c.2942A>G (p.H981R) - TRIOBP_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2968C>T r.(?) p.(Arg990Ter) Unknown - likely pathogenic g.38121531C>T g.37725524C>T TRIOBP(NM_001039141.2):c.2968C>T (p.R990*) - TRIOBP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2968C>T r.(?) p.(Arg990Ter) Both (homozygous) - pathogenic (recessive) g.38121531C>T g.37725524C>T - - TRIOBP_000044 - PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-26 PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+/+ 7 c.2988C>A r.(?) p.(Tyr996*) Parent #1 - pathogenic g.38121551C>A g.37725544C>A - - TRIOBP_000148 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2991C>T r.(?) p.(Pro997=) Unknown - likely benign g.38121554C>T - TRIOBP(NM_001039141.2):c.2991C>T (p.P997=) - TRIOBP_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2992G>A r.(?) p.(Ala998Thr) Unknown - likely benign g.38121555G>A g.37725548G>A TRIOBP(NM_001039141.2):c.2992G>A (p.A998T) - TRIOBP_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.3055G>A r.(?) p.(Gly1019Arg) Parent #1 - pathogenic g.38121618G>A g.37725611G>A - - TRIOBP_000149 - MORL Deafness Variation Database, PubMed: Shahin 2006 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shahin 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3073C>T r.(?) p.(Arg1025*) Unknown - likely pathogenic g.38121636C>T - - - TRIOBP_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3089C>G r.(?) p.(Pro1030Arg) Unknown - VUS g.38121652C>G g.37725645C>G TRIOBP(NM_001039141.2):c.3089C>G (p.P1030R) - TRIOBP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.3202C>T r.(?) p.(Arg1068*) Parent #1 - pathogenic g.38121765C>T g.37725758C>T - - TRIOBP_000150 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Riazuddin 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7 c.3202_3203del r.(?) p.(Asp1069Cysfs*14) Parent #1 - pathogenic g.38121765_38121766del g.37725758_37725759del - - TRIOBP_000151 - MORL Deafness Variation Database, PubMed: Riazuddin 2006 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Riazuddin 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3206A>C r.(?) p.(Asp1069Ala) Unknown - VUS g.38121769A>C - - - TRIOBP_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3232C>T r.(?) p.(Arg1078Cys) Parent #1 - likely benign g.38121795C>T g.37725788C>T - - TRIOBP_000184 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200359708 Germline - 2/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.3232C>T r.(?) p.(Arg1078Cys) Unknown - VUS g.38121795C>T - TRIOBP(NM_001039141.2):c.3232C>T (p.R1078C) - TRIOBP_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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