Unique variants in the KCNJ10 gene

Information The variants shown are described using the NM_002241.4 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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 1i c.-1+1G>T r.spl? p.? - likely pathogenic g.160039811C>A g.160070021C>A - - KCNJ10_000038 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.32A>G r.(?) p.(Gln11Arg) - VUS g.160012291T>C - KCNJ10(NM_002241.4):c.32A>G (p.Q11R) - KCNJ10_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.53G>A r.(?) p.(Arg18Gln) - likely benign g.160012270C>T g.160042480C>T KCNJ10(NM_002241.4):c.53G>A (p.R18Q) - KCNJ10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 2 c.76C>T r.(?) p.(Arg26*) - likely pathogenic g.160012247G>A g.160042457G>A - - KCNJ10_000037 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.148C>T r.(?) p.(Leu50Phe) - VUS g.160012175G>A g.160042385G>A KCNJ10(NM_002241.4):c.148C>T (p.(Leu50Phe)) - KCNJ10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 2 c.168G>A r.(?) p.(Trp56Ter) - likely pathogenic g.160012155C>T g.160042365C>T - - KCNJ10_000045 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/+, +/. 2 2 c.170C>T r.(?) p.(Thr57Ile) ACMG pathogenic g.160012153G>A g.160042363G>A - - KCNJ10_000001 - MORL Deafness Variation Database, PubMed: Scholl 2012, PubMed: Trujillano 2017 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Daniel Trujillano
+/+ 1 2 c.193C>T r.(?) p.(Arg65Cys) - pathogenic g.160012130G>A g.160042340G>A - - KCNJ10_000036 - MORL Deafness Variation Database, PubMed: Freudenthal 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.194G>C r.(?) p.(Arg65Pro) - pathogenic g.160012129C>G g.160042339C>G - - KCNJ10_000035 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.203T>C r.(?) p.(Leu68Pro) - pathogenic g.160012120A>G g.160042330A>G - - KCNJ10_000034 - MORL Deafness Variation Database, PubMed: Lemke 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.208C>T r.(?) p.(Leu70Phe) - VUS g.160012115G>A g.160042325G>A KCNJ10(NM_002241.4):c.208C>T (p.L70F) - KCNJ10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.219G>A r.(?) p.(Ala73=) - likely benign g.160012104C>T - KCNJ10(NM_002241.4):c.219G>A (p.A73=) - KCNJ10_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 2 c.221C>T r.(?) p.(Thr74Ile) - likely pathogenic g.160012102G>A g.160042312G>A - - KCNJ10_000033 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.224T>G r.(?) p.(Phe75Cys) - pathogenic g.160012099A>C g.160042309A>C - - KCNJ10_000032 - MORL Deafness Variation Database, PubMed: Parrock 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.225T>G r.(?) p.(Phe75Leu) - pathogenic g.160012098A>C g.160042308A>C - - KCNJ10_000031 - MORL Deafness Variation Database, PubMed: Freudenthal 2011, PubMed: Cross 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.229G>C r.(?) p.(Gly77Arg) - pathogenic g.160012094C>G g.160042304C>G - - KCNJ10_000030 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 2 c.230_231delinsAA r.(?) p.(Gly77Glu) - VUS g.160012092_160012093delinsTT g.160042302_160042303delinsTT - - KCNJ10_000044 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.234A>G r.(?) p.(Thr78=) - likely benign g.160012089T>C g.160042299T>C KCNJ10(NM_002241.4):c.234A>G (p.T78=) - KCNJ10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.249C>T r.(?) p.(Gly83=) - likely benign g.160012074G>A g.160042284G>A KCNJ10(NM_002241.4):c.249C>T (p.G83=) - KCNJ10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.250G>A r.(?) p.(Val84Met) - pathogenic g.160012073C>T g.160042283C>T - - KCNJ10_000029 - MORL Deafness Variation Database, PubMed: Sicca 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.272del r.(?) p.(Val91Glyfs*107) - pathogenic g.160012051del g.160042261del - - KCNJ10_000028 - MORL Deafness Variation Database, PubMed: Parrock 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 2 - c.300C>A r.(?) p.(Asp100Glu) - likely benign g.160012023G>T g.160042233G>T KCNJ10(NM_002241.4):c.300C>A (p.D100E) - KCNJ10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 1 2 c.385A>G r.(?) p.(Ile129Val) - pathogenic g.160011938T>C g.160042148T>C - - KCNJ10_000027 - MORL Deafness Variation Database, PubMed: Lemke 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.401G>A r.(?) p.(Arg134His) - VUS g.160011922C>T g.160042132C>T KCNJ10(NM_002241.4):c.401G>A (p.R134H) - KCNJ10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.418T>C r.(?) p.(Cys140Arg) - pathogenic g.160011905A>G g.160042115A>G - - KCNJ10_000026 - MORL Deafness Variation Database, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.491C>T r.(?) p.(Thr164Ile) - pathogenic g.160011832G>A g.160042042G>A - - KCNJ10_000025 - MORL Deafness Variation Database, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.500C>T r.(?) p.(Ala167Val) - pathogenic g.160011823G>A g.160042033G>A - - KCNJ10_000024 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.524G>A r.(?) p.(Arg175Gln) - pathogenic g.160011799C>T g.160042009C>T - - KCNJ10_000023 - MORL Deafness Variation Database, PubMed: Reichold 2010 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.539G>A r.(?) p.(Arg180His) - VUS g.160011784C>T g.160041994C>T KCNJ10(NM_002241.4):c.539G>A (p.(Arg180His)) - KCNJ10_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 2 c.581C>A r.(?) p.(Pro194His) - pathogenic g.160011742G>T g.160041952G>T - - KCNJ10_000022 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.595C>T r.(?) p.(Arg199*) - pathogenic g.160011728G>A g.160041938G>A - - KCNJ10_000021 - MORL Deafness Variation Database, PubMed: Reichold 2010, PubMed: Scholl 2009, PubMed: Cross 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.611G>A r.(?) p.(Arg204His) - pathogenic g.160011712C>T g.160041922C>T - - KCNJ10_000020 - MORL Deafness Variation Database, PubMed: Kara 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.652C>T r.(?) p.(Leu218Phe) - VUS g.160011671G>A - KCNJ10(NM_002241.4):c.652C>T (p.L218F) - KCNJ10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.705T>C r.(?) p.(Asn235=) - likely benign g.160011618A>G - KCNJ10(NM_002241.4):c.705T>C (p.N235=) - KCNJ10_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.735C>G r.(?) p.(Asp245Glu) - likely benign g.160011588G>C - KCNJ10(NM_002241.4):c.735C>G (p.D245E) - KCNJ10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.775del r.(?) p.(Val259*) - pathogenic g.160011549del g.160041759del - - KCNJ10_000019 - MORL Deafness Variation Database, PubMed: Freudenthal 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 2 - c.811C>T r.(?) p.(Arg271Cys) - benign g.160011512G>A g.160041722G>A KCNJ10(NM_002241.4):c.811C>T (p.R271C) - KCNJ10_000006 74 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs1130183 CLASSIFICATION record, Germline - 74/2794 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.846C>A r.(?) p.(Ile282=) - likely benign g.160011477G>T g.160041687G>T KCNJ10(NM_002241.4):c.846C>A (p.I282=) - KCNJ10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.889C>T r.(?) p.(Arg297Cys) - pathogenic g.160011434G>A g.160041644G>A - - KCNJ10_000018 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, ?/. 2 2 c.1042C>T r.(?) p.(Arg348Cys) - pathogenic, VUS g.160011281G>A g.160041491G>A - - KCNJ10_000017 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009, 1 more item - rs137853074 Germline, SUMMARY record - 1/2794 individuals - - - Global Variome, with Curator vacancy, Mohammed Faruq
+?/+?, ?/. 3 2 c.1043G>A r.(?) p.(Arg348His) - likely pathogenic, VUS g.160011280C>T g.160041490C>T KCNJ10(NM_002241.4):c.1043G>A (p.R348H) - KCNJ10_000004 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Proverbio 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1092A>G r.(?) p.(Gln364=) - likely benign g.160011231T>C g.160041441T>C KCNJ10(NM_002241.4):c.1092A>G (p.Q364=) - KCNJ10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1137C>G r.(?) p.(Val379=) - likely benign g.160011186G>C g.160041396G>C KCNJ10(NM_002241.4):c.1137C>G (p.V379=) - KCNJ10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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