All variants in the P2RX2 gene

Information The variants shown are described using the NM_012226.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.5C>T r.(?) p.(Ala2Val) - likely benign g.133195407C>T g.132618821C>T P2RX2(NM_001282165.1):c.5C>T (p.A2V) - POLE_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 c.110G>T r.(?) p.(Arg37Met) - pathogenic g.133196029G>T g.132619443G>T - - P2RX2_000005 - MORL Deafness Variation Database, PubMed: Yan 2013, PubMed: Blanton 2002 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-/. - c.118C>T r.(?) p.(Arg40Cys) - benign g.133196037C>T g.132619451C>T - - P2RX2_000007 62 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75585377 Germline - 62/2795 individuals - 0 - Mohammed Faruq
-?/. - c.143G>A r.(?) p.(Arg48Gln) - likely benign g.133196062G>A g.132619476G>A P2RX2(NM_001282165.1):c.211G>A (p.E71K) - P2RX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.241+109G>T r.(=) p.(=) - VUS g.133196269G>T g.132619683G>T - - POLE_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.241+158C>G r.(=) p.(=) - likely benign g.133196318C>G - P2RX2(NM_001282165.1):c.363C>G (p.T121=) - POLE_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.241+163del r.(=) p.(=) - VUS g.133196323del - P2RX2(NM_001282165.1):c.368delG (p.G123Efs*7) - POLE_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.242-112C>A r.(=) p.(=) - VUS g.133196474C>A - P2RX2(NM_001282165.1):c.426C>A (p.C142*) - POLE_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.275A>G r.(?) p.(Gln92Arg) - likely benign g.133196619A>G g.132620033A>G P2RX2(NM_001282165.1):c.491A>G (p.Q164R) - P2RX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.457C>G r.(?) p.(Arg153Gly) - VUS g.133197068C>G - P2RX2(NM_001282165.1):c.673C>G (p.R225G) - POLE_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.483C>T r.(?) p.(Asp161=) - benign g.133197094C>T g.132620508C>T P2RX2(NM_001282164.1):c.592C>T (p.P198S) - POLE_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.492C>T r.(?) p.(Cys164=) - VUS g.133197103C>T g.132620517C>T P2RX2(NM_001282164.1):c.601C>T (p.P201S) - POLE_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.546G>A r.(?) p.(Glu182=) - likely benign g.133197157G>A g.132620571G>A P2RX2(NM_001282164.1):c.655G>A (p.A219T) - POLE_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.605T>C r.(?) p.(Leu202Pro) - likely benign g.133197633T>C g.132621047T>C - - POLE_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.615G>A r.(?) p.(Ser205=) - likely benign g.133197643G>A g.132621057G>A P2RX2(NM_001282165.1):c.831G>A (p.S277=) - POLE_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.619T>C r.(?) p.(Cys207Arg) - likely pathogenic g.133197647T>C g.132621061T>C - - P2RX2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.671C>T r.(?) p.(Ser224Leu) - likely benign g.133197699C>T - P2RX2(NM_001282165.1):c.887C>T (p.S296L) - POLE_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.689G>C r.(?) p.(Arg230Thr) - VUS g.133197717G>C g.132621131G>C P2RX2(NM_001282165.1):c.905G>C (p.R302T) - POLE_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.748G>A r.(?) p.(Gly250Arg) - VUS g.133197899G>A g.132621313G>A P2RX2(NM_001282165.1):c.964G>A (p.G322R) - POLE_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.784G>A r.(?) p.(Gly262Arg) - VUS g.133198064G>A - P2RX2(NM_001282165.1):c.1019G>A (p.R340Q) - POLE_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.837C>T r.(?) p.(Ser279=) - likely benign g.133198117C>T - P2RX2(NM_170683.3):c.1053C>T (p.S351=) - POLE_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.841G>A r.(?) p.(Gly281Arg) - VUS g.133198121G>A g.132621535G>A - - POLE_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 8 c.841G>C r.(?) p.(Gly281Arg) - pathogenic g.133198121G>C g.132621535G>C - - P2RX2_000006 - MORL Deafness Variation Database, PubMed: Faletra 2014 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - c.861C>T r.(?) p.(Cys287=) - likely benign g.133198219C>T g.132621633C>T P2RX2(NM_170683.3):c.1155C>T (p.C385=) - POLE_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.935C>T r.(?) p.(Pro312Leu) - VUS g.133198293C>T - P2RX2(NM_170683.3):c.1229C>T (p.P410L) - POLE_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.985C>T r.(?) p.(Gln329Ter) - likely benign g.133198343C>T g.132621757C>T - - P2RX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1094G>A r.(?) p.(Arg365Gln) - VUS g.133198452G>A g.132621866G>A P2RX2(NM_170683.3):c.1388G>A (p.R463Q) - P2RX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1116T>A r.(?) p.(Pro372=) - benign g.133198474T>A g.132621888T>A P2RX2(NM_170683.3):c.1410T>A (p.P470=) - POLE_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2766G>C r.(=) p.(=) - likely benign g.133201324G>C g.132624738G>C POLE(NM_006231.3):c.6820C>G (p.L2274V) - POLE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*2766G>C r.(=) p.(=) - likely benign g.133201324G>C g.132624738G>C POLE(NM_006231.3):c.6820C>G (p.L2274V) - POLE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*2769T>A r.(=) p.(=) - benign g.133201327T>A g.132624741T>A POLE(NM_006231.3):c.6817A>T (p.T2273S) - POLE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*2791G>A r.(=) p.(=) - likely benign g.133201349G>A g.132624763G>A POLE(NM_006231.3):c.6795C>T (p.Y2265=) - POLE_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*2819C>G r.(=) p.(=) - likely benign g.133201377C>G g.132624791C>G POLE(NM_006231.3):c.6767G>C (p.G2256A) - POLE_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*2823T>A r.(=) p.(=) - likely benign g.133201381T>A g.132624795T>A POLE(NM_006231.3):c.6763A>T (p.I2255F) - POLE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*2823T>A r.(=) p.(=) - likely benign g.133201381T>A g.132624795T>A POLE(NM_006231.3):c.6763A>T (p.I2255F) - POLE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*2823T>A r.(=) p.(=) - benign g.133201381T>A g.132624795T>A POLE(NM_006231.3):c.6763A>T (p.I2255F) - POLE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*2823T>A r.(=) p.(=) - likely benign g.133201381T>A g.132624795T>A POLE(NM_006231.3):c.6763A>T (p.I2255F) - POLE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*2922_*2925del r.(=) p.(=) - likely benign g.133201480_133201483del g.132624894_132624897del POLE(NM_006231.3):c.6747+11_6747+14delCCTC - POLE_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*2950G>A r.(=) p.(=) - likely benign g.133201508G>A g.132624922G>A POLE(NM_006231.3):c.6730C>T (p.L2244F) - POLE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*2966G>A r.(=) p.(=) - likely benign g.133201524G>A g.132624938G>A POLE(NM_006231.3):c.6714C>T (p.C2238=) - POLE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*2966G>A r.(=) p.(=) - likely benign g.133201524G>A g.132624938G>A POLE(NM_006231.3):c.6714C>T (p.C2238=) - POLE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2973C>T r.(=) p.(=) - likely benign g.133201531C>T - POLE(NM_006231.3):c.6707G>A (p.C2236Y) - POLE_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.*3005G>A r.(=) p.(=) - benign g.133201563G>A g.132624977G>A POLE(NM_006231.3):c.6675C>T (p.R2225=) - POLE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*3005G>A r.(=) p.(=) - likely benign g.133201563G>A g.132624977G>A POLE(NM_006231.3):c.6675C>T (p.R2225=) - POLE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*3005G>A r.(=) p.(=) - likely benign g.133201563G>A g.132624977G>A POLE(NM_006231.3):c.6675C>T (p.R2225=) - POLE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*3005G>A r.(=) p.(=) - likely benign g.133201563G>A - POLE(NM_006231.3):c.6675C>T (p.R2225=) - POLE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*3006C>T r.(=) p.(=) - likely benign g.133201564C>T g.132624978C>T POLE(NM_006231.3):c.6674G>A (p.R2225H) - POLE_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3021_*3036dup r.(=) p.(=) - VUS g.133201579_133201594dup g.132624993_132625008dup - - POLE_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*3029G>T r.(=) p.(=) - likely benign g.133201587G>T g.132625001G>T POLE(NM_006231.3):c.6658-7C>A - POLE_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*3040C>T r.(=) p.(=) - likely benign g.133201598C>T g.132625012C>T POLE(NM_006231.3):c.6658-18G>A - POLE_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*3657G>A r.(=) p.(=) - benign g.133202215G>A g.132625629G>A POLE(NM_006231.3):c.6657+16C>T - POLE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*3657G>A r.(=) p.(=) - benign g.133202215G>A g.132625629G>A POLE(NM_006231.3):c.6657+16C>T - POLE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*3791G>A r.(=) p.(=) - likely benign g.133202349G>A g.132625763G>A POLE(NM_006231.3):c.6539C>T (p.A2180V) - POLE_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.*3870G>A r.(=) p.(=) - benign g.133202428G>A g.132625842G>A - - POLE_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*4181G>A r.(=) p.(=) - likely benign g.133202739G>A g.132626153G>A POLE(NM_006231.3):c.6495C>T (p.R2165=) - POLE_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*4182C>T r.(=) p.(=) - benign g.133202740C>T g.132626154C>T POLE(NM_006231.3):c.6494G>A (p.R2165H) - POLE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*4182C>T r.(=) p.(=) - benign g.133202740C>T g.132626154C>T POLE(NM_006231.3):c.6494G>A (p.R2165H) - POLE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*4182C>T r.(=) p.(=) - benign g.133202740C>T g.132626154C>T POLE(NM_006231.3):c.6494G>A (p.R2165H) - POLE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4200C>T r.(=) p.(=) - likely benign g.133202758C>T g.132626172C>T POLE(NM_006231.3):c.6476G>A (p.R2159H) - POLE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*4223G>A r.(=) p.(=) - benign g.133202781G>A g.132626195G>A POLE(NM_006231.3):c.6453C>T (p.Y2151=) - POLE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*4223G>A r.(=) p.(=) - likely benign g.133202781G>A g.132626195G>A POLE(NM_006231.3):c.6453C>T (p.Y2151=) - POLE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.*4223G>A r.(=) p.(=) - likely benign g.133202781G>A g.132626195G>A POLE(NM_006231.3):c.6453C>T (p.Y2151=) - POLE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*4258C>T r.(=) p.(=) - benign g.133202816C>T g.132626230C>T POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K) - POLE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*4258C>T r.(=) p.(=) - benign g.133202816C>T g.132626230C>T POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K) - POLE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.*4258C>T r.(=) p.(=) - benign g.133202816C>T g.132626230C>T POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K) - POLE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*4258C>T r.(=) p.(=) - likely benign g.133202816C>T g.132626230C>T POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K) - POLE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*4258C>T r.(=) p.(=) - benign g.133202816C>T - POLE(NM_006231.2):c.6418G>A (p.(Glu2140Lys)), POLE(NM_006231.3):c.6418G>A (p.E2140K) - POLE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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