Unique variants in gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. 1 - c.-50G>A r.(=) p.(=) g.6048700C>T - PMS2_000026 - - - - - - - Despoina Kalfakakou
-/- 1 - c.-33C>T r.(=) p.(=) g.6048683G>A - PMS2_000067 rs562800874 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-4A>G r.(=) p.(=) g.6048654T>C - PMS2_000041 rs544503598 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-2C>T r.(=) p.(=) g.6048652G>A - PMS2_000094 rs876658209 - Germline - - - - Despoina Kalfakakou
+/+ 1 15 c.(?) r.(?) p.(?) g.(?_6012870)_(6013174_6017218)del - PMS2_000111 - 1 more item Germline - PMS2 exon 15 deletion - - Despoina Kalfakakou
-?/-? 4 - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.23+31C>T r.(=) p.(=) g.6048597G>A - PMS2_000054 rs371201653 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.23+36C>T r.(=) p.(=) g.6048592G>A - PMS2_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.24-28A>C r.(=) p.(=) g.6045690T>G - PMS2_000105 rs2881029 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.53T>C r.(?) p.(Ile18Thr) g.6045633A>G - PMS2_000019 rs201343342 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.89A>C r.(?) p.(Gln30Pro) g.6045597T>G - PMS2_000053 rs1802682 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.113C>T r.(?) p.(Ala38Val) g.6045573G>A - PMS2_000059 rs148270248 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.117A>G r.(=) p.(=) g.6045569T>C - PMS2_000058 rs34839707 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.146C>G r.(?) p.(Ala49Gly) g.6045540G>C - PMS2_000096 rs786203255 - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.163+1G>T r.spl? p.? g.6045522C>A - PMS2_000095 rs1064795705 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.163+35A>C r.(=) p.(=) g.6045488T>G - PMS2_000057 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.164-22G>A r.(=) p.(=) g.6043711C>T - PMS2_000075 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.178G>A r.(?) p.(Asp60Asn) g.6043675C>T - PMS2_000093 rs587782176 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.241G>A r.(?) p.(Glu81Lys) g.6043612C>T - PMS2_000056 rs730881919 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.244G>A r.(?) p.(Gly82Ser) g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - Despoina Kalfakakou
?/? 9 - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.251-31A>T r.(=) p.(=) g.6043454T>A - PMS2_000068 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.255G>A r.(=) p.(=) g.6043419C>T - PMS2_000085 rs200491279 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.287C>T r.(?) p.(Ala96Val) g.6043387G>A - PMS2_000052 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
?/? 24 - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? 56 - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.383C>T r.(?) p.(Ser128Leu) g.6042238G>A - PMS2_000050 rs116373169 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.475G>A r.(?) p.(Val159Met) g.6042146C>T - PMS2_000010 rs142416537 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.477G>A r.(=) p.(=) g.6042144C>T - PMS2_000084 rs147701251 - Germline - - - - Despoina Kalfakakou
?/? 22 - c.478C>A r.(?) p.(Gln160Lys) g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou
?/? 21 - c.492C>T r.(=) p.(=) g.6042129G>A - PMS2_000033 rs35311046 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.495A>G r.(=) p.(=) g.6042126T>C - PMS2_000049 rs1057520513 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.537+41T>C r.(=) p.(=) g.6042043A>G - PMS2_000082 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.538-42_538-41insATTCCTATAATA r.(=) p.(=) g.6038947_6038948insTATTATAGGAAT - PMS2_000066 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.538-29A>G r.(=) p.(=) g.6038935T>C - PMS2_000009 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.620G>A r.(?) p.(Gly207Glu) g.6038824C>T - PMS2_000072 rs374704824 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.673G>A r.(?) p.(Glu225Lys) g.6038771C>T - PMS2_000069 rs1562677770 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.705+51C>T r.(=) p.(=) g.6038688G>A - PMS2_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.765C>T r.(=) p.(=) g.6036995G>A - PMS2_000092 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.803+45C>A r.(=) p.(=) g.6036912G>T - PMS2_000032 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.804-49A>G r.(=) p.(=) g.6035313T>C - PMS2_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.804-40C>T r.(=) p.(=) g.6035304G>A - PMS2_000070 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.811G>A r.(?) p.(Gly271Ser) g.6035257C>T - PMS2_000065 rs1583364895 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.831G>A r.(=) p.(=) g.6035237C>T - PMS2_000086 rs116481522 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.857A>G r.(?) p.(Asp286Gly) g.6035211T>C - PMS2_000076 rs116788608 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.861_864del r.(?) p.(Arg287Serfs*19) g.6035204_6035207del - PMS2_000064  rs267608154 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.916G>A r.(?) p.(Val306Met) g.6031676C>T - PMS2_000080 rs587780063 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.953A>G r.(?) p.(Tyr318Cys) g.6031639T>C - PMS2_000025 rs139438201 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.988+11T>C r.(=) p.(=) g.6031593A>G - PMS2_000102 rs139969671 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.993C>T r.(=) p.(=) g.6029582G>A - PMS2_000031 rs186577215 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1111A>C r.(?) p.(Asn371His) g.6029464T>G - PMS2_000071 - - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.1261C>T r.(?) p.(Arg421*) g.6027135G>A - PMS2_000048 rs587778617 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.1358T>C r.(?) p.(Met453Thr) g.6027038A>G - PMS2_000107 rs1060503130 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.1414A>T r.(?) p.(Lys472*) g.6026982T>A - PMS2_000101 rs1562633172 - Germline ? - - - Despoina Kalfakakou
-?/-? 24 - c.1437C>G r.(?) p.(His479Gln) g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1438G>A r.(?) p.(Gly480Arg) g.6026958C>T - PMS2_000104 rs146848345 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1482G>A r.(=) p.(=) g.6026914C>T - PMS2_000073 rs864622398 - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.1490G>A r.(?) p.(Gly497Asp) g.6026906C>T - PMS2_000030 rs199739859 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1557T>C r.(=) p.(=) g.6026839A>G - PMS2_000081 rs6972869 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1560G>A r.(=) p.(=) g.6026836C>T - PMS2_000090 rs201167814 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.1567T>A r.(?) p.(Ser523Thr) g.6026829A>T - PMS2_000029 rs63751132 - Germline - - - - Despoina Kalfakakou
-?/-? 18 - c.1569C>G r.(=) p.(=) g.6026827G>C - PMS2_000024 rs141458772 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1579_1580del r.(?) p.(Arg527Glyfs*14) g.6026816_6026817del - PMS2_000109 rs1064793234 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1609G>A r.(?) p.(Glu537Lys) g.6026787C>T - PMS2_000042 rs115052399 - Germline - - - - Despoina Kalfakakou
-?/-? 53 - c.1688G>T r.(?) p.(Arg563Leu) g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.1711C>A r.(?) p.(Leu571Ile) g.6026685G>T - PMS2_000047 rs63750055 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1714G>A r.(?) p.(Ala572Thr) g.6026682C>T - PMS2_000005 rs63751023 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1717A>T r.(?) p.(Thr573Ser) g.6026679T>A - PMS2_000079 rs63751211 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.1795G>A r.(?) p.(Asp599Asn) g.6026601C>T - PMS2_000063 rs1380574195 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1798A>G r.(?) p.(Met600Val) g.6026598T>C - PMS2_000062 rs1304634005 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1855G>T r.(?) p.(Asp619Tyr) g.6026541C>A - PMS2_000028 rs1179605136 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1876G>A r.(?) p.(Ala626Thr) g.6026520C>T - PMS2_000089 rs587779331 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1980C>T r.(=) p.(=) g.6026416G>A - PMS2_000078 rs368928783 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1999G>A r.(?) p.(Glu667Lys) g.6026397C>T - PMS2_000106 rs587780045 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2006+20C>G r.(=) p.(=) g.6026370G>C - PMS2_000045 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2006+32T>C r.(=) p.(=) g.6026358A>G - PMS2_000027 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2007-33A>G r.(=) p.(=) g.6022655T>C - PMS2_000074 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.2007-16C>T r.(=) p.(=) g.6022638G>A - PMS2_000083 rs587781111 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.2012C>T r.(?) p.(Thr671Met) g.6022617G>A - PMS2_000004 rs587780046 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2055A>G r.(=) p.(=) g.6022574T>C - PMS2_000044 rs786202005 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.2068A>C r.(?) p.(Lys690Gln) g.6022561T>G - PMS2_000003 rs587781909 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.2148C>T r.(=) p.(=) g.6022481G>A - PMS2_000015 rs748404138 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.2149G>A r.(?) p.(Val717Met) g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2182A>G r.(?) p.(Thr728Ala) g.6018320T>C - PMS2_000023 rs141893001 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.2186_2187del r.(?) p.(Leu729Glnfs*6) g.6018315_6018316del - PMS2_000022 rs587779335 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.2253T>C r.(=) p.(=) g.6018249A>G - PMS2_000021 rs1805325 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2265C>T r.(=) p.(=) g.6018237G>A - PMS2_000077 rs145646046 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2266G>A r.(?) p.(Asp756Asn) g.6018236C>T - PMS2_000046 rs762206330 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2272A>C r.(?) p.(Asn758His) g.6018230T>G - PMS2_000091 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2275+26G>A r.(=) p.(=) g.6018201C>T - PMS2_000099 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2275+42T>C r.(=) p.(=) g.6018185A>G - PMS2_000061 rs181380255 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2325C>G r.(?) p.(Asn775Lys) g.6017339G>C - PMS2_000087 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2344G>A r.(?) p.(Asp782Asn) g.6017320C>T - PMS2_000098 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2347G>A r.(?) p.(Val783Ile) g.6017317C>T - PMS2_000088 rs553286217 - Germline - - - - Despoina Kalfakakou
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