Full data view for gene EIF4G1

Information The variants shown are described using the NM_182917.4 transcript reference sequence.

137 entries on 2 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.-35+8A>T r.(=) p.(=) Unknown - likely benign g.184033341A>T g.184315553A>T EIF4G1(NM_182917.4):c.-35+8A>T - EIF4G1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35+12G>A r.(=) p.(=) Unknown - likely benign g.184033345G>A g.184315557G>A EIF4G1(NM_182917.4):c.-35+12G>A - EIF4G1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35+13T>A r.(=) p.(=) Unknown - likely benign g.184033346T>A g.184315558T>A EIF4G1(NM_182917.4):c.-35+13T>A - EIF4G1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.28C>T r.(?) p.(Pro10Ser) Unknown - VUS g.184033612C>T g.184315824C>T EIF4G1(NM_182917.4):c.28C>T (p.P10S) - EIF4G1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.31_32dup r.(?) p.(Pro12HisfsTer31) Unknown - benign g.184033615_184033616dup g.184315827_184315828dup EIF4G1(NM_182917.4):c.31_32dupCC (p.P12Hfs*31) - EIF4G1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32dup r.(?) p.(Pro12ThrfsTer43) Unknown - likely benign g.184033616dup g.184315828dup EIF4G1(NM_001194946.1):c.32dup (p.(Pro12ThrfsTer50)), EIF4G1(NM_182917.4):c.32dupC (p.P12Tfs*43) - EIF4G1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32dup r.(?) p.(Pro12ThrfsTer43) Unknown - VUS g.184033616dup - EIF4G1(NM_001194946.1):c.32dup (p.(Pro12ThrfsTer50)), EIF4G1(NM_182917.4):c.32dupC (p.P12Tfs*43) - EIF4G1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.33A>C r.(?) p.(Pro11=) Unknown - benign g.184033617A>C g.184315829A>C EIF4G1(NM_182917.4):c.33A>C (p.P11=) - EIF4G1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36C>T r.(?) p.(Pro12=) Unknown - likely benign g.184033620C>T g.184315832C>T EIF4G1(NM_182917.4):c.36C>T (p.P12=) - EIF4G1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>C r.(?) p.(Ala13Pro) Unknown - VUS g.184033621G>C g.184315833G>C EIF4G1(NM_001194946.1):c.37G>C (p.(Ala13Pro)), EIF4G1(NM_182917.4):c.37G>C (p.A13P) - EIF4G1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>C r.(?) p.(Ala13Pro) Unknown - likely benign g.184033621G>C g.184315833G>C EIF4G1(NM_001194946.1):c.37G>C (p.(Ala13Pro)), EIF4G1(NM_182917.4):c.37G>C (p.A13P) - EIF4G1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42A>C r.(?) p.(Pro14=) Unknown - likely benign g.184033626A>C - EIF4G1(NM_182917.4):c.42A>C (p.P14=) - EIF4G1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42_43del r.(?) p.(Ser15ProfsTer39) Unknown - likely benign g.184033626_184033627del g.184315838_184315839del EIF4G1(NM_001194946.1):c.42_43del (p.(Ser15ProfsTer46)) - EIF4G1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43T>C r.(?) p.(Ser15Pro) Unknown - VUS g.184033627T>C g.184315839T>C EIF4G1(NM_182917.4):c.43T>C (p.S15P) - EIF4G1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.43T>C r.(?) p.(Ser15Pro) Unknown - likely benign g.184033627T>C g.184315839T>C EIF4G1(NM_182917.4):c.43T>C (p.S15P) - EIF4G1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43T>C r.(?) p.(Ser15Pro) Unknown - likely benign g.184033627T>C g.184315839T>C EIF4G1(NM_182917.4):c.43T>C (p.S15P) - EIF4G1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49_51del r.(?) p.(Gly17del) Unknown - likely benign g.184033633_184033635del g.184315845_184315847del EIF4G1(NM_001194946.1):c.49_51del (p.(Gly17del)), EIF4G1(NM_198241.2):c.49_51delGGA (p.G17del) - EIF4G1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.49_51del r.(?) p.(Gly17del) Unknown - VUS g.184033633_184033635del g.184315845_184315847del EIF4G1(NM_001194946.1):c.49_51del (p.(Gly17del)), EIF4G1(NM_198241.2):c.49_51delGGA (p.G17del) - EIF4G1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53T>C r.(?) p.(Leu18Pro) Unknown - likely benign g.184033637T>C g.184315849T>C EIF4G1(NM_001194946.1):c.53T>C (p.(Leu18Pro)) - EIF4G1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147+11G>A r.(=) p.(=) Unknown - likely benign g.184034017G>A g.184316229G>A EIF4G1(NM_182917.4):c.147+11G>A - EIF4G1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.147+507T>G r.(=) p.(=) Unknown - VUS g.184034513T>G g.184316725T>G EIF4G1(NM_001194946.1):c.160T>G (p.S54A) - EIF4G1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.194G>A r.(?) p.(Arg65Gln) Unknown - VUS g.184035155G>A g.184317367G>A EIF4G1(NM_182917.4):c.194G>A (p.R65Q) - EIF4G1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424+7A>G r.(=) p.(=) Unknown - likely benign g.184035611A>G g.184317823A>G EIF4G1(NM_182917.4):c.424+7A>G - EIF4G1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425-10C>G r.(=) p.(=) Unknown - likely benign g.184037467C>G g.184319679C>G EIF4G1(NM_182917.4):c.425-10C>G - EIF4G1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481= r.(=) p.(Ala161=) Unknown - benign g.184037533A>G g.184319745A>G EIF4G1(NM_001194946.1):c.502A>G (p.T168A), EIF4G1(NM_182917.4):c.481A>G (p.T161A) - EIF4G1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.481= r.(=) p.(Ala161=) Unknown - benign g.184037533A>G g.184319745A>G EIF4G1(NM_001194946.1):c.502A>G (p.T168A), EIF4G1(NM_182917.4):c.481A>G (p.T161A) - EIF4G1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.481= r.(=) p.(Ala161=) Unknown - benign g.184037533A>G g.184319745A>G EIF4G1(NM_001194946.1):c.502A>G (p.T168A), EIF4G1(NM_182917.4):c.481A>G (p.T161A) - EIF4G1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.632C>T r.(?) p.(Thr211Met) Unknown - likely benign g.184038716C>T g.184320928C>T EIF4G1(NM_182917.4):c.632C>T (p.T211M) - EIF4G1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.648G>C r.(?) p.(Glu216Asp) Unknown - VUS g.184038732G>C g.184320944G>C EIF4G1(NM_001194946.1):c.669G>C (p.E223D) - EIF4G1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.654A>G r.(?) p.(Gln218=) Unknown - likely benign g.184038738A>G g.184320950A>G EIF4G1(NM_182917.4):c.654A>G (p.Q218=) - EIF4G1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.697+11C>A r.(=) p.(=) Unknown - likely benign g.184038792C>A g.184321004C>A EIF4G1(NM_182917.4):c.697+11C>A - EIF4G1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698-9A>G r.(=) p.(=) Unknown - likely benign g.184039061A>G g.184321273A>G EIF4G1(NM_182917.4):c.698-9A>G - EIF4G1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.717A>G r.(?) p.(Ala239=) Unknown - likely benign g.184039089A>G g.184321301A>G EIF4G1(NM_182917.4):c.717A>G (p.A239=) - EIF4G1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.791C>T r.(?) p.(Pro264Leu) Unknown - VUS g.184039163C>T g.184321375C>T EIF4G1(NM_182917.4):c.791C>T (p.P264L) - EIF4G1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Pro274Leu) Unknown - VUS g.184039193C>T g.184321405C>T EIF4G1(NM_001194946.1):c.842C>T (p.P281L) - EIF4G1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849C>G r.(?) p.(Leu283=) Unknown - likely benign g.184039221C>G g.184321433C>G EIF4G1(NM_182917.4):c.849C>G (p.L283=) - EIF4G1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849C>G r.(?) p.(Leu283=) Unknown - likely benign g.184039221C>G - EIF4G1(NM_182917.4):c.849C>G (p.L283=) - EIF4G1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865A>G r.(?) p.(Thr289Ala) Unknown - likely benign g.184039237A>G g.184321449A>G EIF4G1(NM_182917.4):c.865A>G (p.T289A) - EIF4G1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.913C>T r.(?) p.(Arg305Cys) Unknown - likely benign g.184039285C>T g.184321497C>T EIF4G1(NM_182917.4):c.913C>T (p.R305C) - EIF4G1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.932A>G r.(?) p.(Tyr311Cys) Unknown - benign g.184039304A>G g.184321516A>G EIF4G1(NM_182917.4):c.932A>G (p.Y311C) - EIF4G1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.960C>T r.(?) p.(Leu320=) Unknown - likely benign g.184039332C>T g.184321544C>T EIF4G1(NM_182917.4):c.960C>T (p.L320=) - EIF4G1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1001C>A r.(?) p.(Pro334Gln) Unknown - VUS g.184039373C>A g.184321585C>A EIF4G1(NM_182917.4):c.1001C>A (p.P334Q) - EIF4G1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111G>C r.(?) p.(Glu371Gln) Unknown - VUS g.184039483G>C - EIF4G1(NM_182917.4):c.1111G>C (p.E371Q) - EIF4G1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219G>A r.(?) p.(Ala407Thr) Unknown - VUS g.184039591G>A g.184321803G>A - - EIF4G1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1294A>G r.(?) p.(Met432Val) Unknown - benign g.184039666A>G g.184321878A>G EIF4G1(NM_001194946.1):c.1315A>G (p.M439V), EIF4G1(NM_182917.4):c.1294A>G (p.M432V) - EIF4G1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1294A>G r.(?) p.(Met432Val) Unknown - benign g.184039666A>G g.184321878A>G EIF4G1(NM_001194946.1):c.1315A>G (p.M439V), EIF4G1(NM_182917.4):c.1294A>G (p.M432V) - EIF4G1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1294A>G r.(?) p.(Met432Val) Unknown - benign g.184039666A>G g.184321878A>G EIF4G1(NM_001194946.1):c.1315A>G (p.M439V), EIF4G1(NM_182917.4):c.1294A>G (p.M432V) - EIF4G1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1298C>T r.(?) p.(Ala433Val) Unknown - likely benign g.184039670C>T g.184321882C>T EIF4G1(NM_001194946.1):c.1319C>T (p.A440V) - EIF4G1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1413_1421del r.(?) p.(Gly472_Ala474del) Unknown - benign g.184039785_184039793del g.184321997_184322005del EIF4G1(NM_001194946.1):c.1434_1442delAGGAGAAGC (p.G479_A481del), EIF4G1(NM_182917.4):c.1413_1421delAGGAGAAGC (p.G472_A474del) - EIF4G1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1413_1421del r.(?) p.(Gly472_Ala474del) Unknown - benign g.184039785_184039793del g.184321997_184322005del EIF4G1(NM_001194946.1):c.1434_1442delAGGAGAAGC (p.G479_A481del), EIF4G1(NM_182917.4):c.1413_1421delAGGAGAAGC (p.G472_A474del) - EIF4G1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1456C>T r.(?) p.(Pro486Ser) Unknown - VUS g.184039828C>T g.184322040C>T EIF4G1(NM_182917.4):c.1456C>T (p.P486S) - EIF4G1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1471A>T r.(?) p.(Ile491Phe) Unknown - likely benign g.184039843A>T g.184322055A>T EIF4G1(NM_182917.4):c.1471A>T (p.I491F) - EIF4G1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1548G>A r.(?) p.(Arg516=) Unknown - likely benign g.184040178G>A g.184322390G>A EIF4G1(NM_182917.4):c.1548G>A (p.R516=) - EIF4G1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1648G>C r.(?) p.(Ala550Pro) Unknown - likely benign g.184040371G>C g.184322583G>C EIF4G1(NM_182917.4):c.1648G>C (p.A550P) - EIF4G1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1648G>C r.(?) p.(Ala550Pro) Unknown - likely benign g.184040371G>C g.184322583G>C EIF4G1(NM_182917.4):c.1648G>C (p.A550P) - EIF4G1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1767C>T r.(?) p.(Pro589=) Unknown - likely benign g.184040490C>T g.184322702C>T EIF4G1(NM_182917.4):c.1767C>T (p.P589=) - EIF4G1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1795+9A>G r.(=) p.(=) Unknown - likely benign g.184040527A>G g.184322739A>G EIF4G1(NM_182917.4):c.1795+9A>G - EIF4G1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1796-3C>T r.spl? p.? Unknown - likely benign g.184040606C>T g.184322818C>T EIF4G1(NM_182917.4):c.1796-3C>T - EIF4G1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1796-3C>T r.spl? p.? Unknown - likely benign g.184040606C>T g.184322818C>T EIF4G1(NM_182917.4):c.1796-3C>T - EIF4G1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1836C>T r.(?) p.(Tyr612=) Unknown - likely benign g.184040649C>T - EIF4G1(NM_182917.4):c.1836C>T (p.Y612=) - EIF4G1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1929+19G>A r.(=) p.(=) Unknown - likely benign g.184040761G>A g.184322973G>A EIF4G1(NM_182917.4):c.1929+19G>A - EIF4G1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2152G>C r.(?) p.(Ala718Pro) Unknown - likely benign g.184041256G>C g.184323468G>C EIF4G1(NM_182917.4):c.2152G>C (p.A718P) - EIF4G1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2152G>C r.(?) p.(Ala718Pro) Unknown - likely benign g.184041256G>C g.184323468G>C EIF4G1(NM_182917.4):c.2152G>C (p.A718P) - EIF4G1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2224A>G r.(?) p.(Thr742Ala) Unknown - likely benign g.184041328A>G - EIF4G1(NM_182917.4):c.2224A>G (p.T742A) - EIF4G1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2373C>T r.(?) p.(Thr791=) Unknown - likely benign g.184041663C>T g.184323875C>T EIF4G1(NM_182917.4):c.2373C>T (p.T791=) - EIF4G1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2386A>C r.(?) p.(Lys796Gln) Unknown - likely benign g.184041676A>C g.184323888A>C EIF4G1(NM_182917.4):c.2386A>C (p.K796Q) - EIF4G1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2419A>G r.(?) p.(Ile807Val) Unknown - likely benign g.184041709A>G g.184323921A>G EIF4G1(NM_182917.4):c.2419A>G (p.I807V) - EIF4G1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2473G>A r.(?) p.(Ala825Thr) Unknown - VUS g.184041763G>A g.184323975G>A EIF4G1(NM_182917.4):c.2473G>A (p.A825T) - EIF4G1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2476-18A>G r.(=) p.(=) Unknown - likely benign g.184041971A>G g.184324183A>G EIF4G1(NM_182917.4):c.2476-18A>G - EIF4G1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2496A>G r.(?) p.(Glu832=) Unknown - likely benign g.184042009A>G g.184324221A>G EIF4G1(NM_182917.4):c.2496A>G (p.E832=) - EIF4G1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2577_2579del r.(?) p.(Asp859del) Unknown - VUS g.184042090_184042092del g.184324302_184324304del EIF4G1(NM_182917.4):c.2577_2579delTGA (p.D859del) - EIF4G1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2612A>C r.(?) p.(Glu871Ala) Unknown - likely benign g.184042125A>C g.184324337A>C EIF4G1(NM_182917.4):c.2612A>C (p.E871A) - EIF4G1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2633G>A r.(?) p.(Arg878Gln) Unknown - VUS g.184042676G>A g.184324888G>A EIF4G1(NM_182917.4):c.2633G>A (p.R878Q) - EIF4G1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2638C>T r.(?) p.(Arg880Cys) Unknown - VUS g.184042681C>T g.184324893C>T EIF4G1(NM_182917.4):c.2638C>T (p.R880C) - EIF4G1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2965-15C>T r.(=) p.(=) Unknown - likely benign g.184043253C>T g.184325465C>T EIF4G1(NM_182917.4):c.2965-15C>T - EIF4G1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2965-3C>T r.spl? p.? Unknown - likely benign g.184043265C>T g.184325477C>T EIF4G1(NM_182917.4):c.2965-3C>T - EIF4G1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2979A>G r.(?) p.(Pro993=) Unknown - likely benign g.184043282A>G g.184325494A>G EIF4G1(NM_001194946.1):c.2997A>G (p.P999=), EIF4G1(NM_182917.4):c.2979A>G (p.P993=) - EIF4G1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2979A>G r.(?) p.(Pro993=) Unknown - likely benign g.184043282A>G g.184325494A>G EIF4G1(NM_001194946.1):c.2997A>G (p.P999=), EIF4G1(NM_182917.4):c.2979A>G (p.P993=) - EIF4G1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2982C>T r.(?) p.(Arg994=) Unknown - likely benign g.184043285C>T g.184325497C>T EIF4G1(NM_182917.4):c.2982C>T (p.R994=) - EIF4G1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2982C>T r.(?) p.(Arg994=) Unknown - likely benign g.184043285C>T g.184325497C>T EIF4G1(NM_182917.4):c.2982C>T (p.R994=) - EIF4G1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3125-3C>T r.spl? p.? Unknown - likely benign g.184043636C>T g.184325848C>T EIF4G1(NM_182917.4):c.3125-3C>T - EIF4G1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3226-5_3226-3del r.spl? p.? Unknown - likely benign g.184044310_184044312del g.184326522_184326524del EIF4G1(NM_182917.4):c.3226-5_3226-3delTTC - EIF4G1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3328+16C>T r.(=) p.(=) Unknown - benign g.184044433C>T g.184326645C>T EIF4G1(NM_001194946.1):c.3346+16C>T, EIF4G1(NM_182917.4):c.3328+16C>T - EIF4G1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3328+16C>T r.(=) p.(=) Unknown - benign g.184044433C>T g.184326645C>T EIF4G1(NM_001194946.1):c.3346+16C>T, EIF4G1(NM_182917.4):c.3328+16C>T - EIF4G1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3328+16C>T r.(=) p.(=) Unknown - benign g.184044433C>T g.184326645C>T EIF4G1(NM_001194946.1):c.3346+16C>T, EIF4G1(NM_182917.4):c.3328+16C>T - EIF4G1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3419G>C r.(?) p.(Arg1140Pro) Unknown - VUS g.184044759G>C g.184326971G>C EIF4G1(NM_182917.4):c.3419G>C (p.R1140P) - EIF4G1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3424G>A r.(?) p.(Val1142Met) Unknown - likely benign g.184044764G>A g.184326976G>A EIF4G1(NM_182917.4):c.3424G>A (p.V1142M) - EIF4G1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3500G>A r.(?) p.(Arg1167Gln) Unknown - likely benign g.184045072G>A g.184327284G>A EIF4G1(NM_182917.4):c.3500G>A (p.R1167Q) - EIF4G1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3511C>T r.(?) p.(Arg1171Cys) Unknown - VUS g.184045083C>T g.184327295C>T EIF4G1(NM_182917.4):c.3511C>T (p.R1171C) - EIF4G1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3650G>A r.(?) p.(Arg1217His) Unknown - benign g.184045222G>A g.184327434G>A EIF4G1(NM_182917.4):c.3650G>A (p.R1217H) - EIF4G1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3688C>G r.(?) p.(Pro1230Ala) Unknown - likely benign g.184045397C>G g.184327609C>G EIF4G1(NM_001194946.1):c.3706C>G (p.P1236A), EIF4G1(NM_182917.4):c.3688C>G (p.P1230A) - EIF4G1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3688C>G r.(?) p.(Pro1230Ala) Unknown - likely benign g.184045397C>G g.184327609C>G EIF4G1(NM_001194946.1):c.3706C>G (p.P1236A), EIF4G1(NM_182917.4):c.3688C>G (p.P1230A) - EIF4G1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3701T>C r.(?) p.(Leu1234Pro) Unknown - benign g.184045410T>C g.184327622T>C EIF4G1(NM_001194946.1):c.3719T>C (p.L1240P), EIF4G1(NM_182917.4):c.3701T>C (p.L1234P) - EIF4G1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3701T>C r.(?) p.(Leu1234Pro) Unknown - benign g.184045410T>C g.184327622T>C EIF4G1(NM_001194946.1):c.3719T>C (p.L1240P), EIF4G1(NM_182917.4):c.3701T>C (p.L1234P) - EIF4G1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3742A>G r.(?) p.(Lys1248Glu) Unknown - VUS g.184045451A>G g.184327663A>G EIF4G1(NM_182917.4):c.3742A>G (p.K1248E) - EIF4G1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3773A>G r.(?) p.(Asn1258Ser) Unknown - VUS g.184045482A>G g.184327694A>G EIF4G1(NM_182917.4):c.3773A>G (p.N1258S) - EIF4G1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3827T>A r.(?) p.(Leu1276His) Unknown - likely benign g.184045661T>A - EIF4G1(NM_198241.2):c.3824T>A (p.L1275H) - EIF4G1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3871A>C r.(?) p.(Ser1291Arg) Unknown - VUS g.184045705A>C g.184327917A>C EIF4G1(NM_001194946.1):c.3889A>C (p.S1297R) - EIF4G1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3876C>T r.(?) p.(Ala1292=) Unknown - likely benign g.184045710C>T g.184327922C>T EIF4G1(NM_182917.4):c.3876C>T (p.A1292=) - EIF4G1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3876C>T r.(?) p.(Ala1292=) Unknown - likely benign g.184045710C>T g.184327922C>T EIF4G1(NM_182917.4):c.3876C>T (p.A1292=) - EIF4G1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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