All variants in the RANBP2 gene

Information The variants shown are described using the NM_006267.4 transcript reference sequence.

157 entries on 2 pages. Showing entries 1 - 100.
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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.72+11C>G r.(=) p.(=) - benign g.109336145C>G g.108719689C>G RANBP2(NM_006267.4):c.72+11C>G - RANBP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.73-6T>A r.(=) p.(=) - likely benign g.109345582T>A g.108729126T>A RANBP2(NM_006267.4):c.73-6T>A - RANBP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.73-6T>A r.(=) p.(=) - likely benign g.109345582T>A g.108729126T>A RANBP2(NM_006267.4):c.73-6T>A - RANBP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.140+17A>G r.(=) p.(=) - likely benign g.109345672A>G g.108729216A>G RANBP2(NM_006267.4):c.140+17A>G - RANBP2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.225C>G r.(?) p.(Asn75Lys) - likely benign g.109347314C>G g.108730858C>G RANBP2(NM_006267.4):c.225C>G (p.N75K) - RANBP2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.229G>A r.(?) p.(Asp77Asn) - likely benign g.109347318G>A g.108730862G>A RANBP2(NM_006267.4):c.229G>A (p.(Asp77Asn)) - RANBP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.509G>A r.(?) p.(Arg170Gln) - VUS g.109352091G>A - RANBP2(NM_006267.4):c.509G>A (p.R170Q) - RANBP2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.560A>G r.(?) p.(His187Arg) - VUS g.109352142A>G g.108735686A>G RANBP2(NM_006267.4):c.560A>G (p.H187R) - RANBP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.593G>A r.(?) p.(Arg198His) - VUS g.109352175G>A - RANBP2(NM_006267.4):c.593G>A (p.R198H) - RANBP2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.728T>C r.(?) p.(Met243Thr) - likely benign g.109352651T>C - RANBP2(NM_006267.4):c.728T>C (p.M243T) - RANBP2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.783-6T>C r.(=) p.(=) - benign g.109356939T>C g.108740483T>C RANBP2(NM_006267.4):c.783-6T>C (, p.(=)) - RANBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.783-6T>C r.(=) p.(=) - likely benign g.109356939T>C g.108740483T>C RANBP2(NM_006267.4):c.783-6T>C (, p.(=)) - RANBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.783-6T>C r.(=) p.(=) - likely benign g.109356939T>C g.108740483T>C RANBP2(NM_006267.4):c.783-6T>C (, p.(=)) - RANBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.816G>C r.(?) p.(Leu272Phe) - likely benign g.109356978G>C g.108740522G>C RANBP2(NM_006267.4):c.816G>C (p.L272F) - RANBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1064-18_1064-14del r.(=) p.(=) - likely benign g.109365358_109365362del - RANBP2(NM_006267.4):c.1064-18_1064-14delCTTAA - RANBP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1064-11T>C r.(=) p.(=) - likely benign g.109365365T>C - RANBP2(NM_006267.4):c.1064-11T>C - RANBP2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1209C>T r.(?) p.(Ser403=) - benign g.109365521C>T g.108749065C>T RANBP2(NM_006267.4):c.1209C>T (p.S403=) - RANBP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1225A>G r.(?) p.(Ile409Val) - likely benign g.109365537A>G g.108749081A>G RANBP2(NM_006267.4):c.1225A>G (p.I409V) - RANBP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1274-14T>A r.(=) p.(=) - likely benign g.109367706T>A g.108751250T>A RANBP2(NM_006267.4):c.1274-14T>A - RANBP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1274-13A>T r.(=) p.(=) - likely benign g.109367707A>T - RANBP2(NM_006267.4):c.1274-13A>T - RANBP2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1284A>G r.(?) p.(Arg428=) - likely benign g.109367730A>G - RANBP2(NM_006267.4):c.1284A>G (p.R428=) - RANBP2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1398T>G r.(?) p.(His466Gln) - likely benign g.109367844T>G - RANBP2(NM_006267.4):c.1398T>G (p.H466Q) - RANBP2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1437A>G r.(?) p.(Ile479Met) - likely benign g.109367883A>G g.108751427A>G RANBP2(NM_006267.4):c.1437A>G (p.I479M) - RANBP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1456-7A>G r.(=) p.(=) - benign g.109367977A>G g.108751521A>G RANBP2(NM_006267.4):c.1456-7A>G - RANBP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1535C>T r.(?) p.(Pro512Leu) - VUS g.109368063C>T g.108751607C>T RANBP2(NM_006267.4):c.1535C>T (p.(Pro512Leu)) - RANBP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1543C>T r.(?) p.(Leu515=) - likely benign g.109368071C>T g.108751615C>T RANBP2(NM_006267.4):c.1543C>T (p.L515=) - RANBP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1632-16T>C r.(=) p.(=) - benign g.109368311T>C g.108751855T>C RANBP2(NM_006267.4):c.1632-16T>C - RANBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1754C>T r.(?) p.(Thr585Met) - pathogenic g.109368449C>T g.108751993C>T RANBP2(NM_006267.4):c.1754C>T (p.T585M) - RANBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1754C>T r.(?) p.(Thr585Met) - pathogenic g.109368449C>T - RANBP2(NM_006267.4):c.1754C>T (p.T585M) - RANBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1761C>T r.(?) p.(Ser587=) - likely benign g.109369459C>T g.108753003C>T RANBP2(NM_006267.4):c.1761C>T (p.S587=) - RANBP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1792T>C r.(?) p.(Tyr598His) - VUS g.109369490T>C g.108753034T>C RANBP2(NM_006267.4):c.1792T>C (p.(Tyr598His)) - RANBP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1920A>G r.(?) p.(Ala640=) - likely benign g.109369884A>G g.108753428A>G RANBP2(NM_006267.4):c.1920A>G (p.A640=) - RANBP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1957A>G r.(?) p.(Thr653Ala) - VUS g.109369921A>G g.108753465A>G RANBP2(NM_006267.4):c.1957A>G (p.T653A) - RANBP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1957A>G r.(?) p.(Thr653Ala) - likely benign g.109369921A>G g.108753465A>G RANBP2(NM_006267.4):c.1957A>G (p.T653A) - RANBP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1966A>G r.(?) p.(Ile656Val) - likely pathogenic g.109369930A>G g.108753474A>G RANBP2(NM_006267.4):c.1966A>G (p.I656V) - RANBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2040T>C r.(?) p.(Tyr680=) - likely benign g.109370004T>C g.108753548T>C RANBP2(NM_006267.4):c.2040T>C (p.Y680=) - RANBP2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2056-56C>A r.(=) p.(=) - benign g.109370225C>A g.108753769C>A RANBP2(NM_006267.4):c.2056-56C>A - RANBP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2056-19A>G r.(=) p.(=) - likely benign g.109370262A>G g.108753806A>G RANBP2(NM_006267.4):c.2056-19A>G - RANBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2056-10A>G r.(=) p.(=) - likely benign g.109370271A>G - RANBP2(NM_006267.4):c.2056-10A>G - RANBP2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2084A>C r.(?) p.(Glu695Ala) - likely benign g.109370309A>C g.108753853A>C RANBP2(NM_006267.4):c.2084A>C (p.E695A) - RANBP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2142C>T r.(?) p.(Thr714=) - likely benign g.109370367C>T g.108753911C>T RANBP2(NM_006267.4):c.2142C>T (p.T714=) - RANBP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2164A>T r.(?) p.(Ile722Leu) - likely benign g.109370389A>T - RANBP2(NM_006267.4):c.2164A>T (p.I722L) - RANBP2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2173A>G r.(?) p.(Ser725Gly) - benign g.109370398A>G g.108753942A>G RANBP2(NM_006267.4):c.2173A>G (p.S725G) - RANBP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2212C>T r.(?) p.(Pro738Ser) - likely benign g.109371370C>T g.108754914C>T RANBP2(NM_006267.4):c.2212C>T (p.P738S) - RANBP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2230G>C r.(?) p.(Glu744Gln) - VUS g.109371388G>C g.108754932G>C RANBP2(NM_006267.4):c.2230G>C (p.E744Q) - RANBP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2230G>C r.(?) p.(Glu744Gln) - likely benign g.109371388G>C g.108754932G>C RANBP2(NM_006267.4):c.2230G>C (p.E744Q) - RANBP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2243C>T r.(?) p.(Ser748Leu) - likely benign g.109371401C>T - RANBP2(NM_006267.4):c.2243C>T (p.S748L) - RANBP2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2330A>G r.(?) p.(His777Arg) - likely benign g.109371488A>G g.108755032A>G RANBP2(NM_006267.4):c.2330A>G (p.H777R) - RANBP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2339C>T r.(?) p.(Pro780Leu) - benign g.109371497C>T g.108755041C>T RANBP2(NM_006267.4):c.2339C>T (p.(Pro780Leu), p.P780L) - RANBP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2339C>T r.(?) p.(Pro780Leu) - likely benign g.109371497C>T g.108755041C>T RANBP2(NM_006267.4):c.2339C>T (p.(Pro780Leu), p.P780L) - RANBP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2340G>A r.(?) p.(Pro780=) - likely benign g.109371498G>A - RANBP2(NM_006267.4):c.2340G>A (p.P780=) - RANBP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2351G>A r.(?) p.(Arg784Lys) - likely benign g.109371509G>A g.108755053G>A RANBP2(NM_006267.4):c.2351G>A (p.(Arg784Lys), p.R784K) - RANBP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2351G>A r.(?) p.(Arg784Lys) - likely benign g.109371509G>A - RANBP2(NM_006267.4):c.2351G>A (p.(Arg784Lys), p.R784K) - RANBP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2383-26G>C r.(=) p.(=) - benign g.109371606G>C g.108755150G>C RANBP2(NM_006267.4):c.2383-26G>C - RANBP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2570G>C r.(?) p.(Gly857Ala) - VUS g.109374972G>C g.108758516G>C RANBP2(NM_006267.4):c.2570G>C (p.G857A) - RANBP2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2603-7T>G r.(=) p.(=) - likely benign g.109378550T>G g.108762094T>G RANBP2(NM_006267.4):c.2603-7T>G (p.(=)) - RANBP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2625A>G r.(?) p.(Val875=) - likely benign g.109378579A>G - RANBP2(NM_006267.4):c.2625A>G (p.V875=) - RANBP2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2794T>C r.(?) p.(Cys932Arg) - VUS g.109379789T>C - - - RANBP2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2894A>G r.(?) p.(Asn965Ser) - VUS g.109379889A>G - RANBP2(NM_006267.4):c.2894A>G (p.N965S) - RANBP2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2955G>A r.(?) p.(Pro985=) - benign g.109379950G>A g.108763494G>A RANBP2(NM_006267.4):c.2955G>A (p.P985=) - RANBP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2982A>T r.(?) p.(Ala994=) - likely benign g.109379977A>T g.108763521A>T RANBP2(NM_006267.4):c.2982A>T (p.A994=) - RANBP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2982A>T r.(?) p.(Ala994=) - likely benign g.109379977A>T g.108763521A>T RANBP2(NM_006267.4):c.2982A>T (p.A994=) - RANBP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2992A>G r.(?) p.(Thr998Ala) - likely benign g.109379987A>G - RANBP2(NM_006267.4):c.2992A>G (p.T998A) - RANBP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2997A>G r.(?) p.(Ile999Met) - likely benign g.109379992A>G g.108763536A>G RANBP2(NM_006267.4):c.2997A>G (p.I999M) - RANBP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3134C>T r.(?) p.(Thr1045Met) - VUS g.109380129C>T - RANBP2(NM_006267.4):c.3134C>T (p.T1045M) - RANBP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3162G>T r.(?) p.(Gln1054His) - likely benign g.109380157G>T g.108763701G>T RANBP2(NM_006267.4):c.3162G>T (p.Q1054H) - RANBP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3162G>T r.(?) p.(Gln1054His) - likely benign g.109380157G>T g.108763701G>T RANBP2(NM_006267.4):c.3162G>T (p.Q1054H) - RANBP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3163C>T r.(?) p.(Pro1055Ser) - likely benign g.109380158C>T g.108763702C>T RANBP2(NM_006267.4):c.3163C>T (p.P1055S) - RANBP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3163C>T r.(?) p.(Pro1055Ser) - likely benign g.109380158C>T g.108763702C>T RANBP2(NM_006267.4):c.3163C>T (p.P1055S) - RANBP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3226T>G r.(?) p.(Leu1076Val) - likely benign g.109380221T>G g.108763765T>G RANBP2(NM_006267.4):c.3226T>G (p.L1076V) - RANBP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3240C>T r.(?) p.(Gly1080=) - likely benign g.109380235C>T - RANBP2(NM_006267.4):c.3240C>T (p.G1080=) - RANBP2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3253A>C r.(?) p.(Lys1085Gln) - likely benign g.109380248A>C g.108763792A>C RANBP2(NM_006267.4):c.3253A>C (p.K1085Q) - RANBP2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3350C>T r.(?) p.(Ser1117Leu) - likely benign g.109380345C>T g.108763889C>T RANBP2(NM_006267.4):c.3350C>T (p.S1117L) - RANBP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3350C>T r.(?) p.(Ser1117Leu) - likely benign g.109380345C>T g.108763889C>T RANBP2(NM_006267.4):c.3350C>T (p.S1117L) - RANBP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3363G>T r.(?) p.(Lys1121Asn) - likely benign g.109380358G>T g.108763902G>T RANBP2(NM_006267.4):c.3363G>T (p.K1121N) - RANBP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3380G>A r.(?) p.(Arg1127Gln) - VUS g.109380375G>A - RANBP2(NM_006267.4):c.3380G>A (p.R1127Q) - RANBP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3411A>C r.(?) p.(Pro1137=) - benign g.109380406A>C g.108763950A>C RANBP2(NM_006267.4):c.3411A>C (p.P1137=) - RANBP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3411A>C r.(?) p.(Pro1137=) - benign g.109380406A>C g.108763950A>C RANBP2(NM_006267.4):c.3411A>C (p.P1137=) - RANBP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3461A>T r.(?) p.(His1154Leu) - likely benign g.109380456A>T g.108764000A>T RANBP2(NM_006267.4):c.3461A>T (p.H1154L) - RANBP2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3501T>C r.(?) p.(Asp1167=) - likely benign g.109380496T>C - RANBP2(NM_006267.4):c.3501T>C (p.D1167=) - RANBP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3612C>T r.(?) p.(Phe1204=) - likely benign g.109380607C>T - RANBP2(NM_006267.4):c.3612C>T (p.F1204=) - RANBP2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3683G>C r.(?) p.(Gly1228Ala) - VUS g.109380678G>C g.108764222G>C RANBP2(NM_006267.4):c.3683G>C (p.G1228A) - RANBP2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4247_4249del r.(?) p.(Glu1416del) - VUS g.109381242_109381244del g.108764786_108764788del RANBP2(NM_006267.4):c.4247_4249delAAG (p.E1416del) - RANBP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.4250G>A r.(?) p.(Gly1417Asp) - VUS g.109381245G>A g.108764789G>A RANBP2(NM_006267.4):c.4250G>A (p.G1417D) - RANBP2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 20 c.4440_4441insAAAGCTTTGTCCTTTCCTTCTAAAAAGGAA r.(?) p.(Glu1480_Gly1481insLysAlaLeuSerPheProSerLysLysGlu) - VUS g.109381435_109381436insAAAGCTTTGTCCTTTCCTTCTAAAAAGGAA g.108764979_108764980insAAAGCTTTGTCCTTTCCTTCTAAAAAGGAA c.4433_4434insAAAGGAAAAAGCTTTGTCCTTTCCTTCTAA - RANBP2_000114 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.4498G>C r.(?) p.(Ala1500Pro) - likely benign g.109381493G>C g.108765037G>C RANBP2(NM_006267.4):c.4498G>C (p.A1500P) - RANBP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4498G>C r.(?) p.(Ala1500Pro) - likely benign g.109381493G>C - RANBP2(NM_006267.4):c.4498G>C (p.A1500P) - RANBP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4530A>G r.(?) p.(Leu1510=) - likely benign g.109381525A>G g.108765069A>G RANBP2(NM_006267.4):c.4530A>G (p.L1510=) - RANBP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4663C>A r.(?) p.(Arg1555=) - likely benign g.109381658C>A g.108765202C>A RANBP2(NM_006267.4):c.4663C>A (p.R1555=) - RANBP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4760G>T r.(?) p.(Gly1587Val) - likely benign g.109381755G>T - RANBP2(NM_006267.4):c.4760G>T (p.G1587V) - RANBP2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4791C>T r.(?) p.(Ser1597=) - likely benign g.109381786C>T - RANBP2(NM_006267.4):c.4791C>T (p.S1597=) - RANBP2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4826A>T r.(?) p.(Gln1609Leu) - likely benign g.109381821A>T g.108765365A>T RANBP2(NM_006267.4):c.4826A>T (p.Q1609L) - RANBP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.4976A>G r.(?) p.(Glu1659Gly) - VUS g.109381971A>G g.108765515A>G RANBP2(NM_006267.4):c.4976A>G (p.E1659G) - RANBP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.4999G>A r.(?) p.(Gly1667Arg) - VUS g.109381994G>A g.108765538G>A RANBP2(NM_006267.4):c.4999G>A (p.G1667R) - RANBP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4999G>A r.(?) p.(Gly1667Arg) - VUS g.109381994G>A - RANBP2(NM_006267.4):c.4999G>A (p.G1667R) - RANBP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5175A>G r.(?) p.(Glu1725=) - likely benign g.109382170A>G g.108765714A>G RANBP2(NM_006267.4):c.5175A>G (p.E1725=) - RANBP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.5175A>G r.(?) p.(Glu1725=) - likely benign g.109382170A>G g.108765714A>G RANBP2(NM_006267.4):c.5175A>G (p.E1725=) - RANBP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.5217C>T r.(?) p.(Ala1739=) - likely benign g.109382212C>T g.108765756C>T RANBP2(NM_006267.4):c.5217C>T (p.A1739=) - RANBP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.5354G>A r.(?) p.Trp1785* ACMG VUS g.109382349G>A g.108765893G>A - - RANBP2_000044 so far only 4 missense variants in HGMD - - - Germline - - - 0 - Andreas Laner
-?/. - c.5731A>G r.(?) p.(Lys1911Glu) - likely benign g.109382726A>G g.108766270A>G RANBP2(NM_006267.4):c.5731A>G (p.K1911E) - RANBP2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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