All variants in the INSR gene

Information The variants shown are described using the NM_000208.2 transcript reference sequence.

249 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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>G r.(?) p.(Ala2Gly) - benign g.7293898G>C - INSR(NM_000208.4):c.5C>G (p.A2G) - INSR_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.12G>T r.(?) p.(Gly4=) - likely benign g.7293891C>A - INSR(NM_000208.2):c.12G>T (p.(=)) - INSR_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.25G>C r.(?) p.(Ala9Pro) - likely benign g.7293878C>G g.7293867C>G INSR(NM_000208.2):c.25G>C (p.(Ala9Pro)) - INSR_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.38_39insCCTGCTGGTGGCGGTGGCCGC r.(?) p.(Val16_Leu22dup) - likely benign g.7293865_7293866insCGGCCACCGCCACCAGCAGGG - INSR(NM_000208.2):c.38_39insCCTGCTGGTGGCGGTGGCCGC (p.(Val16_Leu22dup)) - INSR_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.39G>C r.(?) p.(Pro13=) - likely benign g.7293864C>G g.7293853C>G INSR(NM_000208.3):c.39G>C (p.P13=) - INSR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.40_41insCCC r.(?) p.(Pro13dup) - likely benign g.7293863_7293864insGGG - INSR(NM_000208.2):c.40_41insCCC (p.(Pro13dup)) - INSR_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.41T>C r.(?) p.(Leu14Pro) - likely benign g.7293862A>G - INSR(NM_000208.2):c.41T>C (p.(Leu14Pro)), INSR(NM_000208.4):c.41T>C (p.L14P) - INSR_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.41T>C r.(?) p.(Leu14Pro) - likely benign g.7293862A>G - INSR(NM_000208.2):c.41T>C (p.(Leu14Pro)), INSR(NM_000208.4):c.41T>C (p.L14P) - INSR_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.84C>A r.(?) p.(His28Gln) - VUS g.7293819G>T - INSR(NM_000208.2):c.84C>A (p.(His28Gln)), INSR(NM_000208.3):c.84C>A (p.H28Q) - INSR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.84C>A r.(?) p.(His28Gln) - likely benign g.7293819G>T - INSR(NM_000208.2):c.84C>A (p.(His28Gln)), INSR(NM_000208.3):c.84C>A (p.H28Q) - INSR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.90C>T r.(?) p.(Tyr30=) - likely benign g.7293813G>A g.7293802G>A INSR(NM_000208.3):c.90C>T (p.Y30=) - INSR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.101-2A>C r.spl? p.? - pathogenic g.7267909T>G - INSR(NM_000208.4):c.101-2A>C - INSR_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.117T>C r.(?) p.(Asp39=) - likely benign g.7267891A>G g.7267880A>G INSR(NM_000208.3):c.117T>C (p.D39=) - INSR_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.224A>G r.(?) p.(Asp75Gly) - likely benign g.7267784T>C - INSR(NM_000208.2):c.224A>G (p.(Asp75Gly)) - INSR_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.262T>C r.(?) p.(Leu88=) - benign g.7267746A>G g.7267735A>G INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=) - INSR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.262T>C r.(?) p.(Leu88=) - benign g.7267746A>G g.7267735A>G INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=) - INSR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.262T>C r.(?) p.(Leu88=) - likely benign g.7267746A>G - INSR(NM_000208.2):c.262T>C (p.(Leu88=)), INSR(NM_000208.3):c.262T>C (p.L88=), INSR(NM_000208.4):c.262T>C (p.L88=) - INSR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.278T>C r.(?) p.(Val93Ala) - likely benign g.7267730A>G g.7267719A>G INSR(NM_000208.2):c.278T>C (p.(Val93Ala)) - INSR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.393C>T r.(?) p.(Leu131=) - likely benign g.7267615G>A g.7267604G>A INSR(NM_000208.3):c.393C>T (p.L131=) - INSR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.431T>A r.(?) p.(Val144Asp) - VUS g.7267577A>T - INSR(NM_000208.2):c.431T>A (p.(Val144Asp)) - INSR_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.433C>T r.(?) p.(Arg145Cys) ACMG pathogenic g.7267575G>A g.7267564G>A - - INSR_000001 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. - c.433C>T r.(?) p.(Arg145Cys) ACMG pathogenic g.7267575G>A g.7267564G>A - - INSR_000001 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. - c.433C>T r.(?) p.(Arg145Cys) - pathogenic g.7267575G>A g.7267564G>A - - INSR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.460_461insGCCCCATTTCTGACCGCGGGC r.(?) p.(Tyr154delinsCysProIleSerAspArgGlyHis) - likely pathogenic g.7267547_7267548insGCCCGCGGTCAGAAATGGGGC - INSR(NM_000208.2):c.460_461insGCCCCATTTCTGACCGCGGGC (p.(Tyr154delinsCysProIleSerAspArgGlyHis)) - INSR_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.462_463insCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATG r.(?) p.(Ala156Tyrfs*32) - likely pathogenic g.7267545_7267546insCATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAG - INSR(NM_000208.2):c.462_463insCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATG (p.(Ala156Tyrfs*32)) - INSR_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.466G>A r.(?) p.(Ala156Thr) - likely pathogenic g.7267542C>T - INSR(NM_000208.2):c.466G>A (p.(Ala156Thr)) - INSR_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.485G>A r.(?) p.(Arg162His) - likely benign g.7267523C>T - INSR(NM_000208.2):c.485G>A (p.(Arg162His)) - INSR_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.489C>A r.(?) p.(Ile163=) - likely benign g.7267519G>T - INSR(NM_000208.2):c.489C>A (p.(Ile163=)) - INSR_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.553A>G r.(?) p.(Ile185Val) - likely benign g.7267455T>C - INSR(NM_000208.2):c.553A>G (p.(Ile185Val)) - INSR_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.575G>A r.(?) p.(Gly192Asp) - VUS g.7267433C>T - INSR(NM_000208.2):c.575G>A (p.(Gly192Asp)) - INSR_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.618C>T r.(?) p.(Val206=) - likely benign g.7267390G>A g.7267379G>A INSR(NM_000208.2):c.618C>T (p.(Val206=)), INSR(NM_000208.4):c.618C>T (p.V206=) - INSR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.618C>T r.(?) p.(Val206=) - likely benign g.7267390G>A - INSR(NM_000208.2):c.618C>T (p.(Val206=)), INSR(NM_000208.4):c.618C>T (p.V206=) - INSR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.634C>G r.(?) p.(His212Asp) - likely benign g.7267374G>C g.7267363G>C INSR(NM_000208.2):c.634C>G (p.(His212Asp)) - INSR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.652+5G>A r.spl? p.? - VUS g.7267351C>T - INSR(NM_000208.2):c.652+5G>A (p.?) - INSR_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.652+19G>T r.(=) p.(=) - likely benign g.7267337C>A - INSR(NM_000208.2):c.652+19G>T (p.(=)) - INSR_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-23_653-4dup r.spl? p.? - likely benign g.7184653_7184672dup - INSR(NM_000208.2):c.653-23_653-4dup (p.?) - INSR_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-15_653-4dup r.spl? p.? - likely benign g.7184661_7184672dup - INSR(NM_000208.2):c.653-15_653-4dup (p.?) - INSR_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-13_653-4dup r.spl? p.? - likely benign g.7184663_7184672dup - INSR(NM_000208.2):c.653-13_653-4dup (p.?) - INSR_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-11_653-4dup r.spl? p.? - likely benign g.7184665_7184672dup - INSR(NM_000208.2):c.653-11_653-4dup (p.?), INSR(NM_000208.4):c.653-13_653-6dupTCTCTCTC - INSR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.653-11_653-4dup r.spl? p.? - benign g.7184665_7184672dup - INSR(NM_000208.2):c.653-11_653-4dup (p.?), INSR(NM_000208.4):c.653-13_653-6dupTCTCTCTC - INSR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.653-9del r.(=) p.(=) - benign g.7184657del g.7184646del INSR(NM_000208.2):c.653-9delT (p.(=)) - INSR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.653-7del r.(=) p.(=) - benign g.7184655del g.7184644del INSR(NM_000208.2):c.653-7delT (p.(=)) - INSR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-7_653-4del r.spl? p.? - likely benign g.7184669_7184672del - INSR(NM_000208.2):c.653-7_653-4del (p.?), INSR(NM_000208.4):c.653-7_653-4delTCTC - INSR_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-7_653-4del r.spl? p.? - likely benign g.7184669_7184672del - INSR(NM_000208.2):c.653-7_653-4del (p.?), INSR(NM_000208.4):c.653-7_653-4delTCTC - INSR_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.653-7_653-4dup r.spl? p.? - benign g.7184669_7184672dup g.7184658_7184661dup INSR(NM_000208.2):c.653-4_653-3insTCTC (p.?), INSR(NM_000208.3):c.653-7_653-4dupTCTC - INSR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.653-7_653-4dup r.spl? p.? - likely benign g.7184669_7184672dup - INSR(NM_000208.2):c.653-4_653-3insTCTC (p.?), INSR(NM_000208.3):c.653-7_653-4dupTCTC - INSR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.653-5_653-4del r.spl? p.? - benign g.7184671_7184672del g.7184660_7184661del INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC - INSR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.653-5_653-4del r.spl? p.? - benign g.7184671_7184672del g.7184660_7184661del INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC - INSR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.653-5_653-4del r.spl? p.? - likely benign g.7184671_7184672del g.7184660_7184661del INSR(NM_000208.2):c.653-5_653-4del (p.?), INSR(NM_000208.3):c.653-5_653-4delTC, INSR(NM_000208.4):c.653-5_653-4delTC - INSR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.653-5_653-4dup r.spl? p.? - benign g.7184671_7184672dup g.7184660_7184661dup INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC - INSR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.653-5_653-4dup r.spl? p.? - likely benign g.7184671_7184672dup g.7184660_7184661dup INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC - INSR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.653-5_653-4dup r.spl? p.? - likely benign g.7184671_7184672dup g.7184660_7184661dup INSR(NM_000208.2):c.653-4_653-3insTC (p.?), INSR(NM_000208.3):c.653-5_653-4dupTC, INSR(NM_000208.4):c.653-5_653-4dupTC - INSR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC r.spl? p.? - likely benign g.7184672_7184673insAGAGAGAGAGAGAGAGAGAGAG - INSR(NM_000208.2):c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC (p.?) - INSR_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.660G>T r.(?) p.(=) - likely benign g.7184641C>A - INSR(NM_000208.2):c.660G>T (p.(Pro220=)) - INSR_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.687C>T r.(?) p.(Thr229=) - likely benign g.7184614G>A - INSR(NM_000208.2):c.687C>T (p.(Thr229=)), INSR(NM_000208.4):c.687C>T (p.T229=) - INSR_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.687C>T r.(?) p.(Thr229=) - likely benign g.7184614G>A - INSR(NM_000208.2):c.687C>T (p.(Thr229=)), INSR(NM_000208.4):c.687C>T (p.T229=) - INSR_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.690C>T r.(?) p.(Ala230=) - likely benign g.7184611G>A g.7184600G>A INSR(NM_000208.2):c.690C>T (p.(Ala230=)) - INSR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.726C>T r.(?) p.(Asn242=) - likely benign g.7184575G>A - INSR(NM_000208.2):c.726C>T (p.(=)) - INSR_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.738C>T r.(?) p.(Pro246=) - likely benign g.7184563G>A - INSR(NM_000208.2):c.738C>T (p.(Pro246=)) - INSR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.739G>A r.(?) p.(Asp247Asn) - VUS g.7184562C>T - INSR(NM_000208.2):c.739G>A (p.(Asp247Asn)) - INSR_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.741C>T r.(?) p.(Asp247=) - likely benign g.7184560G>A - INSR(NM_000208.4):c.741C>T (p.D247=) - INSR_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 c.749_751del r.(?) p.(Thr250del) ACMG VUS g.7184553_7184555del g.7184542_7184544del 749_751delCCA - INSR_000093 - - - - Germline - - - - - Guorui Hu
-?/. - c.757G>A r.(?) p.(Val253Met) - likely benign g.7184544C>T - INSR(NM_000208.2):c.757G>A (p.(Val253Met)) - INSR_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.779T>G r.(?) p.(Leu260Arg) - VUS g.7184522A>C - INSR(NM_000208.2):c.779T>G (p.(Leu260Arg)), INSR(NM_000208.4):c.779T>G (p.L260R) - INSR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.779T>G r.(?) p.(Leu260Arg) - VUS g.7184522A>C - INSR(NM_000208.2):c.779T>G (p.(Leu260Arg)), INSR(NM_000208.4):c.779T>G (p.L260R) - INSR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.870C>T r.(?) p.(His290=) - benign g.7184431G>A g.7184420G>A INSR(NM_000208.2):c.870C>T (p.(His290=)), INSR(NM_000208.3):c.870C>T (p.H290=) - INSR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.870C>T r.(?) p.(His290=) - likely benign g.7184431G>A - INSR(NM_000208.2):c.870C>T (p.(His290=)), INSR(NM_000208.3):c.870C>T (p.H290=) - INSR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.881A>G r.(?) p.(Lys294Arg) - likely benign g.7184420T>C g.7184409T>C INSR(NM_000208.2):c.881A>G (p.(Lys294Arg)), INSR(NM_000208.3):c.881A>G (p.K294R) - INSR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.881A>G r.(?) p.(Lys294Arg) - likely benign g.7184420T>C - INSR(NM_000208.2):c.881A>G (p.(Lys294Arg)), INSR(NM_000208.3):c.881A>G (p.K294R) - INSR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.887C>G r.(?) p.(Ser296Trp) - VUS g.7184414G>C - - - INSR_000182 - - - - CLASSIFICATION record - - - - - MobiDetails
-?/. - c.888G>A r.(?) p.(Ser296=) - likely benign g.7184413C>T - INSR(NM_000208.2):c.888G>A (p.(Ser296=)), INSR(NM_000208.4):c.888G>A (p.S296=) - INSR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.888G>A r.(?) p.(Ser296=) - likely benign g.7184413C>T - INSR(NM_000208.2):c.888G>A (p.(Ser296=)), INSR(NM_000208.4):c.888G>A (p.S296=) - INSR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.909G>A r.(?) p.(Gln303=) - benign g.7184392C>T g.7184381C>T INSR(NM_000208.2):c.909G>A (p.(Gln303=)) - INSR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.951C>T r.(?) p.(Ser317=) - likely benign g.7184350G>A g.7184339G>A INSR(NM_000208.2):c.951C>T (p.(Ser317=)), INSR(NM_000208.3):c.951C>T (p.S317=) - INSR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.951C>T r.(?) p.(Ser317=) - likely benign g.7184350G>A g.7184339G>A INSR(NM_000208.2):c.951C>T (p.(Ser317=)), INSR(NM_000208.3):c.951C>T (p.S317=) - INSR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.956A>T r.(?) p.(Tyr319Phe) - likely benign g.7184345T>A g.7184334T>A INSR(NM_000208.2):c.956A>T (p.(Tyr319Phe)) - INSR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.959C>T r.(?) p.(Thr320Met) - likely benign g.7184342G>A - INSR(NM_000208.2):c.959C>T (p.(Thr320Met)) - INSR_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.960G>A r.(?) p.(=) - likely benign g.7184341C>T - INSR(NM_000208.2):c.960G>A (p.(=)) - INSR_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.975-17_975-14del r.(=) p.(=) - likely benign g.7174765_7174768del - INSR(NM_000208.2):c.975-17_975-14del (p.(=)) - INSR_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1042A>C r.(?) p.(Ile348Leu) - likely benign g.7174675T>G - INSR(NM_000208.2):c.1042A>C (p.(Ile348Leu)) - INSR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1045G>A r.(?) p.(Asp349Asn) - VUS g.7174672C>T g.7174661C>T INSR(NM_000208.2):c.1045G>A (p.(Asp349Asn)) - INSR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1051G>A r.(?) p.(Val351Met) - likely benign g.7174666C>T - INSR(NM_000208.2):c.1051G>A (p.(Val351Met)) - INSR_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1073G>A r.(?) p.(Arg358Gln) - VUS g.7174644C>T - INSR(NM_000208.2):c.1073G>A (p.(Arg358Gln)) - INSR_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1080C>T r.(?) p.(Cys360=) - likely benign g.7174637G>A g.7174626G>A INSR(NM_000208.2):c.1080C>T (p.(Cys360=)), INSR(NM_000208.4):c.1080C>T (p.C360=) - INSR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1080C>T r.(?) p.(Cys360=) - likely benign g.7174637G>A - INSR(NM_000208.2):c.1080C>T (p.(Cys360=)), INSR(NM_000208.4):c.1080C>T (p.C360=) - INSR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1092C>T r.(?) p.(=) - likely benign g.7174625G>A - INSR(NM_000208.4):c.1092C>T (p.N364=) - INSR_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1098T>C r.(?) p.(Ser366=) - likely benign g.7174619A>G g.7174608A>G INSR(NM_000208.2):c.1098T>C (p.(Ser366=)) - INSR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1102A>C r.(?) p.(Ile368Leu) - VUS g.7174615T>G - INSR(NM_000208.2):c.1102A>C (p.(Ile368Leu)) - INSR_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1123+13G>T r.(=) p.(=) - likely benign g.7174581C>A g.7174570C>A INSR(NM_000208.2):c.1123+13G>T (p.(=)) - INSR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1130T>C r.(?) p.(Leu377Pro) - VUS g.7172439A>G - INSR(NM_000208.2):c.1130T>C (p.(Leu377Pro)) - INSR_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1151A>G r.(?) p.(Asn384Ser) - VUS g.7172418T>C - INSR(NM_000208.2):c.1151A>G (p.(Asn384Ser)) - INSR_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1179G>A r.(?) p.(=) - likely benign g.7172390C>T - INSR(NM_000208.2):c.1179G>A (p.(Gly393=)) - INSR_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1191C>T r.(?) p.(Ile397=) - likely benign g.7172378G>A - INSR(NM_000208.2):c.1191C>T (p.(Ile397=)) - INSR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1195C>T r.(?) p.(Arg399*) - pathogenic g.7172374G>A - INSR(NM_000208.2):c.1195C>T (p.(Arg399Ter)) - INSR_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1203C>T r.(?) p.(=) - likely benign g.7172366G>A - INSR(NM_000208.2):c.1203C>T (p.(Tyr401=)) - INSR_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1229G>A r.(?) p.(Arg410Gln) - VUS g.7172340C>T - INSR(NM_000208.4):c.1229G>A (p.R410Q) - INSR_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1413A>G r.(?) p.(=) - likely benign g.7170618T>C - INSR(NM_000208.2):c.1413A>G (p.(=)) - INSR_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1483+3A>C r.spl? p.? - VUS g.7170545T>G - INSR(NM_000208.2):c.1483+3A>C - INSR_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1503A>G r.(?) p.(Lys501=) - likely benign g.7168086T>C g.7168075T>C INSR(NM_000208.2):c.1503A>G (p.(Lys501=)) - INSR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1550A>G r.(?) p.(Glu517Gly) - VUS g.7168039T>C - INSR(NM_000208.2):c.1550A>G (p.(Glu517Gly)) - INSR_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.