Unique variants in the GPR82 gene

Information The variants shown are described using the NM_080817.4 transcript reference sequence.

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Effect     

Reported     

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     
?/. 1 - c.-203834G>T r.(?) p.(=) - VUS g.41379814G>T g.41520561G>T CASK(NM_003688.3):c.2625C>A (p.D875E) - CASK_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-203799C>A r.(?) p.(=) - likely pathogenic g.41379849C>A g.41520596C>A - - CASK_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-200349A>G r.(?) p.(=) - benign g.41383299A>G g.41524046A>G CASK(NM_003688.3):c.2506-12T>C - CASK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-200338_-200337dup r.(?) p.(=) - benign g.41383310_41383311dup g.41524057_41524058dup CASK(NM_003688.3):c.2506-12_2506-11dupTT - CASK_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-200337del r.(?) p.(=) - benign, likely benign g.41383311del g.41524058del CASK(NM_003688.3):c.2506-11delT - CASK_000024, CASK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 3 - c.-200337dup r.(?) p.(=) - benign g.41383311dup g.41524058dup CASK(NM_003688.3):c.2506-11dupT - CASK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.-193394C>T r.(?) p.(=) - benign g.41390254C>T g.41531001C>T CASK(NM_003688.3):c.2505+6G>A - CASK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-193383G>A r.(?) p.(=) - likely benign, VUS g.41390265G>A g.41531012G>A CASK(NM_001126054.2):c.2431C>T (p.(Pro811Ser)) - CASK_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 1 - c.-193329C>A r.(?) p.(=) - pathogenic g.41390319C>A g.41531066C>A - - CASK_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-193301G>A r.(?) p.(=) - likely benign g.41390347G>A g.41531094G>A CASK(NM_003688.3):c.2418C>T (p.H806=) - CASK_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-189690C>T r.(?) p.(=) - pathogenic g.41393958C>T g.41534705C>T CASK(NM_003688.3):c.2302+1G>A - CASK_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-189668G>A r.(?) p.(=) - likely benign g.41393980G>A - - - CASK_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-189415C>T r.(?) p.(=) - likely benign g.41394233C>T g.41534980C>T CASK(NM_001126055.2):c.2069-7G>A (p.(=)) - CASK_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.-181683A>G r.(?) p.(=) - likely pathogenic g.41401965A>G g.41542712A>G CASK(NM_003688.3):c.2134T>C (p.Y712H) - CASK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.-181587T>C r.(?) p.(=) - pathogenic g.41402061T>C - CASK(NM_003688.3):c.2040-2A>G - CASK_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-181580T>C r.(?) p.(=) - likely benign g.41402068T>C g.41542815T>C CASK(NM_003688.3):c.2040-9A>G - CASK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-170691C>T r.(?) p.(=) - likely benign g.41412957C>T g.41553704C>T CASK(NM_003688.3):c.2039+15G>A - CASK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-170463C>T r.(?) p.(=) - likely benign g.41413185C>T g.41553932C>T CASK(NM_003688.3):c.1843-17G>A - CASK_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.-168790G>A r.(?) p.(=) - pathogenic g.41414858G>A g.41555605G>A CASK(NM_003688.3):c.1837C>T (p.R613*) - CASK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-167351G>A r.(?) p.(=) - likely benign g.41416297G>A g.41557044G>A CASK(NM_001367721.1):c.1794C>T (p.N598=) - CASK_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-164565A>G r.(?) p.(=) - likely benign g.41419083A>G g.41559830A>G CASK(NM_003688.3):c.1686T>C (p.S562=) - CASK_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.-162838_-162837insAA r.(?) p.(=) - likely pathogenic g.41420810_41420811insAA g.41561557_41561558insAA - - CASK_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-162744A>C r.(?) p.(=) - likely benign g.41420904A>C g.41561651A>C CASK(NM_003688.3):c.1583-7T>G - CASK_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-154727C>T r.(?) p.(=) - VUS g.41428921C>T g.41569668C>T CASK(NM_003688.3):c.1582G>A (p.G528S) - CASK_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.-154707C>T r.(?) p.(=) - likely pathogenic g.41428941C>T g.41569688C>T - - CASK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-154648C>T r.(?) p.(=) - pathogenic g.41429000C>T g.41569747C>T - - CASK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-154646G>A r.(?) p.(=) - VUS g.41429002G>A g.41569749G>A CASK(NM_003688.3):c.1504-3C>T - CASK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-154634del r.(?) p.(=) - likely benign g.41429014del g.41569761del CASK(NM_003688.3):c.1504-6delT - CASK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-146018C>T r.(?) p.(=) - likely pathogenic g.41437630C>T - CASK(NM_003688.3):c.1466G>A - CASK_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-145990T>C r.(?) p.(=) - VUS g.41437658T>C g.41578405T>C CASK(NM_003688.3):c.1438A>G (p.M480V) - CASK_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.-145984C>A r.(?) p.(=) - pathogenic g.41437664C>A g.41578411C>A - - CASK_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-145972C>A r.(?) p.(=) - pathogenic g.41437676C>A g.41578423C>A - - CASK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-145960C>T r.(?) p.(=) - VUS g.41437688C>T - CASK(NM_001367721.1):c.1408G>A (p.G470S) - CASK_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-137506A>G r.(?) p.(=) - likely benign g.41446142A>G g.41586889A>G CASK(NM_003688.3):c.1314+18T>C - CASK_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.-134898A>G r.(?) p.(=) - benign g.41448750A>G g.41589497A>G CASK(NM_003688.3):c.1233+18T>C - CASK_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.-134882A>G r.(?) p.(=) - VUS g.41448766A>G - - - CASK_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-134824_-134823del r.(?) p.(=) - likely pathogenic g.41448824_41448825del g.41589571_41589572del - - CASK_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-134788A>C r.(?) p.(=) - likely benign g.41448860A>C g.41589607A>C CASK(NM_003688.3):c.1156-15T>G - CASK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-114440T>C r.(?) p.(=) - likely benign g.41469208T>C g.41609955T>C CASK(NM_003688.3):c.1104A>G (p.L368=) - CASK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-114413C>T r.(?) p.(=) - likely benign g.41469235C>T g.41609982C>T CASK(NM_003688.3):c.1077G>A (p.A359=) - CASK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-114412G>A r.(?) p.(=) - VUS g.41469236G>A - CASK(NM_001126054.2):c.1076C>T (p.(Ala359Val)) - CASK_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.-114364G>A r.(?) p.(=) - benign, likely benign g.41469284G>A g.41610031G>A CASK(NM_001126054.2):c.1034-6C>T (p.(=)), CASK(NM_003688.3):c.1034-6C>T - CASK_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-97768A>G r.(?) p.(=) - VUS g.41485880A>G - CASK(NM_001367721.1):c.992T>C (p.F331S) - CASK_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-87818C>T r.(?) p.(=) - pathogenic g.41495830C>T g.41636577C>T - - CASK_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-63857del r.(?) p.(=) - pathogenic g.41519791del - CASK(NM_001367721.1):c.732delT (p.H244Qfs*9) - CASK_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-59048A>C r.(?) p.(=) - VUS g.41524600A>C g.41665347A>C - - CASK_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-53081G>T r.(?) p.(=) - benign g.41530567G>T g.41671314G>T CASK(NM_003688.3):c.532+114C>A - CASK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-52982T>A r.(?) p.(=) - likely benign g.41530666T>A g.41671413T>A CASK(NM_003688.3):c.532+15A>T - CASK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-52981del r.(?) p.(=) - benign g.41530667del g.41671414del CASK(NM_003688.3):c.532+25delA - CASK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-52981dup r.(?) p.(=) - likely benign g.41530667dup g.41671414dup CASK(NM_003688.3):c.532+13delTinsTA - CASK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-52981T>A r.(?) p.(=) - likely benign g.41530667T>A g.41671414T>A CASK(NM_003688.3):c.532+14A>T - CASK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.-52916C>T r.(?) p.(=) - likely pathogenic g.41530732C>T g.41671479C>T - - CASK_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-52879G>A r.(?) p.(=) - likely benign g.41530769G>A g.41671516G>A CASK(NM_001367721.1):c.444C>T (p.L148=) - CASK_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-52608A>T r.(?) p.(=) - benign g.41531040A>T g.41671787A>T CASK(NM_003688.3):c.430-257T>A - CASK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-28289G>C r.(?) p.(=) - likely benign g.41555359G>C g.41696106G>C GPR34(NM_001097579.1):c.473G>C (p.(Arg158Pro)) - CASK_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-28163A>G r.(?) p.(=) - VUS g.41555485A>G g.41696232A>G GPR34(NM_001097579.2):c.599A>G (p.N200S) - CASK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-27812C>T r.(?) p.(=) - VUS g.41555836C>T g.41696583C>T GPR34(NM_001097579.1):c.950C>T (p.(Ser317Phe)) - CASK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.25C>A r.(?) p.(Gln9Lys) - VUS g.41586304C>A g.41727051C>A CASK(NM_001126054.2):c.429+12333G>T (p.(=)) - CASK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.67A>C r.(?) p.(Ile23Leu) - likely benign g.41586346A>C - GPR82(NM_080817.4):c.67A>C (p.I23L) - CASK_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.830A>G r.(?) p.(Gln277Arg) - likely benign g.41587109A>G - GPR82(NM_080817.4):c.830A>G (p.Q277R) - CASK_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.874_875del r.(?) p.(Asn292HisfsTer11) - VUS g.41587153_41587154del g.41727900_41727901del CASK(NM_001126054.2):c.429+11487_429+11488del (p.(=)) - CASK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.939T>C r.(=) p.(=) - VUS g.41587218T>C g.41727965T>C D313D - CASK_000070 recurrent, found 24 times PubMed: Tarpey 2009 - - Germline - 24/208 cases - - - Lucy Raymond
+?/. 1 - c.*11346C>T r.(=) p.(=) - likely pathogenic g.41598636C>T g.41739383C>T - - CASK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*11413A>G r.(=) p.(=) - likely benign g.41598703A>G g.41739450A>G CASK(NM_003688.3):c.363T>C (p.Y121=) - CASK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*17549A>C r.(=) p.(=) - VUS g.41604839A>C g.41745586A>C CASK(NM_003688.3):c.294T>G (p.D98E) - CASK_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*17570A>T r.(=) p.(=) - benign g.41604860A>T g.41745607A>T CASK(NM_003688.3):c.279-6T>A - CASK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.*59224G>A r.(=) p.(=) - likely benign g.41646514G>A g.41787261G>A CASK(NM_003688.3):c.195C>T (p.I65=) - CASK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.*125171G>A r.(=) p.(=) - pathogenic g.41712461G>A g.41853208G>A - - CASK_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*194907G>T r.(=) p.(=) - pathogenic g.41782197G>T g.41922944G>T - - CASK_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*194951T>C r.(=) p.(=) - pathogenic g.41782241T>C g.41922988T>C - - CASK_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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