Unique variants in the GPRASP2 gene

Information The variants shown are described using the NM_138437.5 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-110865G>A r.(?) p.(=) - likely benign g.101857095G>A g.102602167G>A ARMCX5(NM_001168478.1):c.26G>A (p.(Arg9Lys)) - ARMCX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-110402T>G r.(?) p.(=) - VUS g.101857558T>G g.102602630T>G ARMCX5(NM_001168478.1):c.489T>G (p.(Ser163Arg)) - ARMCX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-110084T>G r.(?) p.(=) - likely benign g.101857876T>G - ARMCX5(NM_001168479.1):c.807T>G (p.P269=) - ARMCX5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-110031A>G r.(?) p.(=) - likely benign g.101857929A>G g.102603001A>G ARMCX5(NM_001168478.1):c.860A>G (p.(Gln287Arg)) - ARMCX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-109711C>A r.(?) p.(=) - likely benign g.101858249C>A g.102603321C>A ARMCX5(NM_001168479.1):c.1180C>A (p.H394N) - ARMCX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-109706A>G r.(?) p.(=) - VUS g.101858254A>G g.102603326A>G ARMCX5(NM_001168479.1):c.1185A>G (p.Q395=) - ARMCX5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-109620T>A r.(?) p.(=) - benign g.101858340T>A g.102603412T>A ARMCX5(NM_001168479.1):c.1271T>A (p.F424Y) - ARMCX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-109502C>A r.(?) p.(=) - likely benign g.101858458C>A - ARMCX5(NM_001168479.1):c.1389C>A (p.H463Q) - ARMCX5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-58909A>T r.(?) p.(=) - VUS g.101909051A>T g.102654123A>T GPRASP1(NM_001099411.1):c.210A>T (p.(=)) - ARMCX5-GPRASP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-58619A>C r.(?) p.(=) - likely benign g.101909341A>C g.102654413A>C GPRASP1(NM_001099410.1):c.500A>C (p.(Lys167Thr)) - ARMCX5-GPRASP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-58497G>A r.(?) p.(=) - VUS g.101909463G>A g.102654535G>A GPRASP1(NM_001099411.1):c.622G>A (p.(Glu208Lys)) - ARMCX5-GPRASP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-58380A>T r.(?) p.(=) - VUS g.101909580A>T g.102654652A>T GPRASP1(NM_001099411.1):c.739A>T (p.(Ile247Phe)) - ARMCX5-GPRASP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-58173A>T r.(?) p.(=) - VUS g.101909787A>T g.102654859A>T GPRASP1(NM_001184727.1):c.946A>T (p.K316*) - ARMCX5-GPRASP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-58109G>A r.(?) p.(=) - likely benign g.101909851G>A g.102654923G>A GPRASP1(NM_001184727.1):c.1010G>A (p.R337Q) - ARMCX5-GPRASP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-58063A>C r.(?) p.(=) - likely benign g.101909897A>C g.102654969A>C GPRASP1(NM_001099410.1):c.1056A>C (p.(Lys352Asn)) - ARMCX5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-57745G>A r.(?) p.(=) - likely benign g.101910215G>A g.102655287G>A GPRASP1(NM_001184727.1):c.1374G>A (p.R458=) - ARMCX5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-57731G>A r.(?) p.(=) - likely benign g.101910229G>A g.102655301G>A GPRASP1(NM_001184727.1):c.1388G>A (p.R463H) - ARMCX5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-57572C>G r.(?) p.(=) - VUS g.101910388C>G g.102655460C>G GPRASP1(NM_001099410.1):c.1547C>G (p.(Thr516Ser)) - ARMCX5-GPRASP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-57463C>G r.(?) p.(=) - VUS g.101910497C>G g.102655569C>G GPRASP1(NM_001099411.1):c.1656C>G (p.(=)) - ARMCX5-GPRASP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.-57336A>G r.(?) p.(=) - likely benign g.101910624A>G g.102655696A>G GPRASP1(NM_001099410.1):c.1783A>G (p.(Arg595Gly)), GPRASP1(NM_001184727.1):c.1783A>G (p.R595G) - ARMCX5-GPRASP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.-57150G>A r.(?) p.(=) - VUS g.101910810G>A g.102655882G>A GPRASP1(NM_001099410.1):c.1969G>A (p.(Gly657Arg)) - ARMCX5-GPRASP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-57111_-57109del r.(?) p.(=) - VUS g.101910849_101910851del g.102655921_102655923del GPRASP1(NM_001184727.1):c.2008_2010delGAG (p.E670del) - ARMCX5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-56957G>A r.(?) p.(=) - likely benign g.101911003G>A g.102656075G>A GPRASP1(NM_001184727.1):c.2162G>A (p.G721E) - ARMCX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-56915C>T r.(?) p.(=) - likely benign g.101911045C>T g.102656117C>T GPRASP1(NM_001099410.1):c.2204C>T (p.(Thr735Ile)) - ARMCX5-GPRASP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-56747T>C r.(?) p.(=) - likely benign g.101911213T>C g.102656285T>C GPRASP1(NM_001099410.1):c.2372T>C (p.(Leu791Pro)) - ARMCX5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-56736G>C r.(?) p.(=) - VUS g.101911224G>C - GPRASP1(NM_001184727.1):c.2383G>C (p.A795P) - ARMCX5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-56318A>G r.(?) p.(=) - VUS g.101911642A>G g.102656714A>G GPRASP1(NM_001184727.1):c.2801A>G (p.E934G) - ARMCX5-GPRASP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-56309T>C r.(?) p.(=) - VUS g.101911651T>C g.102656723T>C GPRASP1(NM_001184727.1):c.2810T>C (p.V937A) - ARMCX5-GPRASP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-56033C>G r.(?) p.(=) - likely benign g.101911927C>G g.102656999C>G GPRASP1(NM_001184727.1):c.3086C>G (p.T1029R) - ARMCX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-55436C>T r.(?) p.(=) - VUS g.101912524C>T g.102657596C>T GPRASP1(NM_001184727.1):c.3683C>T (p.P1228L) - ARMCX5-GPRASP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-55153del r.(?) p.(=) - VUS g.101912807del - GPRASP1(NM_001099410.1):c.3966del (p.(Phe1322Leufs*2)) - ARMCX5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-55009C>T r.(?) p.(=) - likely benign g.101912951C>T - GPRASP1(NM_001184727.1):c.4110C>T (p.H1370=) - ARMCX5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.-479-14G>C r.(=) p.(=) - VUS g.101968696G>C g.102713768G>C - - ARMCX5-GPRASP2_000002, GPRASP2_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.242T>C r.(?) p.(Met81Thr) - likely benign g.101970039T>C - GPRASP2(NM_001184874.2):c.242T>C (p.M81T) - ARMCX5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.326G>A r.(?) p.(Arg109His), R109H - likely benign, VUS g.101970123G>A g.102715195G>A ARMCX5-GPRASP2(NM_001199818.1):c.326G>A (p.(Arg109His)), R109H - ARMCX5-GPRASP2_000021 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/., ?/. 2 - c.519A>C r.(?) p.(Arg173Ser), R173S - likely benign, VUS g.101970316A>C g.102715388A>C ARMCX5-GPRASP2(NM_001199818.1):c.519A>C (p.(Arg173Ser)), R173S - GPRASP2_000002 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.788A>G r.(?) p.(Gln263Arg) - likely benign g.101970585A>G g.102715657A>G GPRASP2(NM_001184874.2):c.788A>G (p.Q263R) - ARMCX5-GPRASP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1055A>G r.(?) p.(His352Arg) - likely benign g.101970852A>G g.102715924A>G GPRASP2(NM_001184874.2):c.1055A>G (p.H352R) - ARMCX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1157T>C r.(?) p.(Ile386Thr) - VUS g.101970954T>C g.102716026T>C GPRASP2(NM_001184874.2):c.1157T>C (p.I386T) - ARMCX5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1298C>T r.(?) p.(Ala433Val) - likely benign g.101971095C>T g.102716167C>T GPRASP2(NM_001184874.2):c.1298C>T (p.A433V) - ARMCX5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1703G>A r.(?) p.(Arg568Gln) - VUS g.101971500G>A g.102716572G>A ARMCX5-GPRASP2(NM_001199818.1):c.1703G>A (p.(Arg568Gln)) - ARMCX5-GPRASP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2160G>A r.(?) p.(Met720Ile) - likely benign g.101971957G>A g.102717029G>A GPRASP2(NM_001184874.2):c.2160G>A (p.M720I) - ARMCX5-GPRASP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2163C>T r.(?) p.(Ser721=) - likely benign g.101971960C>T g.102717032C>T S721S - GPRASP2_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
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