All variants in the LRCH2 gene

Information The variants shown are described using the NM_020871.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
Legend   How to query  

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.220C>A r.(?) p.(Gln74Lys) - likely benign g.114468385G>T g.115233822G>T LRCH2(NM_020871.3):c.220C>A (p.Q74K) - LRCH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.349+280T>G r.(=) p.(=) - VUS g.114467976A>C g.115233413A>C - - LRCH2_000001 - - - - Germline - - - - - Yu Sun
?/. - c.349+280T>G r.(=) p.(=) - VUS g.114467976A>C g.115233413A>C - - LRCH2_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.350-4251C>A r.(=) p.(=) - likely benign g.114427184G>T g.115192621G>T RBMXL3(NM_001145346.1):c.3180G>T (p.(Arg1060Ser)) - LRCH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.350-4183C>A r.(=) p.(=) - VUS g.114427116G>T g.115192553G>T RBMXL3(NM_001145346.1):c.3112G>T (p.D1038Y) - LRCH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.350-4100C>T r.(=) p.(=) - VUS g.114427033G>A g.115192470G>A RBMXL3(NM_001145346.1):c.3029G>A (p.R1010H) - LRCH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.350-4010C>T r.(=) p.(=) - VUS g.114426943G>A g.115192380G>A RBMXL3(NM_001145346.1):c.2939G>A (p.G980E) - LRCH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3919C>T r.(=) p.(=) - VUS g.114426852G>A g.115192289G>A RBMXL3(NM_001145346.1):c.2848G>A (p.(Glu950Lys)) - LRCH2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-3863T>C r.(=) p.(=) - likely benign g.114426796A>G g.115192233A>G RBMXL3(NM_001145346.1):c.2792A>G (p.N931S) - LRCH2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-3836T>C r.(=) p.(=) - likely benign g.114426769A>G g.115192206A>G RBMXL3(NM_001145346.1):c.2765A>G (p.N922S) - LRCH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-3678G>A r.(=) p.(=) - likely benign g.114426611C>T - RBMXL3(NM_001145346.1):c.2607C>T (p.H869=) - LRCH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3651G>C r.(=) p.(=) - VUS g.114426584C>G - RBMXL3(NM_001145346.1):c.2580C>G (p.H860Q) - LRCH2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3550C>T r.(=) p.(=) - VUS g.114426483G>A g.115191920G>A RBMXL3(NM_001145346.1):c.2479G>A (p.(Asp827Asn)) - LRCH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-3498G>A r.(=) p.(=) - likely benign g.114426431C>T g.115191868C>T RBMXL3(NM_001145346.1):c.2427C>T (p.N809=) - LRCH2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3494C>T r.(=) p.(=) - VUS g.114426427G>A g.115191864G>A LRCH2(NM_001243963.1):c.350-3494C>T (p.(=)) - LRCH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-3419C>T r.(=) p.(=) - VUS g.114426352G>A g.115191789G>A RBMXL3(NM_001145346.1):c.2348G>A (p.R783Q) - LRCH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.350-3408G>A r.(=) p.(=) - likely benign g.114426341C>T - RBMXL3(NM_001145346.1):c.2337C>T (p.Y779=) - LRCH2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3386C>A r.(=) p.(=) - VUS g.114426319G>T g.115191756G>T RBMXL3(NM_001145346.1):c.2315G>T (p.(Arg772Leu)) - LRCH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-3359C>T r.(=) p.(=) - likely benign g.114426292G>A g.115191729G>A RBMXL3(NM_001145346.1):c.2288G>A (p.(Gly763Asp)) - LRCH2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-3308C>T r.(=) p.(=) - likely benign g.114426241G>A g.115191678G>A RBMXL3(NM_001145346.1):c.2237G>A (p.R746H) - LRCH2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-3242G>A r.(=) p.(=) - likely benign g.114426175C>T g.115191612C>T RBMXL3(NM_001145346.1):c.2171C>T (p.S724L) - LRCH2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3187C>T r.(=) p.(=) - VUS g.114426120G>A g.115191557G>A RBMXL3(NM_001145346.1):c.2116G>A (p.(Gly706Ser)) - LRCH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-3162G>T r.(=) p.(=) - VUS g.114426095C>A - RBMXL3(NM_001145346.1):c.2091C>A (p.S697R) - LRCH2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-3144C>G r.(=) p.(=) - likely benign g.114426077G>C g.115191514G>C RBMXL3(NM_001145346.1):c.2073G>C (p.G691=) - LRCH2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-3095C>T r.(=) p.(=) - VUS g.114426028G>A g.115191465G>A RBMXL3(NM_001145346.1):c.2024G>A (p.R675H) - LRCH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.350-3094G>A r.(=) p.(=) - VUS g.114426027C>T g.115191464C>T RBMXL3(NM_001145346.1):c.2023C>T (p.(Arg675Cys)) - LRCH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-3061C>T r.(=) p.(=) - likely benign g.114425994G>A g.115191431G>A RBMXL3(NM_001145346.1):c.1990G>A (p.(Gly664Arg)) - LRCH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-3034C>T r.(=) p.(=) - likely benign g.114425967G>A g.115191404G>A RBMXL3(NM_001145346.1):c.1963G>A (p.(Asp655Asn)) - LRCH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.350-2994G>C r.(=) p.(=) - VUS g.114425927C>G g.115191364C>G RBMXL3(NM_001145346.1):c.1923C>G (p.N641K) - LRCH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-2962C>G r.(=) p.(=) - VUS g.114425895G>C g.115191332G>C LRCH2(NM_001243963.1):c.350-2962C>G (p.(=)) - LRCH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-2956G>A r.(=) p.(=) - VUS g.114425889C>T g.115191326C>T LRCH2(NM_001243963.1):c.350-2956G>A (p.(=)), RBMXL3(NM_001145346.1):c.1885C>T (p.R629C) - LRCH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-2956G>A r.(=) p.(=) - likely benign g.114425889C>T - LRCH2(NM_001243963.1):c.350-2956G>A (p.(=)), RBMXL3(NM_001145346.1):c.1885C>T (p.R629C) - LRCH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-2943G>A r.(=) p.(=) - likely benign g.114425876C>T g.115191313C>T RBMXL3(NM_001145346.1):c.1872C>T (p.Y624=) - LRCH2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-2845C>T r.(=) p.(=) - VUS g.114425778G>A g.115191215G>A RBMXL3(NM_001145346.1):c.1774G>A (p.E592K) - LRCH2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-2738C>T r.(=) p.(=) - likely benign g.114425671G>A g.115191108G>A RBMXL3(NM_001145346.1):c.1667G>A (p.R556Q) - LRCH2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-2705T>C r.(=) p.(=) - VUS g.114425638A>G - RBMXL3(NM_001145346.1):c.1634A>G (p.H545R) - LRCH2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-2678C>A r.(=) p.(=) - likely benign g.114425611G>T g.115191048G>T RBMXL3(NM_001145346.1):c.1607G>T (p.S536I) - LRCH2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.350-2557C>T r.(=) p.(=) - likely benign g.114425490G>A g.115190927G>A RBMXL3(NM_001145346.1):c.1486G>A (p.(Asp496Asn)) - LRCH2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-2471C>G r.(=) p.(=) - likely benign g.114425404G>C g.115190841G>C RBMXL3(NM_001145346.1):c.1400G>C (p.(Gly467Ala)) - LRCH2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.350-2416C>T r.(=) p.(=) - VUS g.114425349G>A g.115190786G>A RBMXL3(NM_001145346.1):c.1345G>A (p.D449N) - LRCH2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-2411C>T r.(=) p.(=) - likely benign g.114425344G>A g.115190781G>A RBMXL3(NM_001145346.1):c.1340G>A (p.R447Q) - LRCH2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-2351C>G r.(=) p.(=) - likely benign g.114425284G>C g.115190721G>C RBMXL3(NM_001145346.1):c.1280G>C (p.(Arg427Pro)) - LRCH2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.350-2351C>T r.(=) p.(=) - VUS g.114425284G>A g.115190721G>A RBMXL3(NM_001145346.1):c.1280G>A (p.(Arg427Gln)) - LRCH2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-2275_350-2274insACTGTGGGTGTCGGGCGAGCGGCCTCC r.(=) p.(=) - VUS g.114425209_114425210insAGGCCGCTCGCCCGACACCCACAGTGG g.115190646_115190647insAGGCCGCTCGCCCGACACCCACAGTGG LRCH2(NM_001243963.1):c.350-2275_350-2274insACTGTGGGTGTCGGGCGAGCGGCCTCC (p.(=)) - LRCH2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-2269G>A r.(=) p.(=) - likely benign g.114425202C>T g.115190639C>T RBMXL3(NM_001145346.1):c.1198C>T (p.H400Y) - LRCH2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-2260_350-2259insTGAGCGGCCTCCGCTGTGGGCGTTGGG r.(=) p.(=) - VUS g.114425195_114425196insAACGCCCACAGCGGAGGCCGCTCACCC g.115190632_115190633insAACGCCCACAGCGGAGGCCGCTCACCC RBMXL3(NM_001145346.1):c.1188_1189insCCCAACGCCCACAGCGGAGGCCGCTCA (p.(Ser396_Pro397insProAsnAlaHisSerGlyGlyArgSer)) - LRCH2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-2259C>T r.(=) p.(=) - VUS g.114425192G>A g.115190629G>A LRCH2(NM_001243963.1):c.350-2259C>T (p.(=)) - LRCH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-2206G>A r.(=) p.(=) - likely benign g.114425139C>T g.115190576C>T RBMXL3(NM_001145346.1):c.1135C>T (p.R379W) - LRCH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-2110C>T r.(=) p.(=) - VUS g.114425043G>A g.115190480G>A RBMXL3(NM_001145346.1):c.1039G>A (p.E347K) - LRCH2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350-1997C>A r.(=) p.(=) - VUS g.114424930G>T g.115190367G>T RBMXL3(NM_001145346.1):c.926G>T (p.G309V) - LRCH2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.350-1801G>A r.(=) p.(=) - likely benign g.114424734C>T g.115190171C>T RBMXL3(NM_001145346.1):c.730C>T (p.(Pro244Ser)) - LRCH2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-1783G>A r.(=) p.(=) - likely benign g.114424716C>T g.115190153C>T RBMXL3(NM_001145346.1):c.712C>T (p.(Arg238Trp)) - LRCH2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.350-1723C>A r.(=) p.(=) - likely benign g.114424656G>T - RBMXL3(NM_001145346.1):c.652G>T (p.G218C) - LRCH2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-1700C>T r.(=) p.(=) - likely benign g.114424633G>A g.115190070G>A RBMXL3(NM_001145346.2):c.629G>A (p.R210Q) - LRCH2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.350-1620C>T r.(=) p.(=) - likely benign g.114424553G>A - RBMXL3(NM_001145346.1):c.549G>A (p.P183=) - LRCH2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-1534G>A r.(=) p.(=) - likely benign g.114424467C>T g.115189904C>T RBMXL3(NM_001145346.1):c.463C>T (p.R155W) - LRCH2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-1496T>C r.(=) p.(=) - likely benign g.114424429A>G g.115189866A>G RBMXL3(NM_001145346.1):c.425A>G (p.(Tyr142Cys)) - LRCH2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-1464G>A r.(=) p.(=) - VUS g.114424397C>T g.115189834C>T LRCH2(NM_001243963.1):c.350-1464G>A (p.(=)) - LRCH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.350-1459C>T r.(=) p.(=) - VUS g.114424392G>A g.115189829G>A RBMXL3(NM_001145346.1):c.388G>A (p.(Gly130Ser)) - LRCH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.350-1156C>T r.(=) p.(=) - likely benign g.114424089G>A g.115189526G>A RBMXL3(NM_001145346.1):c.85G>A (p.G29S) - LRCH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.350-1088C>T r.(=) p.(=) - likely benign g.114424021G>A g.115189458G>A RBMXL3(NM_001145346.1):c.17G>A (p.(Arg6His)) - LRCH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.687G>A r.(=) p.(=) - likely benign g.114414249C>T g.115179686C>T E229E - LRCH2_000040 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.781G>A r.(?) p.(Glu261Lys) - likely benign g.114414073C>T g.115179510C>T LRCH2(NM_001243963.1):c.781G>A (p.(Glu261Lys)) - LRCH2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.781G>A r.(?) p.(Glu261Lys) - VUS g.114414073C>T g.115179510C>T - - LRCH2_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.847C>G r.(?) p.(Gln283Glu) - VUS g.114414007G>C g.115179444G>C LRCH2(NM_001243963.1):c.847C>G (p.(Gln283Glu)) - LRCH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.978C>A r.(?) p.(Pro326=) - likely benign g.114404882G>T g.115170319G>T LRCH2(NM_020871.3):c.978C>A (p.P326=) - LRCH2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1198+86A>C r.(=) p.(=) - VUS g.114400318T>G g.115165755T>G - - LRCH2_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1198+86A>C r.(=) p.(=) - VUS g.114400318T>G g.115165755T>G - - LRCH2_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1628C>T r.(?) p.(Ser543Phe) - VUS g.114384457G>A g.115149894G>A - - LRCH2_000039 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1923T>C r.(=) p.(=) - likely benign g.114357682A>G g.115123119A>G H641H - LRCH2_000038 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2092C>T r.(?) p.(Pro698Ser) - VUS g.114357331G>A g.115122768G>A - - LRCH2_000037 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2092C>T r.(?) p.(Pro698Ser) - likely benign g.114357331G>A g.115122768G>A LRCH2(NM_001243963.1):c.2041C>T (p.(Pro681Ser)) - LRCH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query