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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


226 records found for search term Plch2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15112151CV778864single nucleotide variantNM_014638.4(PLCH2):c.646-4G>Cnot provided [RCV000961248]benign124844442484444Humanname
15115693CV743718single nucleotide variantNM_014638.4(PLCH2):c.2116+8C>Tnot provided [RCV000895073]likely benign124970182497018Humanname
15195290CV758972single nucleotide variantNM_014638.4(PLCH2):c.2581+9G>Anot provided [RCV000911373]likely benign124992392499239Humanname
15178235CV777127single nucleotide variantNM_014638.4(PLCH2):c.1836-7G>Anot provided [RCV000951230]likely benign124966002496600Humanname
15160838CV778784single nucleotide variantNM_014638.4(PLCH2):c.911-10C>Tnot provided [RCV000969979]benign124871632487163Humanname
15110542CV787050single nucleotide variantNM_014638.4(PLCH2):c.1660-7G>Anot provided [RCV000977460]likely benign124948492494849Humanname
150476925CV1279357single nucleotide variantNM_014638.4(PLCH2):c.1516-17G>Anot provided [RCV001714059]benign124911752491175Humanname
401935261CV2805559single nucleotide variantNM_014638.4(PLCH2):c.2959+323C>Tnot provided [RCV003412684]likely benign125027322502732Humanname
15183181CV707271single nucleotide variantNM_014638.4(PLCH2):c.18C>T (p.Pro6=)not provided [RCV000974815]benign124766062476606Humanname
155904670CV2298842single nucleotide variantNM_014638.4(PLCH2):c.7G>T (p.Gly3Cys)not specified [RCV004156390]uncertain significance124765952476595Humanname
15165181CV777093duplicationNM_014638.4(PLCH2):c.2349+1_2349+9dupnot provided [RCV000948527]benign124986472498648Humanname
401758166CV2678250single nucleotide variantNM_014638.4(PLCH2):c.22C>T (p.Pro8Ser)not specified [RCV004290252]uncertain significance124766102476610Humanname
42723670CV984549single nucleotide variantNM_014638.4(PLCH2):c.15G>A (p.Trp5Ter)See cases [RCV001291658]uncertain significance124766032476603Humanname
155993170CV2381719single nucleotide variantNM_014638.4(PLCH2):c.44C>T (p.Thr15Met)not specified [RCV004232177]uncertain significance124766322476632Humanname
156047865CV2382574single nucleotide variantNM_014638.4(PLCH2):c.31C>T (p.Arg11Trp)not specified [RCV004232902]uncertain significance124766192476619Humanname
401889471CV2756609single nucleotide variantNM_014638.4(PLCH2):c.59C>T (p.Ala20Val)not specified [RCV004345131]uncertain significance124766472476647Humanname
401935258CV2805556single nucleotide variantNM_014638.4(PLCH2):c.895C>T (p.Leu299=)not provided [RCV003412681]likely benign124869852486985Humanname
597727515CV3580025single nucleotide variantNM_014638.4(PLCH2):c.32G>A (p.Arg11Gln)not specified [RCV004842545]uncertain significance124766202476620Humanname
597767989CV3580031single nucleotide variantNM_014638.4(PLCH2):c.85A>T (p.Ser29Cys)not specified [RCV004850598]uncertain significance124766732476673Humanname
15184824CV696645single nucleotide variantNM_014638.4(PLCH2):c.576C>T (p.Gly192=)not provided [RCV000952802]benign124802432480243Humanname
15110002CV707272single nucleotide variantNM_014638.4(PLCH2):c.83G>C (p.Gly28Ala)not provided [RCV000960815]benign124766712476671Humanname
15107432CV718862single nucleotide variantNM_014638.4(PLCH2):c.378C>T (p.His126=)not provided [RCV000893477]benign124798402479840Humanname
15124561CV732337single nucleotide variantNM_014638.4(PLCH2):c.834C>T (p.Leu278=)not provided [RCV000896614]likely benign124869242486924Humanname
156382112CV2212582single nucleotide variantNM_014638.4(PLCH2):c.277A>G (p.Ile93Val)not specified [RCV004091447]uncertain significance124797392479739Humanname
155939030CV2225294single nucleotide variantNM_014638.4(PLCH2):c.118C>G (p.Pro40Ala)not specified [RCV004098937]uncertain significance124767062476706Humanname
401890549CV2768300single nucleotide variantNM_014638.4(PLCH2):c.175C>T (p.Arg59Cys)not specified [RCV004350284]uncertain significance124785262478526Humanname
401872972CV2793174single nucleotide variantNM_014638.4(PLCH2):c.176G>A (p.Arg59His)not specified [RCV004360482]uncertain significance124785272478527Humanname
401935259CV2805557single nucleotide variantNM_014638.4(PLCH2):c.2181C>T (p.Asn727=)not provided [RCV003412682]likely benign124975662497566Humanname
401935260CV2805558single nucleotide variantNM_014638.4(PLCH2):c.2484G>A (p.Pro828=)not provided [RCV003412683]likely benign124991332499133Humanname
405664715CV3372894single nucleotide variantNM_014638.4(PLCH2):c.220C>T (p.His74Tyr)not specified [RCV004513908]uncertain significance124785712478571Humanname
598207052CV3997049single nucleotide variantNM_014638.4(PLCH2):c.227C>T (p.Ser76Phe)not specified [RCV005399755]uncertain significance124785782478578Humanname
15194449CV696650single nucleotide variantNM_014638.4(PLCH2):c.1257C>T (p.Ile419=)not provided [RCV000955651]benign|likely benign124892282489228Human1name
15194449CV696650single nucleotide variantNM_014638.4(PLCH2):c.1257C>T (p.Ile419=)not provided [RCV000955651]benign|likely benign124892282489229Human1name
15189048CV696651single nucleotide variantNM_014638.4(PLCH2):c.1488C>T (p.Asp496=)not provided [RCV000954061]benign124898402489840Humanname
15185906CV696654single nucleotide variantNM_014638.4(PLCH2):c.2418C>T (p.Arg806=)not provided [RCV000953123]benign124988122498812Humanname
15168065CV718864single nucleotide variantNM_014638.4(PLCH2):c.2601A>G (p.Leu867=)not provided [RCV000882984]benign124996602499660Humanname
15168071CV718865single nucleotide variantNM_014638.4(PLCH2):c.2604A>G (p.Glu868=)not provided [RCV000882985]benign124996632499663Humanname
15154287CV732338single nucleotide variantNM_014638.4(PLCH2):c.2319G>A (p.Pro773=)not provided [RCV000901925]likely benign124986172498617Humanname
15131608CV780651single nucleotide variantNM_014638.4(PLCH2):c.2983C>A (p.Arg995=)not provided [RCV000981240]likely benign125039452503945Humanname
155979308CV2215172single nucleotide variantNM_014638.4(PLCH2):c.494G>A (p.Arg165His)not specified [RCV004086889]uncertain significance124799562479956Humanname
156328244CV2217441single nucleotide variantNM_014638.4(PLCH2):c.452G>T (p.Arg151Leu)not specified [RCV004087866]uncertain significance124799142479914Humanname
156032481CV2275024single nucleotide variantNM_014638.4(PLCH2):c.736C>G (p.Leu246Val)not specified [RCV004135064]uncertain significance124845382484538Humanname
156150555CV2318668single nucleotide variantNM_014638.4(PLCH2):c.691T>C (p.Phe231Leu)not specified [RCV004173563]uncertain significance124844932484493Humanname
156291011CV2342794single nucleotide variantNM_014638.4(PLCH2):c.349G>A (p.Asp117Asn)not specified [RCV004189835]uncertain significance124798112479811Humanname
156346394CV2353527single nucleotide variantNM_014638.4(PLCH2):c.393G>T (p.Glu131Asp)not specified [RCV004199511]uncertain significance124798552479855Humanname
156256064CV2359538single nucleotide variantNM_014638.4(PLCH2):c.553G>A (p.Gly185Arg)not specified [RCV004214846]uncertain significance124802202480220Humanname
155932588CV2364423single nucleotide variantNM_014638.4(PLCH2):c.395C>T (p.Ser132Leu)not specified [RCV004223632]uncertain significance124798572479857Humanname
156259281CV2366262single nucleotide variantNM_014638.4(PLCH2):c.710T>C (p.Met237Thr)not specified [RCV004210278]uncertain significance124845122484512Humanname
156384766CV2371592single nucleotide variantNM_014638.4(PLCH2):c.694T>C (p.Cys232Arg)not specified [RCV004216839]uncertain significance124844962484496Humanname
156076837CV2375063single nucleotide variantNM_014638.4(PLCH2):c.451C>T (p.Arg151Cys)not specified [RCV004230111]uncertain significance124799132479913Humanname
156389664CV2380711single nucleotide variantNM_014638.4(PLCH2):c.565C>A (p.Leu189Met)not specified [RCV004218289]uncertain significance124802322480232Humanname
329357094CV2457534single nucleotide variantNM_014638.4(PLCH2):c.600G>C (p.Lys200Asn)not specified [RCV004267342]uncertain significance124802672480267Humanname
401757612CV2675413single nucleotide variantNM_014638.4(PLCH2):c.909T>G (p.Asp303Glu)not specified [RCV004292214]uncertain significance124869992486999Humanname
401750430CV2715634single nucleotide variantNM_014638.4(PLCH2):c.892G>A (p.Gly298Arg)not specified [RCV004327016]uncertain significance124869822486982Humanname
401895549CV2770728single nucleotide variantNM_014638.4(PLCH2):c.620G>A (p.Arg207Gln)not specified [RCV004349772]uncertain significance124802872480287Humanname
401935262CV2805560single nucleotide variantNM_014638.4(PLCH2):c.3609C>T (p.Asn1203=)not provided [RCV003412685]likely benign125045712504571Humanname
405664841CV3372919single nucleotide variantNM_014638.4(PLCH2):c.624G>C (p.Gln208His)not specified [RCV004513933]uncertain significance124802912480291Humanname
405664846CV3372920single nucleotide variantNM_014638.4(PLCH2):c.674C>T (p.Thr225Met)not specified [RCV004513934]uncertain significance124844762484476Humanname
405664850CV3372921single nucleotide variantNM_014638.4(PLCH2):c.818T>C (p.Met273Thr)not specified [RCV004513935]uncertain significance124869082486908Humanname
405664854CV3372922single nucleotide variantNM_014638.4(PLCH2):c.835G>A (p.Glu279Lys)not specified [RCV004513936]uncertain significance124869252486925Humanname
405664858CV3372923single nucleotide variantNM_014638.4(PLCH2):c.893G>A (p.Gly298Glu)not specified [RCV004513937]uncertain significance124869832486983Humanname
405664862CV3372924single nucleotide variantNM_014638.4(PLCH2):c.935C>T (p.Pro312Leu)not specified [RCV004513938]uncertain significance124871972487197Humanname
407518857CV3470933single nucleotide variantNM_014638.4(PLCH2):c.379G>A (p.Gly127Ser)not specified [RCV004651166]uncertain significance124798412479841Humanname
407518859CV3470934single nucleotide variantNM_014638.4(PLCH2):c.779C>G (p.Ala260Gly)not specified [RCV004651167]uncertain significance124845812484581Humanname
596947992CV3547583single nucleotide variantNM_014638.4(PLCH2):c.4152C>T (p.Ser1384=)not provided [RCV004811887]likely benign125051142505114Humanname
597727488CV3580021single nucleotide variantNM_014638.4(PLCH2):c.388C>T (p.Arg130Cys)not specified [RCV004842542]uncertain significance124798502479850Humanname
597767980CV3580022single nucleotide variantNM_014638.4(PLCH2):c.572T>C (p.Ile191Thr)not specified [RCV004850596]uncertain significance124802392480239Humanname
597767985CV3580026single nucleotide variantNM_014638.4(PLCH2):c.452G>A (p.Arg151His)not specified [RCV004850597]uncertain significance124799142479914Humanname
597727532CV3580028single nucleotide variantNM_014638.4(PLCH2):c.607G>A (p.Val203Met)not specified [RCV004842547]uncertain significance124802742480274Humanname
597727572CV3580033single nucleotide variantNM_014638.4(PLCH2):c.391G>A (p.Glu131Lys)not specified [RCV004842551]uncertain significance124798532479853Humanname
597727646CV3580044single nucleotide variantNM_014638.4(PLCH2):c.308G>A (p.Arg103Gln)not specified [RCV004842559]uncertain significance124797702479770Humanname
598206973CV3997035single nucleotide variantNM_014638.4(PLCH2):c.619C>T (p.Arg207Trp)not specified [RCV005399741]uncertain significance124802862480286Humanname
598207029CV3997045single nucleotide variantNM_014638.4(PLCH2):c.502C>T (p.Arg168Cys)not specified [RCV005399751]uncertain significance124799642479964Humanname
598207041CV3997047single nucleotide variantNM_014638.4(PLCH2):c.885G>C (p.Lys295Asn)not specified [RCV005399753]uncertain significance124869752486975Humanname
15124414CV707280single nucleotide variantNM_014638.4(PLCH2):c.3870G>A (p.Ser1290=)not provided [RCV000963412]benign125048322504832Humanname
15182667CV718863single nucleotide variantNM_014638.4(PLCH2):c.475G>A (p.Asp159Asn)not provided [RCV000886045]benign124799372479937Humanname
15178627CV718866single nucleotide variantNM_014638.4(PLCH2):c.3348A>G (p.Pro1116=)not provided [RCV000885105]likely benign125043102504310Humanname
156145376CV2196794single nucleotide variantNM_014638.4(PLCH2):c.1303C>G (p.Leu435Val)not specified [RCV004069808]uncertain significance124892742489274Humanname
156320683CV2197371single nucleotide variantNM_014638.4(PLCH2):c.2876T>C (p.Val959Ala)not specified [RCV004081113]likely benign125023262502326Humanname
156068966CV2203741single nucleotide variantNM_014638.4(PLCH2):c.2945G>C (p.Ser982Thr)not specified [RCV004074385]uncertain significance125023952502395Humanname
156138891CV2212003single nucleotide variantNM_014638.4(PLCH2):c.1654C>T (p.Arg552Cys)not specified [RCV004088918]uncertain significance124913302491330Humanname
156123232CV2233975single nucleotide variantNM_014638.4(PLCH2):c.1575C>G (p.Ile525Met)not specified [RCV004104314]uncertain significance124912512491251Humanname
155989418CV2244248single nucleotide variantNM_014638.4(PLCH2):c.2752C>T (p.Arg918Trp)not specified [RCV004100246]uncertain significance125022022502202Humanname
156139138CV2250389single nucleotide variantNM_014638.4(PLCH2):c.1633T>A (p.Ser545Thr)not specified [RCV004127272]uncertain significance124913092491309Humanname
155919044CV2279340single nucleotide variantNM_014638.4(PLCH2):c.2779C>T (p.Arg927Trp)not specified [RCV004139854]uncertain significance125022292502229Humanname
156269637CV2293296single nucleotide variantNM_014638.4(PLCH2):c.2996C>A (p.Pro999Gln)not specified [RCV004150785]uncertain significance125039582503958Humanname
156046194CV2308139single nucleotide variantNM_014638.4(PLCH2):c.2483C>T (p.Pro828Leu)not specified [RCV004164377]uncertain significance124991322499132Humanname
156276691CV2316554single nucleotide variantNM_014638.4(PLCH2):c.2681T>C (p.Leu894Pro)not specified [RCV004170016]uncertain significance125021312502131Humanname
156050511CV2323281single nucleotide variantNM_014638.4(PLCH2):c.1814C>G (p.Ser605Cys)not specified [RCV004171697]uncertain significance124955492495549Humanname
156160610CV2323375single nucleotide variantNM_014638.4(PLCH2):c.1277T>A (p.Ile426Asn)not specified [RCV004171773]uncertain significance124892482489248Humanname
155919475CV2333202single nucleotide variantNM_014638.4(PLCH2):c.2915C>T (p.Pro972Leu)not specified [RCV004194490]likely benign125023652502365Humanname
155916607CV2336174single nucleotide variantNM_014638.4(PLCH2):c.2920G>A (p.Ala974Thr)not specified [RCV004189767]uncertain significance125023702502370Humanname
155977005CV2338697single nucleotide variantNM_014638.4(PLCH2):c.1699G>A (p.Gly567Arg)not specified [RCV004182272]uncertain significance124948952494895Humanname
156221518CV2343852single nucleotide variantNM_014638.4(PLCH2):c.1135G>A (p.Asp379Asn)not specified [RCV004193436]uncertain significance124876182487618Humanname
155989944CV2352300single nucleotide variantNM_014638.4(PLCH2):c.2386C>T (p.Leu796Phe)not specified [RCV004200775]uncertain significance124987802498780Humanname
156142520CV2358501single nucleotide variantNM_014638.4(PLCH2):c.2003C>T (p.Ala668Val)not specified [RCV004207386]uncertain significance124968972496897Humanname
155933858CV2372350single nucleotide variantNM_014638.4(PLCH2):c.1955C>T (p.Ser652Leu)not specified [RCV004217117]uncertain significance124968492496849Humanname
156153917CV2374887single nucleotide variantNM_014638.4(PLCH2):c.1817C>T (p.Pro606Leu)not specified [RCV004227912]uncertain significance124955522495552Humanname
156213671CV2385864single nucleotide variantNM_014638.4(PLCH2):c.2953C>T (p.Pro985Ser)not specified [RCV004226908]uncertain significance125024032502403Humanname
156155726CV2388806single nucleotide variantNM_014638.4(PLCH2):c.2855G>A (p.Arg952Gln)not specified [RCV004239660]likely benign125023052502305Humanname
329382601CV2424496single nucleotide variantNM_014638.4(PLCH2):c.2144G>A (p.Arg715Gln)not specified [RCV004252384]uncertain significance124975292497529Humanname
329390936CV2437450single nucleotide variantNM_014638.4(PLCH2):c.1583C>T (p.Ser528Leu)not specified [RCV004256315]uncertain significance124912592491259Humanname
329359816CV2446426single nucleotide variantNM_014638.4(PLCH2):c.2941G>A (p.Gly981Ser)not specified [RCV004249544]likely benign125023912502391Humanname
329402235CV2454077single nucleotide variantNM_014638.4(PLCH2):c.1927A>C (p.Met643Leu)not specified [RCV004265585]uncertain significance124966982496698Humanname
329377088CV2456908single nucleotide variantNM_014638.4(PLCH2):c.2198T>G (p.Val733Gly)not specified [RCV004270863]uncertain significance124975832497583Humanname
401732535CV2675112single nucleotide variantNM_014638.4(PLCH2):c.2932G>C (p.Glu978Gln)not specified [RCV004289892]uncertain significance125023822502382Humanname
401724697CV2677961single nucleotide variantNM_014638.4(PLCH2):c.2000C>T (p.Pro667Leu)not specified [RCV004296494]uncertain significance124968942496894Humanname
401726530CV2695712single nucleotide variantNM_014638.4(PLCH2):c.1687G>A (p.Gly563Arg)not specified [RCV004299514]uncertain significance124948832494883Humanname
401752340CV2706976single nucleotide variantNM_014638.4(PLCH2):c.1817C>G (p.Pro606Arg)not specified [RCV004321577]uncertain significance124955522495552Humanname
401772611CV2719695single nucleotide variantNM_014638.4(PLCH2):c.1937C>T (p.Ala646Val)not specified [RCV004329136]likely benign124968312496831Humanname
401783864CV2724322single nucleotide variantNM_014638.4(PLCH2):c.2550G>C (p.Gln850His)not specified [RCV004328185]uncertain significance124991992499199Humanname
401780326CV2725995single nucleotide variantNM_014638.4(PLCH2):c.1748G>A (p.Arg583His)not specified [RCV004324359]uncertain significance124949442494944Humanname
401890056CV2755350single nucleotide variantNM_014638.4(PLCH2):c.1517C>T (p.Ala506Val)not specified [RCV004337516]uncertain significance124911932491193Humanname
401893227CV2755351single nucleotide variantNM_014638.4(PLCH2):c.2917G>A (p.Glu973Lys)not specified [RCV004337517]uncertain significance125023672502367Humanname
401870580CV2755906single nucleotide variantNM_014638.4(PLCH2):c.1870C>T (p.Arg624Trp)not specified [RCV004335995]uncertain significance124966412496641Humanname
401889067CV2761731single nucleotide variantNM_014638.4(PLCH2):c.1838C>T (p.Ala613Val)not specified [RCV004337341]uncertain significance124966092496609Humanname
401880914CV2763180single nucleotide variantNM_014638.4(PLCH2):c.1380G>T (p.Gln460His)not specified [RCV004336220]uncertain significance124893512489351Humanname
401880067CV2769894single nucleotide variantNM_014638.4(PLCH2):c.2857G>A (p.Asp953Asn)not specified [RCV004353741]uncertain significance125023072502307Humanname
405664679CV3372886single nucleotide variantNM_014638.4(PLCH2):c.1136A>G (p.Asp379Gly)not specified [RCV004513900]uncertain significance124876192487619Humanname
405664684CV3372887single nucleotide variantNM_014638.4(PLCH2):c.1489G>A (p.Asp497Asn)not specified [RCV004513901]uncertain significance124898412489841Humanname
405664688CV3372888single nucleotide variantNM_014638.4(PLCH2):c.1489G>C (p.Asp497His)not specified [RCV004513902]uncertain significance124898412489841Humanname
405664693CV3372889single nucleotide variantNM_014638.4(PLCH2):c.1639T>C (p.Ser547Pro)not specified [RCV004513903]uncertain significance124913152491315Humanname
405664698CV3372890single nucleotide variantNM_014638.4(PLCH2):c.1655G>A (p.Arg552His)not specified [RCV004513904]likely benign124913312491331Humanname
405664706CV3372892single nucleotide variantNM_014638.4(PLCH2):c.1798G>A (p.Asp600Asn)not specified [RCV004513906]uncertain significance124955332495533Humanname
405664710CV3372893single nucleotide variantNM_014638.4(PLCH2):c.2014C>T (p.Arg672Cys)not specified [RCV004513907]uncertain significance124969082496908Humanname
405664720CV3372895single nucleotide variantNM_014638.4(PLCH2):c.2260G>A (p.Gly754Arg)not specified [RCV004513909]uncertain significance124985582498558Humanname
405664726CV3372896single nucleotide variantNM_014638.4(PLCH2):c.2417G>A (p.Arg806His)not specified [RCV004513910]uncertain significance124988112498811Humanname
405664729CV3372897single nucleotide variantNM_014638.4(PLCH2):c.2771G>A (p.Arg924Gln)not specified [RCV004513911]uncertain significance125022212502221Humanname
405664742CV3372899single nucleotide variantNM_014638.4(PLCH2):c.2883C>A (p.Asp961Glu)not specified [RCV004513913]uncertain significance125023332502333Humanname
405664754CV3372901single nucleotide variantNM_014638.4(PLCH2):c.2950A>C (p.Ser984Arg)not specified [RCV004513915]uncertain significance125024002502400Humanname
405664759CV3372902single nucleotide variantNM_014638.4(PLCH2):c.2978C>T (p.Thr993Met)not specified [RCV004513916]likely benign125039402503940Humanname
405664765CV3372903single nucleotide variantNM_014638.4(PLCH2):c.2995C>G (p.Pro999Ala)not specified [RCV004513917]likely benign125039572503957Humanname
407470664CV3470931single nucleotide variantNM_014638.4(PLCH2):c.2143C>T (p.Arg715Trp)not specified [RCV004662048]uncertain significance124975282497528Humanname
407518861CV3470937single nucleotide variantNM_014638.4(PLCH2):c.1928T>G (p.Met643Arg)not specified [RCV004651168]uncertain significance124966992496699Humanname
597727469CV3580019single nucleotide variantNM_014638.4(PLCH2):c.2176G>A (p.Ala726Thr)not specified [RCV004842540]uncertain significance124975612497561Humanname
597727478CV3580020single nucleotide variantNM_014638.4(PLCH2):c.2656G>A (p.Gly886Ser)not specified [RCV004842541]uncertain significance124997152499715Humanname
597727553CV3580030single nucleotide variantNM_014638.4(PLCH2):c.2084C>T (p.Pro695Leu)not specified [RCV004842549]uncertain significance124969782496978Humanname
597727564CV3580032single nucleotide variantNM_014638.4(PLCH2):c.2995C>A (p.Pro999Thr)not specified [RCV004842550]uncertain significance125039572503957Humanname
597727581CV3580034single nucleotide variantNM_014638.4(PLCH2):c.2918A>G (p.Glu973Gly)not specified [RCV004842552]uncertain significance125023682502368Humanname
597767995CV3580037single nucleotide variantNM_014638.4(PLCH2):c.1574T>C (p.Ile525Thr)not specified [RCV004850599]uncertain significance124912502491250Humanname
597727629CV3580040single nucleotide variantNM_014638.4(PLCH2):c.2893C>A (p.Pro965Thr)not specified [RCV004842557]uncertain significance125023432502343Humanname
597768000CV3580043single nucleotide variantNM_014638.4(PLCH2):c.2282T>C (p.Val761Ala)not specified [RCV004850600]uncertain significance124985802498580Humanname
597727656CV3580046single nucleotide variantNM_014638.4(PLCH2):c.2663T>G (p.Val888Gly)not specified [RCV004842560]uncertain significance125021132502113Humanname
598206957CV3997032single nucleotide variantNM_014638.4(PLCH2):c.2954C>T (p.Pro985Leu)not specified [RCV005399738]uncertain significance125024042502404Humanname
598206967CV3997034single nucleotide variantNM_014638.4(PLCH2):c.1729G>A (p.Val577Met)not specified [RCV005399740]likely benign124949252494925Humanname
598206989CV3997038single nucleotide variantNM_014638.4(PLCH2):c.1258G>A (p.Glu420Lys)not specified [RCV005399744]uncertain significance124892292489229Humanname
598206996CV3997039single nucleotide variantNM_014638.4(PLCH2):c.2899G>A (p.Gly967Arg)not specified [RCV005399745]uncertain significance125023492502349Humanname
598207002CV3997040single nucleotide variantNM_014638.4(PLCH2):c.2227G>A (p.Val743Met)not specified [RCV005399746]likely benign124985252498525Humanname
598207007CV3997041single nucleotide variantNM_014638.4(PLCH2):c.1016C>T (p.Ser339Leu)not specified [RCV005399747]uncertain significance124872782487278Humanname
598207013CV3997042single nucleotide variantNM_014638.4(PLCH2):c.1523C>T (p.Thr508Ile)not specified [RCV005399748]uncertain significance124911992491199Humanname
598207046CV3997048single nucleotide variantNM_014638.4(PLCH2):c.2807G>A (p.Ser936Asn)not specified [RCV005399754]uncertain significance125022572502257Humanname
15170395CV696652single nucleotide variantNM_014638.4(PLCH2):c.1535G>A (p.Arg512His)not provided [RCV000949642]likely benign124912112491211Humanname
156167818CV2201051single nucleotide variantNM_014638.4(PLCH2):c.3787G>C (p.Asp1263His)not specified [RCV004074813]uncertain significance125047492504749Humanname
156257010CV2204548single nucleotide variantNM_014638.4(PLCH2):c.4009C>T (p.Arg1337Cys)not specified [RCV004081662]uncertain significance125049712504971Humanname
156278342CV2210038single nucleotide variantNM_014638.4(PLCH2):c.3427G>A (p.Val1143Ile)not specified [RCV004076469]uncertain significance125043892504389Humanname
156376366CV2210555single nucleotide variantNM_014638.4(PLCH2):c.3247C>T (p.Arg1083Trp)not specified [RCV004083363]uncertain significance125042092504209Humanname
155926923CV2230705single nucleotide variantNM_014638.4(PLCH2):c.3574C>T (p.Pro1192Ser)not specified [RCV004097650]uncertain significance125045362504536Humanname
156186031CV2232604single nucleotide variantNM_014638.4(PLCH2):c.3848C>T (p.Pro1283Leu)not specified [RCV004101280]likely benign125048102504810Humanname
156270972CV2237080single nucleotide variantNM_014638.4(PLCH2):c.3059C>G (p.Ala1020Gly)not specified [RCV004114840]uncertain significance125040212504021Humanname
155922734CV2251758single nucleotide variantNM_014638.4(PLCH2):c.3529A>G (p.Met1177Val)not specified [RCV004119754]likely benign125044912504491Humanname
156097159CV2253165single nucleotide variantNM_014638.4(PLCH2):c.3170G>A (p.Arg1057Gln)not specified [RCV004120934]likely benign125041322504132Humanname
156310293CV2260023single nucleotide variantNM_014638.4(PLCH2):c.4204G>C (p.Gly1402Arg)not specified [RCV004119036]uncertain significance125051662505166Humanname
156247886CV2276928single nucleotide variantNM_014638.4(PLCH2):c.3655C>A (p.Leu1219Met)not specified [RCV004140265]uncertain significance125046172504617Humanname
156273809CV2283915single nucleotide variantNM_014638.4(PLCH2):c.3444C>G (p.Ser1148Arg)not specified [RCV004142416]uncertain significance125044062504406Humanname
156250619CV2286736single nucleotide variantNM_014638.4(PLCH2):c.3635G>A (p.Arg1212Gln)not specified [RCV004142556]uncertain significance125045972504597Humanname
156000319CV2287366single nucleotide variantNM_014638.4(PLCH2):c.3248G>A (p.Arg1083Gln)not specified [RCV004146979]uncertain significance125042102504210Humanname
156304007CV2308535single nucleotide variantNM_014638.4(PLCH2):c.3751G>A (p.Ala1251Thr)not specified [RCV004166812]uncertain significance125047132504713Humanname
156166435CV2319938single nucleotide variantNM_014638.4(PLCH2):c.3499C>T (p.Arg1167Cys)not specified [RCV004167816]uncertain significance125044612504461Humanname
156157782CV2322600single nucleotide variantNM_014638.4(PLCH2):c.3830G>A (p.Ser1277Asn)not specified [RCV004182744]uncertain significance125047922504792Humanname
156351635CV2323800single nucleotide variantNM_014638.4(PLCH2):c.3328C>T (p.Pro1110Ser)not specified [RCV004176344]uncertain significance125042902504290Humanname
155901382CV2345796single nucleotide variantNM_014638.4(PLCH2):c.4138G>A (p.Glu1380Lys)not specified [RCV004205722]uncertain significance125051002505100Humanname
156231849CV2346060single nucleotide variantNM_014638.4(PLCH2):c.3397C>T (p.Arg1133Trp)not specified [RCV004201534]uncertain significance125043592504359Humanname
156256122CV2359546single nucleotide variantNM_014638.4(PLCH2):c.4055G>A (p.Arg1352Gln)not specified [RCV004214854]uncertain significance125050172505017Humanname
156282157CV2363102single nucleotide variantNM_014638.4(PLCH2):c.4054C>T (p.Arg1352Trp)not specified [RCV004211227]uncertain significance125050162505016Humanname
156385481CV2364477single nucleotide variantNM_014638.4(PLCH2):c.3089G>A (p.Arg1030Gln)not specified [RCV004217347]uncertain significance125040512504051Humanname
156073544CV2365460single nucleotide variantNM_014638.4(PLCH2):c.3911G>A (p.Arg1304His)not specified [RCV004209534]uncertain significance125048732504873Humanname
156056948CV2371175single nucleotide variantNM_014638.4(PLCH2):c.4052G>A (p.Ser1351Asn)not specified [RCV004220921]uncertain significance125050142505014Humanname
156151938CV2377591single nucleotide variantNM_014638.4(PLCH2):c.4166G>A (p.Gly1389Asp)not specified [RCV004227781]uncertain significance125051282505128Humanname
156042234CV2381438single nucleotide variantNM_014638.4(PLCH2):c.4244G>A (p.Arg1415His)not specified [RCV004229926]uncertain significance125052062505206Humanname
155904620CV2385559single nucleotide variantNM_014638.4(PLCH2):c.3217G>A (p.Gly1073Ser)not specified [RCV004233198]likely benign125041792504179Humanname
156007108CV2401274single nucleotide variantNM_014638.4(PLCH2):c.3991G>A (p.Gly1331Ser)not specified [RCV004245821]uncertain significance125049532504953Humanname
329367228CV2427283single nucleotide variantNM_014638.4(PLCH2):c.3205G>A (p.Glu1069Lys)not specified [RCV004248147]uncertain significance125041672504167Humanname
329396783CV2459096single nucleotide variantNM_014638.4(PLCH2):c.3754G>A (p.Ala1252Thr)not specified [RCV004272558]uncertain significance125047162504716Humanname
401759745CV2698613single nucleotide variantNM_014638.4(PLCH2):c.3821G>A (p.Arg1274His)not specified [RCV004299090]uncertain significance125047832504783Humanname
401771172CV2700908single nucleotide variantNM_014638.4(PLCH2):c.3559G>A (p.Ala1187Thr)not specified [RCV004307173]uncertain significance125045212504521Humanname
401728513CV2729617single nucleotide variantNM_014638.4(PLCH2):c.3859C>T (p.Arg1287Trp)not specified [RCV004331880]uncertain significance125048212504821Humanname
401879398CV2791571single nucleotide variantNM_014638.4(PLCH2):c.3818C>T (p.Ser1273Phe)not specified [RCV004358943]uncertain significance125047802504780Humanname
401935263CV2805561single nucleotide variantNM_014638.4(PLCH2):c.4088T>G (p.Leu1363Arg)not provided [RCV003412686]likely benign125050502505050Humanname
405664771CV3372904single nucleotide variantNM_014638.4(PLCH2):c.3113G>A (p.Gly1038Glu)not specified [RCV004513918]uncertain significance125040752504075Humanname
405664775CV3372905single nucleotide variantNM_014638.4(PLCH2):c.3181G>A (p.Gly1061Ser)not specified [RCV004513919]uncertain significance125041432504143Humanname
405664779CV3372906single nucleotide variantNM_014638.4(PLCH2):c.3367G>A (p.Asp1123Asn)not specified [RCV004513920]uncertain significance125043292504329Humanname
405664784CV3372907single nucleotide variantNM_014638.4(PLCH2):c.3416A>G (p.His1139Arg)not specified [RCV004513921]uncertain significance125043782504378Humanname
405664787CV3372908single nucleotide variantNM_014638.4(PLCH2):c.3506G>A (p.Arg1169His)not specified [RCV004513922]uncertain significance125044682504468Humanname
405664793CV3372909single nucleotide variantNM_014638.4(PLCH2):c.3509A>G (p.Glu1170Gly)not specified [RCV004513923]uncertain significance125044712504471Humanname
405664799CV3372910single nucleotide variantNM_014638.4(PLCH2):c.3604T>A (p.Ser1202Thr)not specified [RCV004513924]uncertain significance125045662504566Humanname
405664803CV3372911single nucleotide variantNM_014638.4(PLCH2):c.3610C>T (p.Pro1204Ser)not specified [RCV004513925]uncertain significance125045722504572Humanname
405664808CV3372912single nucleotide variantNM_014638.4(PLCH2):c.3623C>T (p.Ala1208Val)not specified [RCV004513926]uncertain significance125045852504585Humanname
405664812CV3372913single nucleotide variantNM_014638.4(PLCH2):c.3713G>A (p.Gly1238Asp)not specified [RCV004513927]uncertain significance125046752504675Humanname
405664817CV3372914single nucleotide variantNM_014638.4(PLCH2):c.3901G>C (p.Glu1301Gln)not specified [RCV004513928]uncertain significance125048632504863Humanname
405664821CV3372915single nucleotide variantNM_014638.4(PLCH2):c.3950C>T (p.Ser1317Leu)not specified [RCV004513929]uncertain significance125049122504912Humanname
405664825CV3372916single nucleotide variantNM_014638.4(PLCH2):c.4040G>A (p.Arg1347His)not specified [RCV004513930]uncertain significance125050022505002Humanname
405664830CV3372917single nucleotide variantNM_014638.4(PLCH2):c.4109G>C (p.Gly1370Ala)not specified [RCV004513931]uncertain significance125050712505071Humanname
405664836CV3372918single nucleotide variantNM_014638.4(PLCH2):c.4153G>A (p.Val1385Met)not specified [RCV004513932]uncertain significance125051152505115Humanname
407518856CV3470932single nucleotide variantNM_014638.4(PLCH2):c.3227C>T (p.Thr1076Met)not specified [RCV004651165]uncertain significance125041892504189Humanname
407470452CV3470935single nucleotide variantNM_014638.4(PLCH2):c.3958A>G (p.Ser1320Gly)not specified [RCV004662049]uncertain significance125049202504920Humanname
407470456CV3470936single nucleotide variantNM_014638.4(PLCH2):c.3566C>G (p.Ala1189Gly)not specified [RCV004662050]uncertain significance125045282504528Humanname
407470460CV3470938single nucleotide variantNM_014638.4(PLCH2):c.3652G>A (p.Glu1218Lys)not specified [RCV004662051]uncertain significance125046142504614Humanname
597727498CV3580023single nucleotide variantNM_014638.4(PLCH2):c.3860G>A (p.Arg1287Gln)not specified [RCV004842543]uncertain significance125048222504822Humanname
597727506CV3580024single nucleotide variantNM_014638.4(PLCH2):c.4072G>A (p.Glu1358Lys)not specified [RCV004842544]uncertain significance125050342505034Humanname
597727523CV3580027single nucleotide variantNM_014638.4(PLCH2):c.3863G>A (p.Arg1288Gln)not specified [RCV004842546]likely benign125048252504825Humanname
597727542CV3580029single nucleotide variantNM_014638.4(PLCH2):c.3682A>T (p.Met1228Leu)not specified [RCV004842548]uncertain significance125046442504644Humanname
597727591CV3580035single nucleotide variantNM_014638.4(PLCH2):c.4217C>T (p.Ala1406Val)not specified [RCV004842553]likely benign125051792505179Humanname
597727599CV3580036single nucleotide variantNM_014638.4(PLCH2):c.4030A>G (p.Ser1344Gly)not specified [RCV004842554]uncertain significance125049922504992Humanname
597727609CV3580038single nucleotide variantNM_014638.4(PLCH2):c.3331C>G (p.Leu1111Val)not specified [RCV004842555]uncertain significance125042932504293Humanname
597727617CV3580039single nucleotide variantNM_014638.4(PLCH2):c.3554A>G (p.His1185Arg)not specified [RCV004842556]uncertain significance125045162504516Humanname
597727637CV3580042single nucleotide variantNM_014638.4(PLCH2):c.3596A>G (p.Lys1199Arg)not specified [RCV004842558]uncertain significance125045582504558Humanname
597768005CV3580045single nucleotide variantNM_014638.4(PLCH2):c.3041C>T (p.Pro1014Leu)not specified [RCV004850601]uncertain significance125040032504003Humanname
598206945CV3997030single nucleotide variantNM_014638.4(PLCH2):c.3173C>T (p.Pro1058Leu)not specified [RCV005399736]uncertain significance125041352504135Humanname
598206950CV3997031single nucleotide variantNM_014638.4(PLCH2):c.3184G>A (p.Glu1062Lys)not specified [RCV005399737]likely benign125041462504146Humanname
598206962CV3997033single nucleotide variantNM_014638.4(PLCH2):c.3944T>C (p.Ile1315Thr)not specified [RCV005399739]uncertain significance125049062504906Humanname
598206984CV3997037single nucleotide variantNM_014638.4(PLCH2):c.4021C>T (p.Arg1341Cys)not specified [RCV005399743]uncertain significance125049832504983Humanname
598207018CV3997043single nucleotide variantNM_014638.4(PLCH2):c.3910C>T (p.Arg1304Cys)not specified [RCV005399749]uncertain significance125048722504872Humanname
598207034CV3997046single nucleotide variantNM_014638.4(PLCH2):c.3766A>C (p.Ser1256Arg)not specified [RCV005399752]uncertain significance125047282504728Humanname
598207056CV3997050single nucleotide variantNM_014638.4(PLCH2):c.4117G>A (p.Glu1373Lys)not specified [RCV005399756]uncertain significance125050792505079Humanname
15157875CV707278single nucleotide variantNM_014638.4(PLCH2):c.3358G>A (p.Val1120Met)not provided [RCV000969391]benign125043202504320Humanname
15171451CV707279microsatelliteNM_014638.4(PLCH2):c.3430TCC[3] (p.Ser1148del)not provided [RCV000972203]benign125043922504394Humanname