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


327 records found for search term Fgfrl1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597884611CV3780530single nucleotide variantNM_001004356.3(FGFRL1):c.79+8C>Anot provided [RCV005124658]likely benign410125721012572Humanname
15178782CV744060single nucleotide variantNM_001004356.3(FGFRL1):c.80-9C>Tnot provided [RCV000906955]likely benign410221941022194Humanname
15159534CV759477single nucleotide variantNM_001004356.3(FGFRL1):c.80-7C>Tnot provided [RCV000925301]likely benign410221961022196Humanname
152105401CV1559910single nucleotide variantNM_001004356.3(FGFRL1):c.719-7C>Tnot provided [RCV002133786]likely benign410243041024304Humanname
152109706CV1563920single nucleotide variantNM_001004356.3(FGFRL1):c.79+13G>Tnot provided [RCV002174179]likely benign410125771012577Humanname
156368263CV1925923single nucleotide variantNM_001004356.3(FGFRL1):c.353-8C>Gnot provided [RCV002633177]likely benign410236331023633Humanname
155925279CV2099531single nucleotide variantNM_001004356.3(FGFRL1):c.79+20C>Tnot provided [RCV002903539]likely benign410125841012584Humanname
15150381CV759381single nucleotide variantNM_001004356.3(FGFRL1):c.433+7A>TFGFRL1-related disorder [RCV003960420]|not provided [RCV000923464]likely benign410237281023728Humanname , trait , alternate_id
127304070CV1154600single nucleotide variantNM_001004356.3(FGFRL1):c.352+16G>Anot provided [RCV001515751]benign410224911022491Humanname
127322368CV1154601single nucleotide variantNM_001004356.3(FGFRL1):c.433+10G>CFGFRL1-related disorder [RCV003980636]|not provided [RCV001523505]benign410237311023731Humanname , trait , alternate_id
152140849CV1520431single nucleotide variantNM_001004356.3(FGFRL1):c.718+17G>Anot provided [RCV002178038]likely benign410241181024118Humanname
152139496CV1549693single nucleotide variantNM_001004356.3(FGFRL1):c.353-12G>Anot provided [RCV002156575]likely benign410236291023629Humanname
152099700CV1578632single nucleotide variantNM_001004356.3(FGFRL1):c.433+17G>Anot provided [RCV002151658]likely benign410237381023738Humanname
152167291CV1600563single nucleotide variantNM_001004356.3(FGFRL1):c.352+16G>Cnot provided [RCV002160832]likely benign410224911022491Humanname
152129104CV1650522single nucleotide variantNM_001004356.3(FGFRL1):c.719-20C>Tnot provided [RCV002118840]likely benign410242911024291Humanname
156154816CV1957575single nucleotide variantNM_001004356.3(FGFRL1):c.353-19C>Tnot provided [RCV002573019]likely benign410236221023622Humanname
156190491CV1961687single nucleotide variantNM_001004356.3(FGFRL1):c.719-11C>Tnot provided [RCV002574394]likely benign410243001024300Humanname
156285214CV1964556single nucleotide variantNM_001004356.3(FGFRL1):c.719-17G>Tnot provided [RCV002577613]likely benign410242941024294Humanname
156401137CV1992000single nucleotide variantNM_001004356.3(FGFRL1):c.353-17C>Tnot provided [RCV002605616]likely benign410236241023624Humanname
156405835CV2004483single nucleotide variantNM_001004356.3(FGFRL1):c.352+15C>Tnot provided [RCV002658408]likely benign410224901022490Humanname
156123366CV2039974single nucleotide variantNM_001004356.3(FGFRL1):c.719-10G>Anot provided [RCV002785879]likely benign410243011024301Humanname
156201392CV2182867single nucleotide variantNM_001004356.3(FGFRL1):c.352+16G>Tnot provided [RCV003024464]likely benign410224911022491Humanname
402520270CV3126840single nucleotide variantNM_001004356.3(FGFRL1):c.718+14C>Tnot provided [RCV003824758]likely benign410241151024115Humanname
405290143CV3214141single nucleotide variantNM_001004356.3(FGFRL1):c.1072+7G>CFGFRL1-related disorder [RCV003926976]likely benign410246711024671Humanname , trait , alternate_id
597904337CV3738280single nucleotide variantNM_001004356.3(FGFRL1):c.434-17G>Anot provided [RCV005072702]likely benign410238001023800Humanname
597878467CV3763268single nucleotide variantNM_001004356.3(FGFRL1):c.1072+4C>Anot provided [RCV005108863]uncertain significance410246681024668Humanname
597925238CV3808745single nucleotide variantNM_001004356.3(FGFRL1):c.718+16G>Anot provided [RCV005156259]likely benign410241171024117Humanname
597881834CV3857499single nucleotide variantNM_001004356.3(FGFRL1):c.434-12C>Tnot provided [RCV005199116]likely benign410238051023805Humanname
152113299CV1586020single nucleotide variantNM_001004356.3(FGFRL1):c.1073-10G>Anot provided [RCV002153340]likely benign410248951024895Humanname
155954946CV2043961single nucleotide variantNM_001004356.3(FGFRL1):c.1073-11C>Tnot provided [RCV002775971]likely benign410248941024894Humanname
405144645CV3141443single nucleotide variantNM_001004356.3(FGFRL1):c.1072+15C>Tnot provided [RCV003839560]likely benign410246791024679Humanname
404983308CV3184305single nucleotide variantNM_001004356.3(FGFRL1):c.1072+20C>Tnot provided [RCV003880797]likely benign410246841024684Humanname
15114020CV734349single nucleotide variantNM_001004356.3(FGFRL1):c.22C>T (p.Leu8=)not provided [RCV000894778]likely benign410125071012507Humanname
127317238CV1154599single nucleotide variantNM_001004356.3(FGFRL1):c.60G>A (p.Pro20=)FGFRL1-related disorder [RCV003983950]|not provided [RCV001520974]benign410125451012545Humanname , trait , alternate_id
127290116CV1154602deletionNM_001004356.3(FGFRL1):c.718+34_718+66delnot provided [RCV001509656]benign410241161024148Humanname
155909828CV1980051single nucleotide variantNM_001004356.3(FGFRL1):c.40C>T (p.Leu14=)not provided [RCV002613904]likely benign410125251012525Humanname
156180985CV2068460single nucleotide variantNM_001004356.3(FGFRL1):c.45G>C (p.Leu15=)not provided [RCV002851834]likely benign410125301012530Humanname
156057241CV2133930single nucleotide variantNM_001004356.3(FGFRL1):c.75C>T (p.Ala25=)not provided [RCV003000075]likely benign410125601012560Humanname
402501726CV3035510single nucleotide variantNM_001004356.3(FGFRL1):c.96G>A (p.Ala32=)not provided [RCV003714809]likely benign410222191022219Humanname
405253572CV3048240single nucleotide variantNM_001004356.3(FGFRL1):c.66C>T (p.Ala22=)not provided [RCV003722593]likely benign410125511012551Humanname
151798737CV1445808single nucleotide variantNM_001004356.3(FGFRL1):c.13C>T (p.Pro5Ser)not provided [RCV002011366]|not specified [RCV004046655]uncertain significance410124981012498Humanname
156372901CV1921004single nucleotide variantNM_001004356.3(FGFRL1):c.171G>A (p.Pro57=)not provided [RCV002603329]likely benign410222941022294Humanname
155915725CV1980842single nucleotide variantNM_001004356.3(FGFRL1):c.114G>A (p.Arg38=)not provided [RCV002614302]likely benign410222371022237Humanname
156023401CV2015620single nucleotide variantNM_001004356.3(FGFRL1):c.285C>A (p.Gly95=)not provided [RCV002691109]likely benign410224081022408Humanname
156232459CV2108388single nucleotide variantNM_001004356.3(FGFRL1):c.285C>T (p.Gly95=)not provided [RCV002918988]likely benign410224081022408Humanname
597965651CV3848388single nucleotide variantNM_001004356.3(FGFRL1):c.243G>A (p.Pro81=)not provided [RCV005194268]likely benign410223661022366Humanname
15172097CV720683single nucleotide variantNM_001004356.3(FGFRL1):c.192C>T (p.Thr64=)not provided [RCV000883775]likely benign410223151022315Humanname
15104297CV720684single nucleotide variantNM_001004356.3(FGFRL1):c.234C>A (p.Arg78=)not provided [RCV000892855]benign410223571022357Humanname
15110181CV748595single nucleotide variantNM_001004356.3(FGFRL1):c.216C>T (p.Ser72=)not provided [RCV000916483]likely benign410223391022339Humanname
15104491CV748596single nucleotide variantNM_001004356.3(FGFRL1):c.291C>T (p.Tyr97=)FGFRL1-related disorder [RCV003923221]|not provided [RCV000915362]likely benign410224141022414Humanname , trait , alternate_id
15103350CV781839single nucleotide variantNM_001004356.3(FGFRL1):c.178C>T (p.Leu60=)not provided [RCV000976000]likely benign410223011022301Humanname
127322372CV1154603single nucleotide variantNM_001004356.3(FGFRL1):c.891T>C (p.Asp297=)FGFRL1-related disorder [RCV003966144]|not provided [RCV001523506]benign410244831024483Humanname , trait , alternate_id
151797851CV1336944single nucleotide variantNM_001004356.3(FGFRL1):c.489C>A (p.Pro163=)not provided [RCV002047707]likely benign|uncertain significance410238721023872Humanname
151807471CV1337121single nucleotide variantNM_001004356.3(FGFRL1):c.88A>G (p.Lys30Glu)not provided [RCV002028652]|not specified [RCV004917767]uncertain significance410222111022211Humanname
151767197CV1393947single nucleotide variantNM_001004356.3(FGFRL1):c.76C>G (p.Arg26Gly)not provided [RCV002008499]|not specified [RCV004043273]uncertain significance410125611012561Humanname
151783763CV1435137single nucleotide variantNM_001004356.3(FGFRL1):c.74C>T (p.Ala25Val)not provided [RCV001916118]|not specified [RCV004917743]uncertain significance410125591012559Humanname
151874115CV1493490single nucleotide variantNM_001004356.3(FGFRL1):c.894G>A (p.Val298=)not provided [RCV001906854]likely benign|uncertain significance410244861024486Humanname
151804724CV1503418single nucleotide variantNM_001004356.3(FGFRL1):c.684C>T (p.Gly228=)not provided [RCV002011884]likely benign410240671024067Humanname
152055326CV1522029single nucleotide variantNM_001004356.3(FGFRL1):c.987C>T (p.Arg329=)not provided [RCV002189890]likely benign410245791024579Humanname
152171455CV1552754single nucleotide variantNM_001004356.3(FGFRL1):c.780C>T (p.Phe260=)not provided [RCV002143452]likely benign410243721024372Humanname
152133742CV1607603single nucleotide variantNM_001004356.3(FGFRL1):c.417C>T (p.Pro139=)not provided [RCV002119417]likely benign410237051023705Humanname
152097058CV1628009single nucleotide variantNM_001004356.3(FGFRL1):c.858C>T (p.Tyr286=)not provided [RCV002195060]likely benign410244501024450Humanname
152145726CV1661807single nucleotide variantNM_001004356.3(FGFRL1):c.315C>T (p.Phe105=)not provided [RCV002157397]likely benign410224381022438Humanname
155942242CV1910361single nucleotide variantNM_001004356.3(FGFRL1):c.540C>T (p.Pro180=)not provided [RCV002615713]likely benign410239231023923Humanname
156408125CV1911473single nucleotide variantNM_001004356.3(FGFRL1):c.996T>C (p.Asp332=)not provided [RCV002607126]likely benign410245881024588Humanname
156201058CV1952350single nucleotide variantNM_001004356.3(FGFRL1):c.714G>T (p.Val238=)not provided [RCV002574780]likely benign410240971024097Humanname
156212383CV1955816single nucleotide variantNM_001004356.3(FGFRL1):c.648C>T (p.Ser216=)not provided [RCV002575200]likely benign410240311024031Humanname
156064189CV1975312single nucleotide variantNM_001004356.3(FGFRL1):c.522C>G (p.Ala174=)not provided [RCV002591074]likely benign410239051023905Humanname
156039233CV1998935single nucleotide variantNM_001004356.3(FGFRL1):c.945C>T (p.Pro315=)not provided [RCV002658969]likely benign410245371024537Humanname
156333664CV2112916single nucleotide variantNM_001004356.3(FGFRL1):c.897C>A (p.Gly299=)not provided [RCV002938506]likely benign410244891024489Humanname
156352850CV2118785single nucleotide variantNM_001004356.3(FGFRL1):c.327C>T (p.Ser109=)not provided [RCV002966427]likely benign410224501022450Humanname
156262693CV2143430single nucleotide variantNM_001004356.3(FGFRL1):c.379C>T (p.Leu127=)not provided [RCV003008982]likely benign410236671023667Humanname
155915907CV2149879single nucleotide variantNM_001004356.3(FGFRL1):c.960C>A (p.Leu320=)not provided [RCV003012593]likely benign410245521024552Humanname
156242130CV2152649single nucleotide variantNM_001004356.3(FGFRL1):c.399T>C (p.Ser133=)not provided [RCV003008137]likely benign410236871023687Humanname
156299001CV2159497single nucleotide variantNM_001004356.3(FGFRL1):c.714G>A (p.Val238=)not provided [RCV003045461]likely benign410240971024097Humanname
401776525CV2703263single nucleotide variantNM_001004356.3(FGFRL1):c.34C>T (p.Pro12Ser)not specified [RCV004315628]uncertain significance410125191012519Humanname
405126649CV2886540single nucleotide variantNM_001004356.3(FGFRL1):c.990G>A (p.Gln330=)not provided [RCV003559562]likely benign410245821024582Humanname
405215905CV3055570single nucleotide variantNM_001004356.3(FGFRL1):c.681G>A (p.Ala227=)not provided [RCV003732651]likely benign410240641024064Humanname
405237070CV3076606single nucleotide variantNM_001004356.3(FGFRL1):c.693C>T (p.Asn231=)not provided [RCV003735994]likely benign410240761024076Humanname
405093653CV3164166single nucleotide variantNM_001004356.3(FGFRL1):c.80G>T (p.Gly27Val)not provided [RCV003852481]uncertain significance410222031022203Humanname
405236159CV3168983single nucleotide variantNM_001004356.3(FGFRL1):c.504G>A (p.Val168=)not provided [RCV003866262]likely benign410238871023887Humanname
404985570CV3183727single nucleotide variantNM_001004356.3(FGFRL1):c.300G>A (p.Lys100=)not provided [RCV003881004]likely benign410224231022423Humanname
405854320CV3393873single nucleotide variantNM_001004356.3(FGFRL1):c.510C>T (p.Leu170=)not provided [RCV004547099]likely benign410238931023893Humanname
407501719CV3439177single nucleotide variantNM_001004356.3(FGFRL1):c.29T>C (p.Leu10Pro)not specified [RCV004623319]uncertain significance410125141012514Humanname
597846214CV3736577single nucleotide variantNM_001004356.3(FGFRL1):c.68C>T (p.Ala23Val)not provided [RCV005065736]uncertain significance410125531012553Humanname
597913925CV3740570single nucleotide variantNM_001004356.3(FGFRL1):c.897C>T (p.Gly299=)not provided [RCV005073907]likely benign410244891024489Humanname
597953013CV3798877single nucleotide variantNM_001004356.3(FGFRL1):c.768G>A (p.Thr256=)not provided [RCV005136451]likely benign410243601024360Humanname
597954601CV3809288single nucleotide variantNM_001004356.3(FGFRL1):c.393C>T (p.Ser131=)not provided [RCV005162012]likely benign410236811023681Humanname
597963471CV3841540single nucleotide variantNM_001004356.3(FGFRL1):c.52G>A (p.Ala18Thr)not provided [RCV005193644]uncertain significance410125371012537Humanname
597947482CV3841867single nucleotide variantNM_001004356.3(FGFRL1):c.477G>C (p.Val159=)not provided [RCV005189301]likely benign410238601023860Humanname
15196344CV698317single nucleotide variantNM_001004356.3(FGFRL1):c.501C>T (p.Ser167=)not provided [RCV000956167]benign410238841023884Humanname
15116616CV709091single nucleotide variantNM_001004356.3(FGFRL1):c.588C>T (p.Ala196=)FGFRL1-related disorder [RCV003905844]|not provided [RCV000962066]benign|likely benign410239711023971Humanname , trait , alternate_id
15177146CV709092single nucleotide variantNM_001004356.3(FGFRL1):c.723G>A (p.Arg241=)FGFRL1-related disorder [RCV003906060]|not provided [RCV000973354]benign410243151024315Humanname , trait , alternate_id
15158252CV709093single nucleotide variantNM_001004356.3(FGFRL1):c.828G>A (p.Pro276=)FGFRL1-related disorder [RCV003972888]|not provided [RCV000969471]benign410244201024420Humanname , trait , alternate_id
15166288CV720682single nucleotide variantNM_001004356.3(FGFRL1):c.95C>T (p.Ala32Val)FGFRL1-related disorder [RCV003910410]|not provided [RCV000882600]benign410222181022218Humanname , trait , alternate_id
15179990CV720686single nucleotide variantNM_001004356.3(FGFRL1):c.738C>T (p.Pro246=)FGFRL1-related disorder [RCV003920639]|not provided [RCV000885419]benign410243301024330Humanname , trait , alternate_id
15153712CV734352single nucleotide variantNM_001004356.3(FGFRL1):c.537G>T (p.Arg179=)not provided [RCV000901813]likely benign410239201023920Humanname
15164164CV734354single nucleotide variantNM_001004356.3(FGFRL1):c.561C>T (p.Asp187=)not provided [RCV000903941]benign410239441023944Humanname
15159625CV734355single nucleotide variantNM_001004356.3(FGFRL1):c.876C>T (p.His292=)not provided [RCV000902975]likely benign410244681024468Humanname
15103474CV748597single nucleotide variantNM_001004356.3(FGFRL1):c.309C>T (p.Asn103=)not provided [RCV000915169]likely benign410224321022432Humanname
15199919CV748598single nucleotide variantNM_001004356.3(FGFRL1):c.336C>T (p.Tyr112=)not provided [RCV000912693]benign|likely benign410224591022459Humanname
15114207CV748602single nucleotide variantNM_001004356.3(FGFRL1):c.516C>T (p.Cys172=)not provided [RCV000917235]likely benign410238991023899Humanname
15115633CV748603single nucleotide variantNM_001004356.3(FGFRL1):c.525C>T (p.Ser175=)not provided [RCV000917488]likely benign410239081023908Humanname
15149276CV748604single nucleotide variantNM_001004356.3(FGFRL1):c.576G>A (p.Thr192=)FGFRL1-related disorder [RCV003903023]|not provided [RCV000923256]benign410239591023959Humanname , trait , alternate_id
15106698CV748605single nucleotide variantNM_001004356.3(FGFRL1):c.616C>T (p.Leu206=)not provided [RCV000915804]likely benign410239991023999Humanname
15162250CV748606single nucleotide variantNM_001004356.3(FGFRL1):c.672G>A (p.Ser224=)not provided [RCV000925852]benign410240551024055Humanname
15115753CV748607single nucleotide variantNM_001004356.3(FGFRL1):c.873C>T (p.Arg291=)not provided [RCV000917509]likely benign410244651024465Humanname
15198225CV748608single nucleotide variantNM_001004356.3(FGFRL1):c.948C>T (p.Asp316=)FGFRL1-related disorder [RCV003977983]|not provided [RCV000912197]likely benign410245401024540Humanname , trait , alternate_id
15197528CV748609single nucleotide variantNM_001004356.3(FGFRL1):c.993C>T (p.Asp331=)not provided [RCV000911998]likely benign410245851024585Humanname
15134454CV764229single nucleotide variantNM_001004356.3(FGFRL1):c.480C>T (p.Ile160=)not provided [RCV000942747]likely benign410238631023863Humanname
15138724CV764230single nucleotide variantNM_001004356.3(FGFRL1):c.864C>T (p.Ala288=)not provided [RCV000943440]likely benign410244561024456Humanname
15104048CV781841single nucleotide variantNM_001004356.3(FGFRL1):c.489C>T (p.Pro163=)not provided [RCV000976140]likely benign410238721023872Humanname
151795048CV1338491single nucleotide variantNM_001004356.3(FGFRL1):c.283G>A (p.Gly95Ser)not provided [RCV001898536]uncertain significance410224061022406Humanname
151880243CV1360004single nucleotide variantNM_001004356.3(FGFRL1):c.292G>A (p.Val98Met)not provided [RCV002036767]|not specified [RCV004044891]uncertain significance410224151022415Humanname
151783397CV1370000single nucleotide variantNM_001004356.3(FGFRL1):c.202C>T (p.Arg68Cys)not provided [RCV001930649]uncertain significance410223251022325Humanname
151830670CV1384473single nucleotide variantNM_001004356.3(FGFRL1):c.261G>T (p.Lys87Asn)not provided [RCV001955650]uncertain significance410223841022384Humanname
151718823CV1397407single nucleotide variantNM_001004356.3(FGFRL1):c.292G>C (p.Val98Leu)not provided [RCV001982733]uncertain significance410224151022415Humanname
151748174CV1411971single nucleotide variantNM_001004356.3(FGFRL1):c.117G>C (p.Gln39His)not provided [RCV001927226]uncertain significance410222401022240Humanname
151721215CV1421668single nucleotide variantNM_001004356.3(FGFRL1):c.142C>T (p.Arg48Trp)not provided [RCV001909758]uncertain significance410222651022265Humanname
152108520CV1550809single nucleotide variantNM_001004356.3(FGFRL1):c.1434C>A (p.Ile478=)not provided [RCV002152732]likely benign410252661025266Humanname
152152243CV1559829single nucleotide variantNM_001004356.3(FGFRL1):c.1143C>T (p.Ile381=)not provided [RCV002220996]likely benign410249751024975Humanname
152088105CV1594800single nucleotide variantNM_001004356.3(FGFRL1):c.1038C>T (p.Tyr346=)not provided [RCV002113691]likely benign410246301024630Humanname
152086538CV1602308single nucleotide variantNM_001004356.3(FGFRL1):c.1233C>G (p.Ala411=)not provided [RCV002113467]likely benign410250651025065Humanname
152088245CV1638875single nucleotide variantNM_001004356.3(FGFRL1):c.1266G>A (p.Thr422=)not provided [RCV002150243]likely benign410250981025098Humanname
156286115CV1897138single nucleotide variantNM_001004356.3(FGFRL1):c.1378C>T (p.Leu460=)not provided [RCV003087292]likely benign410252101025210Humanname
156290108CV1897403single nucleotide variantNM_001004356.3(FGFRL1):c.173C>T (p.Pro58Leu)not provided [RCV002598718]uncertain significance410222961022296Humanname
156445025CV1949144single nucleotide variantNM_001004356.3(FGFRL1):c.113G>A (p.Arg38Gln)not provided [RCV003115959]likely benign410222361022236Humanname
156302772CV1955663single nucleotide variantNM_001004356.3(FGFRL1):c.1272C>T (p.Arg424=)not provided [RCV002578300]likely benign410251041025104Humanname
156322904CV1979014single nucleotide variantNM_001004356.3(FGFRL1):c.233G>A (p.Arg78His)not provided [RCV002630467]uncertain significance410223561022356Humanname
155954102CV2043906single nucleotide variantNM_001004356.3(FGFRL1):c.160G>A (p.Glu54Lys)not provided [RCV002775929]uncertain significance410222831022283Humanname
155951040CV2046736single nucleotide variantNM_001004356.3(FGFRL1):c.1215G>A (p.Pro405=)not provided [RCV002775779]likely benign410250471025047Humanname
156253039CV2117076single nucleotide variantNM_001004356.3(FGFRL1):c.286G>A (p.Val96Met)not provided [RCV002933620]uncertain significance410224091022409Humanname
156153461CV2131907single nucleotide variantNM_001004356.3(FGFRL1):c.1158C>T (p.Gly386=)not provided [RCV002982736]likely benign410249901024990Humanname
401721594CV2683577single nucleotide variantNM_001004356.3(FGFRL1):c.242C>T (p.Pro81Leu)not specified [RCV004282506]uncertain significance410223651022365Humanname
401880282CV2766187single nucleotide variantNM_001004356.3(FGFRL1):c.238C>A (p.Leu80Met)not specified [RCV004340630]uncertain significance410223611022361Humanname
402475804CV2916813single nucleotide variantNM_001004356.3(FGFRL1):c.1389C>G (p.Gly463=)not provided [RCV003571403]likely benign410252211025221Humanname
402491982CV2981156single nucleotide variantNM_001004356.3(FGFRL1):c.227G>C (p.Arg76Pro)not provided [RCV003713865]uncertain significance410223501022350Humanname
402513593CV2991469single nucleotide variantNM_001004356.3(FGFRL1):c.1431C>T (p.Asp477=)not provided [RCV003689750]likely benign410252631025263Humanname
405129170CV3054330single nucleotide variantNM_001004356.3(FGFRL1):c.1278C>T (p.Arg426=)not provided [RCV003724584]likely benign410251101025110Humanname
405215742CV3124619single nucleotide variantNM_001004356.3(FGFRL1):c.1497C>T (p.His499=)not provided [RCV003823981]likely benign410253291025329Humanname
405274567CV3208949single nucleotide variantNM_001004356.3(FGFRL1):c.1359G>A (p.Pro453=)FGFRL1-related disorder [RCV003951726]|not provided [RCV005101842]likely benign410251911025191Humanname , trait , alternate_id
405292809CV3217617single nucleotide variantNM_001004356.3(FGFRL1):c.1224C>T (p.Pro408=)FGFRL1-related disorder [RCV003964781]|not provided [RCV005103100]likely benign410250561025056Humanname , trait , alternate_id
408367349CV3511093single nucleotide variantNM_001004356.3(FGFRL1):c.1335G>A (p.Gly445=)FGFRL1-related disorder [RCV004758398]likely benign410251671025167Humanname , trait , alternate_id
597752098CV3672764single nucleotide variantNM_001004356.3(FGFRL1):c.216C>A (p.Ser72Arg)not specified [RCV004923852]uncertain significance410223391022339Humanname
597752103CV3672765single nucleotide variantNM_001004356.3(FGFRL1):c.133C>T (p.Arg45Cys)not provided [RCV005110269]|not specified [RCV004923853]uncertain significance410222561022256Humanname
597891436CV3749380single nucleotide variantNM_001004356.3(FGFRL1):c.1317C>T (p.Ser439=)not provided [RCV005071164]likely benign410251491025149Humanname
597967682CV3760704single nucleotide variantNM_001004356.3(FGFRL1):c.232C>T (p.Arg78Cys)not provided [RCV005083271]uncertain significance410223551022355Humanname
597945378CV3807326single nucleotide variantNM_001004356.3(FGFRL1):c.1176C>G (p.Gly392=)not provided [RCV005159961]likely benign410250081025008Humanname
597958326CV3814803single nucleotide variantNM_001004356.3(FGFRL1):c.245A>G (p.Gln82Arg)not provided [RCV005162928]uncertain significance410223681022368Humanname
597965627CV3848382single nucleotide variantNM_001004356.3(FGFRL1):c.1338G>A (p.Leu446=)not provided [RCV005194262]likely benign410251701025170Humanname
597912311CV3850656single nucleotide variantNM_001004356.3(FGFRL1):c.131G>A (p.Gly44Asp)not provided [RCV005203804]uncertain significance410222541022254Humanname
15194751CV720687single nucleotide variantNM_001004356.3(FGFRL1):c.1302G>C (p.Ser434=)not provided [RCV000889306]likely benign410251341025134Humanname
15134152CV734356single nucleotide variantNM_001004356.3(FGFRL1):c.1134C>T (p.Pro378=)not provided [RCV000898242]likely benign410249661024966Humanname
15192035CV734357single nucleotide variantNM_001004356.3(FGFRL1):c.1155C>T (p.Ala385=)not provided [RCV000910420]likely benign410249871024987Humanname
15187348CV734358single nucleotide variantNM_001004356.3(FGFRL1):c.1347G>A (p.Glu449=)not provided [RCV000909065]likely benign410251791025179Humanname
15146692CV734360single nucleotide variantNM_001004356.3(FGFRL1):c.1383C>T (p.Gly461=)not provided [RCV000900370]likely benign410252151025215Humanname
15154534CV748610single nucleotide variantNM_001004356.3(FGFRL1):c.1020C>T (p.Gly340=)not provided [RCV000924278]likely benign410246121024612Humanname
15151755CV748611single nucleotide variantNM_001004356.3(FGFRL1):c.1059C>A (p.Leu353=)not provided [RCV000923740]likely benign410246511024651Humanname
15197532CV748612single nucleotide variantNM_001004356.3(FGFRL1):c.1227G>A (p.Ala409=)FGFRL1-related disorder [RCV003968408]|not provided [RCV000911999]benign410250591025059Humanname , trait , alternate_id
15202809CV748613single nucleotide variantNM_001004356.3(FGFRL1):c.1251C>T (p.His417=)not provided [RCV000913554]benign410250831025083Humanname
15149281CV748614single nucleotide variantNM_001004356.3(FGFRL1):c.1257G>A (p.Pro419=)not provided [RCV000923257]likely benign410250891025089Humanname
15194225CV748615single nucleotide variantNM_001004356.3(FGFRL1):c.1260G>A (p.Pro420=)not provided [RCV000911064]likely benign410250921025092Humanname
15145330CV748616single nucleotide variantNM_001004356.3(FGFRL1):c.1302G>A (p.Ser434=)not provided [RCV000922523]likely benign410251341025134Humanname
15100521CV781842single nucleotide variantNM_001004356.3(FGFRL1):c.1263G>C (p.Gly421=)not provided [RCV000975423]likely benign410250951025095Humanname
25317027CV805002single nucleotide variantNM_001004356.3(FGFRL1):c.124C>T (p.Arg42Trp)Flexion contracture [RCV001007784]|not provided [RCV003727836]uncertain significance410222471022247Human2name
126733545CV1004992single nucleotide variantNM_001004356.3(FGFRL1):c.442C>T (p.Arg148Cys)not provided [RCV001313415]uncertain significance410238251023825Humanname
151847109CV1339170single nucleotide variantNM_001004356.3(FGFRL1):c.878A>G (p.Asn293Ser)not provided [RCV001995479]uncertain significance410244701024470Humanname
151855811CV1356291single nucleotide variantNM_001004356.3(FGFRL1):c.388G>A (p.Asp130Asn)not provided [RCV001923381]uncertain significance410236761023676Humanname
151778417CV1370670single nucleotide variantNM_001004356.3(FGFRL1):c.609G>C (p.Lys203Asn)not provided [RCV001864735]uncertain significance410239921023992Humanname
151756511CV1381881single nucleotide variantNM_001004356.3(FGFRL1):c.676C>T (p.Arg226Cys)not provided [RCV001969714]uncertain significance410240591024059Humanname
151764354CV1387311single nucleotide variantNM_001004356.3(FGFRL1):c.368G>A (p.Gly123Glu)not provided [RCV001987628]|not specified [RCV004043769]uncertain significance410236561023656Humanname
151866345CV1392913single nucleotide variantNM_001004356.3(FGFRL1):c.575C>T (p.Thr192Met)not provided [RCV001939205]|not specified [RCV004041920]uncertain significance410239581023958Humanname
151877125CV1395383single nucleotide variantNM_001004356.3(FGFRL1):c.973A>G (p.Ile325Val)not provided [RCV002019671]uncertain significance410245651024565Humanname
151830528CV1405449single nucleotide variantNM_001004356.3(FGFRL1):c.986G>A (p.Arg329His)not provided [RCV001901766]uncertain significance410245781024578Humanname
151821994CV1418650single nucleotide variantNM_001004356.3(FGFRL1):c.944C>A (p.Pro315His)not provided [RCV001954847]uncertain significance410245361024536Humanname
151817444CV1427418single nucleotide variantNM_001004356.3(FGFRL1):c.418G>A (p.Ala140Thr)not provided [RCV001878887]uncertain significance410237061023706Humanname
151842602CV1438384single nucleotide variantNM_001004356.3(FGFRL1):c.848G>A (p.Arg283His)not provided [RCV001921714]uncertain significance410244401024440Humanname
151755479CV1449248single nucleotide variantNM_001004356.3(FGFRL1):c.685G>A (p.Ala229Thr)not provided [RCV001986711]|not specified [RCV004045419]uncertain significance410240681024068Humanname
151834938CV1463170single nucleotide variantNM_001004356.3(FGFRL1):c.664C>T (p.Arg222Cys)not provided [RCV001880680]|not specified [RCV004040585]uncertain significance410240471024047Humanname
151870705CV1477016single nucleotide variantNM_001004356.3(FGFRL1):c.867G>T (p.Glu289Asp)not provided [RCV001925170]|not specified [RCV004917742]uncertain significance410244591024459Humanname
151787616CV1479118single nucleotide variantNM_001004356.3(FGFRL1):c.485G>C (p.Arg162Pro)not provided [RCV002046783]|not specified [RCV004038825]uncertain significance410238681023868Humanname
151818071CV1482058single nucleotide variantNM_001004356.3(FGFRL1):c.323T>G (p.Leu108Arg)not provided [RCV002029615]uncertain significance410224461022446Humanname
151869489CV1511035single nucleotide variantNM_001004356.3(FGFRL1):c.577C>T (p.Arg193Cys)not provided [RCV001998145]|not specified [RCV004917756]uncertain significance410239601023960Humanname
152035338CV1552915single nucleotide variantNM_001004356.3(FGFRL1):c.980G>A (p.Arg327His)not provided [RCV002187398]|not specified [RCV004045539]likely benign|uncertain significance410245721024572Humanname
156395396CV1877111single nucleotide variantNM_001004356.3(FGFRL1):c.473G>A (p.Arg158Gln)not provided [RCV003068530]uncertain significance410238561023856Humanname
156405072CV1883692single nucleotide variantNM_001004356.3(FGFRL1):c.589G>A (p.Ala197Thr)not provided [RCV003069906]uncertain significance410239721023972Humanname
156133721CV1905521single nucleotide variantNM_001004356.3(FGFRL1):c.665G>A (p.Arg222His)not provided [RCV003081938]uncertain significance410240481024048Humanname
156314170CV1907021single nucleotide variantNM_001004356.3(FGFRL1):c.502G>A (p.Val168Met)not provided [RCV003088621]uncertain significance410238851023885Humanname
155946409CV1947730single nucleotide variantNM_001004356.3(FGFRL1):c.677G>A (p.Arg226His)not provided [RCV003108182]|not specified [RCV004128726]uncertain significance410240601024060Humanname
156382913CV2005102single nucleotide variantNM_001004356.3(FGFRL1):c.962A>G (p.Asn321Ser)not provided [RCV002653783]uncertain significance410245541024554Humanname
156021301CV2040654single nucleotide variantNM_001004356.3(FGFRL1):c.898G>A (p.Gly300Ser)not provided [RCV002795600]|not specified [RCV004064788]uncertain significance410244901024490Humanname
155935611CV2045723single nucleotide variantNM_001004356.3(FGFRL1):c.412G>A (p.Asp138Asn)not provided [RCV002751433]uncertain significance410237001023700Humanname
156007185CV2099815single nucleotide variantNM_001004356.3(FGFRL1):c.490G>A (p.Val164Met)not provided [RCV002908912]uncertain significance410238731023873Humanname
156097419CV2102988single nucleotide variantNM_001004356.3(FGFRL1):c.304A>G (p.Thr102Ala)not provided [RCV002913271]uncertain significance410224271022427Humanname
156025020CV2112384single nucleotide variantNM_001004356.3(FGFRL1):c.505C>T (p.Arg169Trp)not provided [RCV002909796]uncertain significance410238881023888Humanname
156331596CV2112715single nucleotide variantNM_001004356.3(FGFRL1):c.343G>A (p.Val115Ile)not provided [RCV002938400]|not specified [RCV004067095]likely benign|uncertain significance410224661022466Humanname
155993529CV2112808single nucleotide variantNM_001004356.3(FGFRL1):c.865G>A (p.Glu289Lys)FGFRL1-related disorder [RCV003963442]|not provided [RCV002947445]|not specified [RCV004067098]uncertain significance410244571024457Humanname , trait , alternate_id
156199848CV2113869single nucleotide variantNM_001004356.3(FGFRL1):c.991G>A (p.Asp331Asn)not provided [RCV002957339]uncertain significance410245831024583Humanname
156106374CV2120918single nucleotide variantNM_001004356.3(FGFRL1):c.938C>T (p.Ser313Leu)not provided [RCV002952929]|not specified [RCV004067271]uncertain significance410245301024530Humanname
156018075CV2121523single nucleotide variantNM_001004356.3(FGFRL1):c.506G>A (p.Arg169Gln)not provided [RCV002948634]uncertain significance410238891023889Humanname
156091736CV2135580single nucleotide variantNM_001004356.3(FGFRL1):c.346G>A (p.Val116Met)not provided [RCV003001857]uncertain significance410224691022469Humanname
156205447CV2146773single nucleotide variantNM_001004356.3(FGFRL1):c.415C>T (p.Pro139Ser)not provided [RCV003006478]uncertain significance410237031023703Humanname
156314788CV2160746single nucleotide variantNM_001004356.3(FGFRL1):c.524G>A (p.Ser175Asn)not provided [RCV003046236]uncertain significance410239071023907Humanname
155921658CV2208555single nucleotide variantNM_001004356.3(FGFRL1):c.586G>T (p.Ala196Ser)not specified [RCV004091084]uncertain significance410239691023969Humanname
156121529CV2240869single nucleotide variantNM_001004356.3(FGFRL1):c.469C>T (p.Arg157Cys)not specified [RCV004102158]uncertain significance410238521023852Humanname
156077435CV2291634single nucleotide variantNM_001004356.3(FGFRL1):c.817G>A (p.Asp273Asn)not specified [RCV004155924]uncertain significance410244091024409Humanname
156263718CV2315027single nucleotide variantNM_001004356.3(FGFRL1):c.850G>A (p.Val284Met)not specified [RCV004164941]uncertain significance410244421024442Humanname
156166092CV2315209single nucleotide variantNM_001004356.3(FGFRL1):c.521C>T (p.Ala174Val)not specified [RCV004165379]uncertain significance410239041023904Humanname
156328747CV2332306single nucleotide variantNM_001004356.3(FGFRL1):c.686C>T (p.Ala229Val)not specified [RCV004182476]uncertain significance410240691024069Humanname
156134945CV2347165single nucleotide variantNM_001004356.3(FGFRL1):c.680C>T (p.Ala227Val)not provided [RCV003689034]|not specified [RCV004204641]uncertain significance410240631024063Humanname
156348605CV2383150single nucleotide variantNM_001004356.3(FGFRL1):c.470G>A (p.Arg157His)not provided [RCV005099080]|not specified [RCV004219764]uncertain significance410238531023853Humanname
401750874CV2715792single nucleotide variantNM_001004356.3(FGFRL1):c.344T>C (p.Val115Ala)not specified [RCV004328924]uncertain significance410224671022467Humanname
401862525CV2762187single nucleotide variantNM_001004356.3(FGFRL1):c.517G>A (p.Val173Met)not provided [RCV003561317]|not specified [RCV004335318]uncertain significance410239001023900Humanname
401877868CV2786833single nucleotide variantNM_001004356.3(FGFRL1):c.919C>T (p.Pro307Ser)not specified [RCV004365994]uncertain significance410245111024511Humanname
401923379CV2822307single nucleotide variantNM_001004356.3(FGFRL1):c.767C>T (p.Thr256Met)not provided [RCV003434918]uncertain significance410243591024359Humanname
404979403CV2850103single nucleotide variantNM_001004356.3(FGFRL1):c.929A>C (p.Asp310Ala)not provided [RCV003487821]uncertain significance410245211024521Humanname
405124361CV2885231single nucleotide variantNM_001004356.3(FGFRL1):c.415C>A (p.Pro139Thr)not provided [RCV003559345]|not specified [RCV004369173]uncertain significance410237031023703Humanname
402497242CV2906022single nucleotide variantNM_001004356.3(FGFRL1):c.940C>T (p.Arg314Trp)not provided [RCV003573627]uncertain significance410245321024532Humanname
402502218CV3035599single nucleotide variantNM_001004356.3(FGFRL1):c.512A>G (p.Lys171Arg)not provided [RCV003714862]uncertain significance410238951023895Humanname
402521898CV3126960single nucleotide variantNM_001004356.3(FGFRL1):c.721C>T (p.Arg241Trp)not provided [RCV003824878]uncertain significance410243131024313Humanname
402481624CV3170824single nucleotide variantNM_001004356.3(FGFRL1):c.985C>T (p.Arg329Cys)not provided [RCV003876027]uncertain significance410245771024577Humanname
405760414CV3250265single nucleotide variantNM_001004356.3(FGFRL1):c.326G>A (p.Ser109Asn)not specified [RCV004394157]uncertain significance410224491022449Humanname
405760420CV3250266single nucleotide variantNM_001004356.3(FGFRL1):c.365C>G (p.Pro122Arg)not specified [RCV004394158]uncertain significance410236531023653Humanname
405760426CV3250267single nucleotide variantNM_001004356.3(FGFRL1):c.437G>A (p.Arg146Gln)not specified [RCV004394159]uncertain significance410238201023820Humanname
405760433CV3250268single nucleotide variantNM_001004356.3(FGFRL1):c.638C>T (p.Pro213Leu)not specified [RCV004394160]uncertain significance410240211024021Humanname
405760438CV3250269single nucleotide variantNM_001004356.3(FGFRL1):c.946G>A (p.Asp316Asn)not specified [RCV004394161]uncertain significance410245381024538Humanname
407501714CV3439176single nucleotide variantNM_001004356.3(FGFRL1):c.998C>T (p.Ala333Val)not specified [RCV004623318]uncertain significance410245901024590Humanname
597752072CV3672759single nucleotide variantNM_001004356.3(FGFRL1):c.364C>G (p.Pro122Ala)not specified [RCV004923847]uncertain significance410236521023652Humanname
597752082CV3672761single nucleotide variantNM_001004356.3(FGFRL1):c.562G>A (p.Asp188Asn)not specified [RCV004923849]uncertain significance410239451023945Humanname
597752093CV3672763single nucleotide variantNM_001004356.3(FGFRL1):c.979C>T (p.Arg327Cys)not specified [RCV004923851]uncertain significance410245711024571Humanname
597752120CV3672768single nucleotide variantNM_001004356.3(FGFRL1):c.634C>T (p.Arg212Trp)not specified [RCV004923856]uncertain significance410240171024017Humanname
597901738CV3741389single nucleotide variantNM_001004356.3(FGFRL1):c.847C>T (p.Arg283Cys)not provided [RCV005072360]uncertain significance410244391024439Humanname
597830772CV3743312single nucleotide variantNM_001004356.3(FGFRL1):c.589G>T (p.Ala197Ser)not provided [RCV005062320]uncertain significance410239721023972Humanname
597910368CV3749616single nucleotide variantNM_001004356.3(FGFRL1):c.316G>A (p.Gly106Ser)not provided [RCV005073464]uncertain significance410224391022439Humanname
597834528CV3760768single nucleotide variantNM_001004356.3(FGFRL1):c.820G>A (p.Val274Met)not provided [RCV005085319]uncertain significance410244121024412Humanname
597970629CV3802027single nucleotide variantNM_001004356.3(FGFRL1):c.658A>C (p.Thr220Pro)not provided [RCV005141819]uncertain significance410240411024041Humanname
597970380CV3832457single nucleotide variantNM_001004356.3(FGFRL1):c.850G>T (p.Val284Leu)not provided [RCV005166536]uncertain significance410244421024442Humanname
598241938CV3955591single nucleotide variantNM_001004356.3(FGFRL1):c.727C>T (p.Arg243Cys)not specified [RCV005344435]uncertain significance410243191024319Humanname
598272058CV3955594single nucleotide variantNM_001004356.3(FGFRL1):c.868G>A (p.Gly290Ser)not specified [RCV005327880]uncertain significance410244601024460Humanname
598272064CV3955596single nucleotide variantNM_001004356.3(FGFRL1):c.838T>C (p.Trp280Arg)not specified [RCV005327881]uncertain significance410244301024430Humanname
15165502CV709090single nucleotide variantNM_001004356.3(FGFRL1):c.578G>A (p.Arg193His)not provided [RCV000970963]likely benign410239611023961Humanname
15160598CV734353single nucleotide variantNM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn)4p partial monosomy syndrome [RCV002495461]|FGFRL1-related disorder [RCV003932857]|not provided [RCV000903177]benign|likely benign410239241023924Human2name , trait , alternate_id
38597040CV801801single nucleotide variantNM_001004356.3(FGFRL1):c.335A>G (p.Tyr112Cys)Microcephaly [RCV001252843]|not specified [RCV004619479]uncertain significance410224581022458Human2name
38463721CV918868single nucleotide variantNM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)4p partial monosomy syndrome [RCV001199252]uncertain significance410244341024434Human2name
41406592CV980498single nucleotide variantNM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val)Congenital diaphragmatic hernia [RCV001281070]|not provided [RCV002541759]pathogenic|uncertain significance410244781024478Human2name
126760676CV989825single nucleotide variantNM_001004356.3(FGFRL1):c.812G>A (p.Arg271His)not provided [RCV001309385]uncertain significance410244041024404Humanname
127290166CV1154604single nucleotide variantNM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln)not provided [RCV001509690]benign410249171024917Human2name
127290166CV1154604single nucleotide variantNM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln)not provided [RCV001509690]benign410249171024918Human2name
127320289CV1154605single nucleotide variantNM_001004356.3(FGFRL1):c.1271G>T (p.Arg424Leu)FGFRL1-related disorder [RCV003980625]|not provided [RCV001522570]benign410251031025103Humanname , trait , alternate_id
127318700CV1154606single nucleotide variantNM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu)not provided [RCV001521785]benign410252231025223Human1name
127318700CV1154606single nucleotide variantNM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu)not provided [RCV001521785]benign410252231025224Human1name
151853850CV1349363single nucleotide variantNM_001004356.3(FGFRL1):c.1390C>G (p.Pro464Ala)not provided [RCV001923146]uncertain significance410252221025222Humanname
151830978CV1354210single nucleotide variantNM_001004356.3(FGFRL1):c.1423T>C (p.Tyr475His)not provided [RCV001880306]uncertain significance410252551025255Humanname
151736011CV1354794single nucleotide variantNM_001004356.3(FGFRL1):c.1330G>A (p.Val444Met)not provided [RCV001892764]uncertain significance410251621025162Humanname
151882008CV1371105single nucleotide variantNM_001004356.3(FGFRL1):c.1354T>G (p.Ser452Ala)not provided [RCV001886643]uncertain significance410251861025186Humanname
151852275CV1385040single nucleotide variantNM_001004356.3(FGFRL1):c.1214C>T (p.Pro405Leu)not provided [RCV001958155]|not specified [RCV004616908]uncertain significance410250461025046Humanname
151857517CV1408102single nucleotide variantNM_001004356.3(FGFRL1):c.1436A>C (p.His479Pro)not provided [RCV001883505]|not specified [RCV005341117]uncertain significance410252681025268Humanname
151823426CV1412164single nucleotide variantNM_001004356.3(FGFRL1):c.1099G>T (p.Ala367Ser)not provided [RCV001901107]uncertain significance410249311024931Humanname
151771716CV1417740single nucleotide variantNM_001004356.3(FGFRL1):c.1256C>A (p.Pro419Gln)not provided [RCV001874516]uncertain significance410250881025088Humanname
151764103CV1418524single nucleotide variantNM_001004356.3(FGFRL1):c.1270C>T (p.Arg424Cys)not provided [RCV001928861]|not specified [RCV004044201]uncertain significance410251021025102Humanname
151887256CV1426694single nucleotide variantNM_001004356.3(FGFRL1):c.1463C>T (p.Thr488Ile)not provided [RCV002038150]uncertain significance410252951025295Humanname
151776030CV1449811single nucleotide variantNM_001004356.3(FGFRL1):c.1457C>G (p.Ser486Cys)not provided [RCV001864522]uncertain significance410252891025289Humanname
151883900CV1452508single nucleotide variantNM_001004356.3(FGFRL1):c.1435C>G (p.His479Asp)not provided [RCV002037440]|not specified [RCV004917726]uncertain significance410252671025267Humanname
151778944CV1463409single nucleotide variantNM_001004356.3(FGFRL1):c.1454A>T (p.His485Leu)not provided [RCV001875174]uncertain significance410252861025286Humanname
151892452CV1481125single nucleotide variantNM_001004356.3(FGFRL1):c.1264A>T (p.Thr422Ser)not provided [RCV001944128]|not specified [RCV004042068]uncertain significance410250961025096Humanname
152075913CV1528363single nucleotide variantNM_001004356.3(FGFRL1):c.1391C>A (p.Pro464Gln)not provided [RCV002112101]likely benign410252231025223Humanname
152030771CV1580877single nucleotide variantNM_001004356.3(FGFRL1):c.1474G>A (p.Val492Met)FGFRL1-related disorder [RCV003913779]|not provided [RCV002086217]benign410253061025306Humanname , trait , alternate_id
156151997CV1896023single nucleotide variantNM_001004356.3(FGFRL1):c.1271G>A (p.Arg424His)not provided [RCV003082583]uncertain significance410251031025103Humanname
156228427CV1896551microsatelliteNM_001004356.3(FGFRL1):c.64GCC[3] (p.Ala25del)not provided [RCV003085267]uncertain significance410125491012551Humanname
156298508CV1924264single nucleotide variantNM_001004356.3(FGFRL1):c.1252C>T (p.Arg418Cys)not provided [RCV002629129]uncertain significance410250841025084Humanname
156364134CV1932013single nucleotide variantNM_001004356.3(FGFRL1):c.1273G>A (p.Asp425Asn)not provided [RCV002632886]|not specified [RCV004917829]uncertain significance410251051025105Humanname
156443836CV1941104single nucleotide variantNM_001004356.3(FGFRL1):c.1259C>A (p.Pro420Gln)not provided [RCV003114745]|not specified [RCV004917835]uncertain significance410250911025091Humanname
156437722CV1947737single nucleotide variantNM_001004356.3(FGFRL1):c.1366C>T (p.Pro456Ser)FGFRL1-related disorder [RCV003963804]|not provided [RCV003107264]likely benign410251981025198Humanname , trait , alternate_id
156048552CV1978155single nucleotide variantNM_001004356.3(FGFRL1):c.1126C>T (p.Pro376Ser)not provided [RCV002590582]uncertain significance410249581024958Humanname
156395900CV1980444single nucleotide variantNM_001004356.3(FGFRL1):c.1117A>G (p.Thr373Ala)not provided [RCV002605126]uncertain significance410249491024949Humanname
156400824CV1982301single nucleotide variantNM_001004356.3(FGFRL1):c.1135G>A (p.Val379Met)not provided [RCV002635952]uncertain significance410249671024967Humanname
155939651CV1995915single nucleotide variantNM_001004356.3(FGFRL1):c.1192C>G (p.Leu398Val)not provided [RCV002685377]uncertain significance410250241025024Humanname
156351568CV1997741single nucleotide variantNM_001004356.3(FGFRL1):c.1433T>C (p.Ile478Thr)not provided [RCV002675631]uncertain significance410252651025265Humanname
156337017CV2110186single nucleotide variantNM_001004356.3(FGFRL1):c.1112C>T (p.Ser371Leu)not provided [RCV002938693]|not specified [RCV004067212]uncertain significance410249441024944Humanname
155941209CV2114869single nucleotide variantNM_001004356.3(FGFRL1):c.1347G>C (p.Glu449Asp)not provided [RCV002904485]|not specified [RCV004066283]uncertain significance410251791025179Humanname
156223621CV2121696single nucleotide variantNM_001004356.3(FGFRL1):c.1511G>T (p.Cys504Phe)not provided [RCV002958241]uncertain significance410253431025343Humanname
156126290CV2144892single nucleotide variantNM_001004356.3(FGFRL1):c.1503C>G (p.His501Gln)not provided [RCV003003183]uncertain significance410253351025335Humanname
156244004CV2243020single nucleotide variantNM_001004356.3(FGFRL1):c.1030A>G (p.Met344Val)not specified [RCV004109940]uncertain significance410246221024622Humanname
156204455CV2252482single nucleotide variantNM_001004356.3(FGFRL1):c.1168A>T (p.Ile390Phe)not specified [RCV004116599]uncertain significance410250001025000Humanname
156229292CV2267619single nucleotide variantNM_001004356.3(FGFRL1):c.1400G>A (p.Gly467Asp)not specified [RCV004134175]uncertain significance410252321025232Humanname
156086368CV2366280single nucleotide variantNM_001004356.3(FGFRL1):c.1282G>A (p.Gly428Arg)not specified [RCV004210295]uncertain significance410251141025114Humanname
329360660CV2452374single nucleotide variantNM_001004356.3(FGFRL1):c.1220C>A (p.Thr407Asn)not specified [RCV004272695]uncertain significance410250521025052Humanname
329396161CV2459365single nucleotide variantNM_001004356.3(FGFRL1):c.1420C>G (p.Leu474Val)not specified [RCV004275065]likely benign410252521025252Humanname
329387819CV2471015single nucleotide variantNM_001004356.3(FGFRL1):c.1381G>T (p.Gly461Cys)not specified [RCV004277981]uncertain significance410252131025213Humanname
401758666CV2694216single nucleotide variantNM_001004356.3(FGFRL1):c.1301C>T (p.Ser434Leu)not specified [RCV004302633]uncertain significance410251331025133Humanname
401743694CV2696847single nucleotide variantNM_001004356.3(FGFRL1):c.1411T>C (p.Tyr471His)not specified [RCV004290813]uncertain significance410252431025243Humanname
401776166CV2724602single nucleotide variantNM_001004356.3(FGFRL1):c.1114G>A (p.Ala372Thr)not specified [RCV004331402]likely benign410249461024946Humanname
401771142CV2726378single nucleotide variantNM_001004356.3(FGFRL1):c.1439C>T (p.Thr480Ile)not specified [RCV004326810]uncertain significance410252711025271Humanname
401888439CV2761303single nucleotide variantNM_001004356.3(FGFRL1):c.1106C>T (p.Ser369Leu)not specified [RCV004341172]uncertain significance410249381024938Humanname
402496746CV3005929single nucleotide variantNM_001004356.3(FGFRL1):c.1407G>C (p.Lys469Asn)not provided [RCV003688086]uncertain significance410252391025239Humanname
405219174CV3035011single nucleotide variantNM_001004356.3(FGFRL1):c.1459C>T (p.His487Tyr)not provided [RCV003709715]|not specified [RCV004917865]uncertain significance410252911025291Humanname
405086093CV3047764single nucleotide variantNM_001004356.3(FGFRL1):c.1358C>T (p.Pro453Leu)not provided [RCV003717481]uncertain significance410251901025190Humanname
405209505CV3062065single nucleotide variantNM_001004356.3(FGFRL1):c.1259C>T (p.Pro420Leu)not provided [RCV003731791]uncertain significance410250911025091Humanname
405245871CV3075604single nucleotide variantNM_001004356.3(FGFRL1):c.1277G>A (p.Arg426His)not provided [RCV003738582]uncertain significance410251091025109Humanname
405213516CV3078225single nucleotide variantNM_001004356.3(FGFRL1):c.1418A>C (p.Lys473Thr)not provided [RCV003732334]uncertain significance410252501025250Humanname
405049343CV3080112single nucleotide variantNM_001004356.3(FGFRL1):c.1051G>A (p.Ala351Thr)not provided [RCV003740480]uncertain significance410246431024643Humanname
405018756CV3135369single nucleotide variantNM_001004356.3(FGFRL1):c.1159G>A (p.Ala387Thr)not provided [RCV003829640]|not specified [RCV004917883]uncertain significance410249911024991Humanname
405219231CV3161403single nucleotide variantNM_001004356.3(FGFRL1):c.1225G>A (p.Ala409Thr)not provided [RCV003863272]uncertain significance410250571025057Humanname
405760391CV3250261single nucleotide variantNM_001004356.3(FGFRL1):c.1160C>T (p.Ala387Val)not specified [RCV004394153]uncertain significance410249921024992Humanname
405760404CV3250263single nucleotide variantNM_001004356.3(FGFRL1):c.1300T>C (p.Ser434Pro)not specified [RCV004394155]uncertain significance410251321025132Humanname
405760409CV3250264single nucleotide variantNM_001004356.3(FGFRL1):c.1394T>C (p.Val465Ala)not specified [RCV004394156]likely benign410252261025226Humanname
407501709CV3439175single nucleotide variantNM_001004356.3(FGFRL1):c.1418A>G (p.Lys473Arg)not specified [RCV004623317]uncertain significance410252501025250Humanname
597752088CV3672762single nucleotide variantNM_001004356.3(FGFRL1):c.1309G>A (p.Ala437Thr)not specified [RCV004923850]uncertain significance410251411025141Humanname
597752115CV3672767single nucleotide variantNM_001004356.3(FGFRL1):c.1129T>C (p.Trp377Arg)not specified [RCV004923855]uncertain significance410249611024961Humanname
597752125CV3672769single nucleotide variantNM_001004356.3(FGFRL1):c.1056C>A (p.Phe352Leu)not specified [RCV004923857]uncertain significance410246481024648Humanname
597939918CV3785232single nucleotide variantNM_001004356.3(FGFRL1):c.1156G>A (p.Gly386Ser)not provided [RCV005133337]uncertain significance410249881024988Humanname
597905386CV3846525single nucleotide variantNM_001004356.3(FGFRL1):c.1506T>G (p.Tyr502Ter)not provided [RCV005181952]uncertain significance410253381025338Humanname
598241946CV3955592single nucleotide variantNM_001004356.3(FGFRL1):c.1276C>T (p.Arg426Cys)not specified [RCV005344436]uncertain significance410251081025108Humanname
598241952CV3955593single nucleotide variantNM_001004356.3(FGFRL1):c.1361C>G (p.Ala454Gly)not specified [RCV005344437]uncertain significance410251931025193Humanname
598241959CV3955595single nucleotide variantNM_001004356.3(FGFRL1):c.1307C>G (p.Ala436Gly)not specified [RCV005344438]uncertain significance410251391025139Humanname
15175783CV734359single nucleotide variantNM_001004356.3(FGFRL1):c.1349A>G (p.His450Arg)not provided [RCV000906292]likely benign410251811025181Humanname
15151440CV734363single nucleotide variantNM_001004356.3(FGFRL1):c.1481G>A (p.Gly494Asp)not provided [RCV000901365]likely benign410253131025313Humanname
41406593CV980499single nucleotide variantNM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala)Congenital diaphragmatic hernia [RCV001281071]|not provided [RCV001871629]pathogenic|uncertain significance410251601025160Human2name
156152599CV1875211microsatelliteNM_001004356.3(FGFRL1):c.601AAG[2] (p.Lys203del)not provided [RCV003056589]uncertain significance410239831023985Humanname
597939509CV3788555deletionNM_001004356.3(FGFRL1):c.617_618del (p.Leu206fs)not provided [RCV005133230]uncertain significance410240001024001Humanname
156084795CV1993065deletionNM_001004356.3(FGFRL1):c.1468_1469del (p.Ser490fs)not provided [RCV002639018]uncertain significance410252991025300Humanname
156362079CV2016746deletionNM_001004356.3(FGFRL1):c.1468_1471del (p.Ser490fs)not provided [RCV002720933]uncertain significance410252971025300Humanname
405065943CV3144771microsatelliteNM_001004356.3(FGFRL1):c.1464_1467del (p.Ser490fs)not provided [RCV003850548]uncertain significance410252911025294Humanname
405283065CV3216977microsatelliteNM_001004356.3(FGFRL1):c.1454_1455dup (p.Ser486fs)FGFRL1-related disorder [RCV003979125]likely benign410252661025267Humanname , trait , alternate_id
15118512CV734361microsatelliteNM_001004356.3(FGFRL1):c.1452_1455del (p.His485fs)not provided [RCV000895560]likely benign410252671025270Humanname
15144926CV734362microsatelliteNM_001004356.3(FGFRL1):c.1452_1455dup (p.Ser486fs)FGFRL1-related disorder [RCV003912851]|not provided [RCV000900079]likely benign410252661025267Humanname , trait , alternate_id
156008697CV2011317inversionNM_001004356.3(FGFRL1):c.1129_1130inv (p.Trp377Gln)not provided [RCV002690396]uncertain significance410249611024962Humanname