| 597884611 | CV3780530 | single nucleotide variant | NM_001004356.3(FGFRL1):c.79+8C>A | not provided [RCV005124658] | likely benign | 4 | 1012572 | 1012572 | Human | | name |
| 15178782 | CV744060 | single nucleotide variant | NM_001004356.3(FGFRL1):c.80-9C>T | not provided [RCV000906955] | likely benign | 4 | 1022194 | 1022194 | Human | | name |
| 15159534 | CV759477 | single nucleotide variant | NM_001004356.3(FGFRL1):c.80-7C>T | not provided [RCV000925301] | likely benign | 4 | 1022196 | 1022196 | Human | | name |
| 152105401 | CV1559910 | single nucleotide variant | NM_001004356.3(FGFRL1):c.719-7C>T | not provided [RCV002133786] | likely benign | 4 | 1024304 | 1024304 | Human | | name |
| 152109706 | CV1563920 | single nucleotide variant | NM_001004356.3(FGFRL1):c.79+13G>T | not provided [RCV002174179] | likely benign | 4 | 1012577 | 1012577 | Human | | name |
| 156368263 | CV1925923 | single nucleotide variant | NM_001004356.3(FGFRL1):c.353-8C>G | not provided [RCV002633177] | likely benign | 4 | 1023633 | 1023633 | Human | | name |
| 155925279 | CV2099531 | single nucleotide variant | NM_001004356.3(FGFRL1):c.79+20C>T | not provided [RCV002903539] | likely benign | 4 | 1012584 | 1012584 | Human | | name |
| 15150381 | CV759381 | single nucleotide variant | NM_001004356.3(FGFRL1):c.433+7A>T | FGFRL1-related disorder [RCV003960420]|not provided [RCV000923464] | likely benign | 4 | 1023728 | 1023728 | Human | | name , trait , alternate_id |
| 127304070 | CV1154600 | single nucleotide variant | NM_001004356.3(FGFRL1):c.352+16G>A | not provided [RCV001515751] | benign | 4 | 1022491 | 1022491 | Human | | name |
| 127322368 | CV1154601 | single nucleotide variant | NM_001004356.3(FGFRL1):c.433+10G>C | FGFRL1-related disorder [RCV003980636]|not provided [RCV001523505] | benign | 4 | 1023731 | 1023731 | Human | | name , trait , alternate_id |
| 152140849 | CV1520431 | single nucleotide variant | NM_001004356.3(FGFRL1):c.718+17G>A | not provided [RCV002178038] | likely benign | 4 | 1024118 | 1024118 | Human | | name |
| 152139496 | CV1549693 | single nucleotide variant | NM_001004356.3(FGFRL1):c.353-12G>A | not provided [RCV002156575] | likely benign | 4 | 1023629 | 1023629 | Human | | name |
| 152099700 | CV1578632 | single nucleotide variant | NM_001004356.3(FGFRL1):c.433+17G>A | not provided [RCV002151658] | likely benign | 4 | 1023738 | 1023738 | Human | | name |
| 152167291 | CV1600563 | single nucleotide variant | NM_001004356.3(FGFRL1):c.352+16G>C | not provided [RCV002160832] | likely benign | 4 | 1022491 | 1022491 | Human | | name |
| 152129104 | CV1650522 | single nucleotide variant | NM_001004356.3(FGFRL1):c.719-20C>T | not provided [RCV002118840] | likely benign | 4 | 1024291 | 1024291 | Human | | name |
| 156154816 | CV1957575 | single nucleotide variant | NM_001004356.3(FGFRL1):c.353-19C>T | not provided [RCV002573019] | likely benign | 4 | 1023622 | 1023622 | Human | | name |
| 156190491 | CV1961687 | single nucleotide variant | NM_001004356.3(FGFRL1):c.719-11C>T | not provided [RCV002574394] | likely benign | 4 | 1024300 | 1024300 | Human | | name |
| 156285214 | CV1964556 | single nucleotide variant | NM_001004356.3(FGFRL1):c.719-17G>T | not provided [RCV002577613] | likely benign | 4 | 1024294 | 1024294 | Human | | name |
| 156401137 | CV1992000 | single nucleotide variant | NM_001004356.3(FGFRL1):c.353-17C>T | not provided [RCV002605616] | likely benign | 4 | 1023624 | 1023624 | Human | | name |
| 156405835 | CV2004483 | single nucleotide variant | NM_001004356.3(FGFRL1):c.352+15C>T | not provided [RCV002658408] | likely benign | 4 | 1022490 | 1022490 | Human | | name |
| 156123366 | CV2039974 | single nucleotide variant | NM_001004356.3(FGFRL1):c.719-10G>A | not provided [RCV002785879] | likely benign | 4 | 1024301 | 1024301 | Human | | name |
| 156201392 | CV2182867 | single nucleotide variant | NM_001004356.3(FGFRL1):c.352+16G>T | not provided [RCV003024464] | likely benign | 4 | 1022491 | 1022491 | Human | | name |
| 402520270 | CV3126840 | single nucleotide variant | NM_001004356.3(FGFRL1):c.718+14C>T | not provided [RCV003824758] | likely benign | 4 | 1024115 | 1024115 | Human | | name |
| 405290143 | CV3214141 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1072+7G>C | FGFRL1-related disorder [RCV003926976] | likely benign | 4 | 1024671 | 1024671 | Human | | name , trait , alternate_id |
| 597904337 | CV3738280 | single nucleotide variant | NM_001004356.3(FGFRL1):c.434-17G>A | not provided [RCV005072702] | likely benign | 4 | 1023800 | 1023800 | Human | | name |
| 597878467 | CV3763268 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1072+4C>A | not provided [RCV005108863] | uncertain significance | 4 | 1024668 | 1024668 | Human | | name |
| 597925238 | CV3808745 | single nucleotide variant | NM_001004356.3(FGFRL1):c.718+16G>A | not provided [RCV005156259] | likely benign | 4 | 1024117 | 1024117 | Human | | name |
| 597881834 | CV3857499 | single nucleotide variant | NM_001004356.3(FGFRL1):c.434-12C>T | not provided [RCV005199116] | likely benign | 4 | 1023805 | 1023805 | Human | | name |
| 152113299 | CV1586020 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1073-10G>A | not provided [RCV002153340] | likely benign | 4 | 1024895 | 1024895 | Human | | name |
| 155954946 | CV2043961 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1073-11C>T | not provided [RCV002775971] | likely benign | 4 | 1024894 | 1024894 | Human | | name |
| 405144645 | CV3141443 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1072+15C>T | not provided [RCV003839560] | likely benign | 4 | 1024679 | 1024679 | Human | | name |
| 404983308 | CV3184305 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1072+20C>T | not provided [RCV003880797] | likely benign | 4 | 1024684 | 1024684 | Human | | name |
| 15114020 | CV734349 | single nucleotide variant | NM_001004356.3(FGFRL1):c.22C>T (p.Leu8=) | not provided [RCV000894778] | likely benign | 4 | 1012507 | 1012507 | Human | | name |
| 127317238 | CV1154599 | single nucleotide variant | NM_001004356.3(FGFRL1):c.60G>A (p.Pro20=) | FGFRL1-related disorder [RCV003983950]|not provided [RCV001520974] | benign | 4 | 1012545 | 1012545 | Human | | name , trait , alternate_id |
| 127290116 | CV1154602 | deletion | NM_001004356.3(FGFRL1):c.718+34_718+66del | not provided [RCV001509656] | benign | 4 | 1024116 | 1024148 | Human | | name |
| 155909828 | CV1980051 | single nucleotide variant | NM_001004356.3(FGFRL1):c.40C>T (p.Leu14=) | not provided [RCV002613904] | likely benign | 4 | 1012525 | 1012525 | Human | | name |
| 156180985 | CV2068460 | single nucleotide variant | NM_001004356.3(FGFRL1):c.45G>C (p.Leu15=) | not provided [RCV002851834] | likely benign | 4 | 1012530 | 1012530 | Human | | name |
| 156057241 | CV2133930 | single nucleotide variant | NM_001004356.3(FGFRL1):c.75C>T (p.Ala25=) | not provided [RCV003000075] | likely benign | 4 | 1012560 | 1012560 | Human | | name |
| 402501726 | CV3035510 | single nucleotide variant | NM_001004356.3(FGFRL1):c.96G>A (p.Ala32=) | not provided [RCV003714809] | likely benign | 4 | 1022219 | 1022219 | Human | | name |
| 405253572 | CV3048240 | single nucleotide variant | NM_001004356.3(FGFRL1):c.66C>T (p.Ala22=) | not provided [RCV003722593] | likely benign | 4 | 1012551 | 1012551 | Human | | name |
| 151798737 | CV1445808 | single nucleotide variant | NM_001004356.3(FGFRL1):c.13C>T (p.Pro5Ser) | not provided [RCV002011366]|not specified [RCV004046655] | uncertain significance | 4 | 1012498 | 1012498 | Human | | name |
| 156372901 | CV1921004 | single nucleotide variant | NM_001004356.3(FGFRL1):c.171G>A (p.Pro57=) | not provided [RCV002603329] | likely benign | 4 | 1022294 | 1022294 | Human | | name |
| 155915725 | CV1980842 | single nucleotide variant | NM_001004356.3(FGFRL1):c.114G>A (p.Arg38=) | not provided [RCV002614302] | likely benign | 4 | 1022237 | 1022237 | Human | | name |
| 156023401 | CV2015620 | single nucleotide variant | NM_001004356.3(FGFRL1):c.285C>A (p.Gly95=) | not provided [RCV002691109] | likely benign | 4 | 1022408 | 1022408 | Human | | name |
| 156232459 | CV2108388 | single nucleotide variant | NM_001004356.3(FGFRL1):c.285C>T (p.Gly95=) | not provided [RCV002918988] | likely benign | 4 | 1022408 | 1022408 | Human | | name |
| 597965651 | CV3848388 | single nucleotide variant | NM_001004356.3(FGFRL1):c.243G>A (p.Pro81=) | not provided [RCV005194268] | likely benign | 4 | 1022366 | 1022366 | Human | | name |
| 15172097 | CV720683 | single nucleotide variant | NM_001004356.3(FGFRL1):c.192C>T (p.Thr64=) | not provided [RCV000883775] | likely benign | 4 | 1022315 | 1022315 | Human | | name |
| 15104297 | CV720684 | single nucleotide variant | NM_001004356.3(FGFRL1):c.234C>A (p.Arg78=) | not provided [RCV000892855] | benign | 4 | 1022357 | 1022357 | Human | | name |
| 15110181 | CV748595 | single nucleotide variant | NM_001004356.3(FGFRL1):c.216C>T (p.Ser72=) | not provided [RCV000916483] | likely benign | 4 | 1022339 | 1022339 | Human | | name |
| 15104491 | CV748596 | single nucleotide variant | NM_001004356.3(FGFRL1):c.291C>T (p.Tyr97=) | FGFRL1-related disorder [RCV003923221]|not provided [RCV000915362] | likely benign | 4 | 1022414 | 1022414 | Human | | name , trait , alternate_id |
| 15103350 | CV781839 | single nucleotide variant | NM_001004356.3(FGFRL1):c.178C>T (p.Leu60=) | not provided [RCV000976000] | likely benign | 4 | 1022301 | 1022301 | Human | | name |
| 127322372 | CV1154603 | single nucleotide variant | NM_001004356.3(FGFRL1):c.891T>C (p.Asp297=) | FGFRL1-related disorder [RCV003966144]|not provided [RCV001523506] | benign | 4 | 1024483 | 1024483 | Human | | name , trait , alternate_id |
| 151797851 | CV1336944 | single nucleotide variant | NM_001004356.3(FGFRL1):c.489C>A (p.Pro163=) | not provided [RCV002047707] | likely benign|uncertain significance | 4 | 1023872 | 1023872 | Human | | name |
| 151807471 | CV1337121 | single nucleotide variant | NM_001004356.3(FGFRL1):c.88A>G (p.Lys30Glu) | not provided [RCV002028652]|not specified [RCV004917767] | uncertain significance | 4 | 1022211 | 1022211 | Human | | name |
| 151767197 | CV1393947 | single nucleotide variant | NM_001004356.3(FGFRL1):c.76C>G (p.Arg26Gly) | not provided [RCV002008499]|not specified [RCV004043273] | uncertain significance | 4 | 1012561 | 1012561 | Human | | name |
| 151783763 | CV1435137 | single nucleotide variant | NM_001004356.3(FGFRL1):c.74C>T (p.Ala25Val) | not provided [RCV001916118]|not specified [RCV004917743] | uncertain significance | 4 | 1012559 | 1012559 | Human | | name |
| 151874115 | CV1493490 | single nucleotide variant | NM_001004356.3(FGFRL1):c.894G>A (p.Val298=) | not provided [RCV001906854] | likely benign|uncertain significance | 4 | 1024486 | 1024486 | Human | | name |
| 151804724 | CV1503418 | single nucleotide variant | NM_001004356.3(FGFRL1):c.684C>T (p.Gly228=) | not provided [RCV002011884] | likely benign | 4 | 1024067 | 1024067 | Human | | name |
| 152055326 | CV1522029 | single nucleotide variant | NM_001004356.3(FGFRL1):c.987C>T (p.Arg329=) | not provided [RCV002189890] | likely benign | 4 | 1024579 | 1024579 | Human | | name |
| 152171455 | CV1552754 | single nucleotide variant | NM_001004356.3(FGFRL1):c.780C>T (p.Phe260=) | not provided [RCV002143452] | likely benign | 4 | 1024372 | 1024372 | Human | | name |
| 152133742 | CV1607603 | single nucleotide variant | NM_001004356.3(FGFRL1):c.417C>T (p.Pro139=) | not provided [RCV002119417] | likely benign | 4 | 1023705 | 1023705 | Human | | name |
| 152097058 | CV1628009 | single nucleotide variant | NM_001004356.3(FGFRL1):c.858C>T (p.Tyr286=) | not provided [RCV002195060] | likely benign | 4 | 1024450 | 1024450 | Human | | name |
| 152145726 | CV1661807 | single nucleotide variant | NM_001004356.3(FGFRL1):c.315C>T (p.Phe105=) | not provided [RCV002157397] | likely benign | 4 | 1022438 | 1022438 | Human | | name |
| 155942242 | CV1910361 | single nucleotide variant | NM_001004356.3(FGFRL1):c.540C>T (p.Pro180=) | not provided [RCV002615713] | likely benign | 4 | 1023923 | 1023923 | Human | | name |
| 156408125 | CV1911473 | single nucleotide variant | NM_001004356.3(FGFRL1):c.996T>C (p.Asp332=) | not provided [RCV002607126] | likely benign | 4 | 1024588 | 1024588 | Human | | name |
| 156201058 | CV1952350 | single nucleotide variant | NM_001004356.3(FGFRL1):c.714G>T (p.Val238=) | not provided [RCV002574780] | likely benign | 4 | 1024097 | 1024097 | Human | | name |
| 156212383 | CV1955816 | single nucleotide variant | NM_001004356.3(FGFRL1):c.648C>T (p.Ser216=) | not provided [RCV002575200] | likely benign | 4 | 1024031 | 1024031 | Human | | name |
| 156064189 | CV1975312 | single nucleotide variant | NM_001004356.3(FGFRL1):c.522C>G (p.Ala174=) | not provided [RCV002591074] | likely benign | 4 | 1023905 | 1023905 | Human | | name |
| 156039233 | CV1998935 | single nucleotide variant | NM_001004356.3(FGFRL1):c.945C>T (p.Pro315=) | not provided [RCV002658969] | likely benign | 4 | 1024537 | 1024537 | Human | | name |
| 156333664 | CV2112916 | single nucleotide variant | NM_001004356.3(FGFRL1):c.897C>A (p.Gly299=) | not provided [RCV002938506] | likely benign | 4 | 1024489 | 1024489 | Human | | name |
| 156352850 | CV2118785 | single nucleotide variant | NM_001004356.3(FGFRL1):c.327C>T (p.Ser109=) | not provided [RCV002966427] | likely benign | 4 | 1022450 | 1022450 | Human | | name |
| 156262693 | CV2143430 | single nucleotide variant | NM_001004356.3(FGFRL1):c.379C>T (p.Leu127=) | not provided [RCV003008982] | likely benign | 4 | 1023667 | 1023667 | Human | | name |
| 155915907 | CV2149879 | single nucleotide variant | NM_001004356.3(FGFRL1):c.960C>A (p.Leu320=) | not provided [RCV003012593] | likely benign | 4 | 1024552 | 1024552 | Human | | name |
| 156242130 | CV2152649 | single nucleotide variant | NM_001004356.3(FGFRL1):c.399T>C (p.Ser133=) | not provided [RCV003008137] | likely benign | 4 | 1023687 | 1023687 | Human | | name |
| 156299001 | CV2159497 | single nucleotide variant | NM_001004356.3(FGFRL1):c.714G>A (p.Val238=) | not provided [RCV003045461] | likely benign | 4 | 1024097 | 1024097 | Human | | name |
| 401776525 | CV2703263 | single nucleotide variant | NM_001004356.3(FGFRL1):c.34C>T (p.Pro12Ser) | not specified [RCV004315628] | uncertain significance | 4 | 1012519 | 1012519 | Human | | name |
| 405126649 | CV2886540 | single nucleotide variant | NM_001004356.3(FGFRL1):c.990G>A (p.Gln330=) | not provided [RCV003559562] | likely benign | 4 | 1024582 | 1024582 | Human | | name |
| 405215905 | CV3055570 | single nucleotide variant | NM_001004356.3(FGFRL1):c.681G>A (p.Ala227=) | not provided [RCV003732651] | likely benign | 4 | 1024064 | 1024064 | Human | | name |
| 405237070 | CV3076606 | single nucleotide variant | NM_001004356.3(FGFRL1):c.693C>T (p.Asn231=) | not provided [RCV003735994] | likely benign | 4 | 1024076 | 1024076 | Human | | name |
| 405093653 | CV3164166 | single nucleotide variant | NM_001004356.3(FGFRL1):c.80G>T (p.Gly27Val) | not provided [RCV003852481] | uncertain significance | 4 | 1022203 | 1022203 | Human | | name |
| 405236159 | CV3168983 | single nucleotide variant | NM_001004356.3(FGFRL1):c.504G>A (p.Val168=) | not provided [RCV003866262] | likely benign | 4 | 1023887 | 1023887 | Human | | name |
| 404985570 | CV3183727 | single nucleotide variant | NM_001004356.3(FGFRL1):c.300G>A (p.Lys100=) | not provided [RCV003881004] | likely benign | 4 | 1022423 | 1022423 | Human | | name |
| 405854320 | CV3393873 | single nucleotide variant | NM_001004356.3(FGFRL1):c.510C>T (p.Leu170=) | not provided [RCV004547099] | likely benign | 4 | 1023893 | 1023893 | Human | | name |
| 407501719 | CV3439177 | single nucleotide variant | NM_001004356.3(FGFRL1):c.29T>C (p.Leu10Pro) | not specified [RCV004623319] | uncertain significance | 4 | 1012514 | 1012514 | Human | | name |
| 597846214 | CV3736577 | single nucleotide variant | NM_001004356.3(FGFRL1):c.68C>T (p.Ala23Val) | not provided [RCV005065736] | uncertain significance | 4 | 1012553 | 1012553 | Human | | name |
| 597913925 | CV3740570 | single nucleotide variant | NM_001004356.3(FGFRL1):c.897C>T (p.Gly299=) | not provided [RCV005073907] | likely benign | 4 | 1024489 | 1024489 | Human | | name |
| 597953013 | CV3798877 | single nucleotide variant | NM_001004356.3(FGFRL1):c.768G>A (p.Thr256=) | not provided [RCV005136451] | likely benign | 4 | 1024360 | 1024360 | Human | | name |
| 597954601 | CV3809288 | single nucleotide variant | NM_001004356.3(FGFRL1):c.393C>T (p.Ser131=) | not provided [RCV005162012] | likely benign | 4 | 1023681 | 1023681 | Human | | name |
| 597963471 | CV3841540 | single nucleotide variant | NM_001004356.3(FGFRL1):c.52G>A (p.Ala18Thr) | not provided [RCV005193644] | uncertain significance | 4 | 1012537 | 1012537 | Human | | name |
| 597947482 | CV3841867 | single nucleotide variant | NM_001004356.3(FGFRL1):c.477G>C (p.Val159=) | not provided [RCV005189301] | likely benign | 4 | 1023860 | 1023860 | Human | | name |
| 15196344 | CV698317 | single nucleotide variant | NM_001004356.3(FGFRL1):c.501C>T (p.Ser167=) | not provided [RCV000956167] | benign | 4 | 1023884 | 1023884 | Human | | name |
| 15116616 | CV709091 | single nucleotide variant | NM_001004356.3(FGFRL1):c.588C>T (p.Ala196=) | FGFRL1-related disorder [RCV003905844]|not provided [RCV000962066] | benign|likely benign | 4 | 1023971 | 1023971 | Human | | name , trait , alternate_id |
| 15177146 | CV709092 | single nucleotide variant | NM_001004356.3(FGFRL1):c.723G>A (p.Arg241=) | FGFRL1-related disorder [RCV003906060]|not provided [RCV000973354] | benign | 4 | 1024315 | 1024315 | Human | | name , trait , alternate_id |
| 15158252 | CV709093 | single nucleotide variant | NM_001004356.3(FGFRL1):c.828G>A (p.Pro276=) | FGFRL1-related disorder [RCV003972888]|not provided [RCV000969471] | benign | 4 | 1024420 | 1024420 | Human | | name , trait , alternate_id |
| 15166288 | CV720682 | single nucleotide variant | NM_001004356.3(FGFRL1):c.95C>T (p.Ala32Val) | FGFRL1-related disorder [RCV003910410]|not provided [RCV000882600] | benign | 4 | 1022218 | 1022218 | Human | | name , trait , alternate_id |
| 15179990 | CV720686 | single nucleotide variant | NM_001004356.3(FGFRL1):c.738C>T (p.Pro246=) | FGFRL1-related disorder [RCV003920639]|not provided [RCV000885419] | benign | 4 | 1024330 | 1024330 | Human | | name , trait , alternate_id |
| 15153712 | CV734352 | single nucleotide variant | NM_001004356.3(FGFRL1):c.537G>T (p.Arg179=) | not provided [RCV000901813] | likely benign | 4 | 1023920 | 1023920 | Human | | name |
| 15164164 | CV734354 | single nucleotide variant | NM_001004356.3(FGFRL1):c.561C>T (p.Asp187=) | not provided [RCV000903941] | benign | 4 | 1023944 | 1023944 | Human | | name |
| 15159625 | CV734355 | single nucleotide variant | NM_001004356.3(FGFRL1):c.876C>T (p.His292=) | not provided [RCV000902975] | likely benign | 4 | 1024468 | 1024468 | Human | | name |
| 15103474 | CV748597 | single nucleotide variant | NM_001004356.3(FGFRL1):c.309C>T (p.Asn103=) | not provided [RCV000915169] | likely benign | 4 | 1022432 | 1022432 | Human | | name |
| 15199919 | CV748598 | single nucleotide variant | NM_001004356.3(FGFRL1):c.336C>T (p.Tyr112=) | not provided [RCV000912693] | benign|likely benign | 4 | 1022459 | 1022459 | Human | | name |
| 15114207 | CV748602 | single nucleotide variant | NM_001004356.3(FGFRL1):c.516C>T (p.Cys172=) | not provided [RCV000917235] | likely benign | 4 | 1023899 | 1023899 | Human | | name |
| 15115633 | CV748603 | single nucleotide variant | NM_001004356.3(FGFRL1):c.525C>T (p.Ser175=) | not provided [RCV000917488] | likely benign | 4 | 1023908 | 1023908 | Human | | name |
| 15149276 | CV748604 | single nucleotide variant | NM_001004356.3(FGFRL1):c.576G>A (p.Thr192=) | FGFRL1-related disorder [RCV003903023]|not provided [RCV000923256] | benign | 4 | 1023959 | 1023959 | Human | | name , trait , alternate_id |
| 15106698 | CV748605 | single nucleotide variant | NM_001004356.3(FGFRL1):c.616C>T (p.Leu206=) | not provided [RCV000915804] | likely benign | 4 | 1023999 | 1023999 | Human | | name |
| 15162250 | CV748606 | single nucleotide variant | NM_001004356.3(FGFRL1):c.672G>A (p.Ser224=) | not provided [RCV000925852] | benign | 4 | 1024055 | 1024055 | Human | | name |
| 15115753 | CV748607 | single nucleotide variant | NM_001004356.3(FGFRL1):c.873C>T (p.Arg291=) | not provided [RCV000917509] | likely benign | 4 | 1024465 | 1024465 | Human | | name |
| 15198225 | CV748608 | single nucleotide variant | NM_001004356.3(FGFRL1):c.948C>T (p.Asp316=) | FGFRL1-related disorder [RCV003977983]|not provided [RCV000912197] | likely benign | 4 | 1024540 | 1024540 | Human | | name , trait , alternate_id |
| 15197528 | CV748609 | single nucleotide variant | NM_001004356.3(FGFRL1):c.993C>T (p.Asp331=) | not provided [RCV000911998] | likely benign | 4 | 1024585 | 1024585 | Human | | name |
| 15134454 | CV764229 | single nucleotide variant | NM_001004356.3(FGFRL1):c.480C>T (p.Ile160=) | not provided [RCV000942747] | likely benign | 4 | 1023863 | 1023863 | Human | | name |
| 15138724 | CV764230 | single nucleotide variant | NM_001004356.3(FGFRL1):c.864C>T (p.Ala288=) | not provided [RCV000943440] | likely benign | 4 | 1024456 | 1024456 | Human | | name |
| 15104048 | CV781841 | single nucleotide variant | NM_001004356.3(FGFRL1):c.489C>T (p.Pro163=) | not provided [RCV000976140] | likely benign | 4 | 1023872 | 1023872 | Human | | name |
| 151795048 | CV1338491 | single nucleotide variant | NM_001004356.3(FGFRL1):c.283G>A (p.Gly95Ser) | not provided [RCV001898536] | uncertain significance | 4 | 1022406 | 1022406 | Human | | name |
| 151880243 | CV1360004 | single nucleotide variant | NM_001004356.3(FGFRL1):c.292G>A (p.Val98Met) | not provided [RCV002036767]|not specified [RCV004044891] | uncertain significance | 4 | 1022415 | 1022415 | Human | | name |
| 151783397 | CV1370000 | single nucleotide variant | NM_001004356.3(FGFRL1):c.202C>T (p.Arg68Cys) | not provided [RCV001930649] | uncertain significance | 4 | 1022325 | 1022325 | Human | | name |
| 151830670 | CV1384473 | single nucleotide variant | NM_001004356.3(FGFRL1):c.261G>T (p.Lys87Asn) | not provided [RCV001955650] | uncertain significance | 4 | 1022384 | 1022384 | Human | | name |
| 151718823 | CV1397407 | single nucleotide variant | NM_001004356.3(FGFRL1):c.292G>C (p.Val98Leu) | not provided [RCV001982733] | uncertain significance | 4 | 1022415 | 1022415 | Human | | name |
| 151748174 | CV1411971 | single nucleotide variant | NM_001004356.3(FGFRL1):c.117G>C (p.Gln39His) | not provided [RCV001927226] | uncertain significance | 4 | 1022240 | 1022240 | Human | | name |
| 151721215 | CV1421668 | single nucleotide variant | NM_001004356.3(FGFRL1):c.142C>T (p.Arg48Trp) | not provided [RCV001909758] | uncertain significance | 4 | 1022265 | 1022265 | Human | | name |
| 152108520 | CV1550809 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1434C>A (p.Ile478=) | not provided [RCV002152732] | likely benign | 4 | 1025266 | 1025266 | Human | | name |
| 152152243 | CV1559829 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1143C>T (p.Ile381=) | not provided [RCV002220996] | likely benign | 4 | 1024975 | 1024975 | Human | | name |
| 152088105 | CV1594800 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1038C>T (p.Tyr346=) | not provided [RCV002113691] | likely benign | 4 | 1024630 | 1024630 | Human | | name |
| 152086538 | CV1602308 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1233C>G (p.Ala411=) | not provided [RCV002113467] | likely benign | 4 | 1025065 | 1025065 | Human | | name |
| 152088245 | CV1638875 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1266G>A (p.Thr422=) | not provided [RCV002150243] | likely benign | 4 | 1025098 | 1025098 | Human | | name |
| 156286115 | CV1897138 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1378C>T (p.Leu460=) | not provided [RCV003087292] | likely benign | 4 | 1025210 | 1025210 | Human | | name |
| 156290108 | CV1897403 | single nucleotide variant | NM_001004356.3(FGFRL1):c.173C>T (p.Pro58Leu) | not provided [RCV002598718] | uncertain significance | 4 | 1022296 | 1022296 | Human | | name |
| 156445025 | CV1949144 | single nucleotide variant | NM_001004356.3(FGFRL1):c.113G>A (p.Arg38Gln) | not provided [RCV003115959] | likely benign | 4 | 1022236 | 1022236 | Human | | name |
| 156302772 | CV1955663 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1272C>T (p.Arg424=) | not provided [RCV002578300] | likely benign | 4 | 1025104 | 1025104 | Human | | name |
| 156322904 | CV1979014 | single nucleotide variant | NM_001004356.3(FGFRL1):c.233G>A (p.Arg78His) | not provided [RCV002630467] | uncertain significance | 4 | 1022356 | 1022356 | Human | | name |
| 155954102 | CV2043906 | single nucleotide variant | NM_001004356.3(FGFRL1):c.160G>A (p.Glu54Lys) | not provided [RCV002775929] | uncertain significance | 4 | 1022283 | 1022283 | Human | | name |
| 155951040 | CV2046736 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1215G>A (p.Pro405=) | not provided [RCV002775779] | likely benign | 4 | 1025047 | 1025047 | Human | | name |
| 156253039 | CV2117076 | single nucleotide variant | NM_001004356.3(FGFRL1):c.286G>A (p.Val96Met) | not provided [RCV002933620] | uncertain significance | 4 | 1022409 | 1022409 | Human | | name |
| 156153461 | CV2131907 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1158C>T (p.Gly386=) | not provided [RCV002982736] | likely benign | 4 | 1024990 | 1024990 | Human | | name |
| 401721594 | CV2683577 | single nucleotide variant | NM_001004356.3(FGFRL1):c.242C>T (p.Pro81Leu) | not specified [RCV004282506] | uncertain significance | 4 | 1022365 | 1022365 | Human | | name |
| 401880282 | CV2766187 | single nucleotide variant | NM_001004356.3(FGFRL1):c.238C>A (p.Leu80Met) | not specified [RCV004340630] | uncertain significance | 4 | 1022361 | 1022361 | Human | | name |
| 402475804 | CV2916813 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1389C>G (p.Gly463=) | not provided [RCV003571403] | likely benign | 4 | 1025221 | 1025221 | Human | | name |
| 402491982 | CV2981156 | single nucleotide variant | NM_001004356.3(FGFRL1):c.227G>C (p.Arg76Pro) | not provided [RCV003713865] | uncertain significance | 4 | 1022350 | 1022350 | Human | | name |
| 402513593 | CV2991469 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1431C>T (p.Asp477=) | not provided [RCV003689750] | likely benign | 4 | 1025263 | 1025263 | Human | | name |
| 405129170 | CV3054330 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1278C>T (p.Arg426=) | not provided [RCV003724584] | likely benign | 4 | 1025110 | 1025110 | Human | | name |
| 405215742 | CV3124619 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1497C>T (p.His499=) | not provided [RCV003823981] | likely benign | 4 | 1025329 | 1025329 | Human | | name |
| 405274567 | CV3208949 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1359G>A (p.Pro453=) | FGFRL1-related disorder [RCV003951726]|not provided [RCV005101842] | likely benign | 4 | 1025191 | 1025191 | Human | | name , trait , alternate_id |
| 405292809 | CV3217617 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1224C>T (p.Pro408=) | FGFRL1-related disorder [RCV003964781]|not provided [RCV005103100] | likely benign | 4 | 1025056 | 1025056 | Human | | name , trait , alternate_id |
| 408367349 | CV3511093 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1335G>A (p.Gly445=) | FGFRL1-related disorder [RCV004758398] | likely benign | 4 | 1025167 | 1025167 | Human | | name , trait , alternate_id |
| 597752098 | CV3672764 | single nucleotide variant | NM_001004356.3(FGFRL1):c.216C>A (p.Ser72Arg) | not specified [RCV004923852] | uncertain significance | 4 | 1022339 | 1022339 | Human | | name |
| 597752103 | CV3672765 | single nucleotide variant | NM_001004356.3(FGFRL1):c.133C>T (p.Arg45Cys) | not provided [RCV005110269]|not specified [RCV004923853] | uncertain significance | 4 | 1022256 | 1022256 | Human | | name |
| 597891436 | CV3749380 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1317C>T (p.Ser439=) | not provided [RCV005071164] | likely benign | 4 | 1025149 | 1025149 | Human | | name |
| 597967682 | CV3760704 | single nucleotide variant | NM_001004356.3(FGFRL1):c.232C>T (p.Arg78Cys) | not provided [RCV005083271] | uncertain significance | 4 | 1022355 | 1022355 | Human | | name |
| 597945378 | CV3807326 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1176C>G (p.Gly392=) | not provided [RCV005159961] | likely benign | 4 | 1025008 | 1025008 | Human | | name |
| 597958326 | CV3814803 | single nucleotide variant | NM_001004356.3(FGFRL1):c.245A>G (p.Gln82Arg) | not provided [RCV005162928] | uncertain significance | 4 | 1022368 | 1022368 | Human | | name |
| 597965627 | CV3848382 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1338G>A (p.Leu446=) | not provided [RCV005194262] | likely benign | 4 | 1025170 | 1025170 | Human | | name |
| 597912311 | CV3850656 | single nucleotide variant | NM_001004356.3(FGFRL1):c.131G>A (p.Gly44Asp) | not provided [RCV005203804] | uncertain significance | 4 | 1022254 | 1022254 | Human | | name |
| 15194751 | CV720687 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1302G>C (p.Ser434=) | not provided [RCV000889306] | likely benign | 4 | 1025134 | 1025134 | Human | | name |
| 15134152 | CV734356 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1134C>T (p.Pro378=) | not provided [RCV000898242] | likely benign | 4 | 1024966 | 1024966 | Human | | name |
| 15192035 | CV734357 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1155C>T (p.Ala385=) | not provided [RCV000910420] | likely benign | 4 | 1024987 | 1024987 | Human | | name |
| 15187348 | CV734358 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1347G>A (p.Glu449=) | not provided [RCV000909065] | likely benign | 4 | 1025179 | 1025179 | Human | | name |
| 15146692 | CV734360 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1383C>T (p.Gly461=) | not provided [RCV000900370] | likely benign | 4 | 1025215 | 1025215 | Human | | name |
| 15154534 | CV748610 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1020C>T (p.Gly340=) | not provided [RCV000924278] | likely benign | 4 | 1024612 | 1024612 | Human | | name |
| 15151755 | CV748611 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1059C>A (p.Leu353=) | not provided [RCV000923740] | likely benign | 4 | 1024651 | 1024651 | Human | | name |
| 15197532 | CV748612 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1227G>A (p.Ala409=) | FGFRL1-related disorder [RCV003968408]|not provided [RCV000911999] | benign | 4 | 1025059 | 1025059 | Human | | name , trait , alternate_id |
| 15202809 | CV748613 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1251C>T (p.His417=) | not provided [RCV000913554] | benign | 4 | 1025083 | 1025083 | Human | | name |
| 15149281 | CV748614 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1257G>A (p.Pro419=) | not provided [RCV000923257] | likely benign | 4 | 1025089 | 1025089 | Human | | name |
| 15194225 | CV748615 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1260G>A (p.Pro420=) | not provided [RCV000911064] | likely benign | 4 | 1025092 | 1025092 | Human | | name |
| 15145330 | CV748616 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1302G>A (p.Ser434=) | not provided [RCV000922523] | likely benign | 4 | 1025134 | 1025134 | Human | | name |
| 15100521 | CV781842 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1263G>C (p.Gly421=) | not provided [RCV000975423] | likely benign | 4 | 1025095 | 1025095 | Human | | name |
| 25317027 | CV805002 | single nucleotide variant | NM_001004356.3(FGFRL1):c.124C>T (p.Arg42Trp) | Flexion contracture [RCV001007784]|not provided [RCV003727836] | uncertain significance | 4 | 1022247 | 1022247 | Human | 2 | name |
| 126733545 | CV1004992 | single nucleotide variant | NM_001004356.3(FGFRL1):c.442C>T (p.Arg148Cys) | not provided [RCV001313415] | uncertain significance | 4 | 1023825 | 1023825 | Human | | name |
| 151847109 | CV1339170 | single nucleotide variant | NM_001004356.3(FGFRL1):c.878A>G (p.Asn293Ser) | not provided [RCV001995479] | uncertain significance | 4 | 1024470 | 1024470 | Human | | name |
| 151855811 | CV1356291 | single nucleotide variant | NM_001004356.3(FGFRL1):c.388G>A (p.Asp130Asn) | not provided [RCV001923381] | uncertain significance | 4 | 1023676 | 1023676 | Human | | name |
| 151778417 | CV1370670 | single nucleotide variant | NM_001004356.3(FGFRL1):c.609G>C (p.Lys203Asn) | not provided [RCV001864735] | uncertain significance | 4 | 1023992 | 1023992 | Human | | name |
| 151756511 | CV1381881 | single nucleotide variant | NM_001004356.3(FGFRL1):c.676C>T (p.Arg226Cys) | not provided [RCV001969714] | uncertain significance | 4 | 1024059 | 1024059 | Human | | name |
| 151764354 | CV1387311 | single nucleotide variant | NM_001004356.3(FGFRL1):c.368G>A (p.Gly123Glu) | not provided [RCV001987628]|not specified [RCV004043769] | uncertain significance | 4 | 1023656 | 1023656 | Human | | name |
| 151866345 | CV1392913 | single nucleotide variant | NM_001004356.3(FGFRL1):c.575C>T (p.Thr192Met) | not provided [RCV001939205]|not specified [RCV004041920] | uncertain significance | 4 | 1023958 | 1023958 | Human | | name |
| 151877125 | CV1395383 | single nucleotide variant | NM_001004356.3(FGFRL1):c.973A>G (p.Ile325Val) | not provided [RCV002019671] | uncertain significance | 4 | 1024565 | 1024565 | Human | | name |
| 151830528 | CV1405449 | single nucleotide variant | NM_001004356.3(FGFRL1):c.986G>A (p.Arg329His) | not provided [RCV001901766] | uncertain significance | 4 | 1024578 | 1024578 | Human | | name |
| 151821994 | CV1418650 | single nucleotide variant | NM_001004356.3(FGFRL1):c.944C>A (p.Pro315His) | not provided [RCV001954847] | uncertain significance | 4 | 1024536 | 1024536 | Human | | name |
| 151817444 | CV1427418 | single nucleotide variant | NM_001004356.3(FGFRL1):c.418G>A (p.Ala140Thr) | not provided [RCV001878887] | uncertain significance | 4 | 1023706 | 1023706 | Human | | name |
| 151842602 | CV1438384 | single nucleotide variant | NM_001004356.3(FGFRL1):c.848G>A (p.Arg283His) | not provided [RCV001921714] | uncertain significance | 4 | 1024440 | 1024440 | Human | | name |
| 151755479 | CV1449248 | single nucleotide variant | NM_001004356.3(FGFRL1):c.685G>A (p.Ala229Thr) | not provided [RCV001986711]|not specified [RCV004045419] | uncertain significance | 4 | 1024068 | 1024068 | Human | | name |
| 151834938 | CV1463170 | single nucleotide variant | NM_001004356.3(FGFRL1):c.664C>T (p.Arg222Cys) | not provided [RCV001880680]|not specified [RCV004040585] | uncertain significance | 4 | 1024047 | 1024047 | Human | | name |
| 151870705 | CV1477016 | single nucleotide variant | NM_001004356.3(FGFRL1):c.867G>T (p.Glu289Asp) | not provided [RCV001925170]|not specified [RCV004917742] | uncertain significance | 4 | 1024459 | 1024459 | Human | | name |
| 151787616 | CV1479118 | single nucleotide variant | NM_001004356.3(FGFRL1):c.485G>C (p.Arg162Pro) | not provided [RCV002046783]|not specified [RCV004038825] | uncertain significance | 4 | 1023868 | 1023868 | Human | | name |
| 151818071 | CV1482058 | single nucleotide variant | NM_001004356.3(FGFRL1):c.323T>G (p.Leu108Arg) | not provided [RCV002029615] | uncertain significance | 4 | 1022446 | 1022446 | Human | | name |
| 151869489 | CV1511035 | single nucleotide variant | NM_001004356.3(FGFRL1):c.577C>T (p.Arg193Cys) | not provided [RCV001998145]|not specified [RCV004917756] | uncertain significance | 4 | 1023960 | 1023960 | Human | | name |
| 152035338 | CV1552915 | single nucleotide variant | NM_001004356.3(FGFRL1):c.980G>A (p.Arg327His) | not provided [RCV002187398]|not specified [RCV004045539] | likely benign|uncertain significance | 4 | 1024572 | 1024572 | Human | | name |
| 156395396 | CV1877111 | single nucleotide variant | NM_001004356.3(FGFRL1):c.473G>A (p.Arg158Gln) | not provided [RCV003068530] | uncertain significance | 4 | 1023856 | 1023856 | Human | | name |
| 156405072 | CV1883692 | single nucleotide variant | NM_001004356.3(FGFRL1):c.589G>A (p.Ala197Thr) | not provided [RCV003069906] | uncertain significance | 4 | 1023972 | 1023972 | Human | | name |
| 156133721 | CV1905521 | single nucleotide variant | NM_001004356.3(FGFRL1):c.665G>A (p.Arg222His) | not provided [RCV003081938] | uncertain significance | 4 | 1024048 | 1024048 | Human | | name |
| 156314170 | CV1907021 | single nucleotide variant | NM_001004356.3(FGFRL1):c.502G>A (p.Val168Met) | not provided [RCV003088621] | uncertain significance | 4 | 1023885 | 1023885 | Human | | name |
| 155946409 | CV1947730 | single nucleotide variant | NM_001004356.3(FGFRL1):c.677G>A (p.Arg226His) | not provided [RCV003108182]|not specified [RCV004128726] | uncertain significance | 4 | 1024060 | 1024060 | Human | | name |
| 156382913 | CV2005102 | single nucleotide variant | NM_001004356.3(FGFRL1):c.962A>G (p.Asn321Ser) | not provided [RCV002653783] | uncertain significance | 4 | 1024554 | 1024554 | Human | | name |
| 156021301 | CV2040654 | single nucleotide variant | NM_001004356.3(FGFRL1):c.898G>A (p.Gly300Ser) | not provided [RCV002795600]|not specified [RCV004064788] | uncertain significance | 4 | 1024490 | 1024490 | Human | | name |
| 155935611 | CV2045723 | single nucleotide variant | NM_001004356.3(FGFRL1):c.412G>A (p.Asp138Asn) | not provided [RCV002751433] | uncertain significance | 4 | 1023700 | 1023700 | Human | | name |
| 156007185 | CV2099815 | single nucleotide variant | NM_001004356.3(FGFRL1):c.490G>A (p.Val164Met) | not provided [RCV002908912] | uncertain significance | 4 | 1023873 | 1023873 | Human | | name |
| 156097419 | CV2102988 | single nucleotide variant | NM_001004356.3(FGFRL1):c.304A>G (p.Thr102Ala) | not provided [RCV002913271] | uncertain significance | 4 | 1022427 | 1022427 | Human | | name |
| 156025020 | CV2112384 | single nucleotide variant | NM_001004356.3(FGFRL1):c.505C>T (p.Arg169Trp) | not provided [RCV002909796] | uncertain significance | 4 | 1023888 | 1023888 | Human | | name |
| 156331596 | CV2112715 | single nucleotide variant | NM_001004356.3(FGFRL1):c.343G>A (p.Val115Ile) | not provided [RCV002938400]|not specified [RCV004067095] | likely benign|uncertain significance | 4 | 1022466 | 1022466 | Human | | name |
| 155993529 | CV2112808 | single nucleotide variant | NM_001004356.3(FGFRL1):c.865G>A (p.Glu289Lys) | FGFRL1-related disorder [RCV003963442]|not provided [RCV002947445]|not specified [RCV004067098] | uncertain significance | 4 | 1024457 | 1024457 | Human | | name , trait , alternate_id |
| 156199848 | CV2113869 | single nucleotide variant | NM_001004356.3(FGFRL1):c.991G>A (p.Asp331Asn) | not provided [RCV002957339] | uncertain significance | 4 | 1024583 | 1024583 | Human | | name |
| 156106374 | CV2120918 | single nucleotide variant | NM_001004356.3(FGFRL1):c.938C>T (p.Ser313Leu) | not provided [RCV002952929]|not specified [RCV004067271] | uncertain significance | 4 | 1024530 | 1024530 | Human | | name |
| 156018075 | CV2121523 | single nucleotide variant | NM_001004356.3(FGFRL1):c.506G>A (p.Arg169Gln) | not provided [RCV002948634] | uncertain significance | 4 | 1023889 | 1023889 | Human | | name |
| 156091736 | CV2135580 | single nucleotide variant | NM_001004356.3(FGFRL1):c.346G>A (p.Val116Met) | not provided [RCV003001857] | uncertain significance | 4 | 1022469 | 1022469 | Human | | name |
| 156205447 | CV2146773 | single nucleotide variant | NM_001004356.3(FGFRL1):c.415C>T (p.Pro139Ser) | not provided [RCV003006478] | uncertain significance | 4 | 1023703 | 1023703 | Human | | name |
| 156314788 | CV2160746 | single nucleotide variant | NM_001004356.3(FGFRL1):c.524G>A (p.Ser175Asn) | not provided [RCV003046236] | uncertain significance | 4 | 1023907 | 1023907 | Human | | name |
| 155921658 | CV2208555 | single nucleotide variant | NM_001004356.3(FGFRL1):c.586G>T (p.Ala196Ser) | not specified [RCV004091084] | uncertain significance | 4 | 1023969 | 1023969 | Human | | name |
| 156121529 | CV2240869 | single nucleotide variant | NM_001004356.3(FGFRL1):c.469C>T (p.Arg157Cys) | not specified [RCV004102158] | uncertain significance | 4 | 1023852 | 1023852 | Human | | name |
| 156077435 | CV2291634 | single nucleotide variant | NM_001004356.3(FGFRL1):c.817G>A (p.Asp273Asn) | not specified [RCV004155924] | uncertain significance | 4 | 1024409 | 1024409 | Human | | name |
| 156263718 | CV2315027 | single nucleotide variant | NM_001004356.3(FGFRL1):c.850G>A (p.Val284Met) | not specified [RCV004164941] | uncertain significance | 4 | 1024442 | 1024442 | Human | | name |
| 156166092 | CV2315209 | single nucleotide variant | NM_001004356.3(FGFRL1):c.521C>T (p.Ala174Val) | not specified [RCV004165379] | uncertain significance | 4 | 1023904 | 1023904 | Human | | name |
| 156328747 | CV2332306 | single nucleotide variant | NM_001004356.3(FGFRL1):c.686C>T (p.Ala229Val) | not specified [RCV004182476] | uncertain significance | 4 | 1024069 | 1024069 | Human | | name |
| 156134945 | CV2347165 | single nucleotide variant | NM_001004356.3(FGFRL1):c.680C>T (p.Ala227Val) | not provided [RCV003689034]|not specified [RCV004204641] | uncertain significance | 4 | 1024063 | 1024063 | Human | | name |
| 156348605 | CV2383150 | single nucleotide variant | NM_001004356.3(FGFRL1):c.470G>A (p.Arg157His) | not provided [RCV005099080]|not specified [RCV004219764] | uncertain significance | 4 | 1023853 | 1023853 | Human | | name |
| 401750874 | CV2715792 | single nucleotide variant | NM_001004356.3(FGFRL1):c.344T>C (p.Val115Ala) | not specified [RCV004328924] | uncertain significance | 4 | 1022467 | 1022467 | Human | | name |
| 401862525 | CV2762187 | single nucleotide variant | NM_001004356.3(FGFRL1):c.517G>A (p.Val173Met) | not provided [RCV003561317]|not specified [RCV004335318] | uncertain significance | 4 | 1023900 | 1023900 | Human | | name |
| 401877868 | CV2786833 | single nucleotide variant | NM_001004356.3(FGFRL1):c.919C>T (p.Pro307Ser) | not specified [RCV004365994] | uncertain significance | 4 | 1024511 | 1024511 | Human | | name |
| 401923379 | CV2822307 | single nucleotide variant | NM_001004356.3(FGFRL1):c.767C>T (p.Thr256Met) | not provided [RCV003434918] | uncertain significance | 4 | 1024359 | 1024359 | Human | | name |
| 404979403 | CV2850103 | single nucleotide variant | NM_001004356.3(FGFRL1):c.929A>C (p.Asp310Ala) | not provided [RCV003487821] | uncertain significance | 4 | 1024521 | 1024521 | Human | | name |
| 405124361 | CV2885231 | single nucleotide variant | NM_001004356.3(FGFRL1):c.415C>A (p.Pro139Thr) | not provided [RCV003559345]|not specified [RCV004369173] | uncertain significance | 4 | 1023703 | 1023703 | Human | | name |
| 402497242 | CV2906022 | single nucleotide variant | NM_001004356.3(FGFRL1):c.940C>T (p.Arg314Trp) | not provided [RCV003573627] | uncertain significance | 4 | 1024532 | 1024532 | Human | | name |
| 402502218 | CV3035599 | single nucleotide variant | NM_001004356.3(FGFRL1):c.512A>G (p.Lys171Arg) | not provided [RCV003714862] | uncertain significance | 4 | 1023895 | 1023895 | Human | | name |
| 402521898 | CV3126960 | single nucleotide variant | NM_001004356.3(FGFRL1):c.721C>T (p.Arg241Trp) | not provided [RCV003824878] | uncertain significance | 4 | 1024313 | 1024313 | Human | | name |
| 402481624 | CV3170824 | single nucleotide variant | NM_001004356.3(FGFRL1):c.985C>T (p.Arg329Cys) | not provided [RCV003876027] | uncertain significance | 4 | 1024577 | 1024577 | Human | | name |
| 405760414 | CV3250265 | single nucleotide variant | NM_001004356.3(FGFRL1):c.326G>A (p.Ser109Asn) | not specified [RCV004394157] | uncertain significance | 4 | 1022449 | 1022449 | Human | | name |
| 405760420 | CV3250266 | single nucleotide variant | NM_001004356.3(FGFRL1):c.365C>G (p.Pro122Arg) | not specified [RCV004394158] | uncertain significance | 4 | 1023653 | 1023653 | Human | | name |
| 405760426 | CV3250267 | single nucleotide variant | NM_001004356.3(FGFRL1):c.437G>A (p.Arg146Gln) | not specified [RCV004394159] | uncertain significance | 4 | 1023820 | 1023820 | Human | | name |
| 405760433 | CV3250268 | single nucleotide variant | NM_001004356.3(FGFRL1):c.638C>T (p.Pro213Leu) | not specified [RCV004394160] | uncertain significance | 4 | 1024021 | 1024021 | Human | | name |
| 405760438 | CV3250269 | single nucleotide variant | NM_001004356.3(FGFRL1):c.946G>A (p.Asp316Asn) | not specified [RCV004394161] | uncertain significance | 4 | 1024538 | 1024538 | Human | | name |
| 407501714 | CV3439176 | single nucleotide variant | NM_001004356.3(FGFRL1):c.998C>T (p.Ala333Val) | not specified [RCV004623318] | uncertain significance | 4 | 1024590 | 1024590 | Human | | name |
| 597752072 | CV3672759 | single nucleotide variant | NM_001004356.3(FGFRL1):c.364C>G (p.Pro122Ala) | not specified [RCV004923847] | uncertain significance | 4 | 1023652 | 1023652 | Human | | name |
| 597752082 | CV3672761 | single nucleotide variant | NM_001004356.3(FGFRL1):c.562G>A (p.Asp188Asn) | not specified [RCV004923849] | uncertain significance | 4 | 1023945 | 1023945 | Human | | name |
| 597752093 | CV3672763 | single nucleotide variant | NM_001004356.3(FGFRL1):c.979C>T (p.Arg327Cys) | not specified [RCV004923851] | uncertain significance | 4 | 1024571 | 1024571 | Human | | name |
| 597752120 | CV3672768 | single nucleotide variant | NM_001004356.3(FGFRL1):c.634C>T (p.Arg212Trp) | not specified [RCV004923856] | uncertain significance | 4 | 1024017 | 1024017 | Human | | name |
| 597901738 | CV3741389 | single nucleotide variant | NM_001004356.3(FGFRL1):c.847C>T (p.Arg283Cys) | not provided [RCV005072360] | uncertain significance | 4 | 1024439 | 1024439 | Human | | name |
| 597830772 | CV3743312 | single nucleotide variant | NM_001004356.3(FGFRL1):c.589G>T (p.Ala197Ser) | not provided [RCV005062320] | uncertain significance | 4 | 1023972 | 1023972 | Human | | name |
| 597910368 | CV3749616 | single nucleotide variant | NM_001004356.3(FGFRL1):c.316G>A (p.Gly106Ser) | not provided [RCV005073464] | uncertain significance | 4 | 1022439 | 1022439 | Human | | name |
| 597834528 | CV3760768 | single nucleotide variant | NM_001004356.3(FGFRL1):c.820G>A (p.Val274Met) | not provided [RCV005085319] | uncertain significance | 4 | 1024412 | 1024412 | Human | | name |
| 597970629 | CV3802027 | single nucleotide variant | NM_001004356.3(FGFRL1):c.658A>C (p.Thr220Pro) | not provided [RCV005141819] | uncertain significance | 4 | 1024041 | 1024041 | Human | | name |
| 597970380 | CV3832457 | single nucleotide variant | NM_001004356.3(FGFRL1):c.850G>T (p.Val284Leu) | not provided [RCV005166536] | uncertain significance | 4 | 1024442 | 1024442 | Human | | name |
| 598241938 | CV3955591 | single nucleotide variant | NM_001004356.3(FGFRL1):c.727C>T (p.Arg243Cys) | not specified [RCV005344435] | uncertain significance | 4 | 1024319 | 1024319 | Human | | name |
| 598272058 | CV3955594 | single nucleotide variant | NM_001004356.3(FGFRL1):c.868G>A (p.Gly290Ser) | not specified [RCV005327880] | uncertain significance | 4 | 1024460 | 1024460 | Human | | name |
| 598272064 | CV3955596 | single nucleotide variant | NM_001004356.3(FGFRL1):c.838T>C (p.Trp280Arg) | not specified [RCV005327881] | uncertain significance | 4 | 1024430 | 1024430 | Human | | name |
| 15165502 | CV709090 | single nucleotide variant | NM_001004356.3(FGFRL1):c.578G>A (p.Arg193His) | not provided [RCV000970963] | likely benign | 4 | 1023961 | 1023961 | Human | | name |
| 15160598 | CV734353 | single nucleotide variant | NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) | 4p partial monosomy syndrome [RCV002495461]|FGFRL1-related disorder [RCV003932857]|not provided [RCV000903177] | benign|likely benign | 4 | 1023924 | 1023924 | Human | 2 | name , trait , alternate_id |
| 38597040 | CV801801 | single nucleotide variant | NM_001004356.3(FGFRL1):c.335A>G (p.Tyr112Cys) | Microcephaly [RCV001252843]|not specified [RCV004619479] | uncertain significance | 4 | 1022458 | 1022458 | Human | 2 | name |
| 38463721 | CV918868 | single nucleotide variant | NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) | 4p partial monosomy syndrome [RCV001199252] | uncertain significance | 4 | 1024434 | 1024434 | Human | 2 | name |
| 41406592 | CV980498 | single nucleotide variant | NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) | Congenital diaphragmatic hernia [RCV001281070]|not provided [RCV002541759] | pathogenic|uncertain significance | 4 | 1024478 | 1024478 | Human | 2 | name |
| 126760676 | CV989825 | single nucleotide variant | NM_001004356.3(FGFRL1):c.812G>A (p.Arg271His) | not provided [RCV001309385] | uncertain significance | 4 | 1024404 | 1024404 | Human | | name |
| 127290166 | CV1154604 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln) | not provided [RCV001509690] | benign | 4 | 1024917 | 1024917 | Human | 2 | name |
| 127290166 | CV1154604 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1085C>A (p.Pro362Gln) | not provided [RCV001509690] | benign | 4 | 1024917 | 1024918 | Human | 2 | name |
| 127320289 | CV1154605 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1271G>T (p.Arg424Leu) | FGFRL1-related disorder [RCV003980625]|not provided [RCV001522570] | benign | 4 | 1025103 | 1025103 | Human | | name , trait , alternate_id |
| 127318700 | CV1154606 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu) | not provided [RCV001521785] | benign | 4 | 1025223 | 1025223 | Human | 1 | name |
| 127318700 | CV1154606 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1391C>T (p.Pro464Leu) | not provided [RCV001521785] | benign | 4 | 1025223 | 1025224 | Human | 1 | name |
| 151853850 | CV1349363 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1390C>G (p.Pro464Ala) | not provided [RCV001923146] | uncertain significance | 4 | 1025222 | 1025222 | Human | | name |
| 151830978 | CV1354210 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1423T>C (p.Tyr475His) | not provided [RCV001880306] | uncertain significance | 4 | 1025255 | 1025255 | Human | | name |
| 151736011 | CV1354794 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1330G>A (p.Val444Met) | not provided [RCV001892764] | uncertain significance | 4 | 1025162 | 1025162 | Human | | name |
| 151882008 | CV1371105 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1354T>G (p.Ser452Ala) | not provided [RCV001886643] | uncertain significance | 4 | 1025186 | 1025186 | Human | | name |
| 151852275 | CV1385040 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1214C>T (p.Pro405Leu) | not provided [RCV001958155]|not specified [RCV004616908] | uncertain significance | 4 | 1025046 | 1025046 | Human | | name |
| 151857517 | CV1408102 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1436A>C (p.His479Pro) | not provided [RCV001883505]|not specified [RCV005341117] | uncertain significance | 4 | 1025268 | 1025268 | Human | | name |
| 151823426 | CV1412164 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1099G>T (p.Ala367Ser) | not provided [RCV001901107] | uncertain significance | 4 | 1024931 | 1024931 | Human | | name |
| 151771716 | CV1417740 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1256C>A (p.Pro419Gln) | not provided [RCV001874516] | uncertain significance | 4 | 1025088 | 1025088 | Human | | name |
| 151764103 | CV1418524 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1270C>T (p.Arg424Cys) | not provided [RCV001928861]|not specified [RCV004044201] | uncertain significance | 4 | 1025102 | 1025102 | Human | | name |
| 151887256 | CV1426694 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1463C>T (p.Thr488Ile) | not provided [RCV002038150] | uncertain significance | 4 | 1025295 | 1025295 | Human | | name |
| 151776030 | CV1449811 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1457C>G (p.Ser486Cys) | not provided [RCV001864522] | uncertain significance | 4 | 1025289 | 1025289 | Human | | name |
| 151883900 | CV1452508 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1435C>G (p.His479Asp) | not provided [RCV002037440]|not specified [RCV004917726] | uncertain significance | 4 | 1025267 | 1025267 | Human | | name |
| 151778944 | CV1463409 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1454A>T (p.His485Leu) | not provided [RCV001875174] | uncertain significance | 4 | 1025286 | 1025286 | Human | | name |
| 151892452 | CV1481125 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1264A>T (p.Thr422Ser) | not provided [RCV001944128]|not specified [RCV004042068] | uncertain significance | 4 | 1025096 | 1025096 | Human | | name |
| 152075913 | CV1528363 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1391C>A (p.Pro464Gln) | not provided [RCV002112101] | likely benign | 4 | 1025223 | 1025223 | Human | | name |
| 152030771 | CV1580877 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1474G>A (p.Val492Met) | FGFRL1-related disorder [RCV003913779]|not provided [RCV002086217] | benign | 4 | 1025306 | 1025306 | Human | | name , trait , alternate_id |
| 156151997 | CV1896023 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1271G>A (p.Arg424His) | not provided [RCV003082583] | uncertain significance | 4 | 1025103 | 1025103 | Human | | name |
| 156228427 | CV1896551 | microsatellite | NM_001004356.3(FGFRL1):c.64GCC[3] (p.Ala25del) | not provided [RCV003085267] | uncertain significance | 4 | 1012549 | 1012551 | Human | | name |
| 156298508 | CV1924264 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1252C>T (p.Arg418Cys) | not provided [RCV002629129] | uncertain significance | 4 | 1025084 | 1025084 | Human | | name |
| 156364134 | CV1932013 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1273G>A (p.Asp425Asn) | not provided [RCV002632886]|not specified [RCV004917829] | uncertain significance | 4 | 1025105 | 1025105 | Human | | name |
| 156443836 | CV1941104 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1259C>A (p.Pro420Gln) | not provided [RCV003114745]|not specified [RCV004917835] | uncertain significance | 4 | 1025091 | 1025091 | Human | | name |
| 156437722 | CV1947737 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1366C>T (p.Pro456Ser) | FGFRL1-related disorder [RCV003963804]|not provided [RCV003107264] | likely benign | 4 | 1025198 | 1025198 | Human | | name , trait , alternate_id |
| 156048552 | CV1978155 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1126C>T (p.Pro376Ser) | not provided [RCV002590582] | uncertain significance | 4 | 1024958 | 1024958 | Human | | name |
| 156395900 | CV1980444 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1117A>G (p.Thr373Ala) | not provided [RCV002605126] | uncertain significance | 4 | 1024949 | 1024949 | Human | | name |
| 156400824 | CV1982301 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1135G>A (p.Val379Met) | not provided [RCV002635952] | uncertain significance | 4 | 1024967 | 1024967 | Human | | name |
| 155939651 | CV1995915 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1192C>G (p.Leu398Val) | not provided [RCV002685377] | uncertain significance | 4 | 1025024 | 1025024 | Human | | name |
| 156351568 | CV1997741 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1433T>C (p.Ile478Thr) | not provided [RCV002675631] | uncertain significance | 4 | 1025265 | 1025265 | Human | | name |
| 156337017 | CV2110186 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1112C>T (p.Ser371Leu) | not provided [RCV002938693]|not specified [RCV004067212] | uncertain significance | 4 | 1024944 | 1024944 | Human | | name |
| 155941209 | CV2114869 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1347G>C (p.Glu449Asp) | not provided [RCV002904485]|not specified [RCV004066283] | uncertain significance | 4 | 1025179 | 1025179 | Human | | name |
| 156223621 | CV2121696 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1511G>T (p.Cys504Phe) | not provided [RCV002958241] | uncertain significance | 4 | 1025343 | 1025343 | Human | | name |
| 156126290 | CV2144892 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1503C>G (p.His501Gln) | not provided [RCV003003183] | uncertain significance | 4 | 1025335 | 1025335 | Human | | name |
| 156244004 | CV2243020 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1030A>G (p.Met344Val) | not specified [RCV004109940] | uncertain significance | 4 | 1024622 | 1024622 | Human | | name |
| 156204455 | CV2252482 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1168A>T (p.Ile390Phe) | not specified [RCV004116599] | uncertain significance | 4 | 1025000 | 1025000 | Human | | name |
| 156229292 | CV2267619 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1400G>A (p.Gly467Asp) | not specified [RCV004134175] | uncertain significance | 4 | 1025232 | 1025232 | Human | | name |
| 156086368 | CV2366280 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1282G>A (p.Gly428Arg) | not specified [RCV004210295] | uncertain significance | 4 | 1025114 | 1025114 | Human | | name |
| 329360660 | CV2452374 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1220C>A (p.Thr407Asn) | not specified [RCV004272695] | uncertain significance | 4 | 1025052 | 1025052 | Human | | name |
| 329396161 | CV2459365 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1420C>G (p.Leu474Val) | not specified [RCV004275065] | likely benign | 4 | 1025252 | 1025252 | Human | | name |
| 329387819 | CV2471015 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1381G>T (p.Gly461Cys) | not specified [RCV004277981] | uncertain significance | 4 | 1025213 | 1025213 | Human | | name |
| 401758666 | CV2694216 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1301C>T (p.Ser434Leu) | not specified [RCV004302633] | uncertain significance | 4 | 1025133 | 1025133 | Human | | name |
| 401743694 | CV2696847 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1411T>C (p.Tyr471His) | not specified [RCV004290813] | uncertain significance | 4 | 1025243 | 1025243 | Human | | name |
| 401776166 | CV2724602 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1114G>A (p.Ala372Thr) | not specified [RCV004331402] | likely benign | 4 | 1024946 | 1024946 | Human | | name |
| 401771142 | CV2726378 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1439C>T (p.Thr480Ile) | not specified [RCV004326810] | uncertain significance | 4 | 1025271 | 1025271 | Human | | name |
| 401888439 | CV2761303 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1106C>T (p.Ser369Leu) | not specified [RCV004341172] | uncertain significance | 4 | 1024938 | 1024938 | Human | | name |
| 402496746 | CV3005929 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1407G>C (p.Lys469Asn) | not provided [RCV003688086] | uncertain significance | 4 | 1025239 | 1025239 | Human | | name |
| 405219174 | CV3035011 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1459C>T (p.His487Tyr) | not provided [RCV003709715]|not specified [RCV004917865] | uncertain significance | 4 | 1025291 | 1025291 | Human | | name |
| 405086093 | CV3047764 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1358C>T (p.Pro453Leu) | not provided [RCV003717481] | uncertain significance | 4 | 1025190 | 1025190 | Human | | name |
| 405209505 | CV3062065 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1259C>T (p.Pro420Leu) | not provided [RCV003731791] | uncertain significance | 4 | 1025091 | 1025091 | Human | | name |
| 405245871 | CV3075604 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1277G>A (p.Arg426His) | not provided [RCV003738582] | uncertain significance | 4 | 1025109 | 1025109 | Human | | name |
| 405213516 | CV3078225 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1418A>C (p.Lys473Thr) | not provided [RCV003732334] | uncertain significance | 4 | 1025250 | 1025250 | Human | | name |
| 405049343 | CV3080112 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1051G>A (p.Ala351Thr) | not provided [RCV003740480] | uncertain significance | 4 | 1024643 | 1024643 | Human | | name |
| 405018756 | CV3135369 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1159G>A (p.Ala387Thr) | not provided [RCV003829640]|not specified [RCV004917883] | uncertain significance | 4 | 1024991 | 1024991 | Human | | name |
| 405219231 | CV3161403 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1225G>A (p.Ala409Thr) | not provided [RCV003863272] | uncertain significance | 4 | 1025057 | 1025057 | Human | | name |
| 405760391 | CV3250261 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1160C>T (p.Ala387Val) | not specified [RCV004394153] | uncertain significance | 4 | 1024992 | 1024992 | Human | | name |
| 405760404 | CV3250263 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1300T>C (p.Ser434Pro) | not specified [RCV004394155] | uncertain significance | 4 | 1025132 | 1025132 | Human | | name |
| 405760409 | CV3250264 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1394T>C (p.Val465Ala) | not specified [RCV004394156] | likely benign | 4 | 1025226 | 1025226 | Human | | name |
| 407501709 | CV3439175 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1418A>G (p.Lys473Arg) | not specified [RCV004623317] | uncertain significance | 4 | 1025250 | 1025250 | Human | | name |
| 597752088 | CV3672762 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1309G>A (p.Ala437Thr) | not specified [RCV004923850] | uncertain significance | 4 | 1025141 | 1025141 | Human | | name |
| 597752115 | CV3672767 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1129T>C (p.Trp377Arg) | not specified [RCV004923855] | uncertain significance | 4 | 1024961 | 1024961 | Human | | name |
| 597752125 | CV3672769 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1056C>A (p.Phe352Leu) | not specified [RCV004923857] | uncertain significance | 4 | 1024648 | 1024648 | Human | | name |
| 597939918 | CV3785232 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1156G>A (p.Gly386Ser) | not provided [RCV005133337] | uncertain significance | 4 | 1024988 | 1024988 | Human | | name |
| 597905386 | CV3846525 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1506T>G (p.Tyr502Ter) | not provided [RCV005181952] | uncertain significance | 4 | 1025338 | 1025338 | Human | | name |
| 598241946 | CV3955592 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1276C>T (p.Arg426Cys) | not specified [RCV005344436] | uncertain significance | 4 | 1025108 | 1025108 | Human | | name |
| 598241952 | CV3955593 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1361C>G (p.Ala454Gly) | not specified [RCV005344437] | uncertain significance | 4 | 1025193 | 1025193 | Human | | name |
| 598241959 | CV3955595 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1307C>G (p.Ala436Gly) | not specified [RCV005344438] | uncertain significance | 4 | 1025139 | 1025139 | Human | | name |
| 15175783 | CV734359 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1349A>G (p.His450Arg) | not provided [RCV000906292] | likely benign | 4 | 1025181 | 1025181 | Human | | name |
| 15151440 | CV734363 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1481G>A (p.Gly494Asp) | not provided [RCV000901365] | likely benign | 4 | 1025313 | 1025313 | Human | | name |
| 41406593 | CV980499 | single nucleotide variant | NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) | Congenital diaphragmatic hernia [RCV001281071]|not provided [RCV001871629] | pathogenic|uncertain significance | 4 | 1025160 | 1025160 | Human | 2 | name |
| 156152599 | CV1875211 | microsatellite | NM_001004356.3(FGFRL1):c.601AAG[2] (p.Lys203del) | not provided [RCV003056589] | uncertain significance | 4 | 1023983 | 1023985 | Human | | name |
| 597939509 | CV3788555 | deletion | NM_001004356.3(FGFRL1):c.617_618del (p.Leu206fs) | not provided [RCV005133230] | uncertain significance | 4 | 1024000 | 1024001 | Human | | name |
| 156084795 | CV1993065 | deletion | NM_001004356.3(FGFRL1):c.1468_1469del (p.Ser490fs) | not provided [RCV002639018] | uncertain significance | 4 | 1025299 | 1025300 | Human | | name |
| 156362079 | CV2016746 | deletion | NM_001004356.3(FGFRL1):c.1468_1471del (p.Ser490fs) | not provided [RCV002720933] | uncertain significance | 4 | 1025297 | 1025300 | Human | | name |
| 405065943 | CV3144771 | microsatellite | NM_001004356.3(FGFRL1):c.1464_1467del (p.Ser490fs) | not provided [RCV003850548] | uncertain significance | 4 | 1025291 | 1025294 | Human | | name |
| 405283065 | CV3216977 | microsatellite | NM_001004356.3(FGFRL1):c.1454_1455dup (p.Ser486fs) | FGFRL1-related disorder [RCV003979125] | likely benign | 4 | 1025266 | 1025267 | Human | | name , trait , alternate_id |
| 15118512 | CV734361 | microsatellite | NM_001004356.3(FGFRL1):c.1452_1455del (p.His485fs) | not provided [RCV000895560] | likely benign | 4 | 1025267 | 1025270 | Human | | name |
| 15144926 | CV734362 | microsatellite | NM_001004356.3(FGFRL1):c.1452_1455dup (p.Ser486fs) | FGFRL1-related disorder [RCV003912851]|not provided [RCV000900079] | likely benign | 4 | 1025266 | 1025267 | Human | | name , trait , alternate_id |
| 156008697 | CV2011317 | inversion | NM_001004356.3(FGFRL1):c.1129_1130inv (p.Trp377Gln) | not provided [RCV002690396] | uncertain significance | 4 | 1024961 | 1024962 | Human | | name |