ClinVar Miner

List of variants in gene MEGF8 studied for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP
MEGF8, GLY199ARG
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val)
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu)
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606
NM_001271938.2(MEGF8):c.1789-5C>T rs752609842
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1933+10C>T rs763206386
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) rs148207079
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu)
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) rs777017134
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp)
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp) rs370522595
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=) rs780556649
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr)
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val)
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594
NM_001271938.2(MEGF8):c.351+10G>A rs374212597
NM_001271938.2(MEGF8):c.351+4A>G
NM_001271938.2(MEGF8):c.352-4G>A rs143955737
NM_001271938.2(MEGF8):c.352-5C>T rs180788941
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp) rs372257661
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=) rs148792547
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His)
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile)
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His)
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His)
NM_001271938.2(MEGF8):c.6274-9C>G rs373417416
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln)
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=)
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser)
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys)
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe) rs773064133
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val)
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu)
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln) rs764185083
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met)
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp) rs768902189
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr)
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser)
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly)
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met) rs376248434
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser) rs753588973
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083

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