ClinVar Miner

List of variants in gene MEGF8 reported as uncertain significance for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477
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.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)
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.3260C>T (p.Pro1087Leu) rs781096678
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+4A>G
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.4492C>T (p.Arg1498Cys) rs747096596
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His)
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
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.5858G>A (p.Arg1953His)
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His)
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.6500C>T (p.Pro2167Leu) rs372350131
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.7048G>A (p.Val2350Met) rs73033442
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.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.7694G>A (p.Arg2565Gln) rs764185083
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.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr)
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser)
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly)
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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