ClinVar Miner

List of variants in gene MEGF8 studied for Carpenter syndrome

Included ClinVar conditions (3):
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Total variants: 68
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HGVS dbSNP
MEGF8, GLY199ARG
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_001410.2(MEGF8):c.1024G>A (p.Val342Met)
NM_001410.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001410.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_001410.2(MEGF8):c.1391-3C>T
NM_001410.2(MEGF8):c.1788+1G>C
NM_001410.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498
NM_001410.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001410.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001410.2(MEGF8):c.2249A>G (p.His750Arg)
NM_001410.2(MEGF8):c.2448T>C (p.Asp816=) rs757551016
NM_001410.2(MEGF8):c.2452G>A (p.Gly818Arg)
NM_001410.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001410.2(MEGF8):c.2488C>T (p.Leu830Phe)
NM_001410.2(MEGF8):c.2809C>T (p.Arg937Trp) rs141383715
NM_001410.2(MEGF8):c.2832C>T (p.Thr944=) rs145216125
NM_001410.2(MEGF8):c.3059C>T (p.Pro1020Leu)
NM_001410.2(MEGF8):c.3150-3C>T rs10411498
NM_001410.2(MEGF8):c.3232C>T (p.Leu1078=) rs115335139
NM_001410.2(MEGF8):c.352-4G>A rs143955737
NM_001410.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001410.2(MEGF8):c.3597C>T (p.Arg1199=) rs750232469
NM_001410.2(MEGF8):c.3672G>A (p.Gly1224=) rs373710119
NM_001410.2(MEGF8):c.3819C>T (p.Tyr1273=) rs35473255
NM_001410.2(MEGF8):c.3983C>T (p.Ser1328Phe)
NM_001410.2(MEGF8):c.402C>T (p.Asn134=) rs117439608
NM_001410.2(MEGF8):c.4121G>A (p.Gly1374Asp) rs1229026252
NM_001410.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001410.2(MEGF8):c.4496G>A (p.Arg1499His) rs397515427
NM_001410.2(MEGF8):c.4512C>T (p.Ala1504=) rs149279834
NM_001410.2(MEGF8):c.4641C>T (p.Thr1547=) rs35468447
NM_001410.2(MEGF8):c.4655C>T (p.Ala1552Val)
NM_001410.2(MEGF8):c.4806C>A (p.Pro1602=) rs755932452
NM_001410.2(MEGF8):c.5080C>G (p.Leu1694Val) rs150607375
NM_001410.2(MEGF8):c.5274G>A (p.Leu1758=) rs116630802
NM_001410.2(MEGF8):c.5323G>C (p.Val1775Leu)
NM_001410.2(MEGF8):c.5433C>T (p.Arg1811=) rs62648096
NM_001410.2(MEGF8):c.5863A>G (p.Thr1955Ala) rs779853780
NM_001410.2(MEGF8):c.5883G>A (p.Val1961=) rs547635717
NM_001410.2(MEGF8):c.6094C>T (p.Pro2032Ser)
NM_001410.2(MEGF8):c.6109G>T (p.Ala2037Ser)
NM_001410.2(MEGF8):c.6299C>T (p.Pro2100Leu)
NM_001410.2(MEGF8):c.6375G>A (p.Thr2125=) rs10425783
NM_001410.2(MEGF8):c.6440+9G>A rs112519292
NM_001410.2(MEGF8):c.6514C>T (p.Arg2172Cys)
NM_001410.2(MEGF8):c.6765C>T (p.Ser2255=) rs754666704
NM_001410.2(MEGF8):c.6840C>T (p.Asp2280=) rs145886667
NM_001410.2(MEGF8):c.6847G>A (p.Val2283Met)
NM_001410.2(MEGF8):c.6852C>T (p.Cys2284=) rs28483598
NM_001410.2(MEGF8):c.6853G>A (p.Val2285Met) rs112167630
NM_001410.2(MEGF8):c.6888C>T (p.Cys2296=) rs138235390
NM_001410.2(MEGF8):c.6954C>T (p.His2318=) rs775919574
NM_001410.2(MEGF8):c.7099A>G (p.Ser2367Gly) rs397515428
NM_001410.2(MEGF8):c.7199G>A (p.Arg2400His) rs757739507
NM_001410.2(MEGF8):c.7220G>A (p.Arg2407His) rs45623135
NM_001410.2(MEGF8):c.7366A>G (p.Thr2456Ala)
NM_001410.2(MEGF8):c.7430G>A (p.Arg2477Gln) rs754329335
NM_001410.2(MEGF8):c.7472C>T (p.Pro2491Leu) rs147216997
NM_001410.2(MEGF8):c.7504G>A (p.Val2502Ile) rs147133204
NM_001410.2(MEGF8):c.7530C>T (p.Tyr2510=) rs3745237
NM_001410.2(MEGF8):c.7692C>G (p.Ala2564=) rs150486662
NM_001410.2(MEGF8):c.7856T>G (p.Leu2619Trp) rs1555785144
NM_001410.2(MEGF8):c.8070C>T (p.Pro2690=) rs755400663
NM_001410.2(MEGF8):c.8136C>T (p.Gly2712=) rs115428796
NM_001410.2(MEGF8):c.8225G>A (p.Arg2742Lys) rs11881304
NM_001410.2(MEGF8):c.8321C>G (p.Thr2774Ser) rs914088074
NM_001410.2(MEGF8):c.919G>A (p.Val307Met)

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