ClinVar Miner

List of variants reported as uncertain significance for acrocephalosyndactyly by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) rs1585617188
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr) rs1585616989
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) rs1585616825
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440
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.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615
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.3010C>T (p.Arg1004Trp) rs141383715
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594
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.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.527C>G (p.Ala176Gly)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780
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.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.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.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.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
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_023110.2(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.2(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser) rs780765366
NM_023110.2(FGFR1):c.91+6G>T rs886062921
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
NM_023110.3(FGFR1):c.2292+6G>T

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