ClinVar Miner

List of variants in gene POMGNT2 reported as uncertain significance for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn)
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His)
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp)
NM_032806.6(POMGNT2):c.283_285TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu)
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu)
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu)
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu)
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly) rs1559414712
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile)
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe)
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His)
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn) rs115870061
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg)
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg) rs375879947
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro)
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)

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