ClinVar Miner

List of variants in gene TCTN2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.-2G>A rs141768405
NM_024809.5(TCTN2):c.-55C>A rs78846567
NM_024809.5(TCTN2):c.-95G>A rs7980060
NM_024809.5(TCTN2):c.1099+19T>C rs7137946
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1234+5C>G rs201382614
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1505+3G>C rs111574617
NM_024809.5(TCTN2):c.1506-2A>G rs374349989
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131

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