ClinVar Miner

List of variants in gene TCTN2 reported as uncertain significance for Joubert syndrome 24

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_024809.5(TCTN2):c.*146C>T
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*290C>G
NM_024809.5(TCTN2):c.*477G>A
NM_024809.5(TCTN2):c.*493T>A
NM_024809.5(TCTN2):c.*559C>T
NM_024809.5(TCTN2):c.*562G>C
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.*608T>C
NM_024809.5(TCTN2):c.*71T>G
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
NM_024809.5(TCTN2):c.1393+15T>C
NM_024809.5(TCTN2):c.1394-6T>C
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)
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.1872A>G (p.Ala624=)
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.267+3A>G
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)
NM_024809.5(TCTN2):c.464-7T>A
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)
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.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.615C>A (p.Gly205=) rs147485641
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.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)

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