ClinVar for MedGen (Select 854220) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1486473	NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)	TCTN2 (P87S)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +4 more	GUncertain significance
Select item 1374875	NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)	TCTN2 (A526T +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 1030877	NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser)	TCTN2 (P116S +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +2 more	GUncertain significance
Select item 1030875	NM_024809.5(TCTN2):c.1167G>T (p.Trp389Cys)	TCTN2 (W389C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8	GUncertain significance
Select item 931914	NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)	TCTN2 (R330* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 917958	NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)	TCTN2 (Q617* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 24	GPathogenic
Select item 883783	NM_024809.5(TCTN2):c.*562G>C	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 883782	NM_024809.5(TCTN2):c.*559C>T	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 883728	NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)	TCTN2 (P649L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 883681	NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)	TCTN2 (L423V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +2 more	GUncertain significance
Select item 883631	NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)	TCTN2 (T223K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 883591	NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)	TCTN2 (R96G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +2 more	GUncertain significance
Select item 883590	NM_024809.5(TCTN2):c.267+3A>G	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 882985	NM_024809.5(TCTN2):c.*493T>A	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 882984	NM_024809.5(TCTN2):c.*477G>A	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 882933	NM_024809.5(TCTN2):c.1872A>G (p.Ala624=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 8 +1 more	GUncertain significance
Select item 882885	NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)	TCTN2 (Q303L +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 882803	NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)	TCTN2 (D26Y)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 881834	NM_024809.5(TCTN2):c.*290C>G	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881785	NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)	TCTN2 (R566C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 881784	NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +3 more	GConflicting classifications of pathogenicity
Select item 881783	NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)	TCTN2 (D524H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881451	NM_024809.5(TCTN2):c.*608T>C	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881391	NM_024809.5(TCTN2):c.*146C>T	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881390	NM_024809.5(TCTN2):c.*71T>G	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881342	NM_024809.5(TCTN2):c.1394-6T>C	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881341	NM_024809.5(TCTN2):c.1393+15T>C	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881340	NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +3 more	GConflicting classifications of pathogenicity
Select item 881279	NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)	TCTN2 (Y265H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 881278	NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)	TCTN2 (Y250C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881228	NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)	TCTN2 (V164L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881227	NM_024809.5(TCTN2):c.464-7T>A	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 881226	NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)	TCTN2 (G100C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +3 more	GUncertain significance
Select item 697155	NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)	TCTN2 (H383Y +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +3 more	GConflicting classifications of pathogenicity
Select item 368984	NM_024809.5(TCTN2):c.*67C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign/Likely benign
Select item 307570	NM_024809.5(TCTN2):c.*587C>T	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307569	NM_024809.5(TCTN2):c.*468C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +2 more	GBenign
Select item 307568	NM_024809.5(TCTN2):c.*412T>C	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +2 more	GBenign/Likely benign
Select item 307566	NM_024809.5(TCTN2):c.*258G>C	TCTN2	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 8 +1 more	GUncertain significance
Select item 307565	NM_024809.5(TCTN2):c.*166T>G	TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307564	NM_024809.5(TCTN2):c.*155G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 8 +3 more	GBenign
Select item 307563	NM_024809.5(TCTN2):c.*87C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 307562	NM_024809.5(TCTN2):c.*45G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +5 more	GConflicting classifications of pathogenicity
Select item 307561	NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg)	TCTN2 (P629R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307560	NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 307559	NM_024809.5(TCTN2):c.1818C>G (p.His606Gln)	TCTN2 (H606Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 307558	NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu)	TCTN2 (S571L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 307557	NM_024809.5(TCTN2):c.892G>C (p.Val298Leu)	TCTN2 (V298L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307556	NM_024809.5(TCTN2):c.888G>A (p.Pro296=)	TCTN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 307555	NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu)	TCTN2 (P296L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 307554	NM_024809.5(TCTN2):c.813A>C (p.Ala271=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307553	NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)	TCTN2 (Q259R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 307552	NM_024809.5(TCTN2):c.677G>A (p.Arg226His)	TCTN2 (R226H +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +3 more	GUncertain significance
Select item 307550	NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)	TCTN2 (N212S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +4 more	GConflicting classifications of pathogenicity
Select item 307549	NM_024809.5(TCTN2):c.588G>A (p.Thr196=)	TCTN2	Single nucleotide variant (synonymous variant)	TCTN2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 307548	NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)	TCTN2 (S191A +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 307547	NM_024809.5(TCTN2):c.564+3A>C	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 307546	NM_024809.5(TCTN2):c.523T>G (p.Leu175Val)	TCTN2 (L175V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 307545	NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu)	TCTN2 (P167L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +3 more	GUncertain significance
Select item 307544	NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)	TCTN2 (I68V)	Single nucleotide variant (missense variant)	TCTN2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 307543	NM_024809.5(TCTN2):c.-15C>T	TCTN2	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 307542	NM_024809.5(TCTN2):c.-55C>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 8 +2 more	GBenign/Likely benign
Select item 307541	NM_024809.5(TCTN2):c.-95G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 24 +2 more	GBenign
Select item 261790	NM_024809.5(TCTN2):c.615C>A (p.Gly205=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 8 +4 more	GConflicting classifications of pathogenicity
Select item 261787	NM_024809.5(TCTN2):c.1612+12C>T	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 217696	NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	TCTN2 (G373R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +2 more	GConflicting classifications of pathogenicity
Select item 212389	NM_024809.5(TCTN2):c.703del (p.Leu235fs)	TCTN2 (L234fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 24 +5 more	GPathogenic/Likely pathogenic
Select item 212388	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	TCTN2 (T223M +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +6 more	GUncertain significance
Select item 212387	NM_024809.5(TCTN2):c.134dup (p.Val46fs)	TCTN2 (V46fs)	Duplication (frameshift variant)	Meckel syndrome, type 8	GPathogenic
Select item 198593	NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 198262	NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 198261	NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 126295	NM_024809.5(TCTN2):c.898C>T (p.Leu300=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 126294	NM_024809.5(TCTN2):c.891+7G>A	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126293	NM_024809.5(TCTN2):c.891+22T>C	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +3 more	GBenign
Select item 126292	NM_024809.5(TCTN2):c.873A>G (p.Ala291=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126291	NM_024809.5(TCTN2):c.83-4C>T	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126289	NM_024809.5(TCTN2):c.654C>T (p.Leu218=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 126288	NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	TCTN2 (R200Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 126287	NM_024809.5(TCTN2):c.225C>T (p.Asn75=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126286	NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)	ATP6V0A2, TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +5 more	GBenign/Likely benign
Select item 126285	NM_024809.5(TCTN2):c.1393+7C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126283	NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126282	NM_024809.5(TCTN2):c.1099+19T>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 31076	NM_024809.5(TCTN2):c.1506-2A>G	TCTN2	Single nucleotide variant (splice acceptor variant)	TCTN2-Related Disorders +6 more	GPathogenic/Likely pathogenic

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Items: 85