ClinVar for MedGen (Select 481661) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061949	NM_001082538.3(TCTN1):c.1635+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome 13	GLikely pathogenic
Select item 2437027	NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)	TCTN1 (P407L +6 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1805072	NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)	TCTN1 (S128fs +2 more)	Duplication (frameshift variant +2 more)	Joubert syndrome 13	GPathogenic
Select item 1706556	NM_001082538.3(TCTN1):c.224C>T (p.Ala75Val)	TCTN1 (A15V +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 1679957	NM_001082538.3(TCTN1):c.580del (p.Ser194fs)	TCTN1 (S134fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 13	GLikely pathogenic
Select item 1410963	NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter)	TCTN1 (K186* +3 more)	Single nucleotide variant (nonsense +2 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 1386191	NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp)	TCTN1 (R414W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1339906	NM_001082538.3(TCTN1):c.1494+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 1252090	NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)	TCTN1 (W285fs +5 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 13	GPathogenic
Select item 1252089	NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)	TCTN1	Deletion (inframe_deletion +2 more)	not specified +1 more	GUncertain significance
Select item 1186116	NM_001082538.3(TCTN1):c.341+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GLikely pathogenic
Select item 1033279	NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs)	TCTN1 (V11fs)	Duplication (frameshift variant +2 more)	Joubert syndrome 13	GPathogenic
Select item 1033278	NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile)	TCTN1 (V371I +3 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 883983	NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp)	TCTN1 (G59D +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 883982	NM_001082538.3(TCTN1):c.343G>A (p.Gly115Ser)	TCTN1 (G59S +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 883243	NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser)	TCTN1 (F379S +6 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +2 more	GUncertain significance
Select item 883242	NM_001082538.3(TCTN1):c.1301G>A (p.Gly434Asp)	TCTN1 (G378D +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13	GUncertain significance
Select item 883241	NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro)	TCTN1 (L246P +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +2 more	GUncertain significance
Select item 882103	NM_001082538.3(TCTN1):c.1170T>A (p.Ala390=)	TCTN1	Single nucleotide variant (synonymous variant)	Joubert syndrome 13	GUncertain significance
Select item 882102	NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg)	TCTN1 (L259R +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +2 more	GUncertain significance
Select item 880699	NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly)	TCTN1 (S212G +3 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 880698	NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly)	TCTN1 (A87G +3 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 880697	NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn)	TCTN1 (T159N +3 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 880696	NM_001082538.3(TCTN1):c.543A>T (p.Thr181=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13	GUncertain significance
Select item 829835	NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter)	TCTN1 (W429* +5 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 13	GPathogenic
Select item 697612	NM_001082538.3(TCTN1):c.864C>T (p.Ser288=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +2 more	GLikely benign
Select item 695277	NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 681543	NM_001082538.3(TCTN1):c.-14G>A	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635024	NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg)	TCTN1 (G377R +4 more)	Single nucleotide variant (missense variant)	Joubert syndrome 13	GUncertain significance
Select item 635023	NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro)	TCTN1 (L230P +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13	GUncertain significance
Select item 631669	NM_001082538.3(TCTN1):c.1418del (p.Pro473fs)	TCTN1 (P295fs +5 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 461755	NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)	TCTN1 (V417L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 373177	NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)	TCTN1 (W449R +5 more)	Single nucleotide variant (missense variant +1 more)	TCTN1-related condition +4 more	GBenign/Likely benign
Select item 307210	NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val)	TCTN1 (A559V +6 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +3 more	GUncertain significance
Select item 307209	NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 307208	NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 307207	NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn)	TCTN1 (Y192N +3 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 307206	NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys)	TCTN1 (Q122K +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 307205	NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 13 +3 more	GBenign/Likely benign
Select item 307204	NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile)	TCTN1 (V71I)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 307203	NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp)	TCTN1 (G5D)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13 +2 more	GUncertain significance
Select item 307202	NM_001082538.3(TCTN1):c.-46G>C	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 13 +1 more	GLikely benign
Select item 307201	NM_001082538.2(TCTN1):c.-84T>C	TCTN1	Single nucleotide variant	Joubert syndrome 13	GUncertain significance
Select item 307200	NM_001082538.2(TCTN1):c.-140A>G	TCTN1	Single nucleotide variant	Joubert syndrome 13	GUncertain significance
Select item 265265	NM_001082538.3(TCTN1):c.978+1G>T	TCTN1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 257400	NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)	TCTN1 (V100M +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 221983	NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter)	TCTN1 (R300* +4 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 212386	NM_001082538.3(TCTN1):c.843+1del	TCTN1	Deletion (splice donor variant)	Joubert syndrome 13	GPathogenic
Select item 198764	NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)	TCTN1 (V298I +4 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 197179	NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)	TCTN1 (S163Y +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 194019	NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	TCTN1 (I477F +5 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 183312	NM_001082538.3(TCTN1):c.342-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 13	GPathogenic
Select item 160100	NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)	TCTN1 (A300T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 160099	NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +3 more	GBenign
Select item 160098	NM_001082538.3(TCTN1):c.473-10T>A	TCTN1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +3 more	GBenign
Select item 160096	NM_001082538.3(TCTN1):c.220+12G>C	LOC130008755, TCTN1 (M1I)	Single nucleotide variant (missense variant +3 more)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 160095	NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)	TCTN1 (G452C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 93533	NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)	TCTN1 (I398V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 30803	NM_001082538.3(TCTN1):c.221-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 13	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 59