"GeneDx"[submitter] AND "TCTN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 1251593	NC_000012.12:g.123670796_123670820dup	TCTN2	Duplication	not provided	GBenign
Select item 1223577	NC_000012.12:g.123670821T>A	TCTN2	Single nucleotide variant	not provided	GLikely benign
Select item 1271763	NC_000012.12:g.123670979A>G	TCTN2	Single nucleotide variant	not provided	GBenign
Select item 307541	NM_024809.5(TCTN2):c.-95G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1188149	NM_024809.5(TCTN2):c.-80G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 307542	NM_024809.5(TCTN2):c.-55C>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 24 +2 more	GBenign/Likely benign
Select item 193458	NM_024809.5(TCTN2):c.-2G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 126291	NM_024809.5(TCTN2):c.83-4C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +5 more	GBenign
Select item 675007	NM_024809.5(TCTN2):c.191-116C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126287	NM_024809.5(TCTN2):c.225C>T (p.Asn75=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GBenign
Select item 1314299	NM_024809.5(TCTN2):c.267+4A>C	TCTN2	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 675174	NM_024809.5(TCTN2):c.267+83G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293149	NM_024809.5(TCTN2):c.267+159G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670707	NM_024809.5(TCTN2):c.267+218A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252363	NM_024809.5(TCTN2):c.267+235G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182893	NM_024809.5(TCTN2):c.268-86G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675008	NM_024809.5(TCTN2):c.268-82A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199799	NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)	TCTN2 (V90L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 261789	NM_024809.5(TCTN2):c.360C>G (p.Leu120=)	TCTN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 675009	NM_024809.5(TCTN2):c.463+93T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675010	NM_024809.5(TCTN2):c.463+98T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672228	NM_024809.5(TCTN2):c.463+145G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206670	NM_024809.5(TCTN2):c.464-317A>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672250	NM_024809.5(TCTN2):c.464-224C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216286	NM_024809.5(TCTN2):c.464-112G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 461766	NM_024809.5(TCTN2):c.524dup (p.Leu175fs)	TCTN2 (L174fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
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 1217805	NM_024809.5(TCTN2):c.564+261G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670708	NM_024809.5(TCTN2):c.565-232C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670709	NM_024809.5(TCTN2):c.565-207A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188132	NM_024809.5(TCTN2):c.565-123A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675011	NM_024809.5(TCTN2):c.565-60T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429609	NM_024809.5(TCTN2):c.565-2A>T	TCTN2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 307548	NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)	TCTN2 (S191A +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
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 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 1313059	NM_024809.5(TCTN2):c.631G>A (p.Val211Ile)	TCTN2 (V210I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 307550	NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)	TCTN2 (N212S +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 126289	NM_024809.5(TCTN2):c.654C>T (p.Leu218=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 212388	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	TCTN2 (T223M +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 307551	NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)	TCTN2 (T224M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212389	NM_024809.5(TCTN2):c.703del (p.Leu235fs)	TCTN2 (L234fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 198261	NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	TCTN2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1396324	NM_024809.5(TCTN2):c.758G>T (p.Gly253Val)	TCTN2 (G252V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1271600	NM_024809.5(TCTN2):c.764+28G>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261791	NM_024809.5(TCTN2):c.764+28G>C	TCTN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1232731	NM_024809.5(TCTN2):c.764+58A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675012	NM_024809.5(TCTN2):c.764+76C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197172	NM_024809.5(TCTN2):c.764+226G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672251	NM_024809.5(TCTN2):c.764+244T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671911	NM_024809.5(TCTN2):c.765-291C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671912	NM_024809.5(TCTN2):c.765-256T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195345	NM_024809.5(TCTN2):c.765-99A>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126290	NM_024809.5(TCTN2):c.765-43A>T	TCTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2037718	NM_024809.5(TCTN2):c.800_801del (p.Val267fs)	TCTN2 (V266fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198593	NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GConflicting classifications of pathogenicity
Select item 126292	NM_024809.5(TCTN2):c.873A>G (p.Ala291=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 307556	NM_024809.5(TCTN2):c.888G>A (p.Pro296=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +4 more	GConflicting classifications of pathogenicity
Select item 126294	NM_024809.5(TCTN2):c.891+7G>A	TCTN2	Single nucleotide variant (intron variant)	not provided +5 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 1265524	NM_024809.5(TCTN2):c.891+54dup	TCTN2	Duplication (intron variant)	not provided	GBenign
Select item 1263093	NM_024809.5(TCTN2):c.891+54del	TCTN2	Deletion (intron variant)	not provided	GBenign
Select item 1257366	NM_024809.5(TCTN2):c.891+53_891+54del	TCTN2	Deletion (intron variant)	not provided	GBenign
Select item 675015	NM_024809.5(TCTN2):c.891+54T>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671913	NM_024809.5(TCTN2):c.891+281T>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672971	NM_024809.5(TCTN2):c.892-143A>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260144	NM_024809.5(TCTN2):c.892-123G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126295	NM_024809.5(TCTN2):c.898C>T (p.Leu300=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 1216885	NM_024809.5(TCTN2):c.1034-302A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672252	NM_024809.5(TCTN2):c.1034-189C>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126282	NM_024809.5(TCTN2):c.1099+19T>C	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +5 more	GBenign
Select item 1209568	NM_024809.5(TCTN2):c.1099+236G>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671926	NM_024809.5(TCTN2):c.1099+268C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188533	NM_024809.5(TCTN2):c.1100-305C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194274	NM_024809.5(TCTN2):c.1100-27T>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126283	NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 1207822	NM_024809.5(TCTN2):c.1234+41G>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675016	NM_024809.5(TCTN2):c.1234+97G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675127	NM_024809.5(TCTN2):c.1234+116A>G	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183356	NM_024809.5(TCTN2):c.1235-111C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126284	NM_024809.5(TCTN2):c.1235-28A>G	TCTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1216779	NM_024809.5(TCTN2):c.1312+37C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266783	NM_024809.5(TCTN2):c.1312+84T>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672253	NM_024809.5(TCTN2):c.1312+167T>C	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250940	NM_024809.5(TCTN2):c.1312+305del	TCTN2	Deletion (intron variant)	not provided	GBenign
Select item 1215856	NM_024809.5(TCTN2):c.1313-296C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223667	NM_024809.5(TCTN2):c.1313-229dup	TCTN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1208988	NM_024809.5(TCTN2):c.1313-230_1313-229dup	TCTN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1241542	NM_024809.5(TCTN2):c.1313-229del	TCTN2	Deletion (intron variant)	not provided	GBenign
Select item 1230828	NM_024809.5(TCTN2):c.1313-155del	TCTN2	Deletion (intron variant)	not provided	GBenign
Select item 1313476	NM_024809.5(TCTN2):c.1319A>C (p.Gln440Pro)	TCTN2 (Q439P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207911	NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter)	TCTN2 (R445* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 126285	NM_024809.5(TCTN2):c.1393+7C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +5 more	GBenign
Select item 1213397	NM_024809.5(TCTN2):c.1394-234G>A	TCTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312750	NM_024809.5(TCTN2):c.1394-10_1394-5del	TCTN2	Microsatellite (intron variant)	not provided +2 more	GUncertain significance
Select item 387285	NM_024809.5(TCTN2):c.1394-12T>C	TCTN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1462923	NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe)	TCTN2 (V492F +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 215939	NM_024809.5(TCTN2):c.1505+3G>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GBenign/Likely benign

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