TUB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 3349228	NM_003320.5(TUB):c.-4C>T	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 3061653	NM_003320.5(TUB):c.-1G>A	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 2421413	NC_000011.10:g.8038874A>T	TUB (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387700	NC_000011.10:g.8038876G>T	TUB (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474929	NC_000011.10:g.8038877G>A	TUB (G2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386936	NM_003320.5(TUB):c.5_8dup (p.Arg4fs)	TUB (R4fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3031363	NM_003320.5(TUB):c.7G>A (p.Ala3Thr)	TUB (A3T)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3349318	NM_003320.5(TUB):c.8C>G (p.Ala3Gly)	TUB (A3G)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3354201	NM_003320.5(TUB):c.33G>T (p.Trp11Cys)	TUB (W11C)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 717299	NM_003320.5(TUB):c.42_45del (p.Phe14fs)	TUB (F14fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 1358306	NC_000011.10:g.8038911C>T	TUB (S13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629695	NC_000011.10:g.8038921C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180220	NC_000011.10:g.8038922G>T	TUB (E17*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1069023	NM_003320.5(TUB):c.51_58del (p.Glu17fs)	TUB (E17fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 956554	NM_003320.5(TUB):c.49G>A (p.Glu17Lys)	TUB (E17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933290	NC_000011.10:g.8038925A>G	TUB (T18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945600	NM_003320.5(TUB):c.63G>A (p.Leu21=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 934129	NM_003320.5(TUB):c.68C>T (p.Pro23Leu)	TUB (P23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406724	NM_003320.5(TUB):c.73G>C (p.Gly25Arg)	TUB (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003385	NC_000011.10:g.8038954C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420977	NM_003320.5(TUB):c.83G>C (p.Trp28Ser)	TUB (W28S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355394	NC_000011.10:g.8038958C>T	TUB (P29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034922	NM_003320.5(TUB):c.87C>T (p.Pro29=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 1961789	NC_000011.10:g.8038960C>A	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061454	NC_000011.10:g.8038961A>G	TUB (M30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947893	NC_000011.10:g.8038962T>C	TUB (M30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974253	NC_000011.10:g.8038963G>T	TUB (M30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088516	NC_000011.10:g.8038970C>T	TUB (Q33*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2868073	NC_000011.10:g.8038978A>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860170	NM_003320.5(TUB):c.110A>G (p.Gln37Arg)	TUB (Q37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357892	NM_003320.5(TUB):c.120A>G (p.Lys40=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 1486167	NC_000011.10:g.8038995C>T	TUB (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463186	NC_000011.10:g.8039000C>A	TUB (P43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346166	NM_003320.5(TUB):c.127C>T (p.Pro43Ser)	TUB (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842556	NC_000011.10:g.8039002C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037914	NC_000011.10:g.8039009C>T	TUB (R46W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716540	NC_000011.10:g.8039010G>T	TUB (R46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507195	NC_000011.10:g.8039010G>A	TUB (R46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996727	NM_003320.5(TUB):c.139G>A (p.Gly47Ser)	TUB (G47S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 954915	NM_003320.5(TUB):c.145C>T (p.Arg49Ter)	TUB (R49*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 790407	NC_000011.10:g.8039019G>A	TUB (R49Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 78730	NC_000011.10:g.8039027C>T	TUB (R52W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1509755	NC_000011.10:g.8039028G>A	TUB (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999292	NC_000011.10:g.8039031A>G	TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1119626	NC_000011.10:g.8039039A>C	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976448	NC_000011.10:g.8039634T>C	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3029458	NM_003320.5(TUB):c.156-9C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 1916449	NC_000011.10:g.8039646A>G	TUB (R53G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006177	NM_003320.5(TUB):c.161C>A (p.Thr54Lys)	TUB (T54K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728117	NC_000011.10:g.8039651A>G	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102805	NC_000011.10:g.8039654C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1433691	NC_000011.10:g.8039655A>G	TUB (R56G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741372	NC_000011.10:g.8039660G>A	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1016113	NM_003320.5(TUB):c.175T>C (p.Tyr59His)	TUB (Y59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560840	NC_000011.10:g.8039666C>T	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381623	NM_003320.5(TUB):c.180G>A (p.Trp60Ter)	TUB (W60*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1169549	NC_000011.10:g.8039672G>A	TUB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1964874	NM_003320.5(TUB):c.186A>T (p.Glu62Asp)	TUB (E62D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166400	NC_000011.10:g.8039684G>A	TUB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2097596	NM_003320.5(TUB):c.196A>G (p.Ile66Val)	TUB (I66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901707	NM_003320.5(TUB):c.198C>T (p.Ile66=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 845514	NM_003320.5(TUB):c.199G>A (p.Ala67Thr)	TUB (A67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960683	NM_003320.5(TUB):c.202C>T (p.Arg68Cys)	TUB (R68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854041	NM_003320.5(TUB):c.203G>A (p.Arg68His)	TUB (R68H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502448	NC_000011.10:g.8039694T>C	TUB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1547553	NC_000011.10:g.8039700G>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974332	NM_003320.5(TUB):c.203+14del	TUB	Deletion (intron variant)	not provided	GBenign
Select item 1654390	NC_000011.10:g.8039712G>A	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3040862	NM_177972.3(TUB):c.-5G>A	TUB	Single nucleotide variant (5 prime UTR variant +1 more)	TUB-related disorder	GLikely benign
Select item 3352837	NM_177972.3(TUB):c.2T>G (p.Met1Arg)	TUB (M1R)	Single nucleotide variant (missense variant +2 more)	TUB-related disorder	GUncertain significance
Select item 2629307	NM_177972.3(TUB):c.19T>G (p.Ser7Ala)	TUB (S7A)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 3353294	NM_177972.3(TUB):c.22G>T (p.Asp8Tyr)	TUB (D8Y)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 3357061	NM_177972.3(TUB):c.23A>C (p.Asp8Ala)	TUB (D8A)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 3351737	NM_177972.3(TUB):c.38+4C>A	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3060522	NM_177972.3(TUB):c.38+6C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 3355167	NM_177972.3(TUB):c.38+10C>T	TUB	Single nucleotide variant (intron variant)	TUB-related disorder	GLikely benign
Select item 2771832	NM_177972.3(TUB):c.39-20A>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109714	NM_177972.3(TUB):c.39-18_39-16del	TUB	Deletion (intron variant)	not provided	GLikely benign
Select item 2998825	NM_177972.3(TUB):c.39-17C>G	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948392	NM_177972.3(TUB):c.39-14_39-13del	TUB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1114277	NM_177972.3(TUB):c.39-10C>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727129	NM_177972.3(TUB):c.39-9G>A	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1097536	NM_177972.3(TUB):c.39-8C>A	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1121582	NM_177972.3(TUB):c.39-4G>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1394076	NM_177972.3(TUB):c.44T>C (p.Leu15Ser)	TUB (L15S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463343	NM_177972.3(TUB):c.49G>C (p.Asp17His)	TUB (D72H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012011	NM_177972.3(TUB):c.51T>C (p.Asp17=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936541	NM_177972.3(TUB):c.52G>A (p.Glu18Lys)	TUB (E18K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044354	NM_177972.3(TUB):c.57C>T (p.Gly19=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633493	NM_177972.3(TUB):c.71A>G (p.Gln24Arg)	TUB (Q24R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 3352501	NM_177972.3(TUB):c.72G>A (p.Gln24=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 2109369	NM_177972.3(TUB):c.78G>C (p.Lys26Asn)	TUB (K81N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 776582	NM_177972.3(TUB):c.78G>A (p.Lys26=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1716402	NM_177972.3(TUB):c.79C>T (p.Leu27Phe)	TUB (L27F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511966	NM_177972.3(TUB):c.83A>G (p.Asp28Gly)	TUB (D83G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905078	NM_177972.3(TUB):c.85C>T (p.Arg29Trp)	TUB (R84W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411963	NM_177972.3(TUB):c.90+3G>A	TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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