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	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +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 3061653	NM_003320.5(TUB):c.-1G>A	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related disorder	GLikely benign
Select item 2421413	NM_003320.5(TUB):c.1A>T (p.Met1Leu)	TUB (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387700	NM_003320.5(TUB):c.3G>T (p.Met1Ile)	TUB (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474929	NM_003320.5(TUB):c.4G>A (p.Gly2Arg)	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 717299	NM_003320.5(TUB):c.42_45del (p.Phe14fs)	TUB (F14fs)	Microsatellite (frameshift variant)	TUB-related disorder +1 more	GLikely benign
Select item 1358306	NM_003320.5(TUB):c.38C>T (p.Ser13Phe)	TUB (S13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629695	NM_003320.5(TUB):c.48C>T (p.Ala16=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180220	NM_003320.5(TUB):c.49G>T (p.Glu17Ter)	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	NM_003320.5(TUB):c.52A>G (p.Thr18Ala)	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	NM_003320.5(TUB):c.81C>T (p.Pro27=)	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)	TUB-related disorder +1 more	GUncertain significance
Select item 1355394	NM_003320.5(TUB):c.85C>T (p.Pro29Ser)	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	NM_003320.5(TUB):c.87C>A (p.Pro29=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061454	NM_003320.5(TUB):c.88A>G (p.Met30Val)	TUB (M30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947893	NM_003320.5(TUB):c.89T>C (p.Met30Thr)	TUB (M30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974253	NM_003320.5(TUB):c.90G>T (p.Met30Ile)	TUB (M30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088516	NM_003320.5(TUB):c.97C>T (p.Gln33Ter)	TUB (Q33*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2868073	NM_003320.5(TUB):c.105A>T (p.Ser35=)	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 +1 more	GUncertain significance
Select item 1486167	NM_003320.5(TUB):c.122C>T (p.Pro41Leu)	TUB (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463186	NM_003320.5(TUB):c.127C>A (p.Pro43Thr)	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)	TUB-related disorder +1 more	GUncertain significance
Select item 2842556	NM_003320.5(TUB):c.129C>T (p.Pro43=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037914	NM_003320.5(TUB):c.136C>T (p.Arg46Trp)	TUB (R46W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716540	NM_003320.5(TUB):c.137G>T (p.Arg46Leu)	TUB (R46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507195	NM_003320.5(TUB):c.137G>A (p.Arg46Gln)	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 +1 more	GUncertain significance
Select item 790407	NM_003320.5(TUB):c.146G>A (p.Arg49Gln)	TUB (R49Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 78730	NM_003320.5(TUB):c.154C>T (p.Arg52Trp)	TUB (R52W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1509755	NM_003320.5(TUB):c.155G>A (p.Arg52Gln)	TUB (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999292	NM_003320.5(TUB):c.155+3A>G	TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1119626	NM_003320.5(TUB):c.155+11A>C	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976448	NM_003320.5(TUB):c.156-11T>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	NM_003320.5(TUB):c.157A>G (p.Arg53Gly)	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 +1 more	GUncertain significance
Select item 728117	NM_003320.5(TUB):c.162A>G (p.Thr54=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102805	NM_003320.5(TUB):c.165C>T (p.Thr55=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1433691	NM_003320.5(TUB):c.166A>G (p.Arg56Gly)	TUB (R56G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741372	NM_003320.5(TUB):c.171G>A (p.Arg57=)	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	NM_003320.5(TUB):c.177C>T (p.Tyr59=)	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	NM_003320.5(TUB):c.183G>A (p.Lys61=)	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	NM_003320.5(TUB):c.195G>A (p.Glu65=)	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 +1 more	GLikely benign
Select item 845514	NM_003320.5(TUB):c.199G>A (p.Ala67Thr)	TUB (A67T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1960683	NM_003320.5(TUB):c.202C>T (p.Arg68Cys)	TUB (R68C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 854041	NM_003320.5(TUB):c.203G>A (p.Arg68His)	TUB (R68H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1502448	NM_003320.5(TUB):c.203+2T>C	TUB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1547553	NM_003320.5(TUB):c.203+8G>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	NM_003320.5(TUB):c.203+20G>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 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 3060522	NM_177972.3(TUB):c.38+6C>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)	TUB-related disorder +1 more	GLikely benign
Select item 727129	NM_177972.3(TUB):c.39-9G>A	TUB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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)	TUB-related disorder +1 more	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 2109369	NM_177972.3(TUB):c.78G>C (p.Lys26Asn)	TUB (K81N +1 more)	Single nucleotide variant (missense variant)	not provided +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 +1 more	GUncertain significance
Select item 1411963	NM_177972.3(TUB):c.90+3G>A	TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1912294	NM_177972.3(TUB):c.90+14G>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631848	NM_177972.3(TUB):c.90+19G>A	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649837	NM_177972.3(TUB):c.91-14C>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111908	NM_177972.3(TUB):c.91-11_91-10del	TUB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1121837	NM_177972.3(TUB):c.91-7T>C	TUB	Single nucleotide variant (intron variant)	TUB-related disorder +1 more	GLikely benign
Select item 1913661	NM_177972.3(TUB):c.91-4A>G	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634561	NM_177972.3(TUB):c.92G>A (p.Arg31Gln)	TUB (R31Q +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 1647031	NM_177972.3(TUB):c.105G>A (p.Glu35=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025769	NM_177972.3(TUB):c.110A>T (p.Lys37Met)	TUB (K37M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553124	NM_177972.3(TUB):c.111G>A (p.Lys37=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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