TUBB2B[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 246

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 1261368	NM_178012.5(TUBB2B):c.*160del	TUBB2B	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3046539	NM_178012.5(TUBB2B):c.*8C>T	TUBB2B	Single nucleotide variant (3 prime UTR variant)	TUBB2B-related disorder	GLikely benign
Select item 1631458	NM_178012.5(TUBB2B):c.1332G>A (p.Glu444=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256782	NM_178012.5(TUBB2B):c.1330G>A (p.Glu444Lys)	TUBB2B (E444K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 2991070	NM_178012.5(TUBB2B):c.1329C>G (p.Asp443Glu)	TUBB2B (D443E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810451	NM_178012.5(TUBB2B):c.1309G>C (p.Glu437Gln)	TUBB2B (E437Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072810	NM_178012.5(TUBB2B):c.1308C>T (p.Phe436=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 76304	NM_178012.5(TUBB2B):c.1302G>A (p.Gly434=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2170481	NM_178012.5(TUBB2B):c.1287G>A (p.Thr429=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 88897	NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)	TUBB2B (E421K)	Single nucleotide variant (missense variant)	Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 3239435	NM_178012.5(TUBB2B):c.1251C>A (p.Asp417Glu)	TUBB2B (D417E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39720	NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn)	TUBB2B (D417N)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GPathogenic
Select item 160178	NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=)	TUBB2B	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 3364599	NM_178012.5(TUBB2B):c.1241A>C (p.Asn414Thr)	TUBB2B (N414T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195195	NM_178012.5(TUBB2B):c.1228G>A (p.Glu410Lys)	TUBB2B (E410K)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 1342599	NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser)	TUBB2B (F408S)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 2234353	NM_178012.5(TUBB2B):c.1196C>T (p.Thr399Met)	TUBB2B (T399M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823653	NM_178012.5(TUBB2B):c.1194C>T (p.Tyr398=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379922	NM_178012.5(TUBB2B):c.1189T>C (p.Trp397Arg)	TUBB2B (W397R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 431871	NM_178012.5(TUBB2B):c.1188C>G (p.His396Gln)	TUBB2B (H396Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809861	NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His)	TUBB2B (R391H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GPathogenic/Likely pathogenic
Select item 2578313	NM_178012.5(TUBB2B):c.1171C>T (p.Arg391Cys)	TUBB2B (R391C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1048606	NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu)	TUBB2B (M388L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 1909009	NM_178012.5(TUBB2B):c.1158G>C (p.Thr386=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364049	NM_178012.5(TUBB2B):c.1149G>A (p.Glu383=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3348296	NM_178012.5(TUBB2B):c.1139G>C (p.Arg380Pro)	TUBB2B (R380P)	Single nucleotide variant (missense variant)	TUBB2B-related disorder	GLikely pathogenic
Select item 2498169	NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)	TUBB2B (R380H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GConflicting classifications of pathogenicity
Select item 160177	NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)	TUBB2B (R380L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 1214258	NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)	TUBB2B (R380C)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GPathogenic
Select item 2700451	NM_178012.5(TUBB2B):c.1120A>T (p.Ile374Phe)	TUBB2B (I374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638432	NM_178012.5(TUBB2B):c.1105G>T (p.Gly369Cys)	TUBB2B (G369C)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GUncertain significance
Select item 1709542	NM_178012.5(TUBB2B):c.1091C>T (p.Ser364Leu)	TUBB2B (S364L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 1722865	NM_178012.5(TUBB2B):c.1066_1070del (p.Ile356fs)	TUBB2B (I356fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 692087	NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)	TUBB2B (P357L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 2505103	NM_178012.5(TUBB2B):c.1057G>A (p.Val353Met)	TUBB2B (V353M)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	Gnot provided
Select item 1311989	NM_178012.5(TUBB2B):c.1037C>T (p.Pro346Leu)	TUBB2B (P346L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061369	NM_178012.5(TUBB2B):c.990G>A (p.Met330Ile)	TUBB2B (M330I)	Single nucleotide variant (missense variant)	TUBB2B-related disorder	GUncertain significance
Select item 425365	NM_178012.5(TUBB2B):c.977T>C (p.Val326Ala)	TUBB2B (V326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190491	NM_178012.5(TUBB2B):c.972G>C (p.Lys324Asn)	TUBB2B (K324N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 681384	NM_178012.5(TUBB2B):c.966C>T (p.Ser322=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160187	NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)	TUBB2B (S322F)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 2875782	NM_178012.5(TUBB2B):c.957C>A (p.Gly319=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193251	NM_178012.5(TUBB2B):c.953G>A (p.Arg318Gln)	TUBB2B (R318Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1314982	NM_178012.5(TUBB2B):c.952C>G (p.Arg318Gly)	TUBB2B (R318G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873322	NM_178012.5(TUBB2B):c.951C>T (p.Phe317=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632067	NM_178012.5(TUBB2B):c.946A>G (p.Ile316Val)	TUBB2B (I316V)	Single nucleotide variant (missense variant)	TUBB2B-related disorder	GUncertain significance
Select item 2136360	NM_178012.5(TUBB2B):c.935C>T (p.Thr312Met)	TUBB2B (T312M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 513551	NM_178012.5(TUBB2B):c.912C>T (p.Asp304=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1679255	NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr)	TUBB2B (C303Y)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 1519873	NM_178012.5(TUBB2B):c.904G>A (p.Ala302Thr)	TUBB2B (A302T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1911261	NM_178012.5(TUBB2B):c.903C>T (p.Ala301=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236668	NM_178012.5(TUBB2B):c.895A>G (p.Met299Val)	TUBB2B (M299V)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 1686714	NM_178012.5(TUBB2B):c.893A>T (p.Asn298Ile)	TUBB2B (N298I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2809159	NM_178012.5(TUBB2B):c.887C>A (p.Ser296Tyr)	TUBB2B (S296Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371508	NM_178012.5(TUBB2B):c.872A>C (p.Gln291Pro)	TUBB2B (Q291P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 437125	NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)	TUBB2B (Q291K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 2176502	NM_178012.5(TUBB2B):c.864G>A (p.Glu288=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160186	NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser)	TUBB2B (P287S)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 2168006	NM_178012.5(TUBB2B):c.855G>A (p.Thr285=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235893	NM_178012.5(TUBB2B):c.845G>C (p.Arg282Pro)	TUBB2B (R282P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 3343143	NM_178012.5(TUBB2B):c.830G>A (p.Gly277Asp)	TUBB2B (G277D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373667	NM_178012.5(TUBB2B):c.797T>C (p.Phe266Ser)	TUBB2B (F266S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 428	NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)	TUBB2B (F265L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GPathogenic
Select item 3002395	NM_178012.5(TUBB2B):c.780C>T (p.Phe260=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013275	NM_178012.5(TUBB2B):c.778T>G (p.Phe260Val)	TUBB2B (F260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708143	NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)	TUBB2B (P259L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GPathogenic
Select item 39721	NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)	TUBB2B (N256S)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GConflicting classifications of pathogenicity
Select item 3371907	NM_178012.5(TUBB2B):c.763G>A (p.Val255Met)	TUBB2B (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343739	NM_178012.5(TUBB2B):c.761C>T (p.Ala254Val)	TUBB2B (A254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030360	NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu)	TUBB2B (A254E)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 1389476	NM_178012.5(TUBB2B):c.752G>T (p.Arg251Leu)	TUBB2B (R251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3