"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TUBB2B" - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1631458	NM_178012.5(TUBB2B):c.1332G>A (p.Glu444=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2823653	NM_178012.5(TUBB2B):c.1194C>T (p.Tyr398=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909009	NM_178012.5(TUBB2B):c.1158G>C (p.Thr386=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2700451	NM_178012.5(TUBB2B):c.1120A>T (p.Ile374Phe)	TUBB2B (I374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875782	NM_178012.5(TUBB2B):c.957C>A (p.Gly319=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873322	NM_178012.5(TUBB2B):c.951C>T (p.Phe317=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2809159	NM_178012.5(TUBB2B):c.887C>A (p.Ser296Tyr)	TUBB2B (S296Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176502	NM_178012.5(TUBB2B):c.864G>A (p.Glu288=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168006	NM_178012.5(TUBB2B):c.855G>A (p.Thr285=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002395	NM_178012.5(TUBB2B):c.780C>T (p.Phe260=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389476	NM_178012.5(TUBB2B):c.752G>T (p.Arg251Leu)	TUBB2B (R251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381699	NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val)	TUBB2B (A248V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1397648	NM_178012.5(TUBB2B):c.741C>G (p.Asn247Lys)	TUBB2B (N247K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GUncertain significance
Select item 1715347	NM_178012.5(TUBB2B):c.721C>T (p.Arg241Cys)	TUBB2B (R241C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160185	NM_178012.5(TUBB2B):c.718C>T (p.Leu240=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 160184	NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)	TUBB2B (G235R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2019678	NM_178012.5(TUBB2B):c.642C>A (p.Thr214=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132246	NM_178012.5(TUBB2B):c.612C>G (p.Asn204Lys)	TUBB2B (N204K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 137855	NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)	TUBB2B	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 7 +2 more	GBenign/Likely benign
Select item 160183	NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)	TUBB2B (C201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1408957	NM_178012.5(TUBB2B):c.564G>A (p.Ser188=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137854	NM_178012.5(TUBB2B):c.564G>T (p.Ser188=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1715349	NM_178012.5(TUBB2B):c.510G>A (p.Met170Ile)	TUBB2B (M170I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1715042	NM_178012.5(TUBB2B):c.508A>T (p.Met170Leu)	TUBB2B (M170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973229	NM_178012.5(TUBB2B):c.505G>A (p.Val169Ile)	TUBB2B (V169I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988999	NM_178012.5(TUBB2B):c.504C>T (p.Ser168=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160181	NM_178012.5(TUBB2B):c.498C>T (p.Thr166=)	TUBB2B	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GConflicting classifications of pathogenicity
Select item 388120	NM_178012.5(TUBB2B):c.447C>A (p.Thr149=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1676004	NM_178012.5(TUBB2B):c.435C>T (p.Ser145=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189088	NM_178012.5(TUBB2B):c.429G>A (p.Thr143=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371303	NM_178012.5(TUBB2B):c.357G>A (p.Val119=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 383792	NM_178012.5(TUBB2B):c.354T>C (p.Asp118=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1951139	NM_178012.5(TUBB2B):c.349del (p.Leu117fs)	TUBB2B (L117fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2893015	NM_178012.5(TUBB2B):c.339C>T (p.Val113=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160180	NM_178012.5(TUBB2B):c.330C>T (p.Ala110=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 212497	NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)	TUBB2B (G98R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1720661	NM_178012.5(TUBB2B):c.287G>A (p.Gly96Glu)	TUBB2B (G96E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2889602	NM_178012.5(TUBB2B):c.278-6T>C	TUBB2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976052	NM_178012.5(TUBB2B):c.278-12del	TUBB2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2967308	NM_178012.5(TUBB2B):c.225G>C (p.Ser75=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053272	NM_178012.5(TUBB2B):c.223T>A (p.Ser75Thr)	TUBB2B (S75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740588	NM_178012.5(TUBB2B):c.216G>A (p.Thr72=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933811	NM_178012.5(TUBB2B):c.187G>T (p.Ala63Ser)	TUBB2B (A63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526179	NM_178012.5(TUBB2B):c.178G>A (p.Val60Ile)	TUBB2B (V60I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924937	NM_178012.5(TUBB2B):c.167-14_167-13del	TUBB2B	Deletion (intron variant)	not provided	GLikely benign
Select item 1924512	NM_178012.5(TUBB2B):c.57+16C>T	TUBB2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736674	NM_178012.5(TUBB2B):c.57+9G>A	TUBB2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 448845	NM_178012.5(TUBB2B):c.57+4G>A	TUBB2B	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2763694	NM_178012.5(TUBB2B):c.26C>A (p.Ala9Glu)	TUBB2B (A9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815701	NM_178012.5(TUBB2B):c.24G>A (p.Gln8=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114267	NM_178012.5(TUBB2B):c.3G>A (p.Met1Ile)	TUBB2B (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance
Select item 2423595	NC_000006.11:g.(?_3155839)_(3226065_?)dup	TUBB2A, TUBB2B	Duplication	not provided	GUncertain significance
Select item 1410071	NC_000006.11:g.(?_3154097)_(3226065_?)dup	TUBB2A, TUBB2B	Duplication	not provided	GUncertain significance
Select item 1023045	NC_000006.11:g.(?_2833842)_(3227777_?)dup	BPHL, NQO2 +6 more	Duplication	not provided	GUncertain significance

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Items: 64