203068[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1289698	NC_000006.12:g.30719937T>A	TUBB	Single nucleotide variant	not provided	GBenign
Select item 1233701	NC_000006.12:g.30720290C>G	TUBB	Single nucleotide variant	not provided	GBenign
Select item 218925	NM_178014.4(TUBB):c.43C>A (p.Gln15Lys)	TUBB (Q15K)	Single nucleotide variant (missense variant +2 more)	Multiple benign circumferential skin creases on limbs 1	GPathogenic
Select item 1685467	NM_178014.4(TUBB):c.45G>C (p.Gln15His)	TUBB (Q15H)	Single nucleotide variant (missense variant +2 more)	Multiple benign circumferential skin creases on limbs 1	GLikely pathogenic
Select item 3365780	NM_178014.4(TUBB):c.50G>T (p.Gly17Val)	TUBB (G17V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 672680	NM_178014.4(TUBB):c.57+21_57+22del	TUBB	Deletion (intron variant)	not provided	GLikely benign
Select item 1240826	NM_178014.4(TUBB):c.57+87G>T	TUBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246819	NM_178014.4(TUBB):c.57+235G>C	TUBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1076996	NM_178014.4(TUBB):c.58-593_58-575del	TUBB (G23fs)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1065830	NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]	TUBB (G23fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia	GAffects
Select item 1076997	NM_178014.4(TUBB):c.58-574C>A	TUBB (L29I)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3052561	NM_178014.4(TUBB):c.58-567A>G	TUBB (H31R)	Single nucleotide variant (missense variant +1 more)	TUBB-related disorder	GLikely benign
Select item 1195609	NM_178014.4(TUBB):c.58-301G>A	TUBB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181982	NM_178014.4(TUBB):c.58-213T>A	TUBB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200977	NM_178014.4(TUBB):c.58-145G>A	TUBB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295941	NM_178014.4(TUBB):c.58-49A>T	TUBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681519	NM_178014.4(TUBB):c.58-9C>T	TUBB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3256784	NM_178014.4(TUBB):c.91G>A (p.Asp31Asn)	TUBB (D31N +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 976678	NM_178014.4(TUBB):c.139A>G (p.Ile47Val)	TUBB (I47V +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1697063	NM_178014.4(TUBB):c.152A>G (p.Tyr51Cys)	TUBB (Y51C +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2136013	NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)	TUBB (N72S +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6 +1 more	GLikely pathogenic
Select item 1031753	NM_178014.4(TUBB):c.161C>T (p.Ala54Val)	TUBB (A54V +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6 +1 more	GUncertain significance
Select item 1226284	NM_178014.4(TUBB):c.167-60G>A	TUBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710907	NM_178014.4(TUBB):c.173A>G (p.Lys58Arg)	TUBB (K14R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801150	NM_178014.4(TUBB):c.176A>G (p.Tyr59Cys)	TUBB (Y15C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343375	NM_178014.4(TUBB):c.202C>A (p.Leu68Ile)	TUBB (L24I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 809889	NM_178014.4(TUBB):c.224_225del (p.Ser75fs)	TUBB (S75fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 985795	NM_178014.4(TUBB):c.229C>T (p.Arg77Cys)	TUBB (R33C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985193	NM_178014.4(TUBB):c.244G>C (p.Gly82Arg)	TUBB (G102R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2443069	NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)	TUBB (P107L +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 802193	NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)	TUBB (N89T +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 380935	NM_178014.4(TUBB):c.277+11C>T	TUBB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1236100	NM_178014.4(TUBB):c.277+133C>T	TUBB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3345941	NM_178014.4(TUBB):c.289G>A (p.Ala97Thr)	TUBB (A117T +3 more)	Single nucleotide variant (missense variant)	TUBB-related disorder	GUncertain significance
Select item 1251922	NM_178014.4(TUBB):c.299A>G (p.Asn100Ser)	TUBB (N100S +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6 +1 more	GUncertain significance
Select item 1172521	NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp)	TUBB (Y106D +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6 +1 more	GLikely pathogenic
Select item 373428	NM_178014.4(TUBB):c.322G>A (p.Glu108Lys)	TUBB (E108K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1806220	NM_178014.4(TUBB):c.331G>A (p.Glu111Lys)	TUBB (E111K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1308242	NM_178014.4(TUBB):c.352G>T (p.Asp118Tyr)	TUBB (D118Y +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6 +1 more	GConflicting classifications of pathogenicity
Select item 1207471	NM_178014.4(TUBB):c.361C>T (p.Arg121Trp)	TUBB (R121W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 916073	NM_178014.4(TUBB):c.424G>T (p.Gly142Cys)	TUBB (G142C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2572464	NM_178014.4(TUBB):c.443G>C (p.Gly148Ala)	TUBB (G104A +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 807517	NM_178014.4(TUBB):c.448C>T (p.Leu150Phe)	TUBB (L150F +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1704937	NM_178014.4(TUBB):c.466C>T (p.Arg156Ter)	TUBB (R112* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2412910	NM_178014.4(TUBB):c.484C>T (p.Arg162Cys)	TUBB (R118C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1705480	NM_178014.4(TUBB):c.506T>C (p.Val169Ala)	TUBB (V125A +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 376764	NM_178014.4(TUBB):c.533C>G (p.Thr178Ser)	TUBB (T178S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 989242	NM_178014.4(TUBB):c.560T>A (p.Leu187His)	TUBB (L115H +3 more)	Single nucleotide variant (missense variant +1 more)	TUBB-related tubulinopathy	GUncertain significance
Select item 1030361	NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys)	TUBB (Y220C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 545082	NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)	TUBB (K216R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 380920	NM_178014.4(TUBB):c.651G>A (p.Leu217=)	TUBB	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 235892	NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)	TUBB (T221I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218926	NM_178014.4(TUBB):c.665A>T (p.Tyr222Phe)	TUBB (Y222F +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple benign circumferential skin creases on limbs 1	GPathogenic
Select item 1262602	NM_178014.4(TUBB):c.666C>T (p.Tyr222=)	TUBB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3256579	NM_178014.4(TUBB):c.670G>C (p.Asp224His)	TUBB (D152H +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1709915	NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)	TUBB (D152Y +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1337305	NM_178014.4(TUBB):c.682C>A (p.Leu228Ile)	TUBB (L156I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 392956	NM_178014.4(TUBB):c.682C>G (p.Leu228Val)	TUBB (L228V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1333849	NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)	TUBB (T165S +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 3343929	NM_178014.4(TUBB):c.716G>C (p.Cys239Ser)	TUBB (C167S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1303639	NM_178014.4(TUBB):c.718C>T (p.Leu240Phe)	TUBB (L168F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985739	NM_178014.4(TUBB):c.718C>A (p.Leu240Ile)	TUBB (L168I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184754	NM_178014.4(TUBB):c.746_747delinsTA (p.Asp249Val)	TUBB (D177V +3 more)	Indel (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3237496	NM_178014.4(TUBB):c.801G>T (p.Met267Ile)	TUBB (M195I +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple benign circumferential skin creases on limbs 1 +1 more	GUncertain significance
Select item 1309522	NM_178014.4(TUBB):c.830G>A (p.Gly277Glu)	TUBB (G205E +3 more)	Single nucleotide variant (missense variant +1 more)	TUBB-related disorder +1 more	GUncertain significance
Select item 498257	NM_178014.4(TUBB):c.845G>A (p.Arg282Gln)	TUBB (R282Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500912	NM_178014.4(TUBB):c.852del (p.Thr285fs)	TUBB (T213fs +3 more)	Deletion (frameshift variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 2662647	NM_178014.4(TUBB):c.859C>T (p.Pro287Ser)	TUBB (P215S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 438586	NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	TUBB (P287L +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6 +3 more	GConflicting classifications of pathogenicity
Select item 3256783	NM_178014.4(TUBB):c.869C>T (p.Thr290Ile)	TUBB (T218I +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1299020	NM_178014.4(TUBB):c.873G>T (p.Gln291His)	TUBB (Q219H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 127189	NM_178014.4(TUBB):c.895A>G (p.Met299Val)	TUBB (M299V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 1338518	NM_178014.4(TUBB):c.897G>A (p.Met299Ile)	TUBB (M227I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1339905	NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)	TUBB (R234P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3373503	NM_178014.4(TUBB):c.920A>T (p.His307Leu)	TUBB (H235L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2662352	NM_178014.4(TUBB):c.937_943dup (p.Ala315fs)	TUBB (A243fs +3 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3343587	NM_178014.4(TUBB):c.944_945delinsTC (p.Ala315Val)	TUBB (A243V +3 more)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 3370535	NM_178014.4(TUBB):c.961A>T (p.Met321Leu)	TUBB (M249L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1172672	NM_178014.4(TUBB):c.961A>G (p.Met321Val)	TUBB (M249V +3 more)	Single nucleotide variant (missense variant +2 more)	Abnormal brain morphology +1 more	GPathogenic
Select item 2442458	NM_178014.4(TUBB):c.968T>C (p.Met323Thr)	TUBB (M251T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 985928	NM_178014.4(TUBB):c.979G>A (p.Asp327Asn)	TUBB (D125N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3027372	NM_178014.4(TUBB):c.988A>G (p.Met330Val)	TUBB (M128V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2228702	NM_178014.4(TUBB):c.1045G>A (p.Val349Ile)	TUBB (V305I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 127190	NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)	TUBB (V353I +4 more)	Single nucleotide variant (missense variant +1 more)	TUBB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1077126	NM_178014.4(TUBB):c.1081C>T (p.Leu361Phe)	TUBB (L159F +4 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly +1 more	GLikely pathogenic
Select item 1711884	NM_178014.4(TUBB):c.1156A>G (p.Thr386Ala)	TUBB (T184A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310397	NM_178014.4(TUBB):c.1157C>T (p.Thr386Ile)	TUBB (T184I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704757	NM_178014.4(TUBB):c.1168C>T (p.Arg390Cys)	TUBB (R188C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3061829	NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)	TUBB (G198R +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 386448	NM_178014.4(TUBB):c.1200C>T (p.Gly400=)	TUBB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 127191	NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)	TUBB (E401K +4 more)	Single nucleotide variant (missense variant +1 more)	Multiple benign circumferential skin creases on limbs 1 +3 more	GPathogenic
Select item 426178	NM_178014.4(TUBB):c.1230G>T (p.Glu410Asp)	TUBB (E410D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1219627	NM_178014.4(TUBB):c.1257C>G (p.Val419=)	TUBB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 977846	NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)	TUBB (E219K +4 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GPathogenic
Select item 3372117	NM_178014.4(TUBB):c.1275C>A (p.Tyr425Ter)	TUBB (Y223* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1312948	NM_178014.4(TUBB):c.1302G>T (p.Glu434Asp)	TUBB (E232D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382889	NM_178014.4(TUBB):c.1309G>A (p.Gly437Ser)	TUBB (G437S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1295942	NM_178014.4(TUBB):c.*56G>T	TUBB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1295945	NM_178014.4(TUBB):c.*57C>T	TUBB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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