TUBB3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 354

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 58272	GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	CENPBD1, DEF8 +30 more	Copy number loss	See cases	GUncertain significance
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 1264181	NM_001197181.2(TUBB3):c.-160+799G>A	LOC121848001, TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216183	NM_001197181.2(TUBB3):c.-160+868T>A	LOC121848001, TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188692	NM_001197181.2(TUBB3):c.-160+1028C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668581	NM_006086.4(TUBB3):c.-30G>T	LOC130059847, TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2769602	NM_006086.4(TUBB3):c.5G>T (p.Arg2Met)	LOC130059847, TUBB3 (R2M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108986	NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)	LOC130059847, TUBB3 (R2K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311668	NM_006086.4(TUBB3):c.9G>C (p.Glu3Asp)	LOC130059847, TUBB3 (E3D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2844154	NM_006086.4(TUBB3):c.31C>A (p.Gln11Lys)	LOC130059847, TUBB3 (Q11K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1297465	NM_006086.4(TUBB3):c.33G>C (p.Gln11His)	LOC130059847, TUBB3 (Q11H)	Single nucleotide variant (missense variant +1 more)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 1207536	NM_006086.4(TUBB3):c.46A>T (p.Ile16Phe)	LOC130059847, TUBB3 (I16F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832940	NM_006086.4(TUBB3):c.49G>C (p.Gly17Arg)	LOC130059847, TUBB3 (G17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446615	NM_006086.4(TUBB3):c.50G>T (p.Gly17Val)	LOC130059847, TUBB3 (G17V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897779	NM_006086.4(TUBB3):c.57+17C>T	LOC130059847, TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277879	NM_006086.4(TUBB3):c.58-331T>G	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249821	NM_006086.4(TUBB3):c.58-235C>G	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670258	NM_006086.4(TUBB3):c.58-185G>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 160193	NM_006086.4(TUBB3):c.58-49C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175481	NM_006086.4(TUBB3):c.58-20dup	TUBB3	Duplication (intron variant)	not provided	GBenign
Select item 160192	NM_006086.4(TUBB3):c.58-22C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227568	NM_006086.4(TUBB3):c.58-21C>G	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2972038	NM_006086.4(TUBB3):c.58-20C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922366	NM_006086.4(TUBB3):c.58-19T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510637	NM_006086.4(TUBB3):c.58-19del	TUBB3	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 2007235	NM_006086.4(TUBB3):c.58-17T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964660	NM_006086.4(TUBB3):c.58-3C>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 593935	NM_006086.4(TUBB3):c.71T>C (p.Ile24Thr)	TUBB3 (I24T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2963658	NM_006086.4(TUBB3):c.72C>T (p.Ile24=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 510810	NM_006086.4(TUBB3):c.90C>T (p.Ile30=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3063974	NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg)	TUBB3 (P32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734134	NM_006086.4(TUBB3):c.99C>T (p.Ser33=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097361	NM_006086.4(TUBB3):c.107A>G (p.Tyr36Cys)	TUBB3 (Y36C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 378837	NM_006086.4(TUBB3):c.109G>A (p.Val37Met)	TUBB3 (V37M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1928576	NM_006086.4(TUBB3):c.114C>T (p.Gly38=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2647144	NM_006086.4(TUBB3):c.115G>A (p.Asp39Asn)	TUBB3 (D39N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2303306	NM_006086.4(TUBB3):c.119C>T (p.Ser40Leu)	TUBB3 (S40L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1960746	NM_006086.4(TUBB3):c.120G>T (p.Ser40=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 438582	NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	TUBB3 (R46W)	Single nucleotide variant (5 prime UTR variant +1 more)	Complex cortical dysplasia with other brain malformations 1 +3 more	GConflicting classifications of pathogenicity
Select item 1343012	NM_006086.4(TUBB3):c.137G>A (p.Arg46Gln)	TUBB3 (R46Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2954962	NM_006086.4(TUBB3):c.138G>A (p.Arg46=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2974805	NM_006086.4(TUBB3):c.156C>G (p.Asn52Lys)	TUBB3 (N52K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2505069	NM_006086.4(TUBB3):c.166+4A>C	TUBB3	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 1 +1 more	Gnot provided
Select item 1708905	NM_006086.4(TUBB3):c.166+6T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2796841	NM_006086.4(TUBB3):c.166+8C>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508422	NM_006086.4(TUBB3):c.166+12C>T	TUBB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1201721	NM_006086.4(TUBB3):c.167-21C>G	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915037	NM_006086.4(TUBB3):c.167-20G>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880765	NM_006086.4(TUBB3):c.167-19A>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160190	NM_006086.4(TUBB3):c.167-6C>T	TUBB3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 391738	NM_006086.4(TUBB3):c.167-5C>G	TUBB3	Single nucleotide variant (intron variant)	TUBB3-related condition +2 more	GBenign/Likely benign
Select item 1320071	NM_006086.4(TUBB3):c.178G>T (p.Val60Leu)	TUBB3 (V60L)	Single nucleotide variant (5 prime UTR variant +1 more)	Complex cortical dysplasia with other brain malformations 1	GLikely pathogenic
Select item 219254	NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)	TUBB3 (R62Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Gnot provided
Select item 1924398	NM_006086.4(TUBB3):c.189C>G (p.Ala63=)	TUBB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1238183	NM_006086.4(TUBB3):c.189C>T (p.Ala63=)	TUBB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 212499	NM_006086.4(TUBB3):c.190A>G (p.Ile64Val)	TUBB3 (I64V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1394198	NM_006086.4(TUBB3):c.198G>A (p.Val66=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2572667	NM_006086.4(TUBB3):c.200A>T (p.Asp67Val)	TUBB3 (D67V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1706150	NM_006086.4(TUBB3):c.205G>A (p.Glu69Lys)	TUBB3 (E69K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 508986	NM_006086.4(TUBB3):c.210C>T (p.Pro70=)	TUBB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 219255	NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)	TUBB3 (G71R)	Single nucleotide variant (5 prime UTR variant +1 more)	TUBB3-related tubulinopathy +1 more	GPathogenic
Select item 1338328	NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala)	TUBB3 (G71A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 872055	NM_006086.4(TUBB3):c.221A>G (p.Asp74Gly)	TUBB3 (D2G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242095	NM_006086.4(TUBB3):c.225T>C (p.Ser75=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742944	NM_006086.4(TUBB3):c.228C>T (p.Val76=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3061833	NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)	TUBB3 (R5C +1 more)	Single nucleotide variant (missense variant)	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	GUncertain significance
Select item 1710437	NM_006086.4(TUBB3):c.271A>G (p.Ile91Val)	TUBB3 (I19V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935688	NM_006086.4(TUBB3):c.277+6T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 137856	NM_006086.4(TUBB3):c.277+8C>T	TUBB3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 673982	NM_006086.4(TUBB3):c.277+58C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647145	NM_006086.4(TUBB3):c.277+143C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647146	NM_006086.4(TUBB3):c.277+155G>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250525	NM_006086.4(TUBB3):c.277+198C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647147	NM_006086.4(TUBB3):c.278-404C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229819	NM_006086.4(TUBB3):c.278-242C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670259	NM_006086.4(TUBB3):c.278-212T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201167	NM_006086.4(TUBB3):c.278-175C>G	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226620	NM_006086.4(TUBB3):c.278-97G>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973420	NM_006086.4(TUBB3):c.278-19C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4