TUBB3[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 288

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188692	NM_001197181.2(TUBB3):c.-160+1028C>T	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)	Complex cortical dysplasia with other brain malformations 1 +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 disorder +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 +2 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
Select item 1901319	NM_006086.4(TUBB3):c.278-16T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516338	NM_006086.4(TUBB3):c.278-7T>G	TUBB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2785647	NM_006086.4(TUBB3):c.278-5T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647148	NM_006086.4(TUBB3):c.291C>T (p.Ala97=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160191	NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	TUBB3 (G26S +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1 +1 more	GConflicting classifications of pathogenicity
Select item 1710200	NM_006086.4(TUBB3):c.313C>A (p.His105Asn)	TUBB3 (H105N +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GLikely pathogenic
Select item 1307242	NM_006086.4(TUBB3):c.318C>G (p.Tyr106Ter)	TUBB3 (Y106* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1693691	NM_006086.4(TUBB3):c.320C>T (p.Thr107Met)	TUBB3 (T107M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061198	NM_006086.4(TUBB3):c.325G>C (p.Gly109Arg)	TUBB3 (G109R +1 more)	Single nucleotide variant (missense variant)	TUBB3-related disorder	GUncertain significance
Select item 2430802	NM_006086.4(TUBB3):c.328G>A (p.Ala110Thr)	TUBB3 (A110T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302761	NM_006086.4(TUBB3):c.330G>A (p.Ala110=)	TUBB3	Single nucleotide variant (synonymous variant)	TUBB3-related disorder +1 more	GBenign/Likely benign
Select item 2197047	NM_006086.4(TUBB3):c.342T>C (p.Asp114=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683751	NM_006086.4(TUBB3):c.344C>T (p.Ser115Leu)	TUBB3 (S115L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GUncertain significance
Select item 2885119	NM_006086.4(TUBB3):c.345G>A (p.Ser115=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197048	NM_006086.4(TUBB3):c.348C>G (p.Val116=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582582	NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro)	TUBB3 (L117P +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GUncertain significance
Select item 282714	NM_006086.4(TUBB3):c.357G>A (p.Val119=)	TUBB3	Single nucleotide variant (synonymous variant)	TUBB3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061817	NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser)	TUBB3 (C124S +1 more)	Single nucleotide variant (missense variant)	TUBB3-related tubulinopathy	GUncertain significance
Select item 2430718	NM_006086.4(TUBB3):c.377A>C (p.Asn126Thr)	TUBB3 (N126T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753918	NM_006086.4(TUBB3):c.381C>T (p.Cys127=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309208	NM_006086.4(TUBB3):c.386G>A (p.Cys129Tyr)	TUBB3 (C129Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908576	NM_006086.4(TUBB3):c.414G>A (p.Ser138=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068154	NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)	TUBB3 (G140R +1 more)	Single nucleotide variant (missense variant)	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	GUncertain significance
Select item 2247973	NM_006086.4(TUBB3):c.418G>A (p.Gly140Arg)	TUBB3 (G68R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800969	NM_006086.4(TUBB3):c.418G>T (p.Gly140Trp)	TUBB3 (G140W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430312	NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)	TUBB3 (G142S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437129	NM_006086.4(TUBB3):c.435C>T (p.Ser145=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1163996	NM_006086.4(TUBB3):c.436G>A (p.Gly146Ser)	TUBB3 (G146S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446568	NM_006086.4(TUBB3):c.439A>C (p.Met147Leu)	TUBB3 (M147L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031020	NM_006086.4(TUBB3):c.446C>T (p.Thr149Met)	TUBB3 (T149M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 516838	NM_006086.4(TUBB3):c.447G>A (p.Thr149=)	TUBB3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2429216	NM_006086.4(TUBB3):c.467G>A (p.Arg156His)	TUBB3 (R156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974051	NM_006086.4(TUBB3):c.474G>C (p.Glu158Asp)	TUBB3 (E158D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710181	NM_006086.4(TUBB3):c.484C>T (p.Arg162Cys)	TUBB3 (R162C +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GUncertain significance
Select item 1806802	NM_006086.4(TUBB3):c.492G>T (p.Met164Ile)	TUBB3 (M164I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3