ClinVar for Gene (Select 10381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184758	NM_006086.4(TUBB3):c.959G>T (p.Arg320Leu)	TUBB3 (R248L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184757	NM_006086.4(TUBB3):c.1226C>T (p.Thr409Ile)	TUBB3 (T337I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3061198	NM_006086.4(TUBB3):c.325G>C (p.Gly109Arg)	TUBB3 (G109R +1 more)	Single nucleotide variant (missense variant)	TUBB3-related condition	GUncertain significance
Select item 3050267	NM_006086.4(TUBB3):c.673C>T (p.Leu225Phe)	TUBB3 (L153F +1 more)	Single nucleotide variant (missense variant)	TUBB3-related condition	GUncertain significance
Select item 3041673	NM_006086.4(TUBB3):c.639C>T (p.Arg213=)	TUBB3	Single nucleotide variant (synonymous variant)	TUBB3-related condition	GLikely benign
Select item 3030986	NM_006086.4(TUBB3):c.1248C>T (p.Asn416=)	TUBB3	Single nucleotide variant (synonymous variant)	TUBB3-related condition	GLikely benign
Select item 3026931	NM_006086.4(TUBB3):c.596C>T (p.Thr199Ile)	TUBB3 (T127I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2988943	NM_006086.4(TUBB3):c.1157C>T (p.Thr386Met)	TUBB3 (T386M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975699	NM_006086.4(TUBB3):c.1303G>A (p.Glu435Lys)	TUBB3 (E363K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2974152	NM_006086.4(TUBB3):c.909C>T (p.Cys303=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973420	NM_006086.4(TUBB3):c.278-19C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972038	NM_006086.4(TUBB3):c.58-20C>T	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 2963833	NM_006086.4(TUBB3):c.1326G>A (p.Glu442=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2957476	NM_006086.4(TUBB3):c.501C>T (p.Phe167=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2893060	NM_006086.4(TUBB3):c.552C>T (p.Asn184=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885119	NM_006086.4(TUBB3):c.345G>A (p.Ser115=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883499	NM_006086.4(TUBB3):c.1044C>T (p.Asn348=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2880765	NM_006086.4(TUBB3):c.167-19A>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2834919	NM_006086.4(TUBB3):c.523G>T (p.Val175Leu)	TUBB3 (V103L +1 more)	Single nucleotide variant (missense variant)	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 2808302	NM_006086.4(TUBB3):c.985C>G (p.Gln329Glu)	TUBB3 (Q329E +1 more)	Single nucleotide variant (missense 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 2785647	NM_006086.4(TUBB3):c.278-5T>C	TUBB3	Single nucleotide variant (intron variant)	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 2751414	NM_006086.4(TUBB3):c.802C>T (p.Pro268Ser)	TUBB3 (P268S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744601	NM_006086.4(TUBB3):c.904G>T (p.Ala302Ser)	TUBB3 (A302S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2729400	NM_006086.4(TUBB3):c.816C>G (p.Pro272=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724486	NM_006086.4(TUBB3):c.1128G>T (p.Glu376Asp)	TUBB3 (E304D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690972	NM_006086.4(TUBB3):c.953G>A (p.Arg318Gln)	TUBB3 (R246Q +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
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 2647148	NM_006086.4(TUBB3):c.291C>T (p.Ala97=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647147	NM_006086.4(TUBB3):c.278-404C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647146	NM_006086.4(TUBB3):c.277+155G>A	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647145	NM_006086.4(TUBB3):c.277+143C>T	TUBB3	Single nucleotide variant (intron variant)	not provided	GBenign
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 2631577	NM_006086.4(TUBB3):c.647A>G (p.Lys216Arg)	TUBB3 (K144R +1 more)	Single nucleotide variant (missense variant)	TUBB3-related condition	GUncertain significance
Select item 2629824	NM_006086.4(TUBB3):c.844C>G (p.Arg282Gly)	TUBB3 (R210G +1 more)	Single nucleotide variant (missense variant)	TUBB3-related condition	GLikely pathogenic
Select item 2627829	NM_006086.4(TUBB3):c.1188C>G (p.His396Gln)	TUBB3 (H324Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2584963	NM_006086.4(TUBB3):c.958C>T (p.Arg320Cys)	TUBB3 (R248C +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GUncertain significance
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 2581949	NM_006086.4(TUBB3):c.801G>A (p.Met267Ile)	TUBB3 (M195I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579445	NM_006086.4(TUBB3):c.670G>A (p.Asp224Asn)	TUBB3 (D152N +1 more)	Single nucleotide variant (missense variant)	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 2507363	NM_006086.4(TUBB3):c.1291G>T (p.Glu431Ter)	TUBB3 (E359* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2505637	NM_006086.4(TUBB3):c.638G>A (p.Arg213His)	TUBB3 (R141H +1 more)	Single nucleotide variant (missense variant)	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 2499914	NM_006086.4(TUBB3):c.557C>T (p.Thr186Met)	TUBB3 (T114M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499586	NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)	TUBB3 (R308S +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1	GLikely pathogenic
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 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 2446326	NM_006086.4(TUBB3):c.895A>G (p.Met299Val)	TUBB3 (M227V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442611	NM_006086.4(TUBB3):c.970A>C (p.Lys324Gln)	TUBB3 (K252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438436	NM_006086.4(TUBB3):c.580G>A (p.Glu194Lys)	TUBB3 (E122K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431344	NM_006086.4(TUBB3):c.1343G>A (p.Gly448Asp)	TUBB3 (G376D +1 more)	Single nucleotide variant (missense variant)	TUBB3-related condition +1 more	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 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 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 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2395685	NM_006086.4(TUBB3):c.1323G>C (p.Glu441Asp)	TUBB3 (E369D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2237004	NM_006086.4(TUBB3):c.756G>C (p.Lys252Asn)	TUBB3 (K180N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230732	NM_006086.4(TUBB3):c.899del (p.Met300fs)	TUBB3 (M228fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2197049	NM_006086.4(TUBB3):c.684G>C (p.Leu228=)	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 2197047	NM_006086.4(TUBB3):c.342T>C (p.Asp114=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155225	NM_006086.4(TUBB3):c.588G>A (p.Thr196=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149830	NM_006086.4(TUBB3):c.804C>T (p.Pro268=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136125	NM_006086.4(TUBB3):c.826C>T (p.Arg276Trp)	TUBB3 (R204W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2136043	NM_006086.4(TUBB3):c.854C>T (p.Thr285Ile)	TUBB3 (T285I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125506	NM_006086.4(TUBB3):c.1286C>T (p.Thr429Met)	TUBB3 (T429M +1 more)	Single nucleotide variant (missense variant)	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 2099592	NM_006086.4(TUBB3):c.505G>A (p.Val169Ile)	TUBB3 (V169I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2095211	NM_006086.4(TUBB3):c.922G>A (p.Gly308Ser)	TUBB3 (G236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093950	NM_006086.4(TUBB3):c.680A>G (p.His227Arg)	TUBB3 (H227R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084253	NM_006086.4(TUBB3):c.558G>A (p.Thr186=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083393	NM_006086.4(TUBB3):c.895A>T (p.Met299Leu)	TUBB3 (M227L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059590	NM_006086.4(TUBB3):c.609C>T (p.Asp203=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048105	NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)	TUBB3 (E369K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2047014	NM_006086.4(TUBB3):c.1080C>T (p.Gly360=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015178	NM_006086.4(TUBB3):c.897G>T (p.Met299Ile)	TUBB3 (M227I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014680	NM_006086.4(TUBB3):c.833G>A (p.Ser278Asn)	TUBB3 (S206N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007235	NM_006086.4(TUBB3):c.58-17T>C	TUBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995512	NM_006086.4(TUBB3):c.1146C>T (p.Ser382=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1956256	NM_006086.4(TUBB3):c.916C>T (p.Arg306Cys)	TUBB3 (R234C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954673	NM_006086.4(TUBB3):c.1329G>A (p.Glu443=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940496	NM_006086.4(TUBB3):c.750G>A (p.Leu250=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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